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>> ALL RIGHT.

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WELL, GREETINGS AND SALUTATIONS!

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WELCOME TO EVERYONE.

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I'M DAN KASTNER, THE SCIENTIFIC

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DIRECTOR EE MER TU TIS AND STILL

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ACTIVE PHYSICIAN SCIENTIST IN

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THE NATIONAL HUMAN GENOME

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RESEARCH INSTITUTE AND IT IS MY

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ENORMOUS PLEASURE THIS AFTERNOON

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TO WELCOME YOU TO THIS, THE

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FOURTH INSTALLMENT IN THE 2024

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SERIES OF DEMYSTIFYING MEDICINE.

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A SERIES OF PRESENTATIONS THAT

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BRIDGES THE EXCITING

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DEVELOPMENTS IN BIOLOGY AND

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ENGINEERING WITH MEDICINE.

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AT LEAST SOMETIMES.

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AND OF COURSE WE HAVE THE ICONIC

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PICTURE OF THE BROOKLYN BRIDGE,

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SPANNING FROM MANHATTAN TO

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BROOKLYN, GOING OVER THE EAST

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RIVER, AND YOU SEE UP ON THE

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CATWALK A COUPLE OF -- I THINK

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IT'S A PHYSICIAN AND A SCIENTIST

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UP THERE, EXCHANGING THEIR

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OPINIONS WITH REGARD TO THE

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ISSUES OF THE DAY BACK IN THE

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1870s, WHEN THE BROOKLYN

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BRIDGE WAS BEING CONSTRUCTED.

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OF COURSE NOW YOU CAN IMAGINE

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LES BIESECKER AND JOSH DENNY UP

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ON THE CATWALK TALKING ABOUT

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GENOMIC ASCERTAINMENT, OR

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PERHAPS PHENOTYPE RISK SCORES,

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AND PERHAPS THEY WILL GET

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EXCITED ABOUT IT AND THEY'LL

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FALL OFF THE CATWALK AND LAND IN

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THE FIELD, IN THE CORNFIELD WITH

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THE SILOS.

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WHO KNOWS?

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BUT IN ANY CASE, IT'S WONDERFUL

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TO HAVE YOU ALL HERE, AND THIS

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IS PART OF A SERIES THAT GOES

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FROM THE BEGINNING OF JANUARY

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THROUGH THE MIDDLE OF MAY, I

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THINK, THIS YEAR, AND IT'S FROM

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4:00 TO 6:00 IN THE AFTERNOON

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EASTERN TIME, STANDARD TIME.

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AND YOU CAN WATCH IT ON

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VIDEOCAST, BUT WE WOULD PREFER

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THAT YOU COME HERE, AND WE HAVE

52
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THESE DELICIOUS AND NUTRITIOUS

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COOKIES HERE FOR ANYONE WHO

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ACTUALLY SHOWS UP IN PERSON, YOU

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GET A FREE COOKIE.

56
00:02:05,626 --> 00:02:08,462
AND COFFEE, YES INDEED, AND

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COFFEE, COFFEE TO WHET YOUR

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PALATE WHILE EATING THOSE DRY

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COOKIES.

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IN ANY CASE, YOU CAN ALSO GET

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CME CREDIT HERE AND THE C ME.

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CODE IS 52089.

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I'LL GIVE YOU THE PHONE NUMBER

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YOU HAVE TO CALL IN ORDER TO GET

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THAT IN A MOMENT.

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AND IF YOU HAVE QUESTIONS, YOU

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JUST CLICK IF YOU'RE DOING THE

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VIDEOCAST, ANYWAY, YOU USE THE

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"SEND LIVE FEEDBACK" BUTTON ON

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THE VIDEOCAST DISPLAY.

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IF YOU'RE HERE IN PERSON, YOU'RE

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ACTUALLY ALLOWED TO ASK THE

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QUESTION YOURSELF.

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YOU DON'T HAVE TO TYPE IT IN TO

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THE "SEND LIVE FEEDBACK" BUTTON.

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ANYWAY, ABOUT IF IF YOU WANT TOK

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IN TIME, YOU CAN DO THAT TOO.

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ALL OF THE SESSIONS ARE ARCHIVED

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AND YOU CAN SEE THE LINKS THERE

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FOR THE ARCHIVES.

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HERE ON THE NEXT SLIDE, YOU JUST

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HAVE THE CME INFORMATION, AGAIN,

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THAT'S CME CODE 52089 AND TEXT

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THAT CODE TO 844-980-1555.

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IF YOU DO IT IN THE NEXT MINUTE,

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YOU'LL GET AN EXTRA COOKIE.

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SO IN ANY CASE, THEN HERE'S,

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AGAIN, REPEATED, THIS CODE.

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THE DISCLOSURES FOR THOSE OF YOU

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WHO ARE INTERESTED IN THAT.

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AND NOW WE BEGIN THE REAL MEAT

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OF THE PRESENTATION HERE.

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OF COURSE THIS PRESENTATION,

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MANY OF YOU KNOW, IS THE

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PROSPECT OF PRECISION MEDICINE

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FOR ALL-OF-US, THAT'S THE TITLE

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OF IT, A MADE-UP TITLE TO TRY TO

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BRING TOGETHER TWO THEMES IN

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THIS PRESENTATION.

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OF COURSE PRECISION MEDICINE IS

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AN IDEA THAT WAS SORT OF PUT OUT

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THERE IN THE STATE OF THE UNION

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ADDRESS BACK IN 2015, AND IT

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REFERS TO THE IDEA OF HAVING A

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SYSTEM WHERE WE CAN TARGET

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THERAPIES TO INDIVIDUALS BASE

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OND GENOMIC INFORMATION, BASED

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ON ENVIRONMENTAL EXPOSURES,

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BASED ON THE MICROBIOME, BASED

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ON THEIR DIET, THEIR EXERCISE,

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THEIR HEALTH HISTORY,

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EVERYTHING, TO REALLY GET DOWN

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TO A PRECISE TREATMENT FOR THAT

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PERSON.

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AND WE HAVE TWO LEADING EXPERTS

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IN THE FIELD OF PRECISION

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MEDICINE THIS AFTERNOON.

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THE FIRST OF THEM, DR. LES

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BIESECKER, IS AN NIH

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DISTINGUISHED INVESTIGATOR AND

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DIRECTOR FOR THE CENTER FOR

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PRECISION HEALTH RESEARCH AT THE

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NHGRI, THE NATIONAL HUMAN GENOME

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RESEARCH INSTITUTE.

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HE GOT HIS BACHELOR'S DEGREE

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FROM UC RIVERSIDE, HIS

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MEDICAL DEGREE AOA FROM THE

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UNIVERSITY OF ILLINOIS.

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HE DID HIS PEDIATRIC TRAINING AT

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THE UNIVERSITY OF WISCONSIN, AND

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THEN PEDIATRIC GENETICS AT THE

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UNIVERSITY OF MICHIGAN.

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HE'S WELL-KNOWN FOR HIS MANY

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CONTRIBUTIONS TO THE ETIOLOGY

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AND NATURAL HISTORY OF MULTIPLE

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DISEASES, AND FOR BEING THE

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FATHER OF THE, THE INITIATOR OF

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THE CL CLINSEQ PROGRAM, ABOUT WH

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I'M SURE YOU WILL HEAR A GOOD

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DEAL DURING THE COURSE OF THIS

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PRESENTATION.

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HE'S PAST PRESIDENT OF THE

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AMERICAN SEW SAMERICAN SOCIETY U

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NAN GENETICS, I BELIEVE THAT WAS

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IN 2019, AND HE'S AN ELECTED

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MEMBER OF THE NATIONAL ACADEMY

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OF MEDICINE.

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HIS LAB CURRENTLY WORKS ON

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CLINICAL, MOLECULAR AND NATURAL

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HISTORY STUDIES OF NUMEROUS RARE

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DISORDERS OF DEVELOPMENT AND

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OVERGROWTH.

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THEY'RE DOING A LOT OF TARGETED

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THERAPY STUDIES FOR MOSAIC

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OVERGROWTH DISORDERS AS WELL.

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AND OF COURSE HIS GROUP OVERSEES

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THE LARGE SCALE MEDICAL

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SEQUENCING PROJECT, CLINSEQ, TO

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ADVANCE OUR UNDERSTANDING OF THE

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CONTRIBUTIONS OF RARE VERSUS

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COMMON GENETIC VARIANTS TO

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COMMON DISEASES,

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PHARMACOGENOMICS AND NEW

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APPROACHES TO STUDY DESIGN AND

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SUBJECT PARTICIPATION IN

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CLINICAL GENOMICS RESEARCH.

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OUR SECOND PRESENTER IS THE GOOD

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DR. JOSH DENNY, WHO IS THE CHIEF

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EXECUTIVE OFFICER OF THE

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ALL-OF-US RESEARCH PROGRAM AT

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THE NATIONAL INSTITUTES OF

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HEALTH, AND ALSO AN ADJUNCT

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INVESTIGATOR AT THE NHGRI.

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HE GOT HIS BACHELOR'S DEGREE

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FROM VANDERBILT, HIS M.D.AOA

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ALSO AT VANDERBILT AND A

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MASTER'S DEGREE IN BIOMEDICAL

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INFORMATICS AS WELL.

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HIS POSTGRADUATE TRAINING

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INCLUDED TIME AS A MEDICAL

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SCHOLAR AT VANDERBILT AND AN

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INTERNAL MEDICINE RESIDENCY

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THERE.

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HE'S WELL-KNOWN FOR HIS USE OF

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ELECTRONIC HEALTH RECORDS.

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HE'S A PIONEER IN THAT FIELD,

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ELECTRONIC HEALTH RECORDS AND

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GENOMICS DATA FROM LARGE SCALE

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BIOBANKS TO BETTER UNDERSTAND

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DISEASE AND DRUG RESPONSE.

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HE'S THE FOUNDING DIRECTOR OF

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THE CENTER FOR PRECISION

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MEDICINE AT VANDERBILT, AND THE

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RECIPIENT OF THE HOMER WARNER

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AWARD OF THE AMERICAN MEDICAL

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INFORMATICS ASSOCIATION.

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HE'S ALSO AN ELECTED MEMBER OF

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THE NATIONAL ACADEMY OF

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MEDICINE, AND OF THE AMERICAN

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SOCIETY FOR CLINICAL

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INVESTIGATION.

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HIS RESEARCH GROUP IS ACTIVELY

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INVOLVED IN THE DISCOVERY OF

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DISEASE GENE RELATIONSHIPS BY

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GATHERING, ASSESSING AND

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ANALYZING THE HUMAN PHENOME

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COLLECTION OF ALL PHENOTYPES

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JUST LIKE THE GENOME IS THE

209
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COLLECTION OF ALL GENETIC

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INFORMATION ACROSS GENOMIC AND

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ENVIRONMENTAL EXPOSURES, KNOWN

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FOR THE DEVELOPMENT OF THE

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PHENOME-WIDE ASSOCIATION STUDY,

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LIKE THE GENOME-WIDE ASSOCIATION

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STUDY, AND THE DEVELOPMENT OF

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TOOLS TO EXTRACT PRACTICAL

217
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INFORMATION FROM THE ELECTRONIC

218
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HEALTH RECORDS IN A SYSTEMATIC

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AND UNBIASED FASHION.

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SO, WITH THAT HAVING BEEN SAID,

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I'M GOING TO TURN THINGS OVER TO

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THE GOOD DR. BIESECKER, WHO'S

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GOING TO TAKE THINGS AWAY FROM

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HERE.

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LES.

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[APPLAUSE]

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>> GREAT.

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THANK YOU, DAN, FOR THE LOVELY

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INTRODUCTION.

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THANKS FOR COMING TONIGHT, AND

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ALSO WE SHOULD ALSO THANK THE

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DIRECTOR EMERITUS OF THE SERIES,

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WIN ARIAS, FOR SETTING THE STAGE

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AND BEING HERE WITH US TONIGHT.

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OKAY, WE HAVE AN INTERESTING

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PRESENTATION FOR YOU TONIGHT.

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WE'RE GOING TO HAVE -- I THINK

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THE FIVE STAGES TO THIS

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PRESENTATION TONIGHT.

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OKAY.

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DAN ALREADY DID THE

242
00:08:36,883 --> 00:08:37,317
INTRODUCTIONS.

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AND WE ARE GOING TO SET THE

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STAGE FOR THE PRESENTATION WITH

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A PATIENT INTERVIEW.

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THIS IS A LOVELY LADY WHO HAS

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AGREED TO JOIN US TONIGHT, WHO

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IS AS DAN MENTIONED A CURRENT

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PARTICIPANT IN OUR CLINSEQ

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RESEARCH PROGRAM AND REVERSE

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PHENOTYPING PROGRAM, SO WE'RE

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GOING TO START WITH THAT.

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THEN I WILL PRESENT, THEN JOSH

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WILL PRESENT, AND THEN WE'RE

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GOING TO COME BACK TO OUR

256
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PATIENT FOR THE DE NU MOUS.

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SO STAY WITH US AND YOU'LL BE

258
00:09:13,420 --> 00:09:14,287
FASCINATED HOW THIS TURNS OUT.

259
00:09:14,287 --> 00:09:17,791
SO I WILL START BY NOW IN TURN

260
00:09:17,791 --> 00:09:23,597
INTRODUCING CARRIE WOLSHEFSKI,

261
00:09:23,597 --> 00:09:24,464
GENETICIST AND COUNSELOR WHO IS

262
00:09:24,464 --> 00:09:27,200
IN OUR REVERSE PHENOTYPING CORE,

263
00:09:27,200 --> 00:09:29,502
AND SHE'S GOING TO BRING OUR

264
00:09:29,502 --> 00:09:31,338
RESEARCH PARTICIPANT UP, START

265
00:09:31,338 --> 00:09:33,373
WITH AN INTERVIEW TO SORT OF

266
00:09:33,373 --> 00:09:34,507
WHET YOUR APPETITE ABOUT WHAT

267
00:09:34,507 --> 00:09:35,642
WE'RE GOING TO TALK ABOUT

268
00:09:35,642 --> 00:09:38,578
TONIGHT, AND GET US GOING.

269
00:09:38,578 --> 00:09:39,412
CARRIE?

270
00:09:39,412 --> 00:09:49,589
[APPLAUSE]

271
00:09:54,361 --> 00:09:55,595
>> THANK YOU, LES, FOR THE

272
00:09:55,595 --> 00:09:56,129
INTRODUCTION.

273
00:09:56,129 --> 00:09:58,098
SO AS LES MENTIONED, JOINING ME

274
00:09:58,098 --> 00:10:00,267
TODAY IS MISLILI COLEMAN.

275
00:10:00,267 --> 00:10:02,369
SHE IS A PARTICIPANT IN OUR

276
00:10:02,369 --> 00:10:04,004
CLINSEQ PROGRAM, AS WELL AS A

277
00:10:04,004 --> 00:10:05,972
PARTICIPANT IN OUR REVERSE

278
00:10:05,972 --> 00:10:07,274
PHENOTYPING CORE, WHICH IS A

279
00:10:07,274 --> 00:10:08,375
RELATIVELY NEW CORE FACILITY

280
00:10:08,375 --> 00:10:11,478
HERE IN NHGRI.

281
00:10:11,478 --> 00:10:13,446
SO WHAT WE'RE GOING TO DO TODAY,

282
00:10:13,446 --> 00:10:14,648
MISS COLEMAN AND I ARE GOING TO

283
00:10:14,648 --> 00:10:16,182
TALK A LITTLE BIT ABOUT HER

284
00:10:16,182 --> 00:10:19,219
EXPERIENCES IN THESE RESEARCH

285
00:10:19,219 --> 00:10:19,586
PROGRAMS.

286
00:10:19,586 --> 00:10:21,388
AND A LITTLE BIT ABOUT HOW

287
00:10:21,388 --> 00:10:27,093
GENOMICS HAS PLAYED A ROLE IN

288
00:10:27,093 --> 00:10:28,295
HER CLINICAL CARE AND TREATMENT.

289
00:10:28,295 --> 00:10:29,696
SO MISS COLEMAN, COULD YOU START

290
00:10:29,696 --> 00:10:32,666
BY TELLING US A LITTLE BIT ABOUT

291
00:10:32,666 --> 00:10:34,467
HOW YOU INITIALLY GOT INVOLVED

292
00:10:34,467 --> 00:10:37,037
IN THE CLINSEQ RESEARCH STUDY?

293
00:10:37,037 --> 00:10:37,671
>> YES.

294
00:10:37,671 --> 00:10:42,709
IT WAS BACK IN 2014, WHEN I

295
00:10:42,709 --> 00:10:45,712
HEARD ABOUT THE PROGRAM, AND THE

296
00:10:45,712 --> 00:10:47,948
REASON WHY I WANTED TO GET

297
00:10:47,948 --> 00:10:52,118
INVOLVED WAS PAUSE MY MOTHER,

298
00:10:52,118 --> 00:10:55,388
MOTHER, HAD AN ENLARGED HEART.

299
00:10:55,388 --> 00:10:59,459
SO THAT GAVE ME THE INTEREST IN

300
00:10:59,459 --> 00:11:03,263
TRYING TO FIND OUT WHY THAT

301
00:11:03,263 --> 00:11:06,766
HAPPENED, AND BY CHANCE, IT WAS

302
00:11:06,766 --> 00:11:08,868
SOMETHING PASSED DOWN TO ME.

303
00:11:08,868 --> 00:11:10,837
AND SO THAT WAS THE PRIMARY

304
00:11:10,837 --> 00:11:13,173
REASON WHY I WANTED TO GET

305
00:11:13,173 --> 00:11:13,406
STARTED.

306
00:11:13,406 --> 00:11:14,107
>> THANKS.

307
00:11:14,107 --> 00:11:16,409
SO YOU JOINED THE CLINSEQ STUDY

308
00:11:16,409 --> 00:11:20,547
BACK IN 2014, AND BEFORE THEN

309
00:11:20,547 --> 00:11:24,284
AND LEADING UP TO WHEN WE

310
00:11:24,284 --> 00:11:26,252
RECONTACTED YOU IN 2022, I

311
00:11:26,252 --> 00:11:28,221
UNDERSTAND THAT YOU HAD SOME

312
00:11:28,221 --> 00:11:29,255
HEALTH ISSUES.

313
00:11:29,255 --> 00:11:32,692
COULD YOU SHARE WITH US A LITTLE

314
00:11:32,692 --> 00:11:33,593
BIT ABOUT WHAT SOME OF THE

315
00:11:33,593 --> 00:11:34,894
HEALTH ISSUES WERE THAT YOU WERE

316
00:11:34,894 --> 00:11:38,298
FACING UP UNTIL ABOUT 2022?

317
00:11:38,298 --> 00:11:44,637
>> YES, IT STARTED BACK IN

318
00:11:44,637 --> 00:11:46,473
2019 -- SORRY, 1990, JUST

319
00:11:46,473 --> 00:11:48,341
ACCIDENTALLY I WAS WORKING WITH

320
00:11:48,341 --> 00:11:51,611
AN OPHTHALMOLOGY GROUP, AND

321
00:11:51,611 --> 00:11:53,079
HAPPENED TO LOOK AT MY EYES AND

322
00:11:53,079 --> 00:11:54,280
DISCOVERY HAD SOME RETINAL

323
00:11:54,280 --> 00:11:56,649
ISSUES GOING ON, AND SO I

324
00:11:56,649 --> 00:11:59,986
STARTED SEEING A RETINA

325
00:11:59,986 --> 00:12:01,388
SPECIALIST EVERY YEAR AFTER

326
00:12:01,388 --> 00:12:03,556
THAT.

327
00:12:03,556 --> 00:12:05,959
THEN I GO ON INTO 2000, AND I

328
00:12:05,959 --> 00:12:10,330
STARTED HAVING PAIN AND TINGLING

329
00:12:10,330 --> 00:12:14,701
IN MY FINGERS.

330
00:12:14,701 --> 00:12:17,437
NO ONE COULD ACTUALLY TELL ME

331
00:12:17,437 --> 00:12:19,172
WHY THAT WAS OCCURRING.

332
00:12:19,172 --> 00:12:21,374
I PROCEEDED ON, THEN I DEVELOPED

333
00:12:21,374 --> 00:12:27,180
WHAT THEY CALL COPPER TONE IN MY

334
00:12:27,180 --> 00:12:31,651
HANDS, AND BACK IN THE 2020, I

335
00:12:31,651 --> 00:12:34,521
STARTED TO HAVE THOSE SAME TYPE

336
00:12:34,521 --> 00:12:36,790
OF SENSATIONS IN MY TOES.

337
00:12:36,790 --> 00:12:41,261
I STARTED HAVING A TI TINGLING,

338
00:12:41,261 --> 00:12:45,065
NERVOUSNESS, THE NERVE, AND NO

339
00:12:45,065 --> 00:12:46,533
ONE COULD EXPLAIN THAT TO ME

340
00:12:46,533 --> 00:12:47,834
EITHER.

341
00:12:47,834 --> 00:12:55,075
SO BACK IN 2018, I SAW MY

342
00:12:55,075 --> 00:12:58,545
PRIMARY DOCTOR, AND THEY

343
00:12:58,545 --> 00:13:00,880
DISCOVERED MY HEART WAS SKIPPING

344
00:13:00,880 --> 00:13:03,149
A BEAT, AND SO THEY HAD ASKED ME

345
00:13:03,149 --> 00:13:06,119
TO WEAR A MONITOR, AND I DID

346
00:13:06,119 --> 00:13:09,289
THAT FOR ABOUT A MONTH, AND

347
00:13:09,289 --> 00:13:12,125
DISCOVERED THAT I HAD A VERY

348
00:13:12,125 --> 00:13:15,628
SLOW HEARTBEAT AND I WAS PLACED

349
00:13:15,628 --> 00:13:23,269
WITH A PACEMAKER IN 2018.

350
00:13:23,269 --> 00:13:25,805
AND BACK IN THE -- I GUESS IT

351
00:13:25,805 --> 00:13:28,308
WAS IN THE 2022, I WAS DIAGNOSED

352
00:13:28,308 --> 00:13:30,376
WITH THYROID DISEASE.

353
00:13:30,376 --> 00:13:31,778
AND STARTED TAKING MEDICATION

354
00:13:31,778 --> 00:13:33,780
FOR THAT AS WELL.

355
00:13:33,780 --> 00:13:35,982
SO AS YOU CAN SEE, I HAD A LOT

356
00:13:35,982 --> 00:13:42,088
OF ISSUES GOING ON WITH IN, NO

357
00:13:42,088 --> 00:13:43,556
ONE REALLY KNEW WHY.

358
00:13:43,556 --> 00:13:47,127
>> SO UP UNTIL WE
CONTACTED YOU

359
00:13:47,127 --> 00:13:49,762
IN 2022, WHEN WE CALLED YOU AT

360
00:13:49,762 --> 00:13:50,730
THIS GENETIC RESULT, YOU HAD

361
00:13:50,730 --> 00:13:54,134
BEEN DIAGNOSED WITH CARPAL

362
00:13:54,134 --> 00:13:55,902
TUNNEL SYNDROME, THAT NERVE

363
00:13:55,902 --> 00:13:57,737
PAIN, THAT NEUROPATHY THAT

364
00:13:57,737 --> 00:13:59,172
STARTED IN YOUR FINGERS AND THEN

365
00:13:59,172 --> 00:14:02,008
LATER ON YOU ALSO DEVELOPED IN

366
00:14:02,008 --> 00:14:02,642
YOUR TOES.

367
00:14:02,642 --> 00:14:04,744
YOU HAD THAT SLOW HEART RATE FOR

368
00:14:04,744 --> 00:14:06,813
WHICH YOU GOT A PACEMAKER, AND

369
00:14:06,813 --> 00:14:08,681
YOU WERE DIAGNOSED WITH ATRIAL

370
00:14:08,681 --> 00:14:09,015
FIBRILLATION.

371
00:14:09,015 --> 00:14:09,449
>> MM-HMM.

372
00:14:09,449 --> 00:14:11,651
>> AND THEN YOU ALSO HAD
THE

373
00:14:11,651 --> 00:14:14,154
RETINAL DYSTROPHY AND GLAUCOMA

374
00:14:14,154 --> 00:14:15,155
WAS ALSO DIAGNOSED, RIGHT?

375
00:14:15,155 --> 00:14:16,222
>> THAT'S TRUE.

376
00:14:16,222 --> 00:14:16,756
THAT'S TRUE.

377
00:14:16,756 --> 00:14:18,291
>> ALL RIGHT.

378
00:14:18,291 --> 00:14:21,594
SO THOSE ARE JUST KIND OF A

379
00:14:21,594 --> 00:14:22,662
BRIEF SUMMARY OF EVERYTHING THAT

380
00:14:22,662 --> 00:14:24,864
WAS GOING ON WITH YOU.

381
00:14:24,864 --> 00:14:26,266
HOW WAS ALL OF THAT KIND OF

382
00:14:26,266 --> 00:14:29,235
IMPACTING YOUR LIFE AND YOUR DAY

383
00:14:29,235 --> 00:14:30,670
TO DAY?

384
00:14:30,670 --> 00:14:32,305
>> WELL, IT WAS A SEVERE
IMPACT

385
00:14:32,305 --> 00:14:33,173
FOR ME.

386
00:14:33,173 --> 00:14:36,476
I WAS WONDERING WHY THOSE THINGS

387
00:14:36,476 --> 00:14:39,846
WAS HAPPENING TO ME, AND SEEMED

388
00:14:39,846 --> 00:14:40,947
LIKE NO ONE ELSE IN MY FAMILY

389
00:14:40,947 --> 00:14:42,682
WITH THE EXCEPTION OF MY MOTHER

390
00:14:42,682 --> 00:14:44,784
WAS HAVING THESE ISSUES, WHO'S

391
00:14:44,784 --> 00:14:46,519
IN HER 90s.

392
00:14:46,519 --> 00:14:49,489
SO I WAS LIKE, OKAY, THEN LET'S

393
00:14:49,489 --> 00:14:51,124
BE -- THERE MUST BE SOME

394
00:14:51,124 --> 00:14:54,227
CONNECTION WHY I SEEM TO BE

395
00:14:54,227 --> 00:14:55,695
TRAILING BEHIND MY MOTHER WITH

396
00:14:55,695 --> 00:14:56,796
THE SAME TYPE OF CONDITION THAT

397
00:14:56,796 --> 00:14:58,231
SHE'S HAVING.

398
00:14:58,231 --> 00:15:00,833
AND THAT JUST MADE ME WANTED TO

399
00:15:00,833 --> 00:15:03,603
DIG MORE INTO WHAT WAS GOING ON.

400
00:15:03,603 --> 00:15:05,138
>> I REMEMBER YOU
MENTIONED WHEN

401
00:15:05,138 --> 00:15:06,973
YOU WERE TALKING ABOUT WHY YOU

402
00:15:06,973 --> 00:15:08,808
JOINED CLINSEQ, YOU HAD THIS

403
00:15:08,808 --> 00:15:10,176
FAMILY HISTORY OF THE ENLARGED

404
00:15:10,176 --> 00:15:11,611
HEART AND I REMEMBERED WHEN I

405
00:15:11,611 --> 00:15:14,514
CALLED YOU IN 2022, YOU

406
00:15:14,514 --> 00:15:15,615
MENTIONED THAT YOU WERE KIND OF

407
00:15:15,615 --> 00:15:17,350
WORRIED THAT YOU WERE FOLLOWING

408
00:15:17,350 --> 00:15:18,418
ALONG YOUR MOTHER'S HEALTH

409
00:15:18,418 --> 00:15:20,220
PICTURE AND SHE WASN'T DOING SO

410
00:15:20,220 --> 00:15:21,554
WELL, AND SO THAT WAS SOMETHING

411
00:15:21,554 --> 00:15:23,723
THAT WAS KIND OF WEIGHING ON

412
00:15:23,723 --> 00:15:23,890
YOU.

413
00:15:23,890 --> 00:15:24,357
>> YES.

414
00:15:24,357 --> 00:15:27,327
>> OKAY.

415
00:15:27,327 --> 00:15:28,861
SO GIVEN THIS KIND OF

416
00:15:28,861 --> 00:15:29,529
CONSTELLATION OF SYMPTOMS AND

417
00:15:29,529 --> 00:15:30,463
ALL OF THESE DIFFERENT THINGS

418
00:15:30,463 --> 00:15:35,201
THAT YOU HAD GOING ON, DID ANY

419
00:15:35,201 --> 00:15:37,604
DOCTORS EVER SUGGEST A DIAGNOSIS

420
00:15:37,604 --> 00:15:42,408
THAT MIGHT HELP UNIFY ALL OF

421
00:15:42,408 --> 00:15:43,409
THAT'S DIFFERENT HEALTH ISSUES?

422
00:15:43,409 --> 00:15:47,313
>> NO, I REALLY NEVER HAD
A

423
00:15:47,313 --> 00:15:50,183
PHYSICIAN TO I DON'T EVEN THINK

424
00:15:50,183 --> 00:15:51,618
WONDER WHY I WAS HAVING ALL OF

425
00:15:51,618 --> 00:15:52,819
THESE ISSUES BECAUSE EVERYONE

426
00:15:52,819 --> 00:15:54,787
SEEMED TO BE SO BUSY.

427
00:15:54,787 --> 00:15:59,559
I'D GO TO MY PRIMARY DOCTOR AND

428
00:15:59,559 --> 00:16:00,560
I MENTIONED SOMETHING WAS GOING

429
00:16:00,560 --> 00:16:01,861
ON WITH ME, THAT SHE WOULD REFER

430
00:16:01,861 --> 00:16:04,931
ME TO THE SPECIALIST AN THAT SHE

431
00:16:04,931 --> 00:16:06,366
FELT I NEEDED TO SEE, BUT BY THE

432
00:16:06,366 --> 00:16:08,568
SAME TIME, I SAW THAT SPECIALIST

433
00:16:08,568 --> 00:16:10,069
AND, WELL, IT WAS DIAGNOSED WITH

434
00:16:10,069 --> 00:16:12,705
WHATEVER WAS GOING ON, BUT NO

435
00:16:12,705 --> 00:16:15,541
ONE TOOK THE TIME TO PUT ALL THE

436
00:16:15,541 --> 00:16:17,844
PIECES TOGETHER AND SAY, I

437
00:16:17,844 --> 00:16:18,945
WONDER WHY THIS IS HAPPENING TO

438
00:16:18,945 --> 00:16:20,380
YOU.

439
00:16:20,380 --> 00:16:21,748
>> SO YOU WOULD GO SEE ONE

440
00:16:21,748 --> 00:16:23,316
PERSON FOR YOUR EYES, ONE PERSON

441
00:16:23,316 --> 00:16:25,184
FOR YOUR HEART, ONE PERSON FOR

442
00:16:25,184 --> 00:16:27,920
THE CARPAL TUNNEL AND IT SOUNDS

443
00:16:27,920 --> 00:16:30,323
AS THOUGH LIKE WHAT DR. KASTNER

444
00:16:30,323 --> 00:16:32,191
WAS SAYING, EVERYONE WAS KIND OF

445
00:16:32,191 --> 00:16:34,460
LIVING IN THEIR OWN SILO AND

446
00:16:34,460 --> 00:16:35,561
THERE WEREN'T A LOT OF BRIDGES

447
00:16:35,561 --> 00:16:36,663
OR CONNECTIONS BETWEEN THEM.

448
00:16:36,663 --> 00:16:37,697
>> YES, YES, EXACTLY.

449
00:16:37,697 --> 00:16:38,965
>> DID ANYBODY EVER
MENTION THE

450
00:16:38,965 --> 00:16:41,801
CONCEPT OF GENETICS IN ALL OF

451
00:16:41,801 --> 00:16:42,769
THE DIFFERENT THINGS THAT WERE

452
00:16:42,769 --> 00:16:44,404
GOING ON WITH YOU AT THE TIME?

453
00:16:44,404 --> 00:16:47,940
>> NO, THAT WAS SOMETHING
THAT

454
00:16:47,940 --> 00:16:49,676
WAS NEVER EVEN DISCUSSED.

455
00:16:49,676 --> 00:16:50,677
AS A MATTER OF FACT, IT WAS

456
00:16:50,677 --> 00:16:52,078
SOMETHING THAT I DIDN'T EVEN

457
00:16:52,078 --> 00:16:53,379
THINK ABOUT.

458
00:16:53,379 --> 00:16:56,516
YOU KNOW, I THOUGHT ABOUT IT IN

459
00:16:56,516 --> 00:17:00,386
THE SENSE THAT I SEEMED TO BE

460
00:17:00,386 --> 00:17:02,689
TRAILING BEHIND MY MOM IN MY

461
00:17:02,689 --> 00:17:04,557
SYMPTOMS, BUT I NEVER THOUGHT

462
00:17:04,557 --> 00:17:06,426
ABOUT, OH, THAT COULD BE

463
00:17:06,426 --> 00:17:06,859
GENETIC.

464
00:17:06,859 --> 00:17:08,828
IT JUST NEVER OCCURRED TO ME.

465
00:17:08,828 --> 00:17:10,229
>> SO YOU'RE THINKING FROM
LIKE

466
00:17:10,229 --> 00:17:12,231
A FAMILY PERSPECTIVE BUT NOT

467
00:17:12,231 --> 00:17:14,200
NECESSARILY LIKE, OKAY, WHAT

468
00:17:14,200 --> 00:17:16,636
MIGHT ALL BE CONNECTING ALL OF

469
00:17:16,636 --> 00:17:17,070
THE DOTS TOGETHER.

470
00:17:17,070 --> 00:17:17,470
>> RIGHT.

471
00:17:17,470 --> 00:17:19,739
>> ALL RIGHT.

472
00:17:19,739 --> 00:17:21,074
SO WE'LL PUT A PIN IN THINGS FOR

473
00:17:21,074 --> 00:17:22,275
NOW AND WE'LL COME BACK AND KIND

474
00:17:22,275 --> 00:17:23,943
OF TALK ABOUT, OKAY, WHEN WE

475
00:17:23,943 --> 00:17:28,081
GAVE YOU A CALL IN 2022  2022 WE

476
00:17:28,081 --> 00:17:29,148
GENETIC RESULT, HOW DID THAT TIE

477
00:17:29,148 --> 00:17:31,217
ALL OF THESE DIFFERENT

478
00:17:31,217 --> 00:17:32,685
COMPONENTS OF YOUR HEALTH ISSUES

479
00:17:32,685 --> 00:17:33,486
ALL TOGETHER?

480
00:17:33,486 --> 00:17:35,521
BUT FOR NOW, WE'LL TURN IT OVER

481
00:17:35,521 --> 00:17:37,890
TO DR. BIESECKER TO GIVE A

482
00:17:37,890 --> 00:17:39,559
LITTLE INTRODUCTION ABOUT THIS

483
00:17:39,559 --> 00:17:41,394
IDEA OF USING GENETICS IN OUR

484
00:17:41,394 --> 00:17:41,828
HEALTHCARE.

485
00:17:41,828 --> 00:17:50,403
[APPLAUSE]

486
00:17:50,403 --> 00:17:51,904
>> OKAY.

487
00:17:51,904 --> 00:17:53,172
THANKS FOR THAT INTRODUCTION.

488
00:17:53,172 --> 00:17:55,942
SO NOW WHAT I WANT TO DO IS

489
00:17:55,942 --> 00:17:58,811
TRANSITION TO SOME SLIDES ON

490
00:17:58,811 --> 00:18:00,880
THIS CONCEPT OF WHAT WE CALL

491
00:18:00,880 --> 00:18:03,950
REVERSE PHENOTYPING OR

492
00:18:03,950 --> 00:18:04,717
GENOTYPE-FIRST RESEARCH.

493
00:18:04,717 --> 00:18:05,918
SO WHAT WE'RE REALLY TALKING

494
00:18:05,918 --> 00:18:08,654
ABOUT HERE IS THE FUND MENTAL

495
00:18:08,654 --> 00:18:11,257
STRUCTURE OF HOW DOCS THINK

496
00:18:11,257 --> 00:18:13,259
ABOUT THEIR PATIENTS AND HOW

497
00:18:13,259 --> 00:18:16,963
PATIENTS GET CARED FOR AND HOW

498
00:18:16,963 --> 00:18:19,031
WE CAN USE INFORMATION TO BEGIN

499
00:18:19,031 --> 00:18:22,101
TO THINK ABOUT CHANGING THAT.

500
00:18:22,101 --> 00:18:23,836
SO THE CURRENT MODEL IS PRETTY

501
00:18:23,836 --> 00:18:24,404
SIMPLE.

502
00:18:24,404 --> 00:18:25,705
THIS IS THE DIFFERENTIAL

503
00:18:25,705 --> 00:18:26,672
DIAGNOSTIC MODEL THAT

504
00:18:26,672 --> 00:18:28,641
ESSENTIALLY ALL PHYSICIANS USE.

505
00:18:28,641 --> 00:18:29,642
AND IT FIRST STARTS WITH THE

506
00:18:29,642 --> 00:18:31,944
PATIENT GETTING SICK.

507
00:18:31,944 --> 00:18:33,279
THEN THEY GO TO THEIR DOCTOR,

508
00:18:33,279 --> 00:18:35,982
THEY SAY WHAT'S WRONG WITH THEM,

509
00:18:35,982 --> 00:18:37,617
THEY GET -- THE DOCTOR ELICITS A

510
00:18:37,617 --> 00:18:40,253
HIHISTORY AND DOES A PHYSICAL

511
00:18:40,253 --> 00:18:41,554
EXAMINATION, AND THEN THE DOCTOR

512
00:18:41,554 --> 00:18:42,789
CREATES WHAT'S CALLED THE

513
00:18:42,789 --> 00:18:43,423
DIFFERENTIAL DIAGNOSIS.

514
00:18:43,423 --> 00:18:48,227
SO THAT'S A LIST OF DIAGNOSTIC

515
00:18:48,227 --> 00:18:49,328
POSSIBILITIES THAT COULD

516
00:18:49,328 --> 00:18:50,329
POTENTIALLY EXPLAIN THAT

517
00:18:50,329 --> 00:18:53,499
PATIENT'S SYMPTOMS.

518
00:18:53,499 --> 00:18:54,767
THEN THE CLINICIAN WILL ORDER

519
00:18:54,767 --> 00:18:57,870
ONE OR MORE TESTS ON THAT

520
00:18:57,870 --> 00:18:59,739
PATIENT THAT DISTINGUISH, AMONG

521
00:18:59,739 --> 00:19:02,241
THE DIAGNOSTIC POSSIBILITIES, IN

522
00:19:02,241 --> 00:19:04,410
ORDER TO REFINE THAT

523
00:19:04,410 --> 00:19:05,545
DIFFERENTIAL DIAGNOSIS AND

524
00:19:05,545 --> 00:19:07,580
EVENTUALLY GET TO A SINGLE

525
00:19:07,580 --> 00:19:10,683
DIAGNOSIS THAT EXPLAINS THEIR

526
00:19:10,683 --> 00:19:12,084
PROBLEMS, AND THEN HOPEFULLY

527
00:19:12,084 --> 00:19:13,286
TREAT THEM.

528
00:19:13,286 --> 00:19:15,254
SO THAT'S THE SIMPLE

529
00:19:15,254 --> 00:19:16,689
DIFFERENTIAL DIAGNOSTIC MODEL.

530
00:19:16,689 --> 00:19:17,890
BUT OF COURSE IT'S NEVER THAT

531
00:19:17,890 --> 00:19:19,091
SIMPLE.

532
00:19:19,091 --> 00:19:20,726
RARELY THAT SIMPLE.

533
00:19:20,726 --> 00:19:23,696
THERE'S OFTEN NUANCES,

534
00:19:23,696 --> 00:19:25,198
COMPLICATIONS, AND IT'S VERY,

535
00:19:25,198 --> 00:19:28,267
VERY COMMON FOR THIS PROCESS TO

536
00:19:28,267 --> 00:19:29,702
HAVE TO LOOP OR ITERATE.

537
00:19:29,702 --> 00:19:34,507
THAT IS, AFTER ONE PASS OF THE

538
00:19:34,507 --> 00:19:35,808
TEST, THERE'S SOME HEAD

539
00:19:35,808 --> 00:19:36,409
SCRATCHING, MAYBE IT ANSWERS

540
00:19:36,409 --> 00:19:38,878
SOME QUESTIONS BUT NOT OTHERS,

541
00:19:38,878 --> 00:19:39,979
BUT MAYBE ALL OF THE

542
00:19:39,979 --> 00:19:41,481
CONSIDERATIONS ON THE LIST WERE

543
00:19:41,481 --> 00:19:42,381
EXCLUDED SO THEN YOU HAVE TO

544
00:19:42,381 --> 00:19:43,583
START OVER AND THINK, WELL,

545
00:19:43,583 --> 00:19:46,986
MAYBE I WASN'T THINKING OF THE

546
00:19:46,986 --> 00:19:47,620
POSSIBLE DIAGNOSIS RIGHT.

547
00:19:47,620 --> 00:19:49,489
SO THIS PROCESS CAN GO ON.

548
00:19:49,489 --> 00:19:51,791
NOW, THIS LITTLE LOOP HERE ON

549
00:19:51,791 --> 00:19:53,226
THE SLIDE, THIS LOOKS LIKE KIND

550
00:19:53,226 --> 00:19:57,029
OF NEAT HERE, BUT THIS IS A

551
00:19:57,029 --> 00:19:58,931
MISERABLE GIGANTIC PROBLEM IN

552
00:19:58,931 --> 00:20:00,099
OUR HEALTHCARE SYSTEM.

553
00:20:00,099 --> 00:20:02,401
THIS IS WHAT WE IN GENETICS CALL

554
00:20:02,401 --> 00:20:04,804
THE DIAGNOSTIC ODYSSEY, AND THIS

555
00:20:04,804 --> 00:20:10,376
CAN GO ON FOR WEEKS, MONTHS,

556
00:20:10,376 --> 00:20:13,779
YEARS, DECADES, AND SOME PEOPLE

557
00:20:13,779 --> 00:20:17,717
WILL END UP LEAVING US, AND THIS

558
00:20:17,717 --> 00:20:19,685
PROCESS NEVER GETS TO THE END.

559
00:20:19,685 --> 00:20:21,587
THE DIAGNOSIS IS NEVER ACHIEVED,

560
00:20:21,587 --> 00:20:23,055
AND TREATMENT IS NEVER

561
00:20:23,055 --> 00:20:24,023
IMPLEMENTED.

562
00:20:24,023 --> 00:20:26,125
IT'S A GIGANTIC PROBLEM.

563
00:20:26,125 --> 00:20:29,095
AND ONE PART OF THAT PROBLEM,

564
00:20:29,095 --> 00:20:31,264
THE BIG FLAW, THE ACHILLES HEEL

565
00:20:31,264 --> 00:20:34,100
IN THIS WHOLE PROCESS IS THAT IF

566
00:20:34,100 --> 00:20:37,703
THE CLINICIAN DOESN'T EVEN

567
00:20:37,703 --> 00:20:40,239
CONSIDER THE CORRECT DIAGNOSIS,

568
00:20:40,239 --> 00:20:41,874
THEY WON'T ORDER THE RIGHT TEST

569
00:20:41,874 --> 00:20:42,975
BECAUSE THEY CAN'T ORDER IT

570
00:20:42,975 --> 00:20:43,809
BECAUSE THEY'RE NOT THINKING OF

571
00:20:43,809 --> 00:20:45,278
THE RIGHT CONDITION THAT COULD

572
00:20:45,278 --> 00:20:48,548
EXPLAIN THE PATIENT'S SYMPTOMS.

573
00:20:48,548 --> 00:20:50,182
SO YOU TOTALLY ARE RELIANT ON

574
00:20:50,182 --> 00:20:51,918
YOUR PRIMARY CARE DOC OR THE

575
00:20:51,918 --> 00:20:53,052
SPECIALIST WHO'S TAKING CARE OF

576
00:20:53,052 --> 00:20:55,888
YOU TO KNOW WHAT THE RIGHT

577
00:20:55,888 --> 00:20:56,889
CONSIDERATION IS IN ORDER TO

578
00:20:56,889 --> 00:21:05,264
MOVE YOU THROUGH THIS PROCESS.

579
00:21:05,264 --> 00:21:06,265
SO THE PROBLEM IS THAT THERE'S A

580
00:21:06,265 --> 00:21:07,133
LOT OF DISEASES.

581
00:21:07,133 --> 00:21:08,801
A LOT OF DISEASES.

582
00:21:08,801 --> 00:21:09,969
AND IT'S TRUE, WE SAY IN

583
00:21:09,969 --> 00:21:11,003
MEDICINE ALL THE TIME, COMMON

584
00:21:11,003 --> 00:21:12,138
THINGS ARE COMMON, AND THE OLD

585
00:21:12,138 --> 00:21:15,741
SAYING IS, IF YOU'RE IN CENTRAL

586
00:21:15,741 --> 00:21:17,543
PARK, AND YOU HEAR HOOFBEATS,

587
00:21:17,543 --> 00:21:18,744
DON'T THINK OF ZEBRAS.

588
00:21:18,744 --> 00:21:19,946
THINK OF HORSES.

589
00:21:19,946 --> 00:21:22,682
BUT THE PROBLEM IS, LOTS AND

590
00:21:22,682 --> 00:21:25,318
LOTS OF PEOPLE DON'T HAVE A

591
00:21:25,318 --> 00:21:26,819
HORSE FOR A DISEASE, THEY

592
00:21:26,819 --> 00:21:29,021
ACTUALLY HAVE A ZEBRA.

593
00:21:29,021 --> 00:21:32,091
AND THE CHALLENGE IS, HOW WE GET

594
00:21:32,091 --> 00:21:33,059
THOSE PEOPLE THROUGH THAT

595
00:21:33,059 --> 00:21:35,595
PROCESS.

596
00:21:35,595 --> 00:21:38,764
SO THERE'S MANY DISEASES.

597
00:21:38,764 --> 00:21:39,865
HOW MANY DO YOU THINK YOUR

598
00:21:39,865 --> 00:21:43,002
DOCTOR KNOWS, OFF THE TOP OF HIS

599
00:21:43,002 --> 00:21:44,770
OR HER HEAD.

600
00:21:44,770 --> 00:21:46,105
COULD THEY LIST OFF ALL THESE

601
00:21:46,105 --> 00:21:47,406
RARE DISEASES AND ALL THEIR

602
00:21:47,406 --> 00:21:47,740
SYMPTOMS?

603
00:21:47,740 --> 00:21:49,375
SO WE HAVE TO BE COMPASSIONATE

604
00:21:49,375 --> 00:21:50,576
AND THOUGHTFUL AND REASONABLE

605
00:21:50,576 --> 00:21:51,978
ABOUT THIS.

606
00:21:51,978 --> 00:21:55,481
IT'S PROBABLY BEYOND REASONABLE

607
00:21:55,481 --> 00:21:56,148
HUMAN EXPECTATIONS TO THINK THAT

608
00:21:56,148 --> 00:21:58,884
EVERY DOCTOR CAN KNOW EVERY

609
00:21:58,884 --> 00:21:59,418
DISEASE.

610
00:21:59,418 --> 00:22:01,320
IT'S JUST TOTALLY UNREASONABLE.

611
00:22:01,320 --> 00:22:03,356
SO WHAT TOOLS COULD WE PROVIDE

612
00:22:03,356 --> 00:22:06,325
TO CLINICIANS, PRACTICING

613
00:22:06,325 --> 00:22:07,426
CLINICIANS, THAT COULD HELP THEM

614
00:22:07,426 --> 00:22:09,929
GET SUCCESSFULLY THROUGH THAT

615
00:22:09,929 --> 00:22:11,364
PROCESS MORE OFTEN WITH MORE

616
00:22:11,364 --> 00:22:13,432
PATIENT?

617
00:22:13,432 --> 00:22:15,267
SO MANY DISEASES, AND NOT ONLY

618
00:22:15,267 --> 00:22:18,004
ARE THERE MANY DISEASES, THEY

619
00:22:18,004 --> 00:22:20,773
HAVE VARIABLE SYMPTOMS.

620
00:22:20,773 --> 00:22:22,808
A SINGLE DISEASE CAN VARY IN HOW

621
00:22:22,808 --> 00:22:23,943
IT PRESENTS FROM ONE PATIENT TO

622
00:22:23,943 --> 00:22:25,778
THE NEXT.

623
00:22:25,778 --> 00:22:27,880
DISEASES CAN HAVE WHAT WE CALL

624
00:22:27,880 --> 00:22:29,949
INCOMPLETE PENETRANCE.

625
00:22:29,949 --> 00:22:31,917
THAT IS, FOR GENETIC DISEASES,

626
00:22:31,917 --> 00:22:33,653
JUST BECAUSE YOU HAVE THE GENE

627
00:22:33,653 --> 00:22:35,087
VARIANT THAT'S ASSOCIATED WITH

628
00:22:35,087 --> 00:22:36,722
THE DISEASE DOESN'T MEAN YOU

629
00:22:36,722 --> 00:22:38,457
NECESSARILY WILL HAVE THE

630
00:22:38,457 --> 00:22:40,459
MANIFESTATIONS OF THE DISEASE.

631
00:22:40,459 --> 00:22:42,862
SO THEN IF THAT'S HAPPENING,

632
00:22:42,862 --> 00:22:44,930
IT'S AN INHERITED DISEASE LIKE

633
00:22:44,930 --> 00:22:46,899
MRS. COLEMAN WAS TALKING ABOUT,

634
00:22:46,899 --> 00:22:48,200
BUT YOU'RE NOT SEEING THE

635
00:22:48,200 --> 00:22:49,502
PATTERN IN THE FAMILY BECAUSE

636
00:22:49,502 --> 00:22:52,138
NOT EVERYONE WHO HAS THE GENE

637
00:22:52,138 --> 00:22:53,039
VARIANT EVEN HAS IT.

638
00:22:53,039 --> 00:22:54,340
SO YOU'RE GOING TO HAVE A HARD

639
00:22:54,340 --> 00:22:57,610
TIME SEEING THAT IT'S A FAMILY

640
00:22:57,610 --> 00:22:59,378
HISTORY, POSITIVE FOR GENETIC

641
00:22:59,378 --> 00:23:00,146
DISEASE.

642
00:23:00,146 --> 00:23:01,781
THEN THERE'S VARIABLE

643
00:23:01,781 --> 00:23:02,448
EXPRESSIVITY.

644
00:23:02,448 --> 00:23:03,315
PATIENTS CAN HAVE PARTS OF A

645
00:23:03,315 --> 00:23:05,818
DISEASE, HAVE ONE MANIFESTATION

646
00:23:05,818 --> 00:23:07,887
VERY SEVERE, ANOTHER

647
00:23:07,887 --> 00:23:09,088
MANIFESTATION VERY MILD, AND

648
00:23:09,088 --> 00:23:10,956
RARE DISEASES CAN LOOK LIKE

649
00:23:10,956 --> 00:23:14,460
COMMON DISEASES BECAUSE OF THIS

650
00:23:14,460 --> 00:23:15,227
INCREDIBLE VARIATION.

651
00:23:15,227 --> 00:23:17,096
IT'S A HUGE PROBLEM, AND PEOPLE

652
00:23:17,096 --> 00:23:20,599
LIKE US AT THE NIH, IT'S VERY,

653
00:23:20,599 --> 00:23:24,203
VERY UNFAIR FOR US TO PRETEND

654
00:23:24,203 --> 00:23:26,372
THAT DOCS IN THE REAL WORLD, AS

655
00:23:26,372 --> 00:23:27,807
MS. COLEMAN SAID, HAVE THE

656
00:23:27,807 --> 00:23:32,078
LUXURY OF TIME AND THE ABILITY

657
00:23:32,078 --> 00:23:33,479
TO SIT AND THINK, RUB THEIR CHIN

658
00:23:33,479 --> 00:23:35,147
AND SAY, I WONDER IF THIS COULD

659
00:23:35,147 --> 00:23:35,347
BE.

660
00:23:35,347 --> 00:23:37,216
THEY DON'T HAVE THAT LUXURY.

661
00:23:37,216 --> 00:23:39,085
THEY HAVE A PATIENT IN THEIR

662
00:23:39,085 --> 00:23:41,020
CLINIC, AND THEY HAVE ANOTHER

663
00:23:41,020 --> 00:23:42,354
ONE, OR MORE, IN THE WAITING

664
00:23:42,354 --> 00:23:43,456
ROOM, AND THEY'VE GOT TO KEEP

665
00:23:43,456 --> 00:23:43,989
MOVING.

666
00:23:43,989 --> 00:23:44,990
THEY DO NOT HAVE THE LUXURY OF

667
00:23:44,990 --> 00:23:45,524
TIME.

668
00:23:45,524 --> 00:23:46,926
THEY NEED HELP, THEY NEED TOOLS.

669
00:23:46,926 --> 00:23:48,360
SO WE'RE GOING TO TALK TODAY

670
00:23:48,360 --> 00:23:50,329
ABOUT HOW WE THINK ABOUT HELPING

671
00:23:50,329 --> 00:23:53,199
PEOPLE WHO HAVE THESE MYRIAD OF

672
00:23:53,199 --> 00:23:55,367
RARE DISORDERS GET THROUGH THIS

673
00:23:55,367 --> 00:23:55,801
PROCESS.

674
00:23:55,801 --> 00:23:57,570
AND WE'RE FOCUSED HERE ON SINGLE

675
00:23:57,570 --> 00:23:58,537
GENE DISORDERS.

676
00:23:58,537 --> 00:24:00,606
THERE'S A WHOLE OTHER APPROACH

677
00:24:00,606 --> 00:24:02,374
FOR MORE COMPLEX GENETIC

678
00:24:02,374 --> 00:24:03,909
DISORDERS, BUT FOR THE SINGLE

679
00:24:03,909 --> 00:24:06,245
GENE DISORDERS, THEY'RE PROBABLY

680
00:24:06,245 --> 00:24:08,180
IN THE RANGE OF ABOUT 5,000 OF

681
00:24:08,180 --> 00:24:11,016
THESE DISEASES.

682
00:24:11,016 --> 00:24:12,418
5,000 DISTINCT DISEASES THAT ARE

683
00:24:12,418 --> 00:24:14,186
INHERITED DUE TO ALTERATIONS IN

684
00:24:14,186 --> 00:24:16,355
A SINGLE GENE.

685
00:24:16,355 --> 00:24:18,124
AND OF COURSE THEY'RE

686
00:24:18,124 --> 00:24:19,658
INDIVIDUALLY QUITE RARE.

687
00:24:19,658 --> 00:24:21,961
SOME OF THEM, THE MORE COMMON

688
00:24:21,961 --> 00:24:24,130
RARE DISEASES, IF THAT MAKES

689
00:24:24,130 --> 00:24:29,268
SENSE, AFFECTING ABOUT 1- OR 200

690
00:24:29,268 --> 00:24:29,769
PEOPLE.

691
00:24:29,769 --> 00:24:31,237
SOME OF THEM, THOUGH, MOST

692
00:24:31,237 --> 00:24:32,438
DOCTORS WILL NEVER SEE A SINGLE

693
00:24:32,438 --> 00:24:34,406
PATIENT WITH THAT CONDITION IN

694
00:24:34,406 --> 00:24:38,244
THAT CAREER.

695
00:24:38,244 --> 00:24:39,211
1 IN 100,000 OR EVEN MORE RARE.

696
00:24:39,211 --> 00:24:40,646
SO AGAIN, WE HAVE TO BE

697
00:24:40,646 --> 00:24:41,647
COMPASSIONATE AND REALISTIC AND

698
00:24:41,647 --> 00:24:43,949
SAY, ARE YOU GOING TO EXPECT THE

699
00:24:43,949 --> 00:24:46,118
PRIMARY CARE DOC OR THE PERSON

700
00:24:46,118 --> 00:24:48,754
AT THE GENERAL HOSPITAL TO KNOW

701
00:24:48,754 --> 00:24:51,791
DISEASES THAT AFFECT ONLY 1 IN

702
00:24:51,791 --> 00:24:52,925
100,000 PEOPLE?

703
00:24:52,925 --> 00:24:53,659
NOT LIKELY.

704
00:24:53,659 --> 00:24:56,595
SO HOW CAN WE GET THEM TOOLS SO

705
00:24:56,595 --> 00:24:57,930
THAT THAT CAN STILL BE A GOOD

706
00:24:57,930 --> 00:24:59,131
PATIENT CARE EXPERIENCE?

707
00:24:59,131 --> 00:25:01,433
NOW, EVEN THOUGH THESE ARE

708
00:25:01,433 --> 00:25:04,270
INDIVIDUALLY RARE DISORDERS AND

709
00:25:04,270 --> 00:25:06,772
DISEASES, YOU START ADDING THEM

710
00:25:06,772 --> 00:25:09,074
UP AND THEY AFFECT LOTS AND LOTS

711
00:25:09,074 --> 00:25:09,842
OF PEOPLE.

712
00:25:09,842 --> 00:25:12,144
AND IN FACT, WE NEED SOMETHING

713
00:25:12,144 --> 00:25:13,712
DIFFERENT THAN THIS RARE

714
00:25:13,712 --> 00:25:15,014
DISEASE, BECAUSE I THINK IT

715
00:25:15,014 --> 00:25:16,415
MISLEADS A LOT OF PEOPLE,

716
00:25:16,415 --> 00:25:18,484
BECAUSE THEY AFFECT MILLIONS AND

717
00:25:18,484 --> 00:25:21,887
MILLIONS OF AMERICANS THAT ARE

718
00:25:21,887 --> 00:25:23,189
WALKING AROUND WITH THESE

719
00:25:23,189 --> 00:25:24,190
DISEASES, MANY OF THEM

720
00:25:24,190 --> 00:25:24,623
UNDIAGNOSED.

721
00:25:24,623 --> 00:25:26,025
SO THEY ARE DIAGNOSED, IF

722
00:25:26,025 --> 00:25:27,793
THEY'RE EVER DIAGNOSED, LATER IN

723
00:25:27,793 --> 00:25:30,596
LIFE AFTER THIS LONG DIAGNOSTIC

724
00:25:30,596 --> 00:25:32,832
ODYSSEY, OFTEN AT HUGE EXPENSE

725
00:25:32,832 --> 00:25:34,233
WITH SOMETIMES LOST

726
00:25:34,233 --> 00:25:35,668
OPPORTUNITIES FOR TREATMENT

727
00:25:35,668 --> 00:25:36,669
EARLIER IN THE STAGE OF THE

728
00:25:36,669 --> 00:25:39,405
DISEASE.

729
00:25:39,405 --> 00:25:42,875
SO JOSH AND I HAVE COMPLEMENTARY

730
00:25:42,875 --> 00:25:44,410
RESEARCH APPROACHES TO THINK

731
00:25:44,410 --> 00:25:48,681
ABOUT HOW CAN WE USE LARGE SCALE

732
00:25:48,681 --> 00:25:50,749
DATA, BOTH GENOMIC AND

733
00:25:50,749 --> 00:25:54,353
ELECTRONIC HEALTH RECORD DATA,

734
00:25:54,353 --> 00:25:55,354
ACQUIRED PROSPECTIVELY ON

735
00:25:55,354 --> 00:25:57,223
PATIENTS AND DYNAMICALLY AS

736
00:25:57,223 --> 00:25:59,925
THEY'RE CARED FOR, TO ADDRESS

737
00:25:59,925 --> 00:26:02,895
THESE SYSTEM FAILURES WHERE THE

738
00:26:02,895 --> 00:26:08,801
HEALTHCARE SYSTEM, DUE T TO ITS

739
00:26:08,801 --> 00:26:11,203
INHERENT LIMITATIONS,

740
00:26:11,203 --> 00:26:12,838
LIMITATIONS OF HUMAN BEINGS

741
00:26:12,838 --> 00:26:14,273
PRACTICING HEALTHCARE, HOW CAN

742
00:26:14,273 --> 00:26:15,674
WE HELP PEOPLE GET THROUGH THOSE

743
00:26:15,674 --> 00:26:17,243
ROAD BLOCKS, THOSE CHALLENGES,

744
00:26:17,243 --> 00:26:18,644
THOSE OBSTACLES SO THEY CAN GET

745
00:26:18,644 --> 00:26:20,713
THE CARE THEY NEED AND DESERVE.

746
00:26:20,713 --> 00:26:22,915
WE THINK THAT LARGE SCALE DATA

747
00:26:22,915 --> 00:26:24,016
CAN BEGIN TO ANSWER THESE

748
00:26:24,016 --> 00:26:25,050
QUESTIONS.

749
00:26:25,050 --> 00:26:26,685
SO I'M FOCUSED ON THE GENOMICS,

750
00:26:26,685 --> 00:26:28,287
JOSH IS GOING TO FOCUS MORE ON

751
00:26:28,287 --> 00:26:29,355
THE ELECTRONIC HEALTH RECORD

752
00:26:29,355 --> 00:26:31,457
DATA.

753
00:26:31,457 --> 00:26:33,325
SO IN THE GENOME INSTITUTE, THIS

754
00:26:33,325 --> 00:26:34,860
IS A GRAPH WE LOVE TO SHOW, AND

755
00:26:34,860 --> 00:26:38,464
THIS IS THE COST OF GENOME

756
00:26:38,464 --> 00:26:40,332
SEQUENCING.

757
00:26:40,332 --> 00:26:42,735
WHAT YOU CAN SEE HERE IS ABOUT A

758
00:26:42,735 --> 00:26:44,603
23-YEAR HISTORY OF GENOME COSTS,

759
00:26:44,603 --> 00:26:48,974
AND IT STARTS AT AROUND

760
00:26:48,974 --> 00:26:52,044
$100 MILLION TO SEQUENCE ONE

761
00:26:52,044 --> 00:26:55,414
GENOME IN 2001.

762
00:26:55,414 --> 00:26:57,483
NOW IT COSTS -- LAST YEAR IT WAS

763
00:26:57,483 --> 00:27:00,352
A THOUSAND, AND OUR SEQUENCING

764
00:27:00,352 --> 00:27:02,187
CENTER JUST BOUGHT A NEW MACHINE

765
00:27:02,187 --> 00:27:03,389
AND THEY'RE GOING TO START DOING

766
00:27:03,389 --> 00:27:08,327
GENOMES FOR US FOR $400.

767
00:27:08,327 --> 00:27:10,496
SO SEQUENCING THE ENTIRE

768
00:27:10,496 --> 00:27:11,063
GENOMES.

769
00:27:11,063 --> 00:27:12,498
THIS COLLAPSING COST COMPLETELY

770
00:27:12,498 --> 00:27:13,232
CHANGES THE GAME.

771
00:27:13,232 --> 00:27:15,968
HOW WE THINK ABOUT DIAGNOSING

772
00:27:15,968 --> 00:27:18,270
GENETIC DISEASE IS COMPLETELY

773
00:27:18,270 --> 00:27:19,238
DIFFERENT WHEN YOU'RE AT THE

774
00:27:19,238 --> 00:27:21,240
LEFT SIDE OF THIS GRAPH VERSUS

775
00:27:21,240 --> 00:27:22,775
WHEN YOU'RE AT THE RIGHT SIDE OF

776
00:27:22,775 --> 00:27:26,912
THIS GRAPH.

777
00:27:26,912 --> 00:27:28,213
SO THE NEW REALITY FOR GENETIC

778
00:27:28,213 --> 00:27:28,881
TESTING IS THIS.

779
00:27:28,881 --> 00:27:31,850
SO TODAY, AND I APOLOGIZE, THESE

780
00:27:31,850 --> 00:27:33,819
ARE KIND OF MADE-UP NUMBERS

781
00:27:33,819 --> 00:27:35,654
BECAUSE THE TRUTH IS, IN OUR

782
00:27:35,654 --> 00:27:37,957
HEALTHCARE SYSTEM, NOBODY REALLY

783
00:27:37,957 --> 00:27:42,428
KNOWS WHAT ANYTHING COSTS.

784
00:27:42,428 --> 00:27:44,730
BUT THIS IS KIND OF BALLPARKING

785
00:27:44,730 --> 00:27:45,531
AND IT MAKES THE POINT.

786
00:27:45,531 --> 00:27:47,466
SO HERE'S THE WEIRD THING ABOUT

787
00:27:47,466 --> 00:27:48,033
GENETIC TESTING.

788
00:27:48,033 --> 00:27:49,335
A SINGLE GENE TEST PROBABLY

789
00:27:49,335 --> 00:27:52,137
COSTS IN THE RANGE OF $250 TO

790
00:27:52,137 --> 00:27:55,474
1,000 BUCKS THESE DAYS.

791
00:27:55,474 --> 00:27:56,675
A GENE PANEL TEST, WHICH IS

792
00:27:56,675 --> 00:27:57,776
GETTING TO BE MORE AND MORE

793
00:27:57,776 --> 00:27:59,278
COMMON WHERE YOU TAKE A SET OF

794
00:27:59,278 --> 00:28:01,714
GENES THAT ARE RESPONSIBLE FOR A

795
00:28:01,714 --> 00:28:04,683
SET OF RELATED OVERLAPPING

796
00:28:04,683 --> 00:28:09,021
DISORDERS, LET'S SAY A KIDNEY

797
00:28:09,021 --> 00:28:11,223
FAILURE GENE PANEL, THEN THESE

798
00:28:11,223 --> 00:28:12,791
PANELS INCLUDE SOMETIMES 2 TO 50

799
00:28:12,791 --> 00:28:13,425
GENES.

800
00:28:13,425 --> 00:28:18,130
PANELS CAN COST 250 TO $1,000.

801
00:28:18,130 --> 00:28:18,998
OKAY?

802
00:28:18,998 --> 00:28:22,835
ALL RIGHT?

803
00:28:22,835 --> 00:28:24,603
THEN YOU CAN ALSO ORDER ON A

804
00:28:24,603 --> 00:28:25,471
PATIENT AN EXOME.

805
00:28:25,471 --> 00:28:26,905
I WAS JUST ON A CONFERENCE CALL

806
00:28:26,905 --> 00:28:28,173
YESTERDAY WHERE A COLLEAGUE WAS

807
00:28:28,173 --> 00:28:30,609
TELLING ME THAT A CLINICAL

808
00:28:30,609 --> 00:28:32,311
TESTING COMPANY IN THE MIDWEST,

809
00:28:32,311 --> 00:28:36,515
IN THE U.S., IS NOW MARKETING

810
00:28:36,515 --> 00:28:37,950
EXOME -- CLINICAL EXOME

811
00:28:37,950 --> 00:28:39,918
SEQUENCING FOR 2500 BUCKS.

812
00:28:39,918 --> 00:28:40,986
NOW YOU SAY WAIT A MINUTE, LOOK

813
00:28:40,986 --> 00:28:41,887
AT THESE NUMBERS.

814
00:28:41,887 --> 00:28:44,289
WHAT AM I GETTING FOR MY MONEY

815
00:28:44,289 --> 00:28:44,490
HERE?

816
00:28:44,490 --> 00:28:45,924
IN THE FIRST EXAMPLE, I'M

817
00:28:45,924 --> 00:28:47,993
GETTING ONE GENE TESTED.

818
00:28:47,993 --> 00:28:50,295
SO I'M PAYING 250 TO $1,000 TO

819
00:28:50,295 --> 00:28:51,597
GET THAT ONE GENE TEST.

820
00:28:51,597 --> 00:28:54,900
WITH THE PANEL, I'M PAYING

821
00:28:54,900 --> 00:28:57,736
BETWEEN 25 AND $5,500 A GENE.

822
00:28:57,736 --> 00:29:00,873
WITH AN EXOME, I'M PAYING 50

823
00:29:00,873 --> 00:29:04,410
CENTS.

824
00:29:04,410 --> 00:29:08,447
50 CENTS PER GENE.

825
00:29:08,447 --> 00:29:10,082
SO IF THAT'S TRUE, THEN I NEED

826
00:29:10,082 --> 00:29:12,384
TO THINK ABOUT GENETIC TESTING

827
00:29:12,384 --> 00:29:13,152
COMPLETELY DIFFERENTLY THAN HOW

828
00:29:13,152 --> 00:29:15,120
I THOUGHT ABOUT IT 20 YEARS AGO.

829
00:29:15,120 --> 00:29:16,855
SO THE OLD PARADIGM WAS THE

830
00:29:16,855 --> 00:29:18,624
PATIENT WAS REFERRED THROUGH

831
00:29:18,624 --> 00:29:21,026
THIS CASCADE OF DOCTORS AND

832
00:29:21,026 --> 00:29:21,894
SPECIALISTS, AND WHAT WILL

833
00:29:21,894 --> 00:29:23,796
HAPPEN IS THEY WOULD ORDER ONE

834
00:29:23,796 --> 00:29:24,863
TEST AND THEN THEY'D ORDER

835
00:29:24,863 --> 00:29:26,165
ANOTHER TEST AND THEN THEY'D

836
00:29:26,165 --> 00:29:27,699
ORDER ANOTHER TEST AND THAT'S OF

837
00:29:27,699 --> 00:29:28,867
COURSE, YOU KNOW, EVERY TIME I

838
00:29:28,867 --> 00:29:31,870
SAY THAT, THAT'S 250 TO $1,000 A

839
00:29:31,870 --> 00:29:32,271
POP.

840
00:29:32,271 --> 00:29:33,939
AND THEY CONTINUED THAT UNTIL

841
00:29:33,939 --> 00:29:36,308
SOMEBODY FINALLY THOUGHT OF THE

842
00:29:36,308 --> 00:29:37,676
RIGHT TEST TO ORDER, ORDERED

843
00:29:37,676 --> 00:29:38,744
THAT ONE, AND THE PATIENT GOT

844
00:29:38,744 --> 00:29:40,612
THEIR DIAGNOSIS.

845
00:29:40,612 --> 00:29:43,649
BUT, WE COULD DO THIS COMPLETELY

846
00:29:43,649 --> 00:29:45,317
DIFFERENTLY.

847
00:29:45,317 --> 00:29:46,185
WE COULD SEQUENCE A PATIENT

848
00:29:46,185 --> 00:29:47,719
EARLY IN LIFE AND JUST SEQUENCE

849
00:29:47,719 --> 00:29:49,688
THEIR ENTIRE EXOME OR THEIR

850
00:29:49,688 --> 00:29:50,322
ENTIRE GENOME.

851
00:29:50,322 --> 00:29:51,223
SEQUENCE ALL THE GENES.

852
00:29:51,223 --> 00:29:53,392
IT COSTS $2,500.

853
00:29:53,392 --> 00:29:55,394
AND THEN DURING THAT PATIENT'S

854
00:29:55,394 --> 00:29:57,763
LIFETIME, YOU CAN BEGIN TO FLAG

855
00:29:57,763 --> 00:29:59,631
THOSE GENES THAT HAVE VARIANTS

856
00:29:59,631 --> 00:30:03,135
THAT MAY HAVE BENEFICIAL USE FOR

857
00:30:03,135 --> 00:30:05,637
THAT PATIENT, EITHER TO PREVENT

858
00:30:05,637 --> 00:30:07,206
DISEASES BEFORE THEY OCCUR,

859
00:30:07,206 --> 00:30:08,373
BECAUSE REMEMBER WITH THAT VERY

860
00:30:08,373 --> 00:30:10,342
FIRST SLIDE I SHOWED, THAT

861
00:30:10,342 --> 00:30:13,512
MULTI-STEP PROCESS, STEP NUMBER

862
00:30:13,512 --> 00:30:18,117
ONE WAS, PATIENT GETS SICK.

863
00:30:18,117 --> 00:30:19,885
THAT'S WHAT STARTS THE PROCESS.

864
00:30:19,885 --> 00:30:21,186
BUT IT DOESN'T HAVE TO BE THAT

865
00:30:21,186 --> 00:30:21,753
WAY.

866
00:30:21,753 --> 00:30:23,722
YOU CAN ACTUALLY SEQUENCE THEM

867
00:30:23,722 --> 00:30:25,457
BEFORE THEY GET SICK, AND THEN

868
00:30:25,457 --> 00:30:26,758
PREVENT THEM FROM GETTING SICK

869
00:30:26,758 --> 00:30:27,893
IN THE FIRST PLACE.

870
00:30:27,893 --> 00:30:30,395
AND THIS IS SOMETHING THAT WE'RE

871
00:30:30,395 --> 00:30:32,364
DOING NOW WITH DISEASES LIKE

872
00:30:32,364 --> 00:30:34,333
CANCER AND LIPID DISEASES, WHERE

873
00:30:34,333 --> 00:30:35,734
YOU CAN DIAGNOSE THESE BEFORE

874
00:30:35,734 --> 00:30:37,936
THEY EVEN MANIFEST AND START TO

875
00:30:37,936 --> 00:30:39,905
GET THE PATIENT TREATMENT BEFORE

876
00:30:39,905 --> 00:30:43,308
THEY RM SICK.

877
00:30:43,308 --> 00:30:43,609
 ARE SICK.

878
00:30:43,609 --> 00:30:45,811
THEN AS THE PATIENT IS AGING,

879
00:30:45,811 --> 00:30:47,446
GOING THROUGH THEIR LIFESPAN,

880
00:30:47,446 --> 00:30:50,182
THINGS WILL HAPPEN, NO DOUBT.

881
00:30:50,182 --> 00:30:51,817
AND AS SYMPTOMS ARISE, YOU CAN

882
00:30:51,817 --> 00:30:54,219
THEN SAY, OH, I HAVE THEIR WHOLE

883
00:30:54,219 --> 00:30:54,453
GENOME.

884
00:30:54,453 --> 00:30:56,321
IS THERE ANYTHING GENETIC

885
00:30:56,321 --> 00:30:57,856
DISORDER THAT IS POTENTIALLY

886
00:30:57,856 --> 00:30:59,258
RELEVANT TO THAT SYMPTOM THEY'RE

887
00:30:59,258 --> 00:31:00,459
COMING INTO MY OFFICE WITH

888
00:31:00,459 --> 00:31:01,460
TODAY?

889
00:31:01,460 --> 00:31:04,963
AND USE THEIR GENOME DYNAMICALLY

890
00:31:04,963 --> 00:31:06,598
TO MANAGE THEIR CARE.

891
00:31:06,598 --> 00:31:08,133
SO A COUPLE DEFINITIONS THAT I

892
00:31:08,133 --> 00:31:09,768
NEED TO TALK ABOUT HERE AND HOW

893
00:31:09,768 --> 00:31:12,070
WE'RE THINKING ABOUT THIS.

894
00:31:12,070 --> 00:31:14,139
GENOTYPE, THAT'S AN ATTRIBUTE OF

895
00:31:14,139 --> 00:31:16,775
AN INDIVIDUAL WHICH IS THEIR SET

896
00:31:16,775 --> 00:31:18,177
OF GENE VARIANTS THAT THEY HAVE

897
00:31:18,177 --> 00:31:19,611
IN THEIR DNA.

898
00:31:19,611 --> 00:31:20,712
THEN THEIR PHENOTYPE.

899
00:31:20,712 --> 00:31:23,782
WHICH IS PRETTY MUCH EVERYTHING

900
00:31:23,782 --> 00:31:27,819
ELSE.

901
00:31:27,819 --> 00:31:29,388
THEIR TRAITS, MANIFESTATIONS,

902
00:31:29,388 --> 00:31:30,556
THE DISEASES THEY MAY HAVE,

903
00:31:30,556 --> 00:31:31,757
THEIR LIABILITY FOR DISEASE,

904
00:31:31,757 --> 00:31:32,524
THAT'S THEIR PHENOTYPE.

905
00:31:32,524 --> 00:31:35,027
SO THEY HAVE TWO ATTRIBUTES,

906
00:31:35,027 --> 00:31:35,928
GENOTYPE AND PHENOTYPE.

907
00:31:35,928 --> 00:31:38,430
AND HOW WE THINK ABOUT THOSE TWO

908
00:31:38,430 --> 00:31:40,032
THINGS ORGANIZES THE PRINCIPLES

909
00:31:40,032 --> 00:31:41,233
OF HOW WE DIAGNOSE PATIENTS AND

910
00:31:41,233 --> 00:31:42,467
HOW WE DO RESEARCH.

911
00:31:42,467 --> 00:31:46,071
SO OUR TRADITIONAL OR OLD SCHOOL

912
00:31:46,071 --> 00:31:47,606
GENOMIC RESEARCH, HOW WE DID

913
00:31:47,606 --> 00:31:49,041
RESEARCH WHEN DAN AND I STARTED

914
00:31:49,041 --> 00:31:51,210
WORKING HERE, RIGHT, WAS, WE

915
00:31:51,210 --> 00:31:53,946
GATHERED A GROUP OF AFFECTED

916
00:31:53,946 --> 00:31:54,279
INDIVIDUALS.

917
00:31:54,279 --> 00:31:55,814
THAT WAS STEP 1.

918
00:31:55,814 --> 00:31:57,115
YOU HAD TO KNOW WHAT DISEASE YOU

919
00:31:57,115 --> 00:31:58,750
WANTED TO LOOK FOR, YOU WENT OUT

920
00:31:58,750 --> 00:32:00,219
INTO THE WORLD AND YOU RECRUITED

921
00:32:00,219 --> 00:32:02,054
PEOPLE WITH THAT DISEASE TO COME

922
00:32:02,054 --> 00:32:04,356
TO THE NIH AND BE IN OUR STUDY.

923
00:32:04,356 --> 00:32:07,392
AND YOU WOULD START WITH

924
00:32:07,392 --> 00:32:08,060
IDENTIFIED AFFECTED INDIVIDUALS.

925
00:32:08,060 --> 00:32:11,997
THEN YOU WOULD SEQUENCE THOSE

926
00:32:11,997 --> 00:32:12,864
INDIVIDUALS, AND THEN WHAT YOU

927
00:32:12,864 --> 00:32:14,299
WOULD TRY TO DO TO UNDERSTAND

928
00:32:14,299 --> 00:32:15,834
THE RELATIONSHIP BETWEEN THE

929
00:32:15,834 --> 00:32:17,603
VARIANT THAT THEY MIGHT HAVE AND

930
00:32:17,603 --> 00:32:19,137
THEIR DISEASE, BECAUSE YOU

931
00:32:19,137 --> 00:32:21,073
STARTED WITH WHATEVER VARIANTS

932
00:32:21,073 --> 00:32:23,375
THOSE PEOPLE SHARE IS RELATED TO

933
00:32:23,375 --> 00:32:24,243
THEIR DISEASE.

934
00:32:24,243 --> 00:32:25,143
PRETTY STRAIGHTFORWARD.

935
00:32:25,143 --> 00:32:27,446
AND WE DID IT THAT WAY BECAUSE

936
00:32:27,446 --> 00:32:28,847
WHEN WE STARTED HERE, I STARTED

937
00:32:28,847 --> 00:32:32,417
HERE IN '93, YOU WERE HERE IN

938
00:32:32,417 --> 00:32:34,319
THE 80s?

939
00:32:34,319 --> 00:32:34,987
'85.

940
00:32:34,987 --> 00:32:36,288
WE COULDN'T SEQUENCE ANYBODY'S

941
00:32:36,288 --> 00:32:36,622
EXOME.

942
00:32:36,622 --> 00:32:37,256
IT WASN'T HAPPENING.

943
00:32:37,256 --> 00:32:38,790
IT WAS VERY HARD TO DO.

944
00:32:38,790 --> 00:32:39,791
NO ONE COULD AFFORD IT.

945
00:32:39,791 --> 00:32:41,627
SO THIS WAS THE ONLY ECONOMICAL

946
00:32:41,627 --> 00:32:44,029
WAY TO DO IT.

947
00:32:44,029 --> 00:32:46,465
BUT THERE'S A NEW WAY TO DO IT

948
00:32:46,465 --> 00:32:47,966
NOW WITH THESE COSTS COLLAPSING.

949
00:32:47,966 --> 00:32:50,302
SO WHAT YOU CAN DO IS BRING

950
00:32:50,302 --> 00:32:53,372
PEOPLE TO THE NIH, BRING THEM IN

951
00:32:53,372 --> 00:32:54,773
VERY GENERICALLY, OPEN THE DOOR

952
00:32:54,773 --> 00:32:56,408
AND SAY COME ON AND COME INTO

953
00:32:56,408 --> 00:32:58,043
OUR STUDY, JOIN US, AND WE'RE

954
00:32:58,043 --> 00:32:59,911
GOING TO SEQUENCE EVERY ONE OF

955
00:32:59,911 --> 00:33:02,748
YOU FOR EVERY GENE.

956
00:33:02,748 --> 00:33:03,715
NOT THINK ABOUT IT.

957
00:33:03,715 --> 00:33:06,451
I'M NOT SAYING IN YOU THIS GENE,

958
00:33:06,451 --> 00:33:09,121
IN YOU THAT GENE, IN YOU, THAT

959
00:33:09,121 --> 00:33:09,788
GEEP.

960
00:33:09,788 --> 00:33:11,189
SEQUENCE EVERY GENE IN EVERY

961
00:33:11,189 --> 00:33:12,591
PERSON, AND THEN FROM THAT GROUP

962
00:33:12,591 --> 00:33:18,497
OF PEOPLE, LOOK FOR PEOPLE WHO

963
00:33:18,497 --> 00:33:20,165
SHARE A VARIANT IN A GIVEN GENE.

964
00:33:20,165 --> 00:33:22,968
WE CAN DO THAT COMPUTATIONALLY,

965
00:33:22,968 --> 00:33:25,304
FIND PEOPLE WITH JEAN VARIANTS.

966
00:33:25,304 --> 00:33:26,938
THEN WE ASK THE OPPOSITE

967
00:33:26,938 --> 00:33:29,007
QUESTION, DO THE PEOPLE WHO

968
00:33:29,007 --> 00:33:33,178
SHARE A GENE VARIANT HAVE ANY

969
00:33:33,178 --> 00:33:34,613
SHARED PHENOTYPE ATTRIBUTES?

970
00:33:34,613 --> 00:33:36,982
DO THEY SHARE ANY DISEASE

971
00:33:36,982 --> 00:33:37,449
ATTRIBUTES?

972
00:33:37,449 --> 00:33:38,984
AND YOU CAN MAKE DISCOVERIES OF

973
00:33:38,984 --> 00:33:41,386
THE RELATIONSHIP BETWEEN GENE

974
00:33:41,386 --> 00:33:43,355
VARIANTS AND DISEASE THIS WAY AS

975
00:33:43,355 --> 00:33:45,090
WELL, IN A MUCH MORE EFFICIENT

976
00:33:45,090 --> 00:33:47,626
PATTERN, AND YOU CAN ADVANCE

977
00:33:47,626 --> 00:33:49,161
SCIENCE IN THIS WAY.

978
00:33:49,161 --> 00:33:51,897
SO WHAT WE'VE DONE, WE STARTED

979
00:33:51,897 --> 00:33:56,368
WITH CLINSEQ IN 2006, STARTED

980
00:33:56,368 --> 00:33:57,703
WITH A THOUSAND PARTICIPANTS AND

981
00:33:57,703 --> 00:34:02,607
THEN WE DID 500 MORE LATER THAT

982
00:34:02,607 --> 00:34:03,709
WERE -- THE FIRST COHORT WAS

983
00:34:03,709 --> 00:34:05,944
OPEN TO ALL PARTICIPANTS, THE

984
00:34:05,944 --> 00:34:08,513
SECOND COHORT WAS OPEN, TOTALLY

985
00:34:08,513 --> 00:34:10,816
FOCUSED ON INDIVIDUALS OF

986
00:34:10,816 --> 00:34:13,018
AFRICAN AMERICAN OR AFRICAN

987
00:34:13,018 --> 00:34:14,319
DESCENT TO INCREASE OUR

988
00:34:14,319 --> 00:34:15,354
DIVERSITY, AND YOU'LL SEE WHY

989
00:34:15,354 --> 00:34:18,890
THAT WAS SO IMPORTANT, AND JOSH,

990
00:34:18,890 --> 00:34:20,225
I'M SURE, IS GOING TO TALK A LOT

991
00:34:20,225 --> 00:34:20,759
ABOUT THAT.

992
00:34:20,759 --> 00:34:25,464
WE HAVE ALSO HAVE INDIVIDUALS

993
00:34:25,464 --> 00:34:26,798
PARTICIPATING NOW IN WHAT WE

994
00:34:26,798 --> 00:34:28,433
CALL OUR SUPER COHORT THAT HAVE

995
00:34:28,433 --> 00:34:30,502
BEEN SEQUENCED AT THE

996
00:34:30,502 --> 00:34:31,937
TRANSLATIONAL MEDICINE INSTITUTE

997
00:34:31,937 --> 00:34:36,541
ACROSS THE RIVER, NIAID

998
00:34:36,541 --> 00:34:37,843
SEQUENCES INDIVIDUALS AND

999
00:34:37,843 --> 00:34:39,611
CONTRIBUTES THOSE SEQUENCES TO

1000
00:34:39,611 --> 00:34:45,283
OUR DATABASE, AND THE NIEHS HAS

1001
00:34:45,283 --> 00:34:48,620
A -- THEY'VE SEQUENCED 5,000

1002
00:34:48,620 --> 00:34:48,920
INDIVIDUALS.

1003
00:34:48,920 --> 00:34:50,655
SO WE HAVE THESE INDIVIDUALS'

1004
00:34:50,655 --> 00:34:52,424
GENOMES AND EXOME, WE CAN GO

1005
00:34:52,424 --> 00:34:53,925
THROUGH THOSE, SEARCH FOR

1006
00:34:53,925 --> 00:34:55,060
VARIANTS AND ASK QUESTIONS, DO

1007
00:34:55,060 --> 00:34:57,462
THE PEOPLE WHO HAVE THESE

1008
00:34:57,462 --> 00:35:00,098
VARIANTS SHARE ANY HEALTH

1009
00:35:00,098 --> 00:35:00,399
ATTRIBUTES?

1010
00:35:00,399 --> 00:35:02,734
WE HAVE AN EXAMPLE OF ONE.

1011
00:35:02,734 --> 00:35:04,269
SO WE SEARCHED THROUGH AND

1012
00:35:04,269 --> 00:35:06,671
LOOKED AT A GENE CALLED TTR, AND

1013
00:35:06,671 --> 00:35:11,276
WE SCREENED FOR VARIANTS IN THIS

1014
00:35:11,276 --> 00:35:12,377
GENE.

1015
00:35:12,377 --> 00:35:14,012
THIS IS A HIGHLY VARIABLE

1016
00:35:14,012 --> 00:35:15,347
DISORDER.

1017
00:35:15,347 --> 00:35:18,917
THE FORMAL NAME IS ASSOCIATED

1018
00:35:18,917 --> 00:35:20,886
WITH VARIANTS IN A GENE CALLED

1019
00:35:20,886 --> 00:35:21,319
TTR.

1020
00:35:21,319 --> 00:35:23,221
THE WAY THIS DISEASE IS CAUSED

1021
00:35:23,221 --> 00:35:25,957
IS THAT THE GENE VARIANT

1022
00:35:25,957 --> 00:35:27,592
ACTUALLY STRUCTURALLY SLIGHTLY

1023
00:35:27,592 --> 00:35:30,629
DESTABILIZES THE PROTEIN, THE

1024
00:35:30,629 --> 00:35:32,297
PROTEINS THEN CLUMP TOGETHER OR

1025
00:35:32,297 --> 00:35:35,033
AGGREGATE, AND THEN THOSE

1026
00:35:35,033 --> 00:35:36,668
AGGREGATES OF THAT PROTEIN

1027
00:35:36,668 --> 00:35:38,203
ACCUMULATE IN CERTAIN TISSUES

1028
00:35:38,203 --> 00:35:44,109
AND CAUSE SYMPTOMS OF DISEASE.

1029
00:35:44,109 --> 00:35:45,310
THERE'S A WIDE RANGE OF DISEASE

1030
00:35:45,310 --> 00:35:46,711
JUST LIKE I TALKED ABOUT

1031
00:35:46,711 --> 00:35:47,579
EARLIER, HIGHLY VARIABLE FROM

1032
00:35:47,579 --> 00:35:48,914
ONE PERSON TO THE NEXT.

1033
00:35:48,914 --> 00:35:52,751
THIS IS AN ADULT ONSET

1034
00:35:52,751 --> 00:35:53,852
MULTISYSTEM DISORDER DUE TO THE

1035
00:35:53,852 --> 00:35:54,953
BUILDUP OF THAT PROTEIN IN

1036
00:35:54,953 --> 00:35:56,354
DIFFERENT TISSUES, AND IT'S

1037
00:35:56,354 --> 00:35:57,923
CALLED AMYLOID, AND IT IS

1038
00:35:57,923 --> 00:35:59,558
ASSOCIATED WITH CARDIOMYOPATHY

1039
00:35:59,558 --> 00:36:03,161
OR HEART FAILURE, PERIPHERAL

1040
00:36:03,161 --> 00:36:06,698
NEUROPATHY, MOST COMMONLY CARPAL

1041
00:36:06,698 --> 00:36:08,200
TUNNEL SYNDROME BUT IT CAN BE

1042
00:36:08,200 --> 00:36:11,069
ANY PERIPHERAL NEUROPATHY,

1043
00:36:11,069 --> 00:36:13,271
GLAUCOMA OR CATARACTS, KIDNEY

1044
00:36:13,271 --> 00:36:13,805
DISEASE.

1045
00:36:13,805 --> 00:36:14,673
AND WHAT'S REALLY IMPORTANT

1046
00:36:14,673 --> 00:36:16,107
ABOUT THIS ONE IS THIS ISN'T

1047
00:36:16,107 --> 00:36:19,144
JUST THE SCIENTIFIC CURIOSITY.

1048
00:36:19,144 --> 00:36:21,246
THIS IS REALLY A MEDICALLY VERY

1049
00:36:21,246 --> 00:36:22,180
IMPORTANT DISORDER BECAUSE IN

1050
00:36:22,180 --> 00:36:27,252
THE PAST TWO YEARS, THE FDA HAS

1051
00:36:27,252 --> 00:36:27,752
APPROVED FIVE DIFFERENT

1052
00:36:27,752 --> 00:36:28,820
THERAPIES THAT HAVE BEEN SHOWN

1053
00:36:28,820 --> 00:36:32,424
TO BE EFFECTIVE FOR STOPPING THE

1054
00:36:32,424 --> 00:36:36,761
PROGRESSION OF THE SICTS SYMPTOF

1055
00:36:36,761 --> 00:36:37,462
THE DISEASE IN THE INDIVIDUALS

1056
00:36:37,462 --> 00:36:38,330
WHO HAVE IT.

1057
00:36:38,330 --> 00:36:39,898
AND THE BLOCKBUSTER FINDING HERE

1058
00:36:39,898 --> 00:36:41,399
IS REALLY THE INCREDIBLE

1059
00:36:41,399 --> 00:36:42,968
DISPARITY IN THIS DEELZ ACROSS

1060
00:36:42,968 --> 00:36:48,106
DIFFERENT POPULATIONS, AND THE

1061
00:36:48,106 --> 00:36:49,407
POPULATION GENOMICS SHOWS US

1062
00:36:49,407 --> 00:36:51,943
THAT ALMOST 1 IN 30 AFRICAN

1063
00:36:51,943 --> 00:36:53,144
AMERICAN INDIVIDUALS,

1064
00:36:53,144 --> 00:36:55,213
INDIVIDUALS WHOSE ANCESTORS CAME

1065
00:36:55,213 --> 00:37:01,219
FROM FAMILIES WHO WERE ENSLAVED,

1066
00:37:01,219 --> 00:37:02,354
NEARLY 1 IN 30 OF THOSE

1067
00:37:02,354 --> 00:37:03,655
INDIVIDUALS HAVE A VARIANT IN

1068
00:37:03,655 --> 00:37:05,624
THIS GENE THAT IS ASSOCIATED

1069
00:37:05,624 --> 00:37:08,493
WITH THIS DISEASE, WHEREAS IT'S

1070
00:37:08,493 --> 00:37:09,828
MUCH RARER IN NON-AFRICAN

1071
00:37:09,828 --> 00:37:10,795
AMERICAN INDIVIDUALS AND THUS

1072
00:37:10,795 --> 00:37:12,664
THERE'S A HUGE DISPARITY IN THE

1073
00:37:12,664 --> 00:37:13,632
RECOGNITION AND IMPORTANCE THAT

1074
00:37:13,632 --> 00:37:15,066
THIS RECEIVES IN OUR HEALTHCARE

1075
00:37:15,066 --> 00:37:17,202
SYSTEM.

1076
00:37:17,202 --> 00:37:18,937
SO THIS STORY ACTUALLY -- I

1077
00:37:18,937 --> 00:37:21,706
DON'T KNOW HOW MANY OF YOU READ

1078
00:37:21,706 --> 00:37:23,508
LISA SANDERS' COLUMNS IN THE

1079
00:37:23,508 --> 00:37:24,776
"NEW YORK TIMES," SHE HAS THESE

1080
00:37:24,776 --> 00:37:26,611
MEDICAL MYSTERY CASES.

1081
00:37:26,611 --> 00:37:27,812
SHE HAD AN INDIVIDUAL WHO HAD

1082
00:37:27,812 --> 00:37:31,249
THIS CONDITION A FEW -- WAS IT

1083
00:37:31,249 --> 00:37:33,184
LAST YEAR OR A COUPLE YEARS AGO,

1084
00:37:33,184 --> 00:37:35,387
I THINK IT WAS, AND IT'S A GREAT

1085
00:37:35,387 --> 00:37:38,356
EXAMPLE OF THIS SITUATION.

1086
00:37:38,356 --> 00:37:41,092
SO WHAT WE DID AGAIN, WE HAVE A

1087
00:37:41,092 --> 00:37:42,727
BROWSER THAT HAS ALL THESE

1088
00:37:42,727 --> 00:37:44,262
GENOMES AND EXOMES IN IT, AND WE

1089
00:37:44,262 --> 00:37:47,365
JUST PUT IN THE GENE TTR AND

1090
00:37:47,365 --> 00:37:49,334
ASKED TO SEE WHAT VARIANTS WE

1091
00:37:49,334 --> 00:37:51,503
HAVE, AND WE POPPED UP THESE

1092
00:37:51,503 --> 00:37:52,737
VARIANTS AND THESE ARE ALL

1093
00:37:52,737 --> 00:37:56,441
VARIANTS IN OUR COHORT OF

1094
00:37:56,441 --> 00:37:57,642
INDIVIDUALS IN OUR SEQUENCE

1095
00:37:57,642 --> 00:38:00,178
STUDY WHO HAVE VARIANTS IN THIS

1096
00:38:00,178 --> 00:38:02,480
GENE THAT HAVE BEEN SAID TO BE

1097
00:38:02,480 --> 00:38:05,417
ASSOCIATED WITH THIS DISEASE.

1098
00:38:05,417 --> 00:38:07,419
AND THE NUMBERS ARE PRETTY

1099
00:38:07,419 --> 00:38:08,086
IMPRESSIVE.

1100
00:38:08,086 --> 00:38:09,487
THERE'S MORE THAN 20 INDIVIDUALS

1101
00:38:09,487 --> 00:38:13,692
WHO HAVE THIS ONE VARIANT, AND

1102
00:38:13,692 --> 00:38:16,294
IT IS THE MOST COMMON VARIANT IN

1103
00:38:16,294 --> 00:38:18,196
INDIVIDUALS WHO, AGAIN, ARE

1104
00:38:18,196 --> 00:38:19,731
AFRICAN AMERICAN ANCESTRY, AND

1105
00:38:19,731 --> 00:38:21,900
HAS BEEN SHOWN TO BE

1106
00:38:21,900 --> 00:38:24,069
DEFINITIVELY ASSOCIATED WITH

1107
00:38:24,069 --> 00:38:25,370
THIS DISEASE, AND WHEN WE LOOK

1108
00:38:25,370 --> 00:38:29,207
ACROSS OUR COHORT, WHICH IS A

1109
00:38:29,207 --> 00:38:30,208
MINORITY OF THE INDIVIDUALS IN

1110
00:38:30,208 --> 00:38:34,379
OUR COHORT ARE OF AFRICAN

1111
00:38:34,379 --> 00:38:35,780
AMERICAN DESCENT, YOU CAN SEE

1112
00:38:35,780 --> 00:38:37,382
PEOPLE WHO HAVE THE VARIANTS,

1113
00:38:37,382 --> 00:38:39,618
THE GREAT MAJORITY OF THEM ARE

1114
00:38:39,618 --> 00:38:47,058
OF AFRICAN AMERICAN DESCENT.

1115
00:38:47,058 --> 00:38:50,895
SO MISS COLEMAN, AS YOU HEARD,

1116
00:38:50,895 --> 00:38:52,864
HAS CARDIOMYOPATHY, OVERACTIVE

1117
00:38:52,864 --> 00:38:53,965
BLADDER, LIGHT-HEADEDNESS, SHE

1118
00:38:53,965 --> 00:38:56,167
TALKED ABOUT HER THYROID

1119
00:38:56,167 --> 00:38:58,370
DISEASE, HAS SOMERMAN 'FESS

1120
00:38:58,370 --> 00:39:00,238
TAITIONS OF AUTONOMIC

1121
00:39:00,238 --> 00:39:01,640
DYSFUNCTION AND HER FAMILY

1122
00:39:01,640 --> 00:39:03,942
HISTORY IS INTRIGUING, I DON'T

1123
00:39:03,942 --> 00:39:04,776
THINK WE'VE TESTED ANY

1124
00:39:04,776 --> 00:39:05,810
INDIVIDUALS FROM HER FAMILY BUT

1125
00:39:05,810 --> 00:39:07,345
WE HAVE SEVERAL INDIVIDUALS WHO

1126
00:39:07,345 --> 00:39:09,648
ALSO HAVE COMPATIBLE

1127
00:39:09,648 --> 00:39:12,851
MANIFESTATIONS, BUT AGAIN,

1128
00:39:12,851 --> 00:39:14,252
COMPLETELY UNRECOGNIZED BY THE

1129
00:39:14,252 --> 00:39:14,919
HEALTHCARE SYSTEM.

1130
00:39:14,919 --> 00:39:17,555
ALL THE SYMPTOMS WERE THERE.

1131
00:39:17,555 --> 00:39:19,958
NOBODY PUT THE PIECES TOGETHER.

1132
00:39:19,958 --> 00:39:21,159
OKAY.

1133
00:39:21,159 --> 00:39:23,895
SO THAT'S PART 1, GENOMIC TOOLS

1134
00:39:23,895 --> 00:39:26,331
TO HELP IDENTIFY INDIVIDUALS.

1135
00:39:26,331 --> 00:39:27,966
JOSH IS GOING TO TALK ABOUT

1136
00:39:27,966 --> 00:39:34,105
EHRs.

1137
00:39:34,105 --> 00:39:34,839
>> THANK YOU, LES.

1138
00:39:34,839 --> 00:39:36,508
IT IS A PLEASURE TO BE HERE AND

1139
00:39:36,508 --> 00:39:37,609
A SPEAK WITH YOU ABOUT THE NEXT

1140
00:39:37,609 --> 00:39:38,710
PART OF THIS JOURNEY.

1141
00:39:38,710 --> 00:39:41,446
AND I'M GOING TO START WITH

1142
00:39:41,446 --> 00:39:44,516
LOOKING AT THE ELECTRONIC HEALTH

1143
00:39:44,516 --> 00:39:46,685
RECORDS THAT I SPENT A LOT OF

1144
00:39:46,685 --> 00:39:49,454
TIME LOOKING AT AS A PRACTICING

1145
00:39:49,454 --> 00:39:50,321
CLINICIAN AT VANDERBILT FOR A

1146
00:39:50,321 --> 00:39:51,856
WHILE, FOR ABOUT TWO DECADES, I

1147
00:39:51,856 --> 00:39:56,795
GUESS, AND THIS IS AROUND 2011,

1148
00:39:56,795 --> 00:39:58,296
IS WHAT OUR RECORD LOOKED LIKE.

1149
00:39:58,296 --> 00:40:00,165
THIS IS CLEARLY A FAKE PATIENT

1150
00:40:00,165 --> 00:40:00,498
HERE.

1151
00:40:00,498 --> 00:40:01,733
IF YOU'RE WORRIED ABOUT DATA

1152
00:40:01,733 --> 00:40:04,803
THAT YOU MIGHT SEE.

1153
00:40:04,803 --> 00:40:06,104
AND AS A PHYSICIAN LOOKS AT

1154
00:40:06,104 --> 00:40:08,506
THIS, IT'S A GREAT WAY TO

1155
00:40:08,506 --> 00:40:09,607
ORGANIZE THAT INDIVIDUAL RECORD

1156
00:40:09,607 --> 00:40:12,310
TO KEEP A LOG AND COMMUNICATE

1157
00:40:12,310 --> 00:40:14,746
ACROSS DIFFERENT PROVIDERS, AND

1158
00:40:14,746 --> 00:40:16,514
HAVE THAT RECORD TO MAKE SURE

1159
00:40:16,514 --> 00:40:17,649
YOU DON'T ACCIDENTALLY PRESCRIBE

1160
00:40:17,649 --> 00:40:18,917
A MEDICATION TO WHICH AN

1161
00:40:18,917 --> 00:40:20,885
INDIVIDUAL IS ALLERGIC TO, THAT

1162
00:40:20,885 --> 00:40:21,986
YOU ADJUST FOR THE RENAL

1163
00:40:21,986 --> 00:40:22,787
FUNCTION, ALL SORTS OF THINGS

1164
00:40:22,787 --> 00:40:23,988
LIKE THAT, BUT ONE OF THE THINGS

1165
00:40:23,988 --> 00:40:26,091
THAT REALLY INTRIGUED ME IS, HOW

1166
00:40:26,091 --> 00:40:27,926
COULD WE USE THESE KINDS OF

1167
00:40:27,926 --> 00:40:29,894
RESOURCES THAT WE ARE

1168
00:40:29,894 --> 00:40:31,096
AGGREGATING TONS AND TONS OF

1169
00:40:31,096 --> 00:40:34,399
DATA ON, AN A PATIENT BY PATIENT

1170
00:40:34,399 --> 00:40:37,469
APPROACH TO ACTUALLY LEARN, TO

1171
00:40:37,469 --> 00:40:40,205
LEARN TO MAKE THE SYSTEM

1172
00:40:40,205 --> 00:40:43,475
SMARTER, TO SYSTEMATIZE AND TAKE

1173
00:40:43,475 --> 00:40:44,743
THAT KNOWLEDGE AS A LEARNING

1174
00:40:44,743 --> 00:40:45,610
HEALTHCARE SYSTEM, IF YOU WILL,

1175
00:40:45,610 --> 00:40:49,114
TO APPLY IT BACK.

1176
00:40:49,114 --> 00:40:50,215
SO AT ABOUT THE SAME TIME WE

1177
00:40:50,215 --> 00:40:53,284
ALSO STARTED COLLECTING PATIENT

1178
00:40:53,284 --> 00:40:54,819
WHO AGREED TO SHARE GENETIC

1179
00:40:54,819 --> 00:40:56,821
INFORMATION FROM LEFTOVER BLOOD

1180
00:40:56,821 --> 00:40:59,124
SAMPLES, AND SO WE CREATED A

1181
00:40:59,124 --> 00:40:59,657
BIOREPOSITORY.

1182
00:40:59,657 --> 00:41:01,326
SO ONE OF THE QUESTIONS WE ASKED

1183
00:41:01,326 --> 00:41:04,162
IS WE HAVE THESE DENSE DATA, IS

1184
00:41:04,162 --> 00:41:05,930
HOW COULD WE FIND PEOPLE THAT

1185
00:41:05,930 --> 00:41:09,000
HAVE DISEASE?

1186
00:41:09,000 --> 00:41:11,836
AND USE THAT -- IF YOU'VE BEEN A

1187
00:41:11,836 --> 00:41:12,737
PHYSICIAN AND EXPLORED SOMETHING

1188
00:41:12,737 --> 00:41:15,039
THAT MAY BE A DIAGNOSTIC

1189
00:41:15,039 --> 00:41:16,341
ODYSSEY, YOU CAN GO SOMETIME

1190
00:41:16,341 --> 00:41:18,209
WITH MAYBE DIFFERENT DIAGNOSES

1191
00:41:18,209 --> 00:41:19,944
CONSIDERED, DIFFERENT THINGS IN

1192
00:41:19,944 --> 00:41:21,045
YOUR CHART BEFORE YOU FIND, FOR

1193
00:41:21,045 --> 00:41:22,147
INSTANCE, THE RIGHT MEDICATION

1194
00:41:22,147 --> 00:41:25,683
TO ACTUALLY TREAT YOUR

1195
00:41:25,683 --> 00:41:27,418
DEPRESSION, GET THE THYROID DOSE

1196
00:41:27,418 --> 00:41:29,053
ACCURATE, WHAT'S CAUSING THE

1197
00:41:29,053 --> 00:41:29,821
THYROID DISEASE.

1198
00:41:29,821 --> 00:41:31,256
ONE OF THE FIRST SUCCESSFUL

1199
00:41:31,256 --> 00:41:35,827
ATTEMPTS WE DID WAS USING

1200
00:41:35,827 --> 00:41:37,495
AUTOIMMUNE HYPOTHYROIDISM.

1201
00:41:37,495 --> 00:41:41,666
IT A VERY COMMON CONDITION, IT

1202
00:41:41,666 --> 00:41:42,867
AN AUTOIMMUNE CONDITION AND USED

1203
00:41:42,867 --> 00:41:45,403
TO BE REALLY SEVERE, BUT NOW WE

1204
00:41:45,403 --> 00:41:46,938
HAVE GREAT TREATMENTS, WE'VE HAD

1205
00:41:46,938 --> 00:41:49,374
GREAT TREATMENTS FOR DECADES,

1206
00:41:49,374 --> 00:41:54,379
AND WHAT WE FOUND IS WE FOUND A

1207
00:41:54,379 --> 00:41:57,782
VARIANT IN A GENE CALLED FOXE1,

1208
00:41:57,782 --> 00:41:59,117
WHICH ENCODES A PROTEIN THAT'S

1209
00:41:59,117 --> 00:42:01,853
INVOLVED IN THE FORMATION

1210
00:42:01,853 --> 00:42:03,054
NEUROLOGICALLY OF THE THYROID

1211
00:42:03,054 --> 00:42:04,355
AND ALSO ASSOCIATED WITH THYROID

1212
00:42:04,355 --> 00:42:06,658
CANCER, IN THIS CASE ASSOCIATED

1213
00:42:06,658 --> 00:42:07,525
WITH HYPOTHYROIDISM.

1214
00:42:07,525 --> 00:42:08,793
SO THIS SHOWED THAT YOU COULD DO

1215
00:42:08,793 --> 00:42:10,728
THIS KIND OF ANALYSIS USING

1216
00:42:10,728 --> 00:42:12,063
ELECTRONIC HEALTH RECORDS AND DO

1217
00:42:12,063 --> 00:42:13,832
THIS IN THE TYPICAL WAY.

1218
00:42:13,832 --> 00:42:14,933
AND IF YOU HAVEN'T SEEN ONE OF

1219
00:42:14,933 --> 00:42:16,234
THESE FIGURES BEFORE, WHAT WE'RE

1220
00:42:16,234 --> 00:42:19,070
LOOKING AT ON THE X AXIS ACROSS

1221
00:42:19,070 --> 00:42:21,406
THE BOTTOM ARE GENETIC LOCATIONS

1222
00:42:21,406 --> 00:42:22,907
AND VARIATION WITH THOSE

1223
00:42:22,907 --> 00:42:24,242
LOCATIONS, AND SO YOU CAN SEE

1224
00:42:24,242 --> 00:42:26,778
THAT PEAK OF POINTS THERE IN

1225
00:42:26,778 --> 00:42:28,112
CHROMOSOME 9, WHICH IS SHOWING

1226
00:42:28,112 --> 00:42:29,848
VARIATION IN THAT GENE IS

1227
00:42:29,848 --> 00:42:32,884
ASSOCIATED WITH PEOPLE WHO HAD

1228
00:42:32,884 --> 00:42:33,251
HYPOTHYROIDISM.

1229
00:42:33,251 --> 00:42:34,485
AND BY THE WAY, THIS TOOK US

1230
00:42:34,485 --> 00:42:36,788
ABOUT TWO YEARS TO DO AT THE

1231
00:42:36,788 --> 00:42:38,323
TIME, AND REALLY FIND AN

1232
00:42:38,323 --> 00:42:39,757
ACCURATE CONDITION AND ANALYSIS.

1233
00:42:39,757 --> 00:42:41,392
BUT THE OTHER THING WE THOUGHT

1234
00:42:41,392 --> 00:42:43,061
ABOUT, THIS IS THE TRADITIONAL

1235
00:42:43,061 --> 00:42:44,696
WAY SCIENCE HAD GONE IS, LET'S

1236
00:42:44,696 --> 00:42:48,733
PICK A DISEASE, LET'S ANALYZE

1237
00:42:48,733 --> 00:42:50,368
GENETIC ASSOCIATIONS AND FIND

1238
00:42:50,368 --> 00:42:52,237
WHAT PLACE MIGHT BE ASSOCIATED

1239
00:42:52,237 --> 00:42:54,472
OR SO CALLED GENOME WIDE

1240
00:42:54,472 --> 00:42:55,340
ASSOCIATION STUDY.

1241
00:42:55,340 --> 00:42:56,641
WE THOUGHT WE HAVE THE

1242
00:42:56,641 --> 00:42:57,542
ELECTRONIC HEALTH RECORD AND WE

1243
00:42:57,542 --> 00:42:58,443
HAVE ALL THE CONDITIONS FOR

1244
00:42:58,443 --> 00:42:59,410
WHICH A PATIENT IS SEEING A

1245
00:42:59,410 --> 00:43:00,011
PHYSICIAN.

1246
00:43:00,011 --> 00:43:01,512
WE ALSO HAVE ALL THEIR

1247
00:43:01,512 --> 00:43:02,247
MEDICATIONS, WE HAVE LAB

1248
00:43:02,247 --> 00:43:02,847
RESULTS.

1249
00:43:02,847 --> 00:43:03,581
THESE KINDS OF THINGS.

1250
00:43:03,581 --> 00:43:04,983
SO IT GIVES US THE ABILITY TO DO

1251
00:43:04,983 --> 00:43:06,217
THE INVERSE EXPERIMENT.

1252
00:43:06,217 --> 00:43:08,686
SO LET'S ASK, YOU KNOW, GIVEN A

1253
00:43:08,686 --> 00:43:10,955
GENETIC VARIANT, WHAT PHENOTYPES

1254
00:43:10,955 --> 00:43:12,257
MIGHT BE ASSOCIATED WITH THAT

1255
00:43:12,257 --> 00:43:14,125
GENETIC VARIANT?

1256
00:43:14,125 --> 00:43:15,226
WHAT LABORATORY ABNORMALITIES,

1257
00:43:15,226 --> 00:43:17,195
WHAT OTHER KINDS OF THINGS, NOT

1258
00:43:17,195 --> 00:43:19,264
JUST DISEASES BUT PHENOTYPES

1259
00:43:19,264 --> 00:43:21,900
THAT WE MIGHT FIND?

1260
00:43:21,900 --> 00:43:25,670
SO THAT SO CALLED PHEWAS

1261
00:43:25,670 --> 00:43:27,171
APPROACH, TAKING THAT SAME

1262
00:43:27,171 --> 00:43:29,607
GENETIC LOCUS WE FOUND IN THAT

1263
00:43:29,607 --> 00:43:30,308
GENOME-WIDE ASSOCIATION BUT

1264
00:43:30,308 --> 00:43:36,547
LOOKING AT IT IN A PHEWAS APROA.

1265
00:43:36,547 --> 00:43:37,615
HYPOTHYROIDISM IS ACTUALLY THE

1266
00:43:37,615 --> 00:43:40,251
STRONGEST SIGNAL, SO THAT MAY BE

1267
00:43:40,251 --> 00:43:42,220
REASSURING FROM THE OTHER,

1268
00:43:42,220 --> 00:43:44,222
INCLUDING ATRIAL FLUTTER.

1269
00:43:44,222 --> 00:43:46,190
SO A CARDIAC PHENOMENON.

1270
00:43:46,190 --> 00:43:47,926
IN THIS CASE PEOPLE WHO HAVE

1271
00:43:47,926 --> 00:43:49,928
BELOW ACTIVE THYROIDS ARE

1272
00:43:49,928 --> 00:43:50,995
ACTUALLY GOING TO BE LESS LIKELY

1273
00:43:50,995 --> 00:43:52,530
TO GET ATRIAL FLUTTER.

1274
00:43:52,530 --> 00:43:55,433
SO THAT IS A LOGICAL CLINICAL

1275
00:43:55,433 --> 00:43:56,301
CONCLUSION FOR WHAT WE SEE

1276
00:43:56,301 --> 00:43:56,634
THERE.

1277
00:43:56,634 --> 00:43:58,903
AND WE SEE MORE DETAIL ABOUT

1278
00:43:58,903 --> 00:44:00,004
THYROID DISEASES AS WELL.

1279
00:44:00,004 --> 00:44:01,773
SO THIS SHOWS US, WE CAN USE

1280
00:44:01,773 --> 00:44:04,409
THIS KIND OF RESOURCE, WE CAN

1281
00:44:04,409 --> 00:44:06,277
FIND LOTS OF PATIENTS USING

1282
00:44:06,277 --> 00:44:07,145
ELECTRONIC HEALTH RECORD, GET

1283
00:44:07,145 --> 00:44:08,613
THAT DENSE PHENOTYPING INSTEAD

1284
00:44:08,613 --> 00:44:11,316
OF JUST THE QUESTIONS YOU ASK

1285
00:44:11,316 --> 00:44:12,417
SOMEONE, YOU HAVE ALL REASONS

1286
00:44:12,417 --> 00:44:13,551
THEY COME TO THE DOCTOR, AND

1287
00:44:13,551 --> 00:44:17,388
THEN USING GENETIC INFORMATION,

1288
00:44:17,388 --> 00:44:19,223
ONE OF THE THINGS WE FOUND IN

1289
00:44:19,223 --> 00:44:21,025
DOING THAT IS THESE ARE FAR

1290
00:44:21,025 --> 00:44:22,327
CHEAPER THAN TRADITIONAL

1291
00:44:22,327 --> 00:44:23,528
STUDIES, AND SO THIS IS LOOKING

1292
00:44:23,528 --> 00:44:26,064
AT A CLUSTER OF DRUG EFFECT

1293
00:44:26,064 --> 00:44:29,367
STUDIES THAT WE DID COMPARED TO

1294
00:44:29,367 --> 00:44:31,002
OTHER FUNDED NIH STUDIES.

1295
00:44:31,002 --> 00:44:32,704
YOU CAN SEE THAT THE TIME TO DO

1296
00:44:32,704 --> 00:44:35,406
THE STUDY AND THE COST PERSON

1297
00:44:35,406 --> 00:44:36,708
THAT WAS PART OF THE STUDY WAS

1298
00:44:36,708 --> 00:44:38,910
FAR CHEAPER USING ELECTRONIC

1299
00:44:38,910 --> 00:44:40,912
HEALTH RECORDS THAN THE OTHER

1300
00:44:40,912 --> 00:44:43,314
STUDIES, AND FAR FASTER, AND SO

1301
00:44:43,314 --> 00:44:44,949
THAT SHOWS AGAIN THAT WE HAVE

1302
00:44:44,949 --> 00:44:46,617
SUPPORT THERE, BUT THE OTHER

1303
00:44:46,617 --> 00:44:48,720
THING THAT WAS HAPPENING AND WE

1304
00:44:48,720 --> 00:44:49,487
WERE OBSERVING AT THIS TIME

1305
00:44:49,487 --> 00:44:50,688
THROUGH ALL THE RESEARCH OUT

1306
00:44:50,688 --> 00:44:53,124
THERE WAS HIGHLY BIASED TOWARDS

1307
00:44:53,124 --> 00:44:54,459
PEOPLE WHO ARE OF EUROPEAN

1308
00:44:54,459 --> 00:44:54,993
ANCESTRY.

1309
00:44:54,993 --> 00:44:57,762
EITHER IN THE U.S. █OR IN EUROP,

1310
00:44:57,762 --> 00:45:01,432
BASICALLY SELF-IDENTIFIED WHITE

1311
00:45:01,432 --> 00:45:02,600
INDIVIDUALS, WHICH WERE BY FAR

1312
00:45:02,600 --> 00:45:04,469
AND AWAY THE MOST COMMON

1313
00:45:04,469 --> 00:45:06,137
INDIVIDUALS THAT HAD GENETIC

1314
00:45:06,137 --> 00:45:06,404
ANALYSES.

1315
00:45:06,404 --> 00:45:08,573
IN FACT, THESE ARE THE DATA FROM

1316
00:45:08,573 --> 00:45:08,873
NOW.

1317
00:45:08,873 --> 00:45:10,208
THESE AREN'T THE DATA FROM THEN.

1318
00:45:10,208 --> 00:45:11,442
SO IF YOU LOOK TODAY AND LOOK AT

1319
00:45:11,442 --> 00:45:14,178
ALL THE GENOMIC ASSOCIATION

1320
00:45:14,178 --> 00:45:15,580
STUDY, 94% OF THE PEOPLE IN

1321
00:45:15,580 --> 00:45:17,382
THOSE STUDIES ARE

1322
00:45:17,382 --> 00:45:18,583
SELF-IDENTIFIED WHITE OR

1323
00:45:18,583 --> 00:45:20,985
EUROPEAN GENETIC ANCESTRY.

1324
00:45:20,985 --> 00:45:23,621
SO THAT'S A REAL PROBLEM.

1325
00:45:23,621 --> 00:45:24,622
THAT CAUSES ALL SORTS OF

1326
00:45:24,622 --> 00:45:25,823
PROBLEMS IN UNDERSTANDING THE

1327
00:45:25,823 --> 00:45:27,358
IMPACT OF GENETIC VARIANTS, IT

1328
00:45:27,358 --> 00:45:28,493
CAUSES PROBLEMS IN US

1329
00:45:28,493 --> 00:45:29,460
UNDERSTANDING WHAT GENES CAUSE

1330
00:45:29,460 --> 00:45:30,094
DISEASE.

1331
00:45:30,094 --> 00:45:33,064
IT CAUSES PROBLEMS IN EVEN

1332
00:45:33,064 --> 00:45:34,532
CLASSIFYING VARIANTS ON PEOPLE

1333
00:45:34,532 --> 00:45:35,633
WHO ARE WHITE.

1334
00:45:35,633 --> 00:45:38,269
AND WHO ARE OF EUROPEAN

1335
00:45:38,269 --> 00:45:39,637
ANCESTRY.

1336
00:45:39,637 --> 00:45:40,671
AND SO -- AND OF COURSE IT'S A

1337
00:45:40,671 --> 00:45:42,707
BIG PROBLEM WITH EQUITY THAT WE

1338
00:45:42,707 --> 00:45:44,308
WOULD LOVE TO ADDRESS.

1339
00:45:44,308 --> 00:45:46,711
AND SO NOW ENTERS THE ALL-OF-US

1340
00:45:46,711 --> 00:45:47,278
RESEARCH PROGRAM.

1341
00:45:47,278 --> 00:45:51,549
THIS WAS ANNOUNCED AS

1342
00:45:51,549 --> 00:45:52,917
DR. KASTNER ALLUDED TO IN THE

1343
00:45:52,917 --> 00:45:56,687
2015 STATE OF THE UNION ADDRESS

1344
00:45:56,687 --> 00:45:58,256
TO ADVANCE PRECISION MEDICINE

1345
00:45:58,256 --> 00:46:00,425
AND THE PRECISION MEDICINE

1346
00:46:00,425 --> 00:46:01,759
INITIATIVE WHICH THE COWORK

1347
00:46:01,759 --> 00:46:03,094
PROGRAM BECAME KNOWN AS THE

1348
00:46:03,094 --> 00:46:03,861
ALL-OF-US RESEARCH PROGRAM.

1349
00:46:03,861 --> 00:46:06,464
THE GOAL IS TO PARTNER WITH NOT

1350
00:46:06,464 --> 00:46:07,131
JUST RESEARCH SUBJECTS BUT

1351
00:46:07,131 --> 00:46:09,700
PARTNER WITH PARTICIPANTS AT AT

1352
00:46:09,700 --> 00:46:11,235
LEAST A MILLION DIVERSE

1353
00:46:11,235 --> 00:46:12,203
PARTICIPANTS ACROSS THE UNITED

1354
00:46:12,203 --> 00:46:13,971
STATES TO ACCELERATE RESEARCH

1355
00:46:13,971 --> 00:46:15,440
AND IMPROVE HEALTH, AND THE

1356
00:46:15,440 --> 00:46:19,143
MISSION THERE, ACCELERATE

1357
00:46:19,143 --> 00:46:22,313
RESEARCH AND MEDICAL

1358
00:46:22,313 --> 00:46:23,848
BREAKTHROUGHS, ENABLING

1359
00:46:23,848 --> 00:46:24,682
INDIVIDUALIZED PREVENTION,

1360
00:46:24,682 --> 00:46:25,950
TREATMENT AND CARE FOR ALL OF

1361
00:46:25,950 --> 00:46:27,385
US, TO TACKLE THE EQUITY GAP

1362
00:46:27,385 --> 00:46:28,719
THAT WE HAVE IN HEALTHCARE IN

1363
00:46:28,719 --> 00:46:29,921
THIS COUNTRY AND IN THE WORLD.

1364
00:46:29,921 --> 00:46:33,524
THERE'S A SCREEN SCREENSHOT FROR

1365
00:46:33,524 --> 00:46:34,125
ORIGINAL BLUEPRINT OF THE

1366
00:46:34,125 --> 00:46:35,760
PROGRAM IN 2015.

1367
00:46:35,760 --> 00:46:37,061
DR. FRANCIS COLLINS WAS THE NIH

1368
00:46:37,061 --> 00:46:39,630
DIRECTOR AT THE TIME, AND REALLY

1369
00:46:39,630 --> 00:46:40,398
HIGHLIGHTED THE IMPORTANCE OF

1370
00:46:40,398 --> 00:46:41,499
THIS.

1371
00:46:41,499 --> 00:46:44,135
WE LAUNCHED NATIONALLY IN 2018.

1372
00:46:44,135 --> 00:46:46,637
SINCE THEN, WE'VE HAD OVER THREE

1373
00:46:46,637 --> 00:46:47,572
QUARTERS OF A MILLION PEOPLE

1374
00:46:47,572 --> 00:46:49,173
THAT HAVE CONSENTED TO BE PART

1375
00:46:49,173 --> 00:46:49,841
OF THE STUDY.

1376
00:46:49,841 --> 00:46:51,409
YOU CAN SEE NUMBERS THERE, WE

1377
00:46:51,409 --> 00:46:54,245
HAVE OVER 530,000 THAT HAVE

1378
00:46:54,245 --> 00:46:57,215
DONATED BIOSMES MEN, THAT

1379
00:46:57,215 --> 00:46:59,984
INCLUDES DNA, OTHER BIOSMES MENS

1380
00:46:59,984 --> 00:47:03,921
AS WELL, AND YOU CAN SEE --

1381
00:47:03,921 --> 00:47:05,990
PARTICIPANTS FROM ALL STATES IN

1382
00:47:05,990 --> 00:47:07,458
THE U.S. AND MOST U.S.

1383
00:47:07,458 --> 00:47:08,559
TERRITORIES.

1384
00:47:08,559 --> 00:47:09,627
SO WHAT DO WE DO WITH THE

1385
00:47:09,627 --> 00:47:10,061
PROGRAM?

1386
00:47:10,061 --> 00:47:12,997
SO IN THE PROGRAM, WE COLLECT --

1387
00:47:12,997 --> 00:47:14,499
YOU CAN COME IN ALL SORTS OF

1388
00:47:14,499 --> 00:47:15,533
DIFFERENT KINDS OF WAYS.

1389
00:47:15,533 --> 00:47:18,803
YOU CAN COME IN THROUGH A

1390
00:47:18,803 --> 00:47:19,470
HEALTHCARE PROVIDER ORGANIZATION

1391
00:47:19,470 --> 00:47:22,240
AND THAT'S THE MOST COMMON

1392
00:47:22,240 --> 00:47:23,407
RECORD PATH, BUT YOU CAN ALSO GO

1393
00:47:23,407 --> 00:47:25,409
TO THE WEBSITE, DOWNLOAD A

1394
00:47:25,409 --> 00:47:29,380
SMARTPHONE APP, JOIN AND GET A

1395
00:47:29,380 --> 00:47:31,916
SALIVA KIT SENT.

1396
00:47:31,916 --> 00:47:33,217
REGARD LES OF YOU HO YOU COME

1397
00:47:33,217 --> 00:47:34,952
IN, WE COLLECT THE SAME BASIC

1398
00:47:34,952 --> 00:47:36,854
KINDS OF INFORMATION.

1399
00:47:36,854 --> 00:47:38,089
ELECTRONIC HEALTH RECORDS ARE A

1400
00:47:38,089 --> 00:47:40,458
KEY PART OF HOW WE COLLECT DATA

1401
00:47:40,458 --> 00:47:41,792
AROUND DISEASE AND DEEDS

1402
00:47:41,792 --> 00:47:42,760
RESPONSE.

1403
00:47:42,760 --> 00:47:44,428
GETTING PARTICIPANT SURVEYS, WE

1404
00:47:44,428 --> 00:47:45,863
DON'T WANT TO JUST USE

1405
00:47:45,863 --> 00:47:47,031
ELECTRONIC HEALTH RECORD, WE

1406
00:47:47,031 --> 00:47:48,733
WANT TO USE SURVEYS TO AUGMENT

1407
00:47:48,733 --> 00:47:49,600
AND ASK DIFFERENT KINDS OF

1408
00:47:49,600 --> 00:47:50,501
QUESTIONS THAT WE CAN LEARN

1409
00:47:50,501 --> 00:47:51,235
ABOUT.

1410
00:47:51,235 --> 00:47:53,004
PHYSICAL MEASURES, BIOSAMPLES

1411
00:47:53,004 --> 00:47:58,276
ARE KEY, AND THEN WEARABLE DATA,

1412
00:47:58,276 --> 00:48:00,044
WE GIVE THOSE DEVICES OUT TO

1413
00:48:00,044 --> 00:48:01,379
SELECT POPULATIONS AND WELL AND

1414
00:48:01,379 --> 00:48:02,280
WE'RE ALWAYS LOOKING TO EXPAND

1415
00:48:02,280 --> 00:48:02,713
THAT.

1416
00:48:02,713 --> 00:48:04,549
THIS PROGRAM IS YOUNG.

1417
00:48:04,549 --> 00:48:09,420
WE JUST CELEBRATED OUR FIFTH

1418
00:48:09,420 --> 00:48:11,255
YEAR -- WE'RE ABOUT 5 1/2 YEARS

1419
00:48:11,255 --> 00:48:12,690
IN AT THIS POINT.

1420
00:48:12,690 --> 00:48:14,225
THE OTHER PART IS PARTNERSHIP WE

1421
00:48:14,225 --> 00:48:16,227
KNEW IS REALLY IMPORTANT AND OUR

1422
00:48:16,227 --> 00:48:17,195
PARTICIPANTS TOLD US, THEY

1423
00:48:17,195 --> 00:48:18,162
WANTED INFORMATION BACK.

1424
00:48:18,162 --> 00:48:19,597
AND WE THOUGHT THAT WAS AN

1425
00:48:19,597 --> 00:48:20,831
IMPORTANT WAY TO IMPROVE

1426
00:48:20,831 --> 00:48:21,933
HEALTHCARE AS WELL.

1427
00:48:21,933 --> 00:48:23,367
SO WE ASKED PEOPLE WHAT THEY

1428
00:48:23,367 --> 00:48:25,336
WANTED TO KNOW AND GENETIC

1429
00:48:25,336 --> 00:48:26,237
INFORMATION WAS AMONG THE TOP OF

1430
00:48:26,237 --> 00:48:27,438
THE KIND OF THINGS PEOPLE WOULD

1431
00:48:27,438 --> 00:48:28,105
WANT BACK.

1432
00:48:28,105 --> 00:48:29,307
THEY ALSO WANTED TO KNOW THINGS

1433
00:48:29,307 --> 00:48:30,875
ABOUT THEIR SURVEY DATA,

1434
00:48:30,875 --> 00:48:32,176
ELECTRONIC HEALTH RECORD DATA.

1435
00:48:32,176 --> 00:48:33,511
IF THEY COULD BE ELIGIBLE FOR

1436
00:48:33,511 --> 00:48:34,812
OTHER KINDS OF STUDIES AND HOW

1437
00:48:34,812 --> 00:48:36,814
WE CAN MAKE THOSE LINKAGES, AND

1438
00:48:36,814 --> 00:48:39,650
WHAT THEY WERE FINDING, AND THE

1439
00:48:39,650 --> 00:48:41,319
KIND OF RESULTS WE'RE FINDING,

1440
00:48:41,319 --> 00:48:43,321
HOW WE CAN RETURN THOSE IS A KEY

1441
00:48:43,321 --> 00:48:44,188
PART.

1442
00:48:44,188 --> 00:48:45,756
A KEY ASPECT OF THIS, VERY

1443
00:48:45,756 --> 00:48:46,958
RELEVANT TO THE STORY WE'RE

1444
00:48:46,958 --> 00:48:48,859
TALKING ABOUT TODAY AND LES'

1445
00:48:48,859 --> 00:48:50,161
PROJECT EVEN AS HE DESCRIBED

1446
00:48:50,161 --> 00:48:53,764
THESE OTHER COHORTS AND OTHER

1447
00:48:53,764 --> 00:48:55,132
INDIVIDUALS, IS PARTICIPANTS CAN

1448
00:48:55,132 --> 00:48:56,567
BE RE-CONTACTED FOR OTHER

1449
00:48:56,567 --> 00:48:59,503
RESEARCH OPPORTUNITIES.

1450
00:48:59,503 --> 00:49:00,938
SO TALKING ABOUT RETURNING

1451
00:49:00,938 --> 00:49:02,406
GENETIC RESULTS, WHAT WE STARTED

1452
00:49:02,406 --> 00:49:04,875
FIRST WITH, PARTIALLY BECAUSE IT

1453
00:49:04,875 --> 00:49:06,410
WAS EASIER WITH GENETIC ANCESTRY

1454
00:49:06,410 --> 00:49:07,979
AND NON-HEALTH-RELATED TRAITS,

1455
00:49:07,979 --> 00:49:10,314
AND THIS WOULD BE LIKE OTHER

1456
00:49:10,314 --> 00:49:11,082
COMMERCIAL COMPANIES THAT

1457
00:49:11,082 --> 00:49:12,516
PROVIDE THIS KIND OF RESOURCE.

1458
00:49:12,516 --> 00:49:14,952
IT'S AN ENGAGEMENT ORIENTED

1459
00:49:14,952 --> 00:49:16,854
EXERCISE, WHETHER OR NOT YOU CAN

1460
00:49:16,854 --> 00:49:17,922
TASTE CILANTRO, WHAT KIND OF EAR

1461
00:49:17,922 --> 00:49:20,358
WAX YOU HAVE, WHAT YOUR GENETIC

1462
00:49:20,358 --> 00:49:21,692
ANCESTRY IS, THOSE KINDS OF

1463
00:49:21,692 --> 00:49:22,360
THINGS.

1464
00:49:22,360 --> 00:49:24,862
AND WE'VE OFFERED THAT TO

1465
00:49:24,862 --> 00:49:27,531
244,000 PEOPLE AT THIS POINT,

1466
00:49:27,531 --> 00:49:29,600
OVER 170,000 HAVE VIEWED THOSE

1467
00:49:29,600 --> 00:49:30,468
KIND OF RESULTS.

1468
00:49:30,468 --> 00:49:31,736
ABOUT A YEAR AGO, WE STARTED

1469
00:49:31,736 --> 00:49:34,338
OFFERING HEALTH-RELATED GENETIC

1470
00:49:34,338 --> 00:49:35,873
RESULTS, WORGING WITH THE FDA IN

1471
00:49:35,873 --> 00:49:37,575
THIS PROCESS TO RETURN THIS TO

1472
00:49:37,575 --> 00:49:39,777
OUR PARTICIPANTS SUPPORTED BY

1473
00:49:39,777 --> 00:49:41,078
GENETIC COUNSELORS AS WELL.

1474
00:49:41,078 --> 00:49:43,614
THE FIRST OF THESE IS HEREDITARY

1475
00:49:43,614 --> 00:49:44,148
DISEASE RISK.

1476
00:49:44,148 --> 00:49:45,816
WE HAVE 59 GENES THAT HAVE

1477
00:49:45,816 --> 00:49:46,450
DISEASES ASSOCIATED WITH THEM

1478
00:49:46,450 --> 00:49:47,618
THAT ARE ACTIONABLE.

1479
00:49:47,618 --> 00:49:49,320
WE KNOW THE VAST MAJORITY OF

1480
00:49:49,320 --> 00:49:49,954
PEOPLE WON'T KNOW THEY HAVE UP

1481
00:49:49,954 --> 00:49:52,290
WITH OF THESE CONDITIONS IF WE

1482
00:49:52,290 --> 00:49:53,124
FIND A GENETIC VARIANT.

1483
00:49:53,124 --> 00:49:54,558
SO THAT'S AN OPPORTUNITY FOR

1484
00:49:54,558 --> 00:49:55,760
THEM TO LEARN ABOUT SOMETHING

1485
00:49:55,760 --> 00:49:58,496
NEW THAT COULD PREVENT

1486
00:49:58,496 --> 00:49:59,964
PREEMTIVELY AS LES WAS TALKING

1487
00:49:59,964 --> 00:50:02,233
ABOUT A CONDITION DEVELOPING.

1488
00:50:02,233 --> 00:50:04,869
SUCH AS BREAST AND OVARIAN

1489
00:50:04,869 --> 00:50:07,538
CANCER SYNDROMES, SUCH AS

1490
00:50:07,538 --> 00:50:09,707
CARDIAC ARRHYTHMIA, THEY CAN BE

1491
00:50:09,707 --> 00:50:11,142
FAY TELL.

1492
00:50:11,142 --> 00:50:13,010
SUPPORTING THEM IN THAT PROCESS,

1493
00:50:13,010 --> 00:50:14,679
AND THEN PHARMACOJI KNOW MIX OR

1494
00:50:14,679 --> 00:50:17,548
WHAT WE CALL MEDICINE IN DNA,

1495
00:50:17,548 --> 00:50:20,151
HOW MEDICINE AFFECTS HOW A DRUG

1496
00:50:20,151 --> 00:50:22,920
IS GOING TO WORK FOR YOU.

1497
00:50:22,920 --> 00:50:28,959
ACTUALLY -- I CARRY TWO THAT

1498
00:50:28,959 --> 00:50:30,461
WOULD CHANGE MEDICATIONS THAT I

1499
00:50:30,461 --> 00:50:31,696
WOULD BE PRESCRIBED, AND SOME OF

1500
00:50:31,696 --> 00:50:34,565
THESE ARE VERY COMMON IN THIS

1501
00:50:34,565 --> 00:50:36,734
PROCESS AND, IN FACT, I LEARNED

1502
00:50:36,734 --> 00:50:37,935
THAT FROM ALL-OF-US.

1503
00:50:37,935 --> 00:50:40,271
AND WE'VE OFFERED THIS TO ABOUT

1504
00:50:40,271 --> 00:50:42,707
212,000 PEOPLE, 108,000 HAVE

1505
00:50:42,707 --> 00:50:44,342
SAID THEY WANT THOSE RESULTS

1506
00:50:44,342 --> 00:50:47,011
WHEN THEY SAY YES, WE GO

1507
00:50:47,011 --> 00:50:48,546
GENERATE THE RESULT.

1508
00:50:48,546 --> 00:50:50,614
SO 87,000 OF THOSE HAVE ACTUALLY

1509
00:50:50,614 --> 00:50:52,483
HAD THEIR RESULT GENERATED AND

1510
00:50:52,483 --> 00:50:54,852
VIEWED THOSE RESULTS.

1511
00:50:54,852 --> 00:50:57,588
SO WE'VE ALSO CREATED, OF

1512
00:50:57,588 --> 00:50:58,789
COURSE, THIS RESOURCE TO DO

1513
00:50:58,789 --> 00:50:59,990
RESEARCH AND MADE IT AVAILABLE

1514
00:50:59,990 --> 00:51:03,227
TO RESEARCHERS IN A CLOUD-BASED

1515
00:51:03,227 --> 00:51:04,528
COMPUTABLE ENVIRONMENT WHERE

1516
00:51:04,528 --> 00:51:05,830
RESEARCHERS COME TO US TO USE

1517
00:51:05,830 --> 00:51:07,965
THE DATA IN OUR PROTECTED

1518
00:51:07,965 --> 00:51:09,367
ENCLAVE, GO THROUGH AN ACCESS

1519
00:51:09,367 --> 00:51:10,501
PROCESS.

1520
00:51:10,501 --> 00:51:12,436
WE PROTECT DE-IDENTIFIED THE

1521
00:51:12,436 --> 00:51:14,004
DATA AND MAKE IT AVAILABLE TO

1522
00:51:14,004 --> 00:51:14,638
RESEARCHERS.

1523
00:51:14,638 --> 00:51:17,174
AND WE RELEASE THOSE DATASETS,

1524
00:51:17,174 --> 00:51:17,942
ABOUT ONE A YEAR.

1525
00:51:17,942 --> 00:51:20,077
THESE ARE THE CURRENTLY

1526
00:51:20,077 --> 00:51:26,217
AVAILABLE DATASETS, 245,000

1527
00:51:26,217 --> 00:51:27,084
GENOMES AVAILABLE FOR RESEARCH

1528
00:51:27,084 --> 00:51:28,119
ACROSS OUR POPULATION.

1529
00:51:28,119 --> 00:51:29,220
LARGELY BECAUSE OF THE DIVERSITY

1530
00:51:29,220 --> 00:51:30,721
OF OUR POPULATION, AND I'LL SHOW

1531
00:51:30,721 --> 00:51:34,291
THIS IN THE NEXT SLIDE, OF THE

1532
00:51:34,291 --> 00:51:35,926
3 BILLION BASE PAIRS IN THE

1533
00:51:35,926 --> 00:51:37,995
GENOME, WE HAVE OBSERVED

1534
00:51:37,995 --> 00:51:39,196
VARIATION AT A BILLION

1535
00:51:39,196 --> 00:51:41,866
LOCATIONS, AND OF THOSE --

1536
00:51:41,866 --> 00:51:43,834
NEARLY A THIRD OF THE GENOME,

1537
00:51:43,834 --> 00:51:46,137
THAT'S A THOUSAND FOLD MORE

1538
00:51:46,137 --> 00:51:50,174
INFORMATION TH THAN SOME OF THEE

1539
00:51:50,174 --> 00:51:51,175
COMMERCIAL PROVIDERS TESTING

1540
00:51:51,175 --> 00:51:52,743
YOUR DNA, WE'VE ACTUALLY

1541
00:51:52,743 --> 00:51:59,417
OBSERVED VARIATION ON.

1542
00:51:59,417 --> 00:52:00,418
REAL OPPORTUNITIES TO THINK

1543
00:52:00,418 --> 00:52:02,153
ABOUT WHAT THIS VARIATION MEANS.

1544
00:52:02,153 --> 00:52:04,054
THOSE VARIANTS ARE LARGELY

1545
00:52:04,054 --> 00:52:07,224
UNKNOWN IN THE LITERATURE, AND

1546
00:52:07,224 --> 00:52:10,294
WHAT IMPACT THEY COULD HAVE.

1547
00:52:10,294 --> 00:52:11,929
SO I SHOWED THIS FIGURE BEFORE

1548
00:52:11,929 --> 00:52:13,330
IN THE GREY BARS OF WHAT'S

1549
00:52:13,330 --> 00:52:14,732
CURRENTLY OUT THERE IN TERMS OF

1550
00:52:14,732 --> 00:52:16,100
GENOMIC RESEARCH, AND NOW YOU

1551
00:52:16,100 --> 00:52:18,068
SEE COMPARED TO THE BLUE BARS,

1552
00:52:18,068 --> 00:52:20,137
WHICH ARE WHAT THE MAKE YUM OF

1553
00:52:20,137 --> 00:52:23,040
ALL-OF-US IS.

1554
00:52:23,040 --> 00:52:23,374
UP OF

1555
00:52:23,374 --> 00:52:24,341
ALL-OF-US IS.

1556
00:52:24,341 --> 00:52:26,510
SO WE'VE BEEN WORKING WITH

1557
00:52:26,510 --> 00:52:27,545
ENGAGEMENT PARTNERS ACROSS THE

1558
00:52:27,545 --> 00:52:28,746
COUNTRY, WORKING WITH HEALTHCARE

1559
00:52:28,746 --> 00:52:29,647
PROVIDER ORGANIZATIONS AND

1560
00:52:29,647 --> 00:52:30,848
REALLY TRYING TO SEEK TO

1561
00:52:30,848 --> 00:52:32,416
ESTABLISH TRUST FIRST, AND

1562
00:52:32,416 --> 00:52:34,952
MOVING SCIENCE AT THAT SPEED, AS

1563
00:52:34,952 --> 00:52:37,555
WE GO FORWARD TO BUILD WITH OUR

1564
00:52:37,555 --> 00:52:39,523
COMMUNITIES AND OVER FROM 5% OF

1565
00:52:39,523 --> 00:52:42,092
OUR POPULATION IS DIVERSE BY

1566
00:52:42,092 --> 00:52:44,595
RACE AND ETHNICITY, OVER 77% BY

1567
00:52:44,595 --> 00:52:47,164
A LARGER METRIC OF

1568
00:52:47,164 --> 00:52:48,265
UNDERREPRESENTATION IN

1569
00:52:48,265 --> 00:52:49,633
BIOMEDICAL RESEARCH, PEOPLE WHO

1570
00:52:49,633 --> 00:52:51,769
LIVE IN RURAL LOCATIONS,

1571
00:52:51,769 --> 00:52:53,571
DISABILITY STATUS, EDUCATIONAL

1572
00:52:53,571 --> 00:52:54,672
ATTAINMENT AND OTHER METRICS

1573
00:52:54,672 --> 00:52:58,042
LIKE THAT.

1574
00:52:58,042 --> 00:53:01,278
SO COMING BACK TO THE EXAMPLE OF

1575
00:53:01,278 --> 00:53:02,680
PHEWAS AND COMING BACK TO THE

1576
00:53:02,680 --> 00:53:04,448
VARIANT LES JUST TALKED ABOUT IN

1577
00:53:04,448 --> 00:53:07,485
A NUMBER OF DIFFERENT

1578
00:53:07,485 --> 00:53:09,787
CONDITIONS, THIS AS HE DISCUSSED

1579
00:53:09,787 --> 00:53:11,722
IS LARGELY PRESENT IN AFRICAN

1580
00:53:11,722 --> 00:53:13,357
ANCESTRY POPULATIONS, SO IF YOU

1581
00:53:13,357 --> 00:53:16,694
HAD THE EUROPEAN POPULATION JUST

1582
00:53:16,694 --> 00:53:18,562
IN YOUR COHORT LIKE IN MOST

1583
00:53:18,562 --> 00:53:19,530
COHORTS IN THE WORLD, YOU MAY

1584
00:53:19,530 --> 00:53:20,764
NOT SEE THE IMPACT OF THIS

1585
00:53:20,764 --> 00:53:20,998
VARIANT.

1586
00:53:20,998 --> 00:53:23,434
IN OUR DATASET, WE HAVE ABOUT

1587
00:53:23,434 --> 00:53:24,735
1400 INDIVIDUALS WHO CARRY THIS

1588
00:53:24,735 --> 00:53:26,437
VARIANT, AND YOU CAN SEE THE

1589
00:53:26,437 --> 00:53:27,404
ASSOCIATION RESULTS HERE.

1590
00:53:27,404 --> 00:53:33,777
YOU CAN SEE CARPAL TUNNEL, THAT

1591
00:53:33,777 --> 00:53:35,946
UPPER LIMB IS A KIND OF

1592
00:53:35,946 --> 00:53:37,548
NEUROPATHY, MONO NEUROPATHIES,

1593
00:53:37,548 --> 00:53:39,950
SOME OCULAR PHENOTYPES, AND ON

1594
00:53:39,950 --> 00:53:44,822
THE LEFT, AMELODOISIS.  THIS IS

1595
00:53:44,822 --> 00:53:46,991
EARLY RESULTS DONE BY A

1596
00:53:46,991 --> 00:53:49,827
POSTBACCALAUREATE STUDENT IN OUR

1597
00:53:49,827 --> 00:53:51,195
LAB, AND IF YOU LOOK AT THESE

1598
00:53:51,195 --> 00:53:52,096
RESULTS, WE DON'T KNOW HOW MANY

1599
00:53:52,096 --> 00:53:53,297
OF THESE PARTICIPANTS ACTUALLY

1600
00:53:53,297 --> 00:53:54,431
KNOW IF THEY HAVE THE CONDITION

1601
00:53:54,431 --> 00:53:55,633
OR NOT.

1602
00:53:55,633 --> 00:53:57,935
THIS WAS SOMETHING THAT WE CAN

1603
00:53:57,935 --> 00:54:00,004
GO FURTHER DOWN IN THE ANALYSIS

1604
00:54:00,004 --> 00:54:02,406
AS WE THINK ABOUT THESE

1605
00:54:02,406 --> 00:54:08,646
CONDITIONS.

1606
00:54:08,646 --> 00:54:09,980
THERE'S A CLUSTER OF PHENOTYPES

1607
00:54:09,980 --> 00:54:11,215
THAT CAN BE ASSOCIATED WITH A

1608
00:54:11,215 --> 00:54:11,882
GIVEN GENETIC CONDITION.

1609
00:54:11,882 --> 00:54:13,584
IT CAN ALSO BE ANY SYNDROME.

1610
00:54:13,584 --> 00:54:15,019
WE THINK ABOUT HEART FAILURE,

1611
00:54:15,019 --> 00:54:16,520
SHORTNESS OF BREATH, SWELLING,

1612
00:54:16,520 --> 00:54:17,555
FATIGUE, ALL THESE THINGS THAT

1613
00:54:17,555 --> 00:54:18,889
ARE ASSOCIATED WITH THAT.

1614
00:54:18,889 --> 00:54:21,725
BUT ESPECIALLY WITH GENETICS AND

1615
00:54:21,725 --> 00:54:23,127
RARE DISEASE, DOCTORS AREN'T

1616
00:54:23,127 --> 00:54:24,728
NECESSARILY AS GOOD AT THINKING

1617
00:54:24,728 --> 00:54:26,997
ABOUT THIS.

1618
00:54:26,997 --> 00:54:28,866
LET'S THINK ABOUT THE EXAMPLE OF

1619
00:54:28,866 --> 00:54:30,067
CYSTIC FIBROSIS.

1620
00:54:30,067 --> 00:54:31,368
COUGH IS A COMMON CONDITION

1621
00:54:31,368 --> 00:54:33,504
ASSOCIATED WITH RECESSIVE

1622
00:54:33,504 --> 00:54:35,706
GENETIC DISEASE.

1623
00:54:35,706 --> 00:54:37,608
ONLY .3% OF PEOPLE WITH COUGH IN

1624
00:54:37,608 --> 00:54:39,310
THE ELECTRONIC HEALTH RECORD

1625
00:54:39,310 --> 00:54:42,212
WILL HAVE CYSTIC FIBROSIS.

1626
00:54:42,212 --> 00:54:43,948
MOST PEOPLE WHO HAVE SINUSITIS

1627
00:54:43,948 --> 00:54:46,250
DO NOT HAVE CYSTIC FIBROSIS.

1628
00:54:46,250 --> 00:54:46,750
1% WILL.

1629
00:54:46,750 --> 00:54:48,385
IF YOU LOOK AT BACTERIAL

1630
00:54:48,385 --> 00:54:49,253
PNEUMONIA, MOST PEOPLE WITH

1631
00:54:49,253 --> 00:54:51,855
PNEUMONIA WILL NOT HAVE CF.

1632
00:54:51,855 --> 00:54:52,423
4% HAVE CF.

1633
00:54:52,423 --> 00:55:01,131
IF YOU LOOK AT BRONCHIECTASIS,

1634
00:55:01,131 --> 00:55:02,933
STILL ONLY 9% OF THOSE PATIENTS.

1635
00:55:02,933 --> 00:55:04,468
BUT IF YOU PUT THESE FOUR

1636
00:55:04,468 --> 00:55:06,337
CONDITIONS TOGETHER, 50% OF

1637
00:55:06,337 --> 00:55:09,273
THOSE PATIENTS WILL HAVE CF.

1638
00:55:09,273 --> 00:55:10,874
SO CAN WE USE THIS KIND OF

1639
00:55:10,874 --> 00:55:13,277
PROCESS OF CLUSTERING AND USING

1640
00:55:13,277 --> 00:55:14,478
DIFFERENT WEIGHTING TECHNIQUES

1641
00:55:14,478 --> 00:55:16,614
TO FIND A DPIRCH CONDITION, AND

1642
00:55:16,614 --> 00:55:18,349
SO HERE'S AN EXAMPLE FROM THE

1643
00:55:18,349 --> 00:55:19,783
LITERATURE OF SOMEONE WHO'S

1644
00:55:19,783 --> 00:55:22,519
PRESENTING MORE ATYPICALLY.

1645
00:55:22,519 --> 00:55:26,523
A 47-YEAR-OLD THAT HAD -- THIS

1646
00:55:26,523 --> 00:55:27,925
IS A PATIENT WITH CYSTIC

1647
00:55:27,925 --> 00:55:28,359
FIBROSIS.

1648
00:55:28,359 --> 00:55:29,360
MOST PEOPLE THINK OF THIS

1649
00:55:29,360 --> 00:55:30,628
PRESENTING EARLIER IN LIFE.

1650
00:55:30,628 --> 00:55:32,696
IT'S ACTUALLY A DISEASE IN MY

1651
00:55:32,696 --> 00:55:37,534
FAMILY HISTORY, AND THE PEOP

1652
00:55:37,534 --> 00:55:39,470
PEOPLE -- WOULD BE AUNTS AND

1653
00:55:39,470 --> 00:55:42,172
UNCLE WOULD ALL MANIFEST VERY

1654
00:55:42,172 --> 00:55:42,606
YOUNG.

1655
00:55:42,606 --> 00:55:44,241
BUT PEOPLE DO MANIFEST OLDER,

1656
00:55:44,241 --> 00:55:45,342
AND THOSE CAN BE MISSED, THOSE

1657
00:55:45,342 --> 00:55:48,012
CAN BE THE DIAGNOSTIC ODYSSEYS

1658
00:55:48,012 --> 00:55:48,646
ESPECIALLY.

1659
00:55:48,646 --> 00:55:50,614
THIS INDIVIDUAL WAS IN THE TOP

1660
00:55:50,614 --> 00:55:53,250
2% OF INDIVIDUALS WITH HER SCORE

1661
00:55:53,250 --> 00:55:54,652
IN THE DATABASE.

1662
00:55:54,652 --> 00:55:57,488
AND SO MAYBE THERE'S AN

1663
00:55:57,488 --> 00:55:58,455
AUGMENTED WAY TO KIND OF DO

1664
00:55:58,455 --> 00:55:58,822
THIS.

1665
00:55:58,822 --> 00:56:00,824
WE LOOKED AT ALL THE PATIENTS WE

1666
00:56:00,824 --> 00:56:03,794
HAD DIAGNOSED, AND THEIR AGE OF

1667
00:56:03,794 --> 00:56:05,863
DIAGNOSIS OF CYSTIC FIBROSIS.

1668
00:56:05,863 --> 00:56:07,531
MOST PATIENTS WERE DIAGNOSED

1669
00:56:07,531 --> 00:56:08,732
YOUNG, BUT IF YOU LOOK OVER

1670
00:56:08,732 --> 00:56:11,268
TIME, THERE'S ACTUALLY AN

1671
00:56:11,268 --> 00:56:12,136
80-YEAR-OLD INDIVIDUAL WHO WAS

1672
00:56:12,136 --> 00:56:15,105
DIAGNOSED WITH CF IN THAT, AND

1673
00:56:15,105 --> 00:56:16,907
SHE ACTUALLY HAD SYMPTOMS FOR

1674
00:56:16,907 --> 00:56:17,975
ABOUT 20 YEARS GOING BACK THAT

1675
00:56:17,975 --> 00:56:21,178
YOU COULD LOOK AT.

1676
00:56:21,178 --> 00:56:22,379
DOCTORS WERE CONFUSED AS TO WHY

1677
00:56:22,379 --> 00:56:23,647
THIS HAPPENED.

1678
00:56:23,647 --> 00:56:25,516
OBVIOUSLY A VERY ATYPICAL AND

1679
00:56:25,516 --> 00:56:27,151
MUCH MILDER, FORTUNATELY FOR

1680
00:56:27,151 --> 00:56:29,053
HER, CASE OF CF, BUT STILL HER

1681
00:56:29,053 --> 00:56:30,020
GENETICS SHOWED THAT SHE HAD

1682
00:56:30,020 --> 00:56:30,688
THOSE CONDITIONS.

1683
00:56:30,688 --> 00:56:31,722
AND HOW DO WE FIND THOSE

1684
00:56:31,722 --> 00:56:32,189
CONDITIONS?

1685
00:56:32,189 --> 00:56:33,490
HOW DO WE HELP DOCTORS THINK

1686
00:56:33,490 --> 00:56:35,459
THROUGH THAT AND GET THE RIGHT

1687
00:56:35,459 --> 00:56:35,793
INTERVENTION?

1688
00:56:35,793 --> 00:56:36,727
THOSE ARE SOME OF THE THINGS

1689
00:56:36,727 --> 00:56:40,564
WE'D LIKE TO THINK ABOUT.

1690
00:56:40,564 --> 00:56:42,066
THIS IS JUST LOOKING AT THIS A

1691
00:56:42,066 --> 00:56:43,367
DIFFERENT WAY, AND HIGHLIGHTED

1692
00:56:43,367 --> 00:56:44,435
TWO PEOPLE WHEN THEIR GRAPH

1693
00:56:44,435 --> 00:56:45,636
CHANGES FROM THAT PINK COLOR TO

1694
00:56:45,636 --> 00:56:47,404
THE BLUE COLOR, WHEN THEY MADE

1695
00:56:47,404 --> 00:56:48,706
THE -- DOCTORS MADE A DIAGNOSIS

1696
00:56:48,706 --> 00:56:49,406
OF CF.

1697
00:56:49,406 --> 00:56:53,677
AND THE SCALE ON THE LEFT THERE

1698
00:56:53,677 --> 00:56:55,979
IS BASED ON STANDARD DEVIATIONS

1699
00:56:55,979 --> 00:56:57,514
OF SCORE, WHICH MEANS THAT WHEN

1700
00:56:57,514 --> 00:57:00,217
YOU'RE AT THE 5, 7, 10, YOU'RE

1701
00:57:00,217 --> 00:57:01,518
INCREDIBLY OFF THE CHART RARE IN

1702
00:57:01,518 --> 00:57:03,053
TERMS OF THE POPULATION OF

1703
00:57:03,053 --> 00:57:04,521
HAVING THAT CLUSTER OF SYMPTOMS

1704
00:57:04,521 --> 00:57:05,522
AT THAT AGE.

1705
00:57:05,522 --> 00:57:08,025
SO MAYBE THERE ARE WAYS WE CAN

1706
00:57:08,025 --> 00:57:09,460
ELECTRONICALLY HELP IN THAT

1707
00:57:09,460 --> 00:57:10,060
PROCESS.

1708
00:57:10,060 --> 00:57:12,896
EVEN IF WE DIDN'T HAVE THE

1709
00:57:12,896 --> 00:57:15,532
GENOME FIRST COMBINED WITH THE

1710
00:57:15,532 --> 00:57:16,166
PHENOME FIRST APPROACH.

1711
00:57:16,166 --> 00:57:17,434
I THINK THAT'S WHERE WE'RE

1712
00:57:17,434 --> 00:57:19,403
LEADED IS BOTH GENETICS AND

1713
00:57:19,403 --> 00:57:20,070
PHENOMES AT THE SAME TIME TO

1714
00:57:20,070 --> 00:57:23,574
HELP THEME GET CARE FASTER.

1715
00:57:23,574 --> 00:57:26,677
SO THIS IS ALSO WORK THAT CASIA

1716
00:57:26,677 --> 00:57:27,111
HAS DONE.

1717
00:57:27,111 --> 00:57:28,545
I WANT TO HIGHLIGHT A DIFFERENT

1718
00:57:28,545 --> 00:57:29,379
PART OF THE STORY WITH THIS.

1719
00:57:29,379 --> 00:57:31,682
THIS IS DOING THAT SAME

1720
00:57:31,682 --> 00:57:33,050
PHENOTYPE RISK SCORE APPROACH

1721
00:57:33,050 --> 00:57:39,723
FOR THE HEREDITARY AMYLOIDOSIS.

1722
00:57:39,723 --> 00:57:41,058
IN THIS CASE, WHAT SHE HAS DONE

1723
00:57:41,058 --> 00:57:42,559
IS SHE'S BROKEN IT DOWN BY

1724
00:57:42,559 --> 00:57:43,994
PEOPLE WHO HAVE DIABETES AND

1725
00:57:43,994 --> 00:57:47,131
PEOPLE WHO DON'T, AND THE ORANGE

1726
00:57:47,131 --> 00:57:48,766
COLORS ARE PEOPLE WHO HAVE THE

1727
00:57:48,766 --> 00:57:51,168
GENETIC VARIANT, THE BLUE PREP

1728
00:57:51,168 --> 00:57:53,203
CENTS -- SORRY, THE ORANGE COLOR

1729
00:57:53,203 --> 00:57:56,173
REPRESENTS DIABETES OR NOT, AND

1730
00:57:56,173 --> 00:57:58,008
ACROSS THE BOTTOM, HAVING THE

1731
00:57:58,008 --> 00:58:00,043
GENETIC VARIANT OR NOT.

1732
00:58:00,043 --> 00:58:02,012
SO DIABETES CAUSES FEWERROPATHY.

1733
00:58:02,012 --> 00:58:03,347
IT CAUSES KIDNEY DISEASE.

1734
00:58:03,347 --> 00:58:06,016
IT CAUSES EYE DISEASE.

1735
00:58:06,016 --> 00:58:07,451
SOME OF THE SAME THINGS YOU SEE

1736
00:58:07,451 --> 00:58:08,218
IN PEOPLE THAT HAVE THIS

1737
00:58:08,218 --> 00:58:11,388
CONDITION.

1738
00:58:11,388 --> 00:58:14,358
SO WHAT WE'RE THINKING IS,

1739
00:58:14,358 --> 00:58:15,826
PATIENTS WITH DIABETES, ARE THEY

1740
00:58:15,826 --> 00:58:18,695
THINKING OF THE POSSIBLE ALSO

1741
00:58:18,695 --> 00:58:20,197
PRESENT CONDITION OF HAVING

1742
00:58:20,197 --> 00:58:21,398
AMYLOID THAT COULD BE MAKING

1743
00:58:21,398 --> 00:58:23,934
THIS WORSE?

1744
00:58:23,934 --> 00:58:25,068
AND WILL PEOPLE THINK OF IT THE

1745
00:58:25,068 --> 00:58:25,536
SAME WAY?

1746
00:58:25,536 --> 00:58:26,970
AND IT REALLY HIGHLIGHTS THE

1747
00:58:26,970 --> 00:58:29,573
IMPORTANCE, I THINK, OF THINKING

1748
00:58:29,573 --> 00:58:31,041
ABOUT IN BOTH A GENOME AND

1749
00:58:31,041 --> 00:58:32,342
PHENOME APPROACH, AND THAT

1750
00:58:32,342 --> 00:58:34,011
PHYSICIANS THAT ARE SEEING LOTS

1751
00:58:34,011 --> 00:58:37,447
OF PATIENTS NEED SUPPORT IN AN

1752
00:58:37,447 --> 00:58:38,348
INFORMATICS APPROACH AND HOW

1753
00:58:38,348 --> 00:58:39,550
THEY CAN DO THIS KIND OF WORK

1754
00:58:39,550 --> 00:58:40,617
AND BETTER TAKE CARE OF

1755
00:58:40,617 --> 00:58:42,219
PATIENTS.

1756
00:58:42,219 --> 00:58:43,854
WHERE ARE WE HEADED WITH

1757
00:58:43,854 --> 00:58:44,521
ALL-OF-US?

1758
00:58:44,521 --> 00:58:48,792
WE'RE VERY EXCITED TO BE --

1759
00:58:48,792 --> 00:58:49,526
WE'RE LOOKING FORWARD TO

1760
00:58:49,526 --> 00:58:50,527
LAUNCHING IN KIDS AS WELL.

1761
00:58:50,527 --> 00:58:52,029
I TALKED ABOUT ALL THE GENOMES

1762
00:58:52,029 --> 00:58:58,802
WE HAVE OUT THERE NOW.

1763
00:58:58,802 --> 00:59:01,171
WE ARE RETURNING 59 GENES NOW TO

1764
00:59:01,171 --> 00:59:02,940
PATIENTS IF THEY WANT THOSE

1765
00:59:02,940 --> 00:59:04,107
BACK, WE'RE GOING TO EXPAND

1766
00:59:04,107 --> 00:59:07,044
THAT, TAKE NEW INFORMATION, WORK

1767
00:59:07,044 --> 00:59:11,515
WITH THE FDA IN HOW WE RETURN

1768
00:59:11,515 --> 00:59:14,351
THOSE RESULTS TO PARTICIPANTS,

1769
00:59:14,351 --> 00:59:16,520
BUT THESE ARE WAYS I THINK WE

1770
00:59:16,520 --> 00:59:17,855
CAN TANGIBLY IMPROVE PEOPLE'S

1771
00:59:17,855 --> 00:59:20,557
LIVES AND HOPEFULLY ADVANCE

1772
00:59:20,557 --> 00:59:22,860
PRECISION MEDICINE WRIT LARGE AS

1773
00:59:22,860 --> 00:59:24,428
THESE PEOPLE TAKE TO PROVIDES

1774
00:59:24,428 --> 00:59:25,863
ACROSS THE COUNTRY.

1775
00:59:25,863 --> 00:59:29,166
WE HAVE DIGITAL HEALTH DEVICES

1776
00:59:29,166 --> 00:59:30,467
MEANING LIKE APPLE WATCHES,

1777
00:59:30,467 --> 00:59:31,501
THINGS LIKE THAT.

1778
00:59:31,501 --> 00:59:32,169
EXPANDING THAT.

1779
00:59:32,169 --> 00:59:38,575
WE ALWAYS CAN THINK W THINKING W

1780
00:59:38,575 --> 00:59:39,209
DATA.

1781
00:59:39,209 --> 00:59:42,145
PARTICIPANTS CAN BE RECOCONTACTD

1782
00:59:42,145 --> 00:59:44,514
AND WE CAN ASK THEM DO THEY WANT

1783
00:59:44,514 --> 00:59:46,416
TO BE PART OF OTHER CLINICAL

1784
00:59:46,416 --> 00:59:48,518
TRIALS, LEARNING ABOUT

1785
00:59:48,518 --> 00:59:49,319
INFLUENCES OF THE ENVIRONMENT,

1786
00:59:49,319 --> 00:59:51,622
TO THINK ABOUT HOW WE BUILD THE

1787
00:59:51,622 --> 00:59:52,723
RESOURCE AS A PLATFORM TO

1788
00:59:52,723 --> 00:59:54,358
CONTINUE TO GET RICHER AND HAVE

1789
00:59:54,358 --> 00:59:58,362
MORE OF AN IMPACT ON SOCIETY'S

1790
00:59:58,362 --> 01:00:01,198
UNDERSTANDING OF HEALTH ACROSS

1791
01:00:01,198 --> 01:00:02,799
POPULATIONS, EVERY ONE OVER

1792
01:00:02,799 --> 01:00:03,000
TIME.

1793
01:00:03,000 --> 01:00:03,400
SO THANK YOU.

1794
01:00:03,400 --> 01:00:06,069
WITH THAT, I'M GOING TO INVITE

1795
01:00:06,069 --> 01:00:06,536
CARRIE BACK UP.

1796
01:00:06,536 --> 01:00:16,713
[APPLAUSE]

1797
01:00:32,963 --> 01:00:34,464
>> SO THANK YOU, LES AND
JOSH,

1798
01:00:34,464 --> 01:00:35,999
FOR TEEING US UP.

1799
01:00:35,999 --> 01:00:38,101
SO WHERE WE KIND OF LEFT OFF

1800
01:00:38,101 --> 01:00:39,770
WITH, YOU MS. COLEMAN, WAS YOU

1801
01:00:39,770 --> 01:00:41,138
HAD BEEN GOING THROUGH SEVERAL

1802
01:00:41,138 --> 01:00:43,507
HEALTH CHALLENGES INCLUDING THE

1803
01:00:43,507 --> 01:00:46,576
HEART CONDITION, THE GLAUCOMA,

1804
01:00:46,576 --> 01:00:50,981
CARPAL TUNNEL SYNDROME, THE NA 

1805
01:00:50,981 --> 01:00:51,782
NEUROPATHY, EVERYTHING ELSE THAT

1806
01:00:51,782 --> 01:00:53,550
WAS GOING ON WITH YOUR HEALTH,

1807
01:00:53,550 --> 01:00:55,052
AND NO ONE WAS REALLY CONNECTING

1808
01:00:55,052 --> 01:00:56,353
ALL OF THE DOTS BETWEEN ALL OF

1809
01:00:56,353 --> 01:00:59,856
THESE DIFFERENT THINGS.

1810
01:00:59,856 --> 01:01:02,326
AND THEN IN 2022, I CALLED YOU

1811
01:01:02,326 --> 01:01:02,526
UP.

1812
01:01:02,526 --> 01:01:04,962
AND I SAID, HI, MS. COLEMAN.

1813
01:01:04,962 --> 01:01:07,130
I'M CALLING FROM A RESEARCH

1814
01:01:07,130 --> 01:01:12,235
STUDY AT THE NIH, AND I THINK WE

1815
01:01:12,235 --> 01:01:14,338
MAY HAVE FOUND A GENETIC VARIANT

1816
01:01:14,338 --> 01:01:17,474
OR A CHANGE IN YOUR DNA THAT

1817
01:01:17,474 --> 01:01:18,642
COULD BE ASSOCIATED WITH THIS

1818
01:01:18,642 --> 01:01:21,178
CONDITION CALLED TTR

1819
01:01:21,178 --> 01:01:24,982
AMYLOIDOSIS.

1820
01:01:24,982 --> 01:01:26,216
AND WE TALKED A LITTLE BIT ABOUT

1821
01:01:26,216 --> 01:01:28,385
WHAT THAT DNA CHANGE COULD MEAN

1822
01:01:28,385 --> 01:01:28,952
FOR YOUR HEALTH.

1823
01:01:28,952 --> 01:01:31,121
WE TALKED A LITTLE BIT ABOUT IT.

1824
01:01:31,121 --> 01:01:32,723
TR AMYLOIDOSIS AND THE FACT THAT

1825
01:01:32,723 --> 01:01:35,459
IT'S ASSOCIATED WITH THIS HEART

1826
01:01:35,459 --> 01:01:37,861
CONDITION AND THESE NERVE

1827
01:01:37,861 --> 01:01:40,731
PROBLEMS, GLAUCOMA AND ALL OF

1828
01:01:40,731 --> 01:01:42,232
THESE OTHER DIFFERENT FEATURES,

1829
01:01:42,232 --> 01:01:44,634
AND WHAT DID YOU SAY TO ME?

1830
01:01:44,634 --> 01:01:45,535
DO YOU REMEMBER?

1831
01:01:45,535 --> 01:01:50,173
>> NO, FIRST OF ALL, I WAS

1832
01:01:50,173 --> 01:01:53,410
SHOCKED TO HEAR FROM YOU, AND I

1833
01:01:53,410 --> 01:01:53,877
COULDN'T BELIEVE IT.

1834
01:01:53,877 --> 01:01:55,379
I WAS LIKE, WHAT?

1835
01:01:55,379 --> 01:01:58,448
THIS IS BACK IN 2014, WHEN I

1836
01:01:58,448 --> 01:01:59,850
FIRST DID THAT FIRST STUDY, BUT

1837
01:01:59,850 --> 01:02:03,353
I CANNOT RECALL WHAT I SAID TO

1838
01:02:03,353 --> 01:02:05,122
YOU.

1839
01:02:05,122 --> 01:02:06,823
>> YOU SAID, OH, MY GOSH,
I

1840
01:02:06,823 --> 01:02:08,025
THINK YOU FOUND IT!

1841
01:02:08,025 --> 01:02:11,628
IT WAS CRAZY.

1842
01:02:11,628 --> 01:02:13,397
I MEAN, IT WAS, YOU KNOW, I

1843
01:02:13,397 --> 01:02:14,765
THINK YOU WERE VERY SURPRISED

1844
01:02:14,765 --> 01:02:15,932
THAT AS I WAS DESCRIBING,

1845
01:02:15,932 --> 01:02:18,402
BECAUSE WHEN I CALLED YOU, I

1846
01:02:18,402 --> 01:02:19,903
CALLED YOU WITHOUT A LOT OF THE

1847
01:02:19,903 --> 01:02:24,441
PEN FIT OF THOSE UPD -- THE BENF

1848
01:02:24,441 --> 01:02:26,743
THOSE UPDATED MEDICAL HISTORIES.

1849
01:02:26,743 --> 01:02:28,278
I SAID THERE'S A CHANGE IN THIS

1850
01:02:28,278 --> 01:02:31,081
TTR GENE, HERE'S WHAT IT CAN BE

1851
01:02:31,081 --> 01:02:32,382
ASSOCIATED WITH, CARPAL TUNNEL

1852
01:02:32,382 --> 01:02:34,051
SYNDROME, GLAUCOMA, NERVE

1853
01:02:34,051 --> 01:02:35,452
PROBLEM, HEART PROBLEM.

1854
01:02:35,452 --> 01:02:37,320
AND I THINK THAT'S WHEN MAYBE

1855
01:02:37,320 --> 01:02:38,622
SOME OF THE PUZZLE PIECES REALLY

1856
01:02:38,622 --> 01:02:40,957
KIND OF STARTED TO FIT TOGETHER.

1857
01:02:40,957 --> 01:02:43,527
>> YEAH, AND I TELL YOU,
AS A

1858
01:02:43,527 --> 01:02:47,998
RESULT OF THE CALL, I WAS HAPPY

1859
01:02:47,998 --> 01:02:50,400
TO GET -- I WAS HAPPY TO BE ABLE

1860
01:02:50,400 --> 01:02:53,470
TO TIE THE PIECES TOGETHER,

1861
01:02:53,470 --> 01:02:54,838
BECAUSE I HAD ALL OF THESE

1862
01:02:54,838 --> 01:02:57,641
THINGS GOING ON WITH ME AND NO

1863
01:02:57,641 --> 01:03:01,945
ONE COULD TELL ME WHY.

1864
01:03:01,945 --> 01:03:03,580
SO WHEN YOU CALLED ME, I WAS

1865
01:03:03,580 --> 01:03:05,982
JUST LIKE, OH, MY GOODNESS, I

1866
01:03:05,982 --> 01:03:11,088
FINALLY GOT AN ANSWER TO WHY I

1867
01:03:11,088 --> 01:03:12,189
HAVE ALL OF THESE ISSUES.

1868
01:03:12,189 --> 01:03:13,390
SO I WAS PLEASED TO GET THAT

1869
01:03:13,390 --> 01:03:16,893
CALL.

1870
01:03:16,893 --> 01:03:19,362
>> WHAT DID AN ANSWER MEAN
TO

1871
01:03:19,362 --> 01:03:20,897
YOU, AT THAT TIME OR SINCE THEN?

1872
01:03:20,897 --> 01:03:22,332
>> AT THAT TIME, BELIEVE
IT OR

1873
01:03:22,332 --> 01:03:24,234
NOT, I THOUGHT ABOUT MYSELF AND

1874
01:03:24,234 --> 01:03:26,002
MY ISSUE, BUT I IMMEDIATELY WENT

1875
01:03:26,002 --> 01:03:30,707
TO MY MOM, BECAUSE MY MOM WAS

1876
01:03:30,707 --> 01:03:32,309
HAVING ALL THE ISSUES THAT I'M

1877
01:03:32,309 --> 01:03:34,444
HAVING, AND I WAS JUST LIKE, OH,

1878
01:03:34,444 --> 01:03:36,146
MY GOD, I WONDER IF THIS IS

1879
01:03:36,146 --> 01:03:40,183
SOMETHING THAT MY MOM HAS, YOU

1880
01:03:40,183 --> 01:03:42,352
KNOW, CAN WE HELP HER, BECAUSE

1881
01:03:42,352 --> 01:03:44,121
SHE'S 90 AND SHE WAS HAVING ALL

1882
01:03:44,121 --> 01:03:49,192
THESE HEALTH ISSUES, AND I WAS

1883
01:03:49,192 --> 01:03:53,930
JUST HAPPY TO KNOW THAT TH THERE

1884
01:03:53,930 --> 01:03:55,866
WAS AN ANSWER TO THESE ISSUES.

1885
01:03:55,866 --> 01:03:59,136
AND HOPEFULLY BY HAVING AN

1886
01:03:59,136 --> 01:04:00,437
ANSWER, THERE WOULD BE SOME KIND

1887
01:04:00,437 --> 01:04:03,073
OF WAY WE COULD SLOW DOWN THE

1888
01:04:03,073 --> 01:04:07,944
PROCESS THAT I WAS GOING THRO 

1889
01:04:07,944 --> 01:04:09,613
THROUGH, COULD MAYBE TRY TO

1890
01:04:09,613 --> 01:04:12,249
PREVENT SOME OF THE OTHER

1891
01:04:12,249 --> 01:04:13,116
SYMPTOMS THAT COULD BE

1892
01:04:13,116 --> 01:04:16,052
ASSOCIATED WITH THIS DISEASE.

1893
01:04:16,052 --> 01:04:20,991
SO, YEAH, IT WAS DEFINITELY AN

1894
01:04:20,991 --> 01:04:22,125
EYE OPENER FOR ME.

1895
01:04:22,125 --> 01:04:23,393
>> WE HAD MENTIONED YOU
THOUGHT

1896
01:04:23,393 --> 01:04:24,861
ABOUT JOINING THESE RESEARCH

1897
01:04:24,861 --> 01:04:27,297
STUDIES BECAUSE OF YOUR FAMILY

1898
01:04:27,297 --> 01:04:28,932
HISTORY, AND YOU KNOW, I KNOW

1899
01:04:28,932 --> 01:04:31,635
THAT TRYING TO THINK ABOUT HOW

1900
01:04:31,635 --> 01:04:32,769
YOU COULD APPLY THIS INFORMATION

1901
01:04:32,769 --> 01:04:34,004
TO THE REST OF YOUR FAMILY WAS

1902
01:04:34,004 --> 01:04:34,604
SOMETHING THAT WAS REALLY

1903
01:04:34,604 --> 01:04:35,572
IMPORTANT TO YOU TOO.

1904
01:04:35,572 --> 01:04:38,508
SO THAT'S SOMETHING THAT I THINK

1905
01:04:38,508 --> 01:04:39,476
WE'LL COME BACK TO.

1906
01:04:39,476 --> 01:04:40,877
SO YOU KNOW, YOU CONNECTED IT

1907
01:04:40,877 --> 01:04:42,979
RIGHT AWAY TO YOUR OWN HEALTH

1908
01:04:42,979 --> 01:04:44,481
HISTORY AND WHAT WAS GOING ON

1909
01:04:44,481 --> 01:04:48,084
WITH YOU PERSONALLY.

1910
01:04:48,084 --> 01:04:51,254
AND SO AFTER I CALLED YOU WITH

1911
01:04:51,254 --> 01:04:52,856
THIS RESULT, WE OFFERED TO HAVE

1912
01:04:52,856 --> 01:04:55,058
YOU COME IN TO THE NIH CLINICAL

1913
01:04:55,058 --> 01:04:57,360
CENTER AND ACTUALLY GET CHECKED

1914
01:04:57,360 --> 01:04:59,095
OUT TO SEE HOW MANY OF THESE

1915
01:04:59,095 --> 01:05:02,199
FEATURES OF TTR AMYLOIDOSIS

1916
01:05:02,199 --> 01:05:04,734
COULD BE PRESENT IN YOU AND ALSO

1917
01:05:04,734 --> 01:05:06,503
HOW IT COULD TIE INTO SOME OF

1918
01:05:06,503 --> 01:05:07,571
THE DIAGNOSES THAT YOU HAD

1919
01:05:07,571 --> 01:05:12,709
ALREADY RECEIVED.

1920
01:05:12,709 --> 01:05:14,144
SO DO YOU WANT TO SHARE A LITTLE

1921
01:05:14,144 --> 01:05:15,245
BIT ABOUT WHAT WE FOUND WHEN YOU

1922
01:05:15,245 --> 01:05:16,947
CAME IN TO THE NIH AND WE HAD

1923
01:05:16,947 --> 01:05:24,254
YOUR VISIT?

1924
01:05:24,254 --> 01:05:25,689
>> WHEN I CAME INTO THE
NIH, YOU

1925
01:05:25,689 --> 01:05:27,057
GUYS WERE VERY THOROUGH AND A

1926
01:05:27,057 --> 01:05:28,158
LOT OCCURRED THAT DAY.

1927
01:05:28,158 --> 01:05:31,561
WHEN IT CAME TO THE TINGLING AND

1928
01:05:31,561 --> 01:05:34,698
THE NERVE SENSATION THAT WAS

1929
01:05:34,698 --> 01:05:40,503
THERE IN MY LEG, MY TOES, MY

1930
01:05:40,503 --> 01:05:43,240
HAND, YOU FOUND THAT TO BE A

1931
01:05:43,240 --> 01:05:45,809
SIGNIFICANT PART.

1932
01:05:45,809 --> 01:05:47,811
I HAD A VERY THOROUGH EYE EXAM

1933
01:05:47,811 --> 01:05:49,346
AND LOOKED AT A COUPLE THINGS

1934
01:05:49,346 --> 01:05:52,082
THERE.

1935
01:05:52,082 --> 01:05:54,651
TOOK A LOOK AT THE HEART AND

1936
01:05:54,651 --> 01:05:55,652
THANKFUL YOU DIDN'T SEE ANYTHING

1937
01:05:55,652 --> 01:06:00,156
THERE, SO I WAS EXCITED ABOUT

1938
01:06:00,156 --> 01:06:00,357
THAT.

1939
01:06:00,357 --> 01:06:02,993
>> YES, WE WERE TOO.

1940
01:06:02,993 --> 01:06:03,860
DEFINITELY VERY GRATEFUL FOR

1941
01:06:03,860 --> 01:06:04,227
THAT.

1942
01:06:04,227 --> 01:06:05,462
SO YOU KNOW, WE DID THAT FULL

1943
01:06:05,462 --> 01:06:08,531
CHECKUP OF YOUR HEART, AND WE

1944
01:06:08,531 --> 01:06:10,000
DID FIND YOUR HEART RATE WAS A

1945
01:06:10,000 --> 01:06:11,568
LITTLE BIT SLOW BUT THAT IT WAS

1946
01:06:11,568 --> 01:06:13,303
PUMPING OUT BLOOD AT THE RIGHT

1947
01:06:13,303 --> 01:06:17,340
RATE AND WE DIDN'T SEE ANY

1948
01:06:17,340 --> 01:06:18,842
AMYLOID IN YOUR HEART WHICH WE

1949
01:06:18,842 --> 01:06:20,810
WERE ALSO VERY GRATEFUL TO SEE.

1950
01:06:20,810 --> 01:06:22,912
WE DID ATTRIBUTE -- WE THINK

1951
01:06:22,912 --> 01:06:24,180
THESE FEELINGS OF PAIN AND

1952
01:06:24,180 --> 01:06:25,482
NUMBNESS AND TINGLING YOU HAD IN

1953
01:06:25,482 --> 01:06:27,684
YOUR FINGERS AND TOES COULD BE

1954
01:06:27,684 --> 01:06:30,854
RELATED TO WHAT WE CALL A SMALL

1955
01:06:30,854 --> 01:06:33,256
AND LARGE FIBER PERIPHERAL

1956
01:06:33,256 --> 01:06:34,724
NEUROPATHY, WHICH WE KNOW CAN BE

1957
01:06:34,724 --> 01:06:37,861
ONE OF THE SIGNS OF TTR

1958
01:06:37,861 --> 01:06:38,628
AMYLOIDOSIS.

1959
01:06:38,628 --> 01:06:40,563
WE CONFIRMED THIS DIAGNOSIS OF

1960
01:06:40,563 --> 01:06:42,098
CARPAL TUNNEL SYNDROME AND

1961
01:06:42,098 --> 01:06:43,733
GLAUCOMA THAT YOU'D ALREADY

1962
01:06:43,733 --> 01:06:46,236
SEEN, AND THEN WE ALSO REFERRED

1963
01:06:46,236 --> 01:06:48,872
YOU TO JOHNS HOPKINS, WHERE THEY

1964
01:06:48,872 --> 01:06:50,273
ACTUALLY HAVE A CENTER OF

1965
01:06:50,273 --> 01:06:53,176
EXCELLENCE FOR TTR AMYLOIDOSIS

1966
01:06:53,176 --> 01:06:54,511
AND A LOT OF SPECIALTY DOCTORS

1967
01:06:54,511 --> 01:06:56,379
WHO ARE REALLY DEDICATED TO

1968
01:06:56,379 --> 01:06:57,013
WORKING SPECIFICALLY ON THIS

1969
01:06:57,013 --> 01:06:58,114
CONDITION.

1970
01:06:58,114 --> 01:06:59,282
AND SINCE THEN, YOU'VE BEEN ABLE

1971
01:06:59,282 --> 01:07:01,051
TO GO THERE AND GET SOME

1972
01:07:01,051 --> 01:07:02,452
FOLLOW-UP EVALUATIONS TOO.

1973
01:07:02,452 --> 01:07:02,786
>> YES, YES.

1974
01:07:02,786 --> 01:07:03,320
THANK YOU.

1975
01:07:03,320 --> 01:07:05,055
THAT WAS VERY HELPFUL.

1976
01:07:05,055 --> 01:07:06,923
I DID -- IT TOOK ME A WHILE TO

1977
01:07:06,923 --> 01:07:08,858
GET IN TO JOHNS HOPKINS, BUT I

1978
01:07:08,858 --> 01:07:12,495
GOT IN THERE, AND THE CARE I

1979
01:07:12,495 --> 01:07:15,765
RECEIVED WAS REALLY GREAT.

1980
01:07:15,765 --> 01:07:24,941
I HAD THE NM AMYLOID --

1981
01:07:24,941 --> 01:07:26,710
>> THE NUCLEAR MEDICINE
STUDY?

1982
01:07:26,710 --> 01:07:29,779
>> YES, NUCLEAR MEDICINE
STUDY

1983
01:07:29,779 --> 01:07:32,682
THERE, WHICH WAS EXTENSIVE.

1984
01:07:32,682 --> 01:07:34,184
I MEAN, I HAD TO DRINK AND I HAD

1985
01:07:34,184 --> 01:07:38,922
TO DO SOME INJECTION.

1986
01:07:38,922 --> 01:07:40,223
SO I'M HAPPY TO REPORT AFTER

1987
01:07:40,223 --> 01:07:41,958
THAT STUDY THAT CAME BACK

1988
01:07:41,958 --> 01:07:43,026
NEGATIVE FOR AMYLOID, SO I DON'T

1989
01:07:43,026 --> 01:07:46,863
HAVE ANY IN MY HEART AS WELL.

1990
01:07:46,863 --> 01:07:51,234
THEN I -- AND I DID THE NERVE

1991
01:07:51,234 --> 01:07:53,370
TESTING THERE AS WELL, AND AS A

1992
01:07:53,370 --> 01:07:59,409
RESULT OF THAT, I WAS REFERRED

1993
01:07:59,409 --> 01:08:01,811
AND I HAD SURGERY FOR MY CARPAL

1994
01:08:01,811 --> 01:08:02,545
TUNNEL, AND AT THE SAME TIME

1995
01:08:02,545 --> 01:08:04,214
WHEN I HAD THE SURGERY FOR THAT,

1996
01:08:04,214 --> 01:08:08,418
THEY DID DO A BIOPSY, AND I AM

1997
01:08:08,418 --> 01:08:12,389
HAPPY TO REPORT THAT BIOPSY CAME

1998
01:08:12,389 --> 01:08:17,427
BACK NEGATIVE FOR AMYLOID TOO.

1999
01:08:17,427 --> 01:08:22,332
BUT WILL O THE ONLY DISAPPOINTIG

2000
01:08:22,332 --> 01:08:23,533
IS THIS CAN BE SOMETHING THAT'S

2001
01:08:23,533 --> 01:08:25,034
VERY PATCHY, AND JUST BECAUSE I

2002
01:08:25,034 --> 01:08:27,771
DON'T HAVE IT HERE IN MY ARM

2003
01:08:27,771 --> 01:08:29,406
DOESN'T MEAN IT CANNOT BE

2004
01:08:29,406 --> 01:08:31,274
PRESENT IN OTHER PARTS OF MY

2005
01:08:31,274 --> 01:08:31,808
BODY.

2006
01:08:31,808 --> 01:08:33,877
SO I JUST WISH THERE WAS SOME

2007
01:08:33,877 --> 01:08:37,380
OTHER KIND OF WAY I COULD TELL

2008
01:08:37,380 --> 01:08:38,715
WHETHER OR NOT IT WAS PRESENT IN

2009
01:08:38,715 --> 01:08:40,750
ANOTHER PART OF MY BODY VERSUS

2010
01:08:40,750 --> 01:08:45,555
HAVING TO DO A BIOPSY OF

2011
01:08:45,555 --> 01:08:46,790
EVERYTHING TO MAKE SURE WITH THE

2012
01:08:46,790 --> 01:08:48,892
EXCEPTION OF THE HEART.

2013
01:08:48,892 --> 01:08:51,194
>> SO YOU KNOW, WE
OBVIOUSLY

2014
01:08:51,194 --> 01:08:54,297
GAVE YOU THAT GENETIC RESULT AND

2015
01:08:54,297 --> 01:08:55,832
WE'VE TRIED TO DO TESTING FOR

2016
01:08:55,832 --> 01:08:57,700
ALL OF THOSE DIFFERENT SYMPTOMS,

2017
01:08:57,700 --> 01:08:59,335
BUT THAT STILL FEELS A LITTLE

2018
01:08:59,335 --> 01:09:00,804
DIFFERENT THAN BEING ABLE TO

2019
01:09:00,804 --> 01:09:04,040
POINT TO A PICTURE AND SAY OKAY,

2020
01:09:04,040 --> 01:09:05,742
WE DEFINITELY SEE SOME AMYLOID

2021
01:09:05,742 --> 01:09:08,611
DEPOSIT THERE OR, OKAY, WE COULD

2022
01:09:08,611 --> 01:09:10,046
ACTUALLY TEST THROUGHOUT YOUR

2023
01:09:10,046 --> 01:09:11,881
WHOLE BODY AND WE DEFINITELY

2024
01:09:11,881 --> 01:09:13,950
DON'T SEE ANY AMYLOID ANYWHERE.

2025
01:09:13,950 --> 01:09:15,251
IT SOUNDS LIKE THAT KIND OF

2026
01:09:15,251 --> 01:09:16,352
UNCERTAINTY HAS BEEN A LITTLE

2027
01:09:16,352 --> 01:09:17,020
CHALLENGING.

2028
01:09:17,020 --> 01:09:18,321
>> YES, YES.

2029
01:09:18,321 --> 01:09:20,290
AND THAT'S BEEN DISAPPOINTING,

2030
01:09:20,290 --> 01:09:22,992
BUT I UNDERSTAND THIS IS VERY

2031
01:09:22,992 --> 01:09:25,195
NEW, AND YOU STILL ARE LOOKING

2032
01:09:25,195 --> 01:09:28,998
AT WAYS TO STUDY, SO MAYBE YOU

2033
01:09:28,998 --> 01:09:31,835
GET TO THE .1 DAY, YOU WILL BE

2034
01:09:31,835 --> 01:09:34,337
ABLE TO SAY TO ME, OKAY, WE CAN

2035
01:09:34,337 --> 01:09:36,773
DO THIS ONE PARTICULAR TEST AND

2036
01:09:36,773 --> 01:09:40,143
WE CAN TELL YOU THAT THIS IS NOT

2037
01:09:40,143 --> 01:09:41,878
PRESENT ANYWHERE IN YOUR BODY,

2038
01:09:41,878 --> 01:09:45,615
AND THAT WOULD BE -- I WOULD BE

2039
01:09:45,615 --> 01:09:48,017
EXCITED TO HEAR THAT.

2040
01:09:48,017 --> 01:09:49,652
ONE OF THE THINGS JOHNS HOPKINS

2041
01:09:49,652 --> 01:09:52,789
IS GOING TO BE LOOKING AT NOW --

2042
01:09:52,789 --> 01:09:55,992
BECAUSE OF MY AGE, THEY WOULD

2043
01:09:55,992 --> 01:09:57,594
WANT ME TO COME BACK IN TWO

2044
01:09:57,594 --> 01:10:01,097
YEARS, AND THEY WILL REPEAT THE

2045
01:10:01,097 --> 01:10:03,399
SAME TEST THAT THEY DID FOR ME

2046
01:10:03,399 --> 01:10:05,368
LAST YEAR.

2047
01:10:05,368 --> 01:10:08,037
BUT EVEN THOUGH THEY'RE GOING TO

2048
01:10:08,037 --> 01:10:09,639
REPEAT THE TEST IN TWO YEARS,

2049
01:10:09,639 --> 01:10:11,474
THEY STILL WILL WANT TO SEE ME

2050
01:10:11,474 --> 01:10:13,443
ONCE A YEAR, UP UNTIL THE TIME

2051
01:10:13,443 --> 01:10:15,011
THEY REPEAT THE TESTS THAT THEY

2052
01:10:15,011 --> 01:10:17,780
GAVE ME BACK IN DECEMBER OF

2053
01:10:17,780 --> 01:10:20,250
2023.

2054
01:10:20,250 --> 01:10:22,085
>> SO THIS IS GOING TO BE
KIND

2055
01:10:22,085 --> 01:10:23,720
OF LIKE AN ONGOING THING THAT

2056
01:10:23,720 --> 01:10:24,921
YOU'LL KEEP GETTING EVALUATED

2057
01:10:24,921 --> 01:10:26,122
FOR BECAUSE WE KNOW THAT THINGS

2058
01:10:26,122 --> 01:10:27,090
CAN DEVELOP AND CHANGE OVER

2059
01:10:27,090 --> 01:10:27,757
TIME.

2060
01:10:27,757 --> 01:10:30,260
>> YES.

2061
01:10:30,260 --> 01:10:30,426
YES.

2062
01:10:30,426 --> 01:10:35,265
>> SO I'M CURIOUS, YOU
KNOW, HOW

2063
01:10:35,265 --> 01:10:37,901
DO YOU FEEL KNOWING THIS

2064
01:10:37,901 --> 01:10:40,436
INFORMATION ABOUT THE RISK FOR

2065
01:10:40,436 --> 01:10:43,006
TTR AMYLOIDOSIS NOW COMPARED TO

2066
01:10:43,006 --> 01:10:45,441
WHEN YOU WERE FACING ALL OF

2067
01:10:45,441 --> 01:10:47,410
THOSE DIFFERENT HEALTH ISSUES

2068
01:10:47,410 --> 01:10:50,246
WITHOUT HAVING A UNIFYING

2069
01:10:50,246 --> 01:10:51,347
EXPLANATION TO FIT EVERYTHING

2070
01:10:51,347 --> 01:10:57,253
TOGETHER?

2071
01:10:57,253 --> 01:10:59,656
>> WELL, IT A DIFFERENT
FEELING

2072
01:10:59,656 --> 01:11:02,525
BECAUSE BEFORE, I DIDN'T HAVE NO

2073
01:11:02,525 --> 01:11:04,794
IDEA WHAT WE NEED TO LOOK FOR.

2074
01:11:04,794 --> 01:11:06,663
I WENT TO DIFFERENT SPECIALISTS

2075
01:11:06,663 --> 01:11:09,265
AND EVERYBODY WAS TELLING ME YOU

2076
01:11:09,265 --> 01:11:10,733
HAVE THIS, YOU HAVE THAT, BUT NO

2077
01:11:10,733 --> 01:11:13,169
ONE COULD TELL ME WHY.

2078
01:11:13,169 --> 01:11:16,372
SO NOW I KNOW WHAT TO BE LOOKING

2079
01:11:16,372 --> 01:11:22,579
FOR SO THAT I'M EXCITED ABOUT.

2080
01:11:22,579 --> 01:11:24,881
BECAUSE ONE OF THE THINGS, ALL

2081
01:11:24,881 --> 01:11:26,149
OF THESE DIAGNOSES THAT I'VE HAD

2082
01:11:26,149 --> 01:11:30,587
OVER THE YEARS, THE MOST SEVERE

2083
01:11:30,587 --> 01:11:32,388
DIAGNOSIS FOR ME WAS THE ONE

2084
01:11:32,388 --> 01:11:35,258
ASSOCIATED WITH MY HEART.

2085
01:11:35,258 --> 01:11:40,730
BELIEVE IT OR NOT, THAT WAS VERY

2086
01:11:40,730 --> 01:11:42,465
HARD FOR ME TO ACCEPT.

2087
01:11:42,465 --> 01:11:45,101
IT WAS BECAUSE I WASN'T

2088
01:11:45,101 --> 01:11:47,136
EXPERIENCING ANY SYMPTOMS FROM

2089
01:11:47,136 --> 01:11:49,572
THAT, WHICH THEY COULD NOT

2090
01:11:49,572 --> 01:11:51,741
BELIEVE, BECAUSE MY HEART WAS

2091
01:11:51,741 --> 01:11:56,446
BEATING AT SUCH A LOW RATE.

2092
01:11:56,446 --> 01:11:59,949
AND WHEN I RECEIVED A CALL TO

2093
01:11:59,949 --> 01:12:01,150
REPORT TO THE EMERGENCY ROOM, I

2094
01:12:01,150 --> 01:12:03,119
WAS LIKE, ARE YOU SURE YOU HAVE

2095
01:12:03,119 --> 01:12:05,188
THE RIGHT PERSON?

2096
01:12:05,188 --> 01:12:07,023
YOU KNOW, AND THEY WAS JUST

2097
01:12:07,023 --> 01:12:10,526
LIKE, YES, WE DO, AND I WAS

2098
01:12:10,526 --> 01:12:12,161
LIKE, OKAY, I WENT IN, THEY

2099
01:12:12,161 --> 01:12:14,430
HOOKED ME UP TO THE MONITOR, AND

2100
01:12:14,430 --> 01:12:17,300
DURING THAT WHOLE TIME, MY HEART

2101
01:12:17,300 --> 01:12:18,201
RATE WAS JUST DROPPING, THE

2102
01:12:18,201 --> 01:12:19,669
MACHINE WAS JUST GOING OFF, AND

2103
01:12:19,669 --> 01:12:23,072
I COULD NOT FEEL -- THAT WAS

2104
01:12:23,072 --> 01:12:28,211
VERY DISTURBING TO ME.

2105
01:12:28,211 --> 01:12:29,512
THE FACT THAT MY HEART WAS DOING

2106
01:12:29,512 --> 01:12:31,247
THAT, BUT I DIDN'T REALIZE.

2107
01:12:31,247 --> 01:12:37,387
SO I WAS VERY THANKFUL THAT MY

2108
01:12:37,387 --> 01:12:38,254
PRIMARY PHYSICIAN TOOK THE TIME

2109
01:12:38,254 --> 01:12:41,524
AND LISTENED TO MY HEART THAT

2110
01:12:41,524 --> 01:12:44,894
DAY AND ORDERED THAT MONITOR FOR

2111
01:12:44,894 --> 01:12:48,531
ME THAT I WORE FOR THAT MONTH

2112
01:12:48,531 --> 01:12:50,266
BECAUSE IT PROBABLY SAVED MY

2113
01:12:50,266 --> 01:12:52,001
LIFE, THE WAY I LOOK AT IT.

2114
01:12:52,001 --> 01:12:56,139
AND NOW I KNOW WHY.

2115
01:12:56,139 --> 01:12:56,839
 WITH YOUR

2116
01:12:56,839 --> 01:12:57,073
TESTING.

2117
01:12:57,073 --> 01:12:58,775
>> YOU HAD ALL OF THESE
KINDS OF

2118
01:12:58,775 --> 01:12:59,676
HIDDEN THINGS GOING ON THAT YOU

2119
01:12:59,676 --> 01:13:03,046
WOULD HAVE HAD NO IDEA, HAD

2120
01:13:03,046 --> 01:13:04,347
SOMEONE NOT THOUGHT TO ACTUALLY,

2121
01:13:04,347 --> 01:13:06,883
LIKE, CHECK YOU OUT FOR THEM,

2122
01:13:06,883 --> 01:13:08,184
LISTEN TO YOUR HEART, HAD

2123
01:13:08,184 --> 01:13:09,152
SOMEONE NOT THOUGHT TO LOOK

2124
01:13:09,152 --> 01:13:11,888
THROUGH YOUR DNA TO FIND THIS

2125
01:13:11,888 --> 01:13:13,523
SPECIFIC POTENTIAL EXPLANATION.

2126
01:13:13,523 --> 01:13:14,757
THERE'S A LOT GOING ON KIND OF

2127
01:13:14,757 --> 01:13:17,694
UNDER THE HOOD THAT REMAINED

2128
01:13:17,694 --> 01:13:17,927
HIDDEN.

2129
01:13:17,927 --> 01:13:18,995
>> YES, YES.

2130
01:13:18,995 --> 01:13:20,196
VERY MUCH SO.

2131
01:13:20,196 --> 01:13:23,566
YOU KNOW, AND IT WAS A RELIEF TO

2132
01:13:23,566 --> 01:13:26,302
ME BECAUSE I WAS REALLY

2133
01:13:26,302 --> 01:13:27,603
SURPRISED.

2134
01:13:27,603 --> 01:13:30,773
THEY HAD MY MOM TESTED AND SHE

2135
01:13:30,773 --> 01:13:32,408
CAME BACK NEGATIVE, SO THAT WAS

2136
01:13:32,408 --> 01:13:33,843
ANOTHER EYE OPENER FOR ME,

2137
01:13:33,843 --> 01:13:35,678
BECAUSE I WOULD HAVE ALMOST BET

2138
01:13:35,678 --> 01:13:38,014
MY LIFE ON THE FACT THAT MY MOM

2139
01:13:38,014 --> 01:13:40,950
HAD THIS TTR BECAUSE OF ALL THE

2140
01:13:40,950 --> 01:13:43,052
SYMPTOMS SHE WAS HAVING.

2141
01:13:43,052 --> 01:13:44,020
BUT SHE DOESN'T.

2142
01:13:44,020 --> 01:13:46,089
AND I'M HAPPY THAT SHE DOESN'T.

2143
01:13:46,089 --> 01:13:47,724
BUT IT'S JUST ONE OF THOSE

2144
01:13:47,724 --> 01:13:50,359
THINGS, IT'S HAPPENING TO HER.

2145
01:13:50,359 --> 01:13:52,662
IT'S NOT BECAUSE OF THE TTR.

2146
01:13:52,662 --> 01:13:54,697
>> JUST GOES TO SLOW
YOU'VE GOT

2147
01:13:54,697 --> 01:13:56,032
TO DO THE TEST AND YOU DON'T

2148
01:13:56,032 --> 01:13:57,133
KNOW UNTIL YOU DO THE TEST.

2149
01:13:57,133 --> 01:13:58,234
CAN YOU TELL ME A LITTLE BIT

2150
01:13:58,234 --> 01:13:58,901
MORE ABOUT THAT?

2151
01:13:58,901 --> 01:14:00,636
HOW HAS -- SO WE OBVIOUSLY KNOW

2152
01:14:00,636 --> 01:14:02,839
WE SHARE GENES WITH OUR FAMILY

2153
01:14:02,839 --> 01:14:05,641
MEMBERS, AND SO SOMETIMES WE CAN

2154
01:14:05,641 --> 01:14:07,844
PASS DOWN OR SHARE THESE GENE

2155
01:14:07,844 --> 01:14:09,378
VARIANTS THAT CAN INCREASE OUR

2156
01:14:09,378 --> 01:14:10,680
CHANCE TO DEVELOP THESE

2157
01:14:10,680 --> 01:14:11,214
CONDITIONS.

2158
01:14:11,214 --> 01:14:13,316
HOW HAS THAT GONE FOR YOU,

2159
01:14:13,316 --> 01:14:15,184
SHARING THIS NEWS OF THIS

2160
01:14:15,184 --> 01:14:16,252
GENETIC RESULT WITH YOUR FAMILY

2161
01:14:16,252 --> 01:14:18,121
MEMBERS?

2162
01:14:18,121 --> 01:14:21,824
>> WELL, THEY WAS
SURPRISED.

2163
01:14:21,824 --> 01:14:23,459
AS SURPRISED AS I WAS WHEN I

2164
01:14:23,459 --> 01:14:24,761
RECEIVED THE INFORMATION.

2165
01:14:24,761 --> 01:14:31,134
AND SINCE THEN, MY TWO SISTERS

2166
01:14:31,134 --> 01:14:32,668
HAVE TAKEN THE TEST BUT THEY

2167
01:14:32,668 --> 01:14:35,171
HAVEN'T RECEIVED THE RESULTS

2168
01:14:35,171 --> 01:14:36,973
BACK THROUGH JOHNS HOPKINS.

2169
01:14:36,973 --> 01:14:38,207
SO THEY'RE WAITING TO GET THE

2170
01:14:38,207 --> 01:14:40,176
RESULTS BACK.

2171
01:14:40,176 --> 01:14:41,177
AND THEN WE'RE JUST GOING TO

2172
01:14:41,177 --> 01:14:45,982
WORK ON IT FROM THERE.

2173
01:14:45,982 --> 01:14:47,650
THEY WERE SHOCKED.

2174
01:14:47,650 --> 01:14:49,852
NEVER HEARD OF IT, SAME AS ME,

2175
01:14:49,852 --> 01:14:51,487
SO -- YES.

2176
01:14:51,487 --> 01:14:54,123
>> HOW DID IT FEEL WHEN
YOU HAD

2177
01:14:54,123 --> 01:14:55,958
TO KIND OF PICK UP THE PHONE AND

2178
01:14:55,958 --> 01:14:56,526
CALL THEM?

2179
01:14:56,526 --> 01:14:59,562
WAWHAT WAS THAT EXPERIENCE LIKE

2180
01:14:59,562 --> 01:14:59,896
FOR YOU?

2181
01:14:59,896 --> 01:15:03,432
>> WELL, ACTUALLY I WAS
RELIEVED

2182
01:15:03,432 --> 01:15:05,168
OF THE FACT BECAUSE I'VE BEEN

2183
01:15:05,168 --> 01:15:06,369
TELLING THEM ALL OF THESE THINGS

2184
01:15:06,369 --> 01:15:10,807
THAT WAS GOING ON WITH ME AND TO

2185
01:15:10,807 --> 01:15:12,141
POSSIBLY HAVE A SOLUTION OF WHAT

2186
01:15:12,141 --> 01:15:15,645
COULD BE CAUSING ALL OF THIS,

2187
01:15:15,645 --> 01:15:17,380
REALLY I WAS RELIEVED, BECAUSE

2188
01:15:17,380 --> 01:15:19,048
SOMETIME WHEN YOU COMPLAIN ABOUT

2189
01:15:19,048 --> 01:15:21,317
SO MANY DIFFERENT THINGS, PEOPLE

2190
01:15:21,317 --> 01:15:23,653
HAVE A TENDENCY TO WONDER WHAT'S

2191
01:15:23,653 --> 01:15:25,721
WRONG WITH YOU, ARE THESE THINGS

2192
01:15:25,721 --> 01:15:27,690
REALLY GOING ON WITH YOU.

2193
01:15:27,690 --> 01:15:32,161
SO TO BE ABLE TO SAY YES, I HAVE

2194
01:15:32,161 --> 01:15:34,463
SOMETHING THAT I CAN SAY THIS IS

2195
01:15:34,463 --> 01:15:36,532
WHY THIS IS HAPPENING TO ME.

2196
01:15:36,532 --> 01:15:40,670
SO IT WAS VERY IMPORTANT, I WAS

2197
01:15:40,670 --> 01:15:43,873
VERY RELIEVED TO TELL MY FAMILY.

2198
01:15:43,873 --> 01:15:47,310
NOT SURE THEY WAS AS EXCITED AS

2199
01:15:47,310 --> 01:15:51,247
I WAS TO HEAR ABOUT IT.

2200
01:15:51,247 --> 01:15:54,350
>> THAT'S FAIR.

2201
01:15:54,350 --> 01:15:55,785
IT SOUNDS LIKE IT WAS A BIG

2202
01:15:55,785 --> 01:15:58,087
WEIGHT OFF OF YOU TO BE ABLE TO

2203
01:15:58,087 --> 01:16:02,792
SAY OKAY, NOW I HAVE, YOU KNOW,

2204
01:16:02,792 --> 01:16:04,293
GRANTED A VERY LONG TWO-WORD

2205
01:16:04,293 --> 01:16:06,262
PHRASE FOR WHAT IS GOING ON WITH

2206
01:16:06,262 --> 01:16:06,829
ME.

2207
01:16:06,829 --> 01:16:08,264
IT'S A RELIEF TO BE ABLE TO SAY

2208
01:16:08,264 --> 01:16:10,766
THAT OUT LOUD, PUT A NAME TO IT,

2209
01:16:10,766 --> 01:16:12,969
SAY OKAY, NOW HERE IS THIS PIECE

2210
01:16:12,969 --> 01:16:13,502
OF PAPER.

2211
01:16:13,502 --> 01:16:15,371
I JUST NEED YOU TO GO GET TESTED

2212
01:16:15,371 --> 01:16:16,906
FOR THAT BUT I'D IMAGINE ON THE

2213
01:16:16,906 --> 01:16:18,074
OTHER END RECEIVING THAT PIECE

2214
01:16:18,074 --> 01:16:19,609
OF PAPER CAN DEFINITELY COME AS

2215
01:16:19,609 --> 01:16:21,711
A SURPRISE AND LIKE AN OH,

2216
01:16:21,711 --> 01:16:23,412
GOODNESS, NOW WHAT AM I IN FOR.

2217
01:16:23,412 --> 01:16:28,017
>> YEAH, YEAH, IT TRULY
WAS A

2218
01:16:28,017 --> 01:16:28,284
SURPRISE.

2219
01:16:28,284 --> 01:16:30,453
AND BECAUSE OF THE LOCATION OF

2220
01:16:30,453 --> 01:16:32,722
MY FAMILY, WHICH -- ALL MY

2221
01:16:32,722 --> 01:16:34,390
FAMILY IS LOCATED IN

2222
01:16:34,390 --> 01:16:35,358
MISSISSIPPI, AND THE TESTING

2223
01:16:35,358 --> 01:16:39,495
THERE IS NOT REALLY AVAILABLE

2224
01:16:39,495 --> 01:16:42,999
FOR THEM TO HAVE IT DONE.

2225
01:16:42,999 --> 01:16:45,735
THAT'S ONE OF THE REASONS WHY

2226
01:16:45,735 --> 01:16:47,403
THEY SENT THEM TO BE TESTED HERE

2227
01:16:47,403 --> 01:16:49,205
AT JOHNS HOPKINS, AND THAT'S ONE

2228
01:16:49,205 --> 01:16:50,673
OF THE OTHER PRIMARY REASONS I

2229
01:16:50,673 --> 01:16:53,843
WAS HAPPY THAT MY MOM TESTED

2230
01:16:53,843 --> 01:16:56,012
NEGATIVE FOR THAT, BECAUSE

2231
01:16:56,012 --> 01:16:57,647
THAT'S JUST NOT SOMETHING THAT

2232
01:16:57,647 --> 01:17:00,383
SHE COULD -- ABLE TO TRAVEL TO

2233
01:17:00,383 --> 01:17:07,390
BE TREATED FOR, EVEN EXPLORE THE

2234
01:17:07,390 --> 01:17:08,791
POSSIBILITY, DO SHE ACTUALLY

2235
01:17:08,791 --> 01:17:10,359
HAVE THE DISEASE ITSELF.

2236
01:17:10,359 --> 01:17:15,031
>> THAT MAKES PERFECT
SENSE.

2237
01:17:15,031 --> 01:17:15,998
SO DEFINITELY THINKING ABOUT

2238
01:17:15,998 --> 01:17:16,899
THOSE KIND OF NEXT STEPS THAT

2239
01:17:16,899 --> 01:17:18,434
CAN COME FOR FAMILY MEMBERS WHO

2240
01:17:18,434 --> 01:17:19,635
MIGHT TEST POSITIVE ARE

2241
01:17:19,635 --> 01:17:26,609
IMPORTANT TO CONSIDER TOO.

2242
01:17:26,609 --> 01:17:27,743
DO YOU HAVE ADVICE FOR ANYBODY

2243
01:17:27,743 --> 01:17:29,145
ELSE WHO MIGHT BE IN A SIMILAR

2244
01:17:29,145 --> 01:17:31,013
POSITION WHO, YOU KNOW, MIGHT

2245
01:17:31,013 --> 01:17:32,415
RECEIVE ONE OF THESE GENETIC

2246
01:17:32,415 --> 01:17:33,616
RESULTS FROM THESE KINDS OF

2247
01:17:33,616 --> 01:17:35,017
STUDIES?

2248
01:17:35,017 --> 01:17:39,889
>> WELL, FIRST OF ALL, I
THINK

2249
01:17:39,889 --> 01:17:41,624
MY ADVICE, I WOULD WANT TO

2250
01:17:41,624 --> 01:17:45,695
ENCOURAGE EVERYONE TO

2251
01:17:45,695 --> 01:17:47,430
PARTICIPATE TOMMY EVEN WHEN I

2252
01:17:47,430 --> 01:17:52,568
DID THE STUDY BACK IN 2014, I

2253
01:17:52,568 --> 01:17:54,103
WAS GOING AROUND BEGGING PEOPLE

2254
01:17:54,103 --> 01:17:55,204
TO PARTICIPATE BECAUSE I WANTED

2255
01:17:55,204 --> 01:18:00,309
TO GET TO THE -- SO WE CAN GET

2256
01:18:00,309 --> 01:18:01,444
THE RESULTS, SO I REALLY WANTED

2257
01:18:01,444 --> 01:18:03,179
TO FIND OUT, DID I HAVE ANYTHING

2258
01:18:03,179 --> 01:18:05,581
GOING ON WITH MY HEART, BECAUSE

2259
01:18:05,581 --> 01:18:09,185
OF MY GRANDMOTHER.

2260
01:18:09,185 --> 01:18:12,788
AND SO I WOULD SAY IT'S REALLY

2261
01:18:12,788 --> 01:18:13,689
IMPORTANT.

2262
01:18:13,689 --> 01:18:15,658
IT'S A LIFE AND DEATH SITUATION,

2263
01:18:15,658 --> 01:18:19,695
BECAUSE IF YOU HAVE ALL OF THE

2264
01:18:19,695 --> 01:18:21,430
DIFFERENT ILLNESS GOING ON, NOW

2265
01:18:21,430 --> 01:18:25,368
YOU KNOW WHAT TO LOOK FOR.

2266
01:18:25,368 --> 01:18:27,770
NOW THERE'S MEDICATION THAT'S

2267
01:18:27,770 --> 01:18:32,174
AVAILABLE.

2268
01:18:32,174 --> 01:18:33,409
THAT YOU COULD TAKE AND POSSIBLY

2269
01:18:33,409 --> 01:18:34,477
SLOW DOWN THE DISEASE.

2270
01:18:34,477 --> 01:18:36,112
SO IF YOU DON'T KNOW, THEN YOU

2271
01:18:36,112 --> 01:18:43,652
DON'T KNOW WHAT TO DO.

2272
01:18:43,652 --> 01:18:45,621
SO ADVICE, ONE, JOIN A STUDY,

2273
01:18:45,621 --> 01:18:46,522
TWO, THINK ABOUT WHAT YOU CAN

2274
01:18:46,522 --> 01:18:48,024
GET AND HOW YOU MIGHT USE IT IN

2275
01:18:48,024 --> 01:18:48,457
YOUR OWN HEALTHCARE.

2276
01:18:48,457 --> 01:18:50,426
I THINK THAT'S VERY GOOD ADVICE.

2277
01:18:50,426 --> 01:18:51,861
WELL, THANK YOU SO MUCH,

2278
01:18:51,861 --> 01:18:52,328
MS. COLEMAN.

2279
01:18:52,328 --> 01:18:54,163
WE REALLY APPRECIATE YOU SHARING

2280
01:18:54,163 --> 01:18:56,032
YOUR STORY WITH US.

2281
01:18:56,032 --> 01:18:57,666
I'M GLAD THAT WE COULD ALL LEARN

2282
01:18:57,666 --> 01:18:59,535
FROM YOUR EXPERIENCE AND I THINK

2283
01:18:59,535 --> 01:19:02,371
YOU GAVE EVERYBODY HERE AND

2284
01:19:02,371 --> 01:19:03,572
EVERYBODY LISTENING ONLINE A LOT

2285
01:19:03,572 --> 01:19:05,541
TO THINK ABOUT, SO THANK YOU.

2286
01:19:05,541 --> 01:19:05,808
[APPLAUSE]

2287
01:19:05,808 --> 01:19:16,052
>> THANK YOU.

2288
01:19:22,124 --> 01:19:23,692
SO I THINK NOW WE'LL OPEN IT UP

2289
01:19:23,692 --> 01:19:24,360
FOR SOME Q & A.

2290
01:19:24,360 --> 01:19:25,461
IF YOU HAVE ANY QUESTIONS,

2291
01:19:25,461 --> 01:19:27,029
PLEASE POST THEM ONLINE, AND IF

2292
01:19:27,029 --> 01:19:29,098
ANYBODY HAS ANY QUESTIONS.

2293
01:19:29,098 --> 01:19:32,334
>> ANYBODY ROOM, WE'LL DO
THE

2294
01:19:32,334 --> 01:19:32,601
HANDHELD.

2295
01:19:32,601 --> 01:19:34,970
>> SO WE CAN START MAYBE
-- SO I

2296
01:19:34,970 --> 01:19:37,373
HAVE A COUPLE OF QUESTIONS.

2297
01:19:37,373 --> 01:19:39,041
ONE FOR MS. COLEMAN, AND THAT

2298
01:19:39,041 --> 01:19:43,412
IS, SO YOU FOUND OUT THAT YOUR

2299
01:19:43,412 --> 01:19:46,549
MOM DOESN'T HAVE THIS TTR

2300
01:19:46,549 --> 01:19:47,750
VARIANT, IF I UNDERSTOOD

2301
01:19:47,750 --> 01:19:49,852
CORRECTLY.

2302
01:19:49,852 --> 01:19:51,287
NOW, HOW ABOUT YOUR DAD?

2303
01:19:51,287 --> 01:19:53,022
DID HE HAVE ANY SYMPTOMS THAT

2304
01:19:53,022 --> 01:19:55,124
WOULD GO ALONG WITH THE IDEA

2305
01:19:55,124 --> 01:19:57,927
THAT MAYBE YOU COULD HAVE GOTTEN

2306
01:19:57,927 --> 01:19:58,828
THE GENE FROM HIM?

2307
01:19:58,828 --> 01:20:01,897
>> WELL, UNFORTUNATELY, MY

2308
01:20:01,897 --> 01:20:04,166
FATHER PASSED AWAY WHEN I WAS

2309
01:20:04,166 --> 01:20:05,267
VERY YOUNG.

2310
01:20:05,267 --> 01:20:06,936
HE WAS LIKE IN HIS 40s.

2311
01:20:06,936 --> 01:20:08,237
AND AT THAT TIME, FROM WHAT I

2312
01:20:08,237 --> 01:20:13,709
CAN REMEMBER, HE HAD NO SYMPT 

2313
01:20:13,709 --> 01:20:13,976
SYMPTOMS.

2314
01:20:13,976 --> 01:20:16,112
ALL OF HIS SISTERS ARE NOW

2315
01:20:16,112 --> 01:20:19,548
DECEASED, AND HIS BROTHER, SO

2316
01:20:19,548 --> 01:20:23,652
ONE THING THAT I KNOW THAT WAS

2317
01:20:23,652 --> 01:20:25,054
VERY PROMINENT IN HIS FAMILY WAS

2318
01:20:25,054 --> 01:20:25,788
DIABETES.

2319
01:20:25,788 --> 01:20:32,294
AND I THINK MY AUNT HAD THE

2320
01:20:32,294 --> 01:20:33,395
HODGKIN'S DISEASE, WHAT YOU CALL

2321
01:20:33,395 --> 01:20:36,098
THAT?

2322
01:20:36,098 --> 01:20:36,999
PARKINSON, THANK YOU.

2323
01:20:36,999 --> 01:20:37,967
PARKINSON.

2324
01:20:37,967 --> 01:20:43,439
ONE OF MY AUNTS HAD THAT.

2325
01:20:43,439 --> 01:20:44,340
BUT OTHER THAN THAT, I DON'T

2326
01:20:44,340 --> 01:20:45,641
KNOW ANYTHING ELSE ABOUT MY

2327
01:20:45,641 --> 01:20:47,843
FATHER'S SIDE OF THE FAMILY.

2328
01:20:47,843 --> 01:20:49,445
>> OKAY.

2329
01:20:49,445 --> 01:20:51,647
SO THAT'S STILL UP IN THE AIR.

2330
01:20:51,647 --> 01:20:53,516
OKAY.

2331
01:20:53,516 --> 01:20:56,218
SO NOW -- OKAY.

2332
01:20:56,218 --> 01:20:58,120
SO I'M JUST READING THESE AS

2333
01:20:58,120 --> 01:21:02,158
THEY COME IN OFF THE WIRE, SO TO

2334
01:21:02,158 --> 01:21:03,893
SPEAK.

2335
01:21:03,893 --> 01:21:06,462
SO HOW WOULD YOU ADDRESS HEALTH

2336
01:21:06,462 --> 01:21:07,396
INSURANCE THAT MAY REFUSE TO

2337
01:21:07,396 --> 01:21:09,932
SIGN YOU UP IF YOU HAVE THE

2338
01:21:09,932 --> 01:21:15,070
POTENTIAL FOR A DISEASE THAT IS

2339
01:21:15,070 --> 01:21:15,504
EXPENSIVE TO TREAT?

2340
01:21:15,504 --> 01:21:16,839
I DON'T KNOW IF THAT'S FOR

2341
01:21:16,839 --> 01:21:17,139
MS. COLEMAN.

2342
01:21:17,139 --> 01:21:19,909
I THINK THAT MIGHT BE MORE

2343
01:21:19,909 --> 01:21:20,109
FOR --

2344
01:21:20,109 --> 01:21:22,077
>> THIS SOUNDS LIKE A
GENETIC

2345
01:21:22,077 --> 01:21:22,845
COUNSELING QUESTION.

2346
01:21:22,845 --> 01:21:24,847
SO THERE WAS ACTUALLY A LAW

2347
01:21:24,847 --> 01:21:27,149
PASSED BACK IN 2008 CALLED THE

2348
01:21:27,149 --> 01:21:28,884
GENETIC INFORMATION

2349
01:21:28,884 --> 01:21:30,085
NON-DISCRIMINATION ACT.

2350
01:21:30,085 --> 01:21:33,589
AND IT DOES PROTECT AGAINST

2351
01:21:33,589 --> 01:21:35,024
DISCRIMINATION WHEN IT COMES TO

2352
01:21:35,024 --> 01:21:36,325
HEALTH INSURANCE AND EMPLOYMENT.

2353
01:21:36,325 --> 01:21:39,828
THERE ARE SOME IMPORTANT CAVEATS

2354
01:21:39,828 --> 01:21:40,930
THERE, DEPENDS ON EMPLOYER SIZE

2355
01:21:40,930 --> 01:21:44,300
AND IF YOU'RE IN THE MILITARY.

2356
01:21:44,300 --> 01:21:49,438
BUT BUY A BY AND LARGE, IT PROTS

2357
01:21:49,438 --> 01:21:50,973
PEOPLE FROM BEING DISCRIMINATED

2358
01:21:50,973 --> 01:21:53,209
AGAINST BASED ON YOUR GENETICS.

2359
01:21:53,209 --> 01:21:54,476
SO THEY HAVE THOSE PROTECTIONS

2360
01:21:54,476 --> 01:21:57,446
IN PLACE SO THAT PEOPLE CAN GET

2361
01:21:57,446 --> 01:21:59,315
THE GENETIC TESTING OR SIGN UP

2362
01:21:59,315 --> 01:22:00,616
FOR SOME OF THESE GENETIC

2363
01:22:00,616 --> 01:22:05,421
RESEARCH STU DID Y D STUDIES ANN

2364
01:22:05,421 --> 01:22:06,322
VALUABLE INFORMATION THAT CAN BE

2365
01:22:06,322 --> 01:22:08,057
USED TO PROTECT YOUR HEALTH

2366
01:22:08,057 --> 01:22:09,792
WHICH WOULD HOPEFULLY ALSO BE

2367
01:22:09,792 --> 01:22:11,126
THE HEALTH INSURANCE COMPANIES'

2368
01:22:11,126 --> 01:22:11,327
GOAL.

2369
01:22:11,327 --> 01:22:11,994
>> OKAY.

2370
01:22:11,994 --> 01:22:13,963
SO ANOTHER QUESTION THAT OCCURS

2371
01:22:13,963 --> 01:22:17,700
TO ME IS GIVEN THE FREQUENCY OF

2372
01:22:17,700 --> 01:22:20,536
THESE VARIANTS AND THE TTR GENE

2373
01:22:20,536 --> 01:22:22,404
IN THE AFRICAN AMERICAN

2374
01:22:22,404 --> 01:22:23,906
POPULATION, HAS ANYONE LOOKED AT

2375
01:22:23,906 --> 01:22:27,009
THE POPULATIONS IN ESPECIALLY

2376
01:22:27,009 --> 01:22:28,177
THE WESTERN PART OF AFRICA WITH

2377
01:22:28,177 --> 01:22:32,014
REGARD TO THE FREQUENCY OF TTR

2378
01:22:32,014 --> 01:22:32,881
AMYLOIDOSIS?

2379
01:22:32,881 --> 01:22:34,650
BECAUSE YOU WOULD THINK THAT

2380
01:22:34,650 --> 01:22:35,951
PERHAPS IT WOULD BE COMMON IN

2381
01:22:35,951 --> 01:22:38,921
THAT PART OF THE WORLD.

2382
01:22:38,921 --> 01:22:40,889
>> HI, EVERYONE.

2383
01:22:40,889 --> 01:22:43,292
I'M THE DIRECTOR OF THE REVERSE

2384
01:22:43,292 --> 01:22:44,059
PHENOTYPING CORE.

2385
01:22:44,059 --> 01:22:47,062
THERE HAVE BEEN SOME STUDIES, SO

2386
01:22:47,062 --> 01:22:49,565
THERE ARE SOME COUNTRIES IN

2387
01:22:49,565 --> 01:22:51,066
WESTERN CENTRAL AFRICA THAT MAY

2388
01:22:51,066 --> 01:22:54,670
BE AS HIGH AS 8 OR 9% IN THAT

2389
01:22:54,670 --> 01:22:56,438
POPULATION.

2390
01:22:56,438 --> 01:22:57,740
THE ONE ISSUE THERE IS THAT THE

2391
01:22:57,740 --> 01:23:00,276
LIFE EXPECTANCY IS NOT OFTEN

2392
01:23:00,276 --> 01:23:01,777
NEARLY AS LONG AND SO MANY

2393
01:23:01,777 --> 01:23:02,911
PEOPLE DON'T DEVELOP THE

2394
01:23:02,911 --> 01:23:06,181
SYMPTOMS OF AMYLOIDOSIS.

2395
01:23:06,181 --> 01:23:08,517
>> THEN MAYBE A FOLLOW-UP

2396
01:23:08,517 --> 01:23:12,221
QUESTION ON THIS IS ARE THERE

2397
01:23:12,221 --> 01:23:13,489
ANY ENVIRONMENTAL FACTORS THAT

2398
01:23:13,489 --> 01:23:15,691
ANYONE KNOWS ABOUT, YOU KNOW,

2399
01:23:15,691 --> 01:23:17,893
THAT MIGHT IN SOME WAY INCREASE

2400
01:23:17,893 --> 01:23:21,930
THE LIKELIHOOD THAT YOU'D HAVE

2401
01:23:21,930 --> 01:23:23,365
SYMPTOMS FROM ONE OF THESE

2402
01:23:23,365 --> 01:23:24,166
GENETIC VARIANTS?

2403
01:23:24,166 --> 01:23:25,000
>> THAT'S A GREAT QUESTION
THAT

2404
01:23:25,000 --> 01:23:26,568
I DON'T KNOW THAT WE HAVE A GOOD

2405
01:23:26,568 --> 01:23:27,536
ANSWER TO.

2406
01:23:27,536 --> 01:23:29,505
THERE DOESN'T SEEM TO BE -- LIKE

2407
01:23:29,505 --> 01:23:32,041
WITH SOME OF THE OTHER

2408
01:23:32,041 --> 01:23:33,575
CONDITIONS LIKE SICKLE CELL

2409
01:23:33,575 --> 01:23:34,443
DISEASE, THERE DOESN'T SEEM TO

2410
01:23:34,443 --> 01:23:36,712
BE AN ENVIRONMENTAL REASON FOR

2411
01:23:36,712 --> 01:23:38,147
WHY WE HAVE SUCH A HIGH

2412
01:23:38,147 --> 01:23:41,216
INCIDENCE OF TTR VARIANTS.

2413
01:23:41,216 --> 01:23:43,319
AND IT DOESN'T SEEM TO BE

2414
01:23:43,319 --> 01:23:45,154
NECESSARILY A KNOWN TRIGGER FOR

2415
01:23:45,154 --> 01:23:47,523
WHAT CAUSES THE AMYLOID TO

2416
01:23:47,523 --> 01:23:49,291
DEPOSIT IN CERTAIN ORGANS.

2417
01:23:49,291 --> 01:23:50,192
THAT'S STILL WORK TO BE FIGURED

2418
01:23:50,192 --> 01:23:51,493
OUT.

2419
01:23:51,493 --> 01:23:55,130
THERE ARE LOTS OF OTHER TYPES OF

2420
01:23:55,130 --> 01:23:56,565
AMYLOID, LIKE LIGHT CHAIN AND

2421
01:23:56,565 --> 01:23:57,099
OTHER FORMS.

2422
01:23:57,099 --> 01:24:01,170
THIS IS JUST ONE PARTICULAR FO 

2423
01:24:01,170 --> 01:24:03,672
FORM.

2424
01:24:03,672 --> 01:24:05,574
AND DIABETES.

2425
01:24:05,574 --> 01:24:07,376
>> MAYBE YET ANOTHER
QUESTION,

2426
01:24:07,376 --> 01:24:10,346
SO DR. BIESECKER MENTIONED FIVE,

2427
01:24:10,346 --> 01:24:13,382
I THINK, MEDICATIONS THAT NOW

2428
01:24:13,382 --> 01:24:16,151
HAVE BEEN FDA-APPROVED FOR THE

2429
01:24:16,151 --> 01:24:18,554
TREATMENT OF TTR AMYLOID.

2430
01:24:18,554 --> 01:24:22,391
I ACTUALLY HADN'T BEEN FOLLOWING

2431
01:24:22,391 --> 01:24:23,692
THAT VERY CAREFULLY.

2432
01:24:23,692 --> 01:24:24,827
I'D SEEN IN THE NEW ENGLAND

2433
01:24:24,827 --> 01:24:26,428
JOURNAL THAT AT LEAST THERE WERE

2434
01:24:26,428 --> 01:24:27,863
ONE OR TWO OF THEM.

2435
01:24:27,863 --> 01:24:29,064
I DIDN'T KNOW THAT THERE WERE

2436
01:24:29,064 --> 01:24:29,832
FIVE OF THEM.

2437
01:24:29,832 --> 01:24:35,204
THAT'S PRETTY AMAZING.

2438
01:24:35,204 --> 01:24:37,306
AND THE AVAILABILITY AND COST OF

2439
01:24:37,306 --> 01:24:38,741
THOSE TREATMENTS, HOW DOES THAT

2440
01:24:38,741 --> 01:24:41,577
STACK UP NOW?

2441
01:24:41,577 --> 01:24:43,645
>> THEY'RE ALL AVAILABLE
AND

2442
01:24:43,645 --> 01:24:44,079
FDA-APPROVED.

2443
01:24:44,079 --> 01:24:46,915
THEY ARE VERY EXPENSIVE.

2444
01:24:46,915 --> 01:24:49,118
AS MANY OF THESE NEW PRECISION

2445
01:24:49,118 --> 01:24:50,085
HEALTH, PRECISION MEDICINE DRUGS

2446
01:24:50,085 --> 01:24:50,886
ARE.

2447
01:24:50,886 --> 01:24:52,821
AND SO THEY CAN COST QUITE A BIT

2448
01:24:52,821 --> 01:24:55,691
OF MONEY, ALTHOUGH INSURANCE

2449
01:24:55,691 --> 01:24:59,528
COMPANIES ARE PAYING FOR THEM.

2450
01:24:59,528 --> 01:25:03,565
>> SO I HAVE A COUPLE OF

2451
01:25:03,565 --> 01:25:04,566
QUESTIONS THAT I MAY HAVE

2452
01:25:04,566 --> 01:25:07,202
MISSED.

2453
01:25:07,202 --> 01:25:10,372
HOW MANY PATIENTS DO YOU THINK

2454
01:25:10,372 --> 01:25:13,208
THERE ARE WHO HAVE THIS

2455
01:25:13,208 --> 01:25:13,876
PARTICULAR VARIANT?

2456
01:25:13,876 --> 01:25:15,411
I MEAN, IT'S A RARE DISEASE.

2457
01:25:15,411 --> 01:25:17,179
DO WE HAVE SOME ESTIMATE?

2458
01:25:17,179 --> 01:25:19,148
ARE WE TALKING ABOUT DO YOU

2459
01:25:19,148 --> 01:25:20,783
THINK HUNDREDS, THOUSANDS,

2460
01:25:20,783 --> 01:25:22,551
HUNDREDS OF THOUSANDS?

2461
01:25:22,551 --> 01:25:25,487
AND THE SECOND QUESTION IS, WHEN

2462
01:25:25,487 --> 01:25:29,324
YOU GO TO ANOTHER PART OF THE

2463
01:25:29,324 --> 01:25:33,328
WORLD, SAY TO SUB-SAHARAN AFR 

2464
01:25:33,328 --> 01:25:35,130
AFRICA, BY WHAT CRITERIA WOULD

2465
01:25:35,130 --> 01:25:36,532
YOU DO A STUDY THERE?

2466
01:25:36,532 --> 01:25:39,835
WOULD YOU BE DOING IT SIMILAR TO

2467
01:25:39,835 --> 01:25:43,138
WHAT YOU'RE DOING AT THE NIH?

2468
01:25:43,138 --> 01:25:43,605
ALL-OF-US?

2469
01:25:43,605 --> 01:25:47,075
OR WOULD YOU BE RESORTING TO THE

2470
01:25:47,075 --> 01:25:52,214
TRADITIONAL METHOD OF

2471
01:25:52,214 --> 01:25:53,315
IDENTIFYING SOME SYMPTOM POLG

2472
01:25:53,315 --> 01:25:57,986
WHICHSYMPTOMATOLOGYWHICH WOULD E

2473
01:25:57,986 --> 01:25:58,787
CATCHMENT AREA?

2474
01:25:58,787 --> 01:25:59,655
HOW DO YOU GO ABOUT THAT KIND OF

2475
01:25:59,655 --> 01:26:01,857
A STUDY IN A SITUATION REMOVED

2476
01:26:01,857 --> 01:26:03,725
FROM AN ENVIRONMENT SUCH AS WE

2477
01:26:03,725 --> 01:26:06,028
HAVE HERE?

2478
01:26:06,028 --> 01:26:08,530
AND I GUESS THE LAST QUESTION I

2479
01:26:08,530 --> 01:26:11,366
HAVE IS, TO WHAT EXTENT IS THERE

2480
01:26:11,366 --> 01:26:14,136
INTERNATIONAL PARTICIPATION AND

2481
01:26:14,136 --> 01:26:16,805
COOPERATION?

2482
01:26:16,805 --> 01:26:18,273
WE HEAR OF MANY CENTERS AROUND

2483
01:26:18,273 --> 01:26:20,042
THE WORLD THAT ARE SEQUENCING

2484
01:26:20,042 --> 01:26:23,111
LARGE NUMBERS OF EXOMES AND SO

2485
01:26:23,111 --> 01:26:23,545
FORTH.

2486
01:26:23,545 --> 01:26:24,947
DO THEY TALK TO ONE ANOTHER, AND

2487
01:26:24,947 --> 01:26:28,684
TO WHAT EXTENT DO YOU SHARE

2488
01:26:28,684 --> 01:26:30,352
INFORMATION?

2489
01:26:30,352 --> 01:26:31,854
>> LES, I CAN ANSWER THE

2490
01:26:31,854 --> 01:26:32,588
INCIDENCE QUESTION.

2491
01:26:32,588 --> 01:26:33,088
>> GO AHEAD.

2492
01:26:33,088 --> 01:26:34,923
>> SO THERE'S -- THE
CURRENT

2493
01:26:34,923 --> 01:26:36,925
ESTIMATE IS BASED ON ONE OF

2494
01:26:36,925 --> 01:26:38,126
THE -- THE COMPANY THAT MOST

2495
01:26:38,126 --> 01:26:38,994
RECENTLY HAD THEIR DRUG

2496
01:26:38,994 --> 01:26:39,528
APPROVED.

2497
01:26:39,528 --> 01:26:42,764
IT'S ABOUT 3- TO 500,000 PEOPLE

2498
01:26:42,764 --> 01:26:45,467
ARE ESTIMATED TO HAVE

2499
01:26:45,467 --> 01:26:48,003
AMYLOIDOSIS, SYMPTOMATIC

2500
01:26:48,003 --> 01:26:49,538
AMYLOIDOSIS IN THE WORLD.

2501
01:26:49,538 --> 01:26:50,472
>> TTR?

2502
01:26:50,472 --> 01:26:52,040
>> TTR, YES.

2503
01:26:52,040 --> 01:26:52,241
SORRY.

2504
01:26:52,241 --> 01:26:53,709
>> HALF A MILLION PEOPLE.

2505
01:26:53,709 --> 01:26:54,209
THAT'S A LOT OF PEOPLE.

2506
01:26:54,209 --> 01:26:56,478
BUT IT'S A COMPLICATED QUESTION,

2507
01:26:56,478 --> 01:26:57,746
BECAUSE YOU KNOW, IT DEPENDS ON

2508
01:26:57,746 --> 01:27:01,483
WHAT YOU MEAN BY "HAVE THE

2509
01:27:01,483 --> 01:27:01,817
DISEASE."

2510
01:27:01,817 --> 01:27:05,420
RIGHT?

2511
01:27:05,420 --> 01:27:07,356
BECAUSE WE CAN VERY ACCURATELY

2512
01:27:07,356 --> 01:27:09,558
TELL YOU HOW MANY PEOPLE HARBOR

2513
01:27:09,558 --> 01:27:10,559
PATHOGENIC VARIANTS FOR THAT

2514
01:27:10,559 --> 01:27:11,560
DISEASE AND IT'S A SLIGHTLY

2515
01:27:11,560 --> 01:27:12,361
DIFFERENT QUESTION HOW MANY

2516
01:27:12,361 --> 01:27:13,862
PEOPLE ACTUALLY HAVE

2517
01:27:13,862 --> 01:27:16,365
MANIFESTATIONS OF THE DISEASE,

2518
01:27:16,365 --> 01:27:17,466
BECAUSE OF OF COURSE THAT

2519
01:27:17,466 --> 01:27:19,434
PENETRANCE AND EXPRESSIVITY

2520
01:27:19,434 --> 01:27:19,701
QUESTION.

2521
01:27:19,701 --> 01:27:23,839
AND YOU KNOW, WHEN YOU GET DOWN

2522
01:27:23,839 --> 01:27:24,506
TO INDIVIDUAL PATIENTS, IT CAN

2523
01:27:24,506 --> 01:27:27,442
BE A LITTLE TRICKY BECAUSE, OF

2524
01:27:27,442 --> 01:27:29,411
COURSE, AS YOU WELL KNOW, PLENTY

2525
01:27:29,411 --> 01:27:31,713
OF PEOPLE HAVE CARPAL TUNNEL

2526
01:27:31,713 --> 01:27:33,615
SYNDROME AND DON'T HAVE TTR

2527
01:27:33,615 --> 01:27:33,949
AMYLOIDOSIS.

2528
01:27:33,949 --> 01:27:35,250
JUST BECAUSE THE PERSON HAS THE

2529
01:27:35,250 --> 01:27:36,118
VARIANT DOESN'T ACTUALLY MEAN

2530
01:27:36,118 --> 01:27:38,754
THAT THE VARIANT CAUSED THEM TO

2531
01:27:38,754 --> 01:27:41,456
HAVE CARPAL TUNNEL SYNDROME.

2532
01:27:41,456 --> 01:27:44,626
SO THE CALCULATIONS ARE TRICKY.

2533
01:27:44,626 --> 01:27:45,928
BUT THERE'S A TON OF PEOPLE THAT

2534
01:27:45,928 --> 01:27:46,595
HAVE THIS.

2535
01:27:46,595 --> 01:27:49,665
AND I THINK THE MOST IMPORTANT

2536
01:27:49,665 --> 01:27:51,633
TAKE-HOME LESSON IS THAT THIS

2537
01:27:51,633 --> 01:27:56,471
DISORDER IS SEVERELY, WILDLY,

2538
01:27:56,471 --> 01:28:00,509
TERRIBLY UNDERDIAGNOSED.

2539
01:28:00,509 --> 01:28:01,710
THERE'S HUNDREDS AND HUNDREDS OF

2540
01:28:01,710 --> 01:28:03,145
THOUSANDS OF PEOPLE WHO HAVE

2541
01:28:03,145 --> 01:28:06,848
THIS CONDITION, AND ALMOST --

2542
01:28:06,848 --> 01:28:07,849
AND A VERY SMALL FRACTION OF

2543
01:28:07,849 --> 01:28:11,253
THEM HAVE THE DIAGNOSIS OF IT.

2544
01:28:11,253 --> 01:28:13,055
>> SO IS THIS ON THE ACMG?

2545
01:28:13,055 --> 01:28:14,656
>> IT IS NOW.

2546
01:28:14,656 --> 01:28:18,060
YES, IT'S ON THE NEW 81-GENE

2547
01:28:18,060 --> 01:28:18,727
LIST.

2548
01:28:18,727 --> 01:28:20,596
JOSH MENTIONED THAT FOR

2549
01:28:20,596 --> 01:28:24,399
ALL-OF-US, THEY WERE APPROVED TO

2550
01:28:24,399 --> 01:28:26,868
DO THE 2.0 LIST, WHICH IS 50

2551
01:28:26,868 --> 01:28:32,374
FLIEN GENES, A -- 59GEANS AND I.

2552
01:28:32,374 --> 01:28:33,976
SO WE'VE ACTUALLY BEEN TALKING

2553
01:28:33,976 --> 01:28:35,410
ABOUT APPROACHING THIS PROBLEM,

2554
01:28:35,410 --> 01:28:37,479
HOW WE CAN CREATIVELY APPROACH

2555
01:28:37,479 --> 01:28:39,114
THIS IN ALL-OF-US SINCE IT WON'T

2556
01:28:39,114 --> 01:28:41,450
BE IN THAT SET OF GENE VARIANTS

2557
01:28:41,450 --> 01:28:42,551
THAT THE ALL-OF-US PARTICIPANTS

2558
01:28:42,551 --> 01:28:43,518
WILL BE OPTING IN TO GETTING

2559
01:28:43,518 --> 01:28:45,487
BACK.

2560
01:28:45,487 --> 01:28:46,588
DO YOU WANT TO SAY ANYTHING MORE

2561
01:28:46,588 --> 01:28:47,222
ABOUT THAT?

2562
01:28:47,222 --> 01:28:50,092
>> I'LL JUST SAY THAT IT'S
AN

2563
01:28:50,092 --> 01:28:52,961
EVOLVING STORY WITH ALL-OF-US,

2564
01:28:52,961 --> 01:28:54,463
IN THAT WE HAVE OUR PARTICIPANTS

2565
01:28:54,463 --> 01:28:55,464
HOPEFULLY FOR DECADES AS

2566
01:28:55,464 --> 01:28:58,567
PARTNERS WITH US, AND IT'S ONE

2567
01:28:58,567 --> 01:28:59,835
OF THOSE THINGS THAT I THINK

2568
01:28:59,835 --> 01:29:01,403
IT'S A GREAT CANDIDATE TO EXPAND

2569
01:29:01,403 --> 01:29:03,238
TO AS WE LOOK AT OUR NEXT BATCH

2570
01:29:03,238 --> 01:29:10,145
OF THINGS WE DO WITH THE FDA.

2571
01:29:10,145 --> 01:29:11,647
>> I THINK ANOTHER PART OF
YOUR

2572
01:29:11,647 --> 01:29:12,781
QUESTION IS HOW WE MIGHT

2573
01:29:12,781 --> 01:29:14,216
CONSIDER DOING THIS IN SOME

2574
01:29:14,216 --> 01:29:15,651
PLACE LIKE SUB-SAHARAN AFRICA.

2575
01:29:15,651 --> 01:29:17,285
I THINK THERE ARE LOTS OF REALLY

2576
01:29:17,285 --> 01:29:20,155
IMPORTANT COLLABORATIONS THAT

2577
01:29:20,155 --> 01:29:22,557
THINKING OF CHARLES ROTIMI AND

2578
01:29:22,557 --> 01:29:24,660
THE H3 AFRICA CONSORTIUM WHO ARE

2579
01:29:24,660 --> 01:29:26,294
TRYING TO TAKE THIS

2580
01:29:26,294 --> 01:29:27,262
GENOTYPE-FIRST APPROACH TO

2581
01:29:27,262 --> 01:29:28,630
MEDICINE IN AFRICA AS WELL, SO I

2582
01:29:28,630 --> 01:29:31,033
THINK THERE ARE WAYS THAT IT CAN

2583
01:29:31,033 --> 01:29:31,433
BE DONE.

2584
01:29:31,433 --> 01:29:34,436
IT'S JUST A MATTER OF MOBILIZING

2585
01:29:34,436 --> 01:29:36,738
AND DEDICATING RESOURCES AND

2586
01:29:36,738 --> 01:29:39,908
SAYING IT'S ALSO A PRIORITY TO

2587
01:29:39,908 --> 01:29:41,977
IDENTIFY PEOPLE IN A GENE

2588
01:29:41,977 --> 01:29:44,079
TYPE-FIRST MANNER SO THEY HAVE

2589
01:29:44,079 --> 01:29:45,180
THE OPPORTUNITY TO HAVE ACCESS

2590
01:29:45,180 --> 01:29:47,349
TO THESE SAME TREATMENTS BEFORE

2591
01:29:47,349 --> 01:29:49,451
THEY END UP GETTING DIAGNOSED

2592
01:29:49,451 --> 01:29:50,652
WITH HEART FAILURE.

2593
01:29:50,652 --> 01:29:51,653
BECAUSE BY THE TIME SOMEONE

2594
01:29:51,653 --> 01:29:53,622
SHOWS UP TO A CLINIC WITH THOSE

2595
01:29:53,622 --> 01:29:55,691
TYPES OF SYMPTOMS, IT'S REALLY

2596
01:29:55,691 --> 01:29:57,392
HARD TO TREAT THEM AND MAKE A

2597
01:29:57,392 --> 01:30:00,562
DIFFERENCE IN TERMS OF LONGEVITY

2598
01:30:00,562 --> 01:30:07,569
AND LIFESPAN.

2599
01:30:07,569 --> 01:30:13,041
>> WHAT DO YOU SEE DOWN
THE LINE

2600
01:30:13,041 --> 01:30:14,342
FROM THE STANDPOINT OF THE

2601
01:30:14,342 --> 01:30:15,977
TECHNOLOGY OF EXOME SEQUENCING?

2602
01:30:15,977 --> 01:30:17,512
HAVE WE REACHED THE END OF THE

2603
01:30:17,512 --> 01:30:21,149
LINE?

2604
01:30:21,149 --> 01:30:22,718
OR CAN YOU VISUALIZE ENGINEERING

2605
01:30:22,718 --> 01:30:24,019
OR OTHER DEVELOPMENTS THAT ARE

2606
01:30:24,019 --> 01:30:27,289
GOING TO EVEN FURTHER AUTOMATE

2607
01:30:27,289 --> 01:30:31,693
AND ULTIMATELY, WHO KNOWS, IS IT

2608
01:30:31,693 --> 01:30:33,028
CONCEIVABLE THAT SOMEBODY WILL

2609
01:30:33,028 --> 01:30:35,530
HAVE A HOME KIT?

2610
01:30:35,530 --> 01:30:39,501
I MEAN, WHAT DO YOU SEE IN THIS

2611
01:30:39,501 --> 01:30:41,770
FUTURE COMING WITH ALL SORTS OF

2612
01:30:41,770 --> 01:30:44,973
EXCITING THINGS BEING POSSIBLE?

2613
01:30:44,973 --> 01:30:46,975
>> I THINK IT'S FAIR TO
SAY, WE

2614
01:30:46,975 --> 01:30:48,610
ARE APPROACHING THE POINT WHERE

2615
01:30:48,610 --> 01:30:51,346
THE SEQUENCING PROBLEM, THE

2616
01:30:51,346 --> 01:30:53,648
SEQUENCING ITSELF, IS A SOLVED

2617
01:30:53,648 --> 01:30:56,384
PROBLEM.

2618
01:30:56,384 --> 01:30:57,819
THE COST OF IT IS GETTING SMALL

2619
01:30:57,819 --> 01:31:01,757
ENOUGH THAT THE COST OF

2620
01:31:01,757 --> 01:31:02,791
GENERATING THE DATA IS REALLY

2621
01:31:02,791 --> 01:31:04,960
NOT A BARRIER TO MUCH OF

2622
01:31:04,960 --> 01:31:08,797
ANYTHING.

2623
01:31:08,797 --> 01:31:10,565
NOW, GENERATING THE DATA,

2624
01:31:10,565 --> 01:31:11,633
THOUGH, IS ONLY PART OF THE

2625
01:31:11,633 --> 01:31:11,900
STORY.

2626
01:31:11,900 --> 01:31:15,937
SOMEBODY HAS TO CLASSIFY THE

2627
01:31:15,937 --> 01:31:17,672
PATHOGENICITY OF ALL THESE

2628
01:31:17,672 --> 01:31:20,008
VARIANTS, EACH ONE OF US HAS

2629
01:31:20,008 --> 01:31:20,275
3 MILLION.

2630
01:31:20,275 --> 01:31:21,676
JOSH HAS A BILLION.

2631
01:31:21,676 --> 01:31:23,745
IN HIS STUDY.

2632
01:31:23,745 --> 01:31:25,380
AND IT'S GOING TO TAKE SOME WORK

2633
01:31:25,380 --> 01:31:28,683
TO CLASSIFY AND UNDERSTAND WHAT

2634
01:31:28,683 --> 01:31:31,753
THOSE MEAN.

2635
01:31:31,753 --> 01:31:33,188
MOST OF THEM PROBABLY MEAN

2636
01:31:33,188 --> 01:31:33,822
NOTHING.

2637
01:31:33,822 --> 01:31:36,491
BUT SOME OF THEM MEAN A LOT.

2638
01:31:36,491 --> 01:31:38,660
SO THE BIG CHALLENGE NOW IS NOT

2639
01:31:38,660 --> 01:31:40,428
IN GENERATING THE DATA OR WHAT

2640
01:31:40,428 --> 01:31:41,396
THE DATA COST.

2641
01:31:41,396 --> 01:31:44,599
THE BIG CHALLENGE NOW IS

2642
01:31:44,599 --> 01:31:46,001
DEVELOPING MORE EFFICIENT WAYS

2643
01:31:46,001 --> 01:31:48,537
TO UNDERSTAND THE RELATIONSHIP

2644
01:31:48,537 --> 01:31:51,306
OF THE VARIANTS TO HEALTH AND

2645
01:31:51,306 --> 01:31:52,741
DISEASE, AND THAT'S WHERE THE

2646
01:31:52,741 --> 01:31:54,042
BIG ADVANCEMENTS HAVE TO COME,

2647
01:31:54,042 --> 01:31:56,578
BECAUSE THAT IS CURRENTLY LOW

2648
01:31:56,578 --> 01:32:04,619
THROUGHPUT AND EXPENSIVE.

2649
01:32:04,619 --> 01:32:08,323
>> HOW DO YOU VISUALIZE
ONE WHO

2650
01:32:08,323 --> 01:32:10,959
GOES ABOUT ADDRESS BEING THAT --

2651
01:32:10,959 --> 01:32:13,528
>> HOW WILL WE INCREASE
THE

2652
01:32:13,528 --> 01:32:14,830
THROUGHPUT AND LOWER THE COST OF

2653
01:32:14,830 --> 01:32:17,332
VARIANT CLASSIFICATION.

2654
01:32:17,332 --> 01:32:19,434
WELL, OF COURSE ONCE WE KNOW THE

2655
01:32:19,434 --> 01:32:21,837
RELATIONSHIP OF A VARIANT TO

2656
01:32:21,837 --> 01:32:22,838
HEALTH, THAT'S MOSTLY THEN A

2657
01:32:22,838 --> 01:32:23,605
SOLVED PROBLEM.

2658
01:32:23,605 --> 01:32:24,573
THAT'S IN THE BANK AND YOU CAN

2659
01:32:24,573 --> 01:32:30,178
JUST USE IT.

2660
01:32:30,178 --> 01:32:35,884
THE RELATIONSHIP OF V142I TO TTR

2661
01:32:35,884 --> 01:32:36,785
AMYLOIDOSIS, SOLVED PROBLEM.

2662
01:32:36,785 --> 01:32:38,320
NOW IT DOESN'T TAKE ANYBODY MUCH

2663
01:32:38,320 --> 01:32:39,754
OF ANY TIME TO WRITE A REPORT

2664
01:32:39,754 --> 01:32:43,458
THAT SAYS THAT.

2665
01:32:43,458 --> 01:32:44,593
SO YOU ACCUMULATE EXPERIENCE AND

2666
01:32:44,593 --> 01:32:47,562
YOU SOLVE THE PROBLEMS, AND THEN

2667
01:32:47,562 --> 01:32:49,197
YOU BUILD UP A BANK OF ANSWERS

2668
01:32:49,197 --> 01:32:52,934
THAT YOU CAN RE-USE AND THE

2669
01:32:52,934 --> 01:32:53,501
MARGINAL COST OF THAT IS

2670
01:32:53,501 --> 01:32:54,236
NOTHING.

2671
01:32:54,236 --> 01:32:55,670
BUT THERE ARE ALWAYS GOING TO BE

2672
01:32:55,670 --> 01:32:57,772
MORE RARE VARIANTS, AND IT'S

2673
01:32:57,772 --> 01:32:58,640
GOING TO TAKE SOMEONE TIME TO

2674
01:32:58,640 --> 01:32:59,307
FIGURE THAT OUT.

2675
01:32:59,307 --> 01:33:01,076
YOU KNOW, EVERYONE THROWS AROUND

2676
01:33:01,076 --> 01:33:03,612
MACHINE LEARNING AND A.I.

2677
01:33:03,612 --> 01:33:06,014
I'M SURE THAT WILL HELP US, AND

2678
01:33:06,014 --> 01:33:07,883
I'M EQUALLY SURE IT'S NOT THE

2679
01:33:07,883 --> 01:33:08,416
WHOLE ANSWER.

2680
01:33:08,416 --> 01:33:11,286
BECAUSE IT TAKES HUMAN BEINGS TO

2681
01:33:11,286 --> 01:33:13,355
ACTUALLY THINK ABOUT THEM AND

2682
01:33:13,355 --> 01:33:18,093
MAKE SENSE OUT OF IT SO THAT A

2683
01:33:18,093 --> 01:33:19,861
LABORATORY GENETICIST CAN TURN A

2684
01:33:19,861 --> 01:33:21,496
RESULT COMING OUT OF A MACHINE

2685
01:33:21,496 --> 01:33:23,365
INTO A TEST RESULT THAT A DOCTOR

2686
01:33:23,365 --> 01:33:27,535
CAN ACTUALLY USE.

2687
01:33:27,535 --> 01:33:29,804
>> SO LES, I KNOW THAT
YOU'VE

2688
01:33:29,804 --> 01:33:32,340
DONE SOME STUDIES THROUGH

2689
01:33:32,340 --> 01:33:34,442
CLINSEQ LOOKING AT ALTERNATIVE

2690
01:33:34,442 --> 01:33:38,480
WAYS OF RETURNING INFORMATION TO

2691
01:33:38,480 --> 01:33:42,617
SUBJECT IN TERMS OF WHETHER OR

2692
01:33:42,617 --> 01:33:43,985
NOT A GENETIC COUNSELOR IN

2693
01:33:43,985 --> 01:33:46,187
PERSON RETURNS THE RESULTS OR

2694
01:33:46,187 --> 01:33:47,489
WHETHER THAT MIGHT BE DONE

2695
01:33:47,489 --> 01:33:48,857
THROUGH A COMPUTER OR SOMETHING

2696
01:33:48,857 --> 01:33:49,491
LIKE THAT.

2697
01:33:49,491 --> 01:33:51,593
DO YOU WANT TO SAY A FEW WORDS

2698
01:33:51,593 --> 01:33:52,227
ABOUT THAT?

2699
01:33:52,227 --> 01:33:54,029
THAT SEEMS TO BE ALSO RELATED TO

2700
01:33:54,029 --> 01:33:57,198
THIS ISSUE OF SORT OF

2701
01:33:57,198 --> 01:34:00,802
DISSEMINATION OF THE TECHNOLOGY.

2702
01:34:00,802 --> 01:34:02,971
>> TALK ABOUT LOW
THROUGHPUT.

2703
01:34:02,971 --> 01:34:04,205
SO THAT'S ONE OF OUR CHALLENGES,

2704
01:34:04,205 --> 01:34:06,074
IS FIGURING OUT HOW TO GET THESE

2705
01:34:06,074 --> 01:34:07,943
RESULTS BACK TO PATIENTS, AND

2706
01:34:07,943 --> 01:34:11,346
THE OLD MODEL OF GENETICS IS FOR

2707
01:34:11,346 --> 01:34:13,448
A HUMAN BEING, A GENETIC

2708
01:34:13,448 --> 01:34:15,183
COUNSELOR MOST OFTEN, SITTING IN

2709
01:34:15,183 --> 01:34:18,954
A ROOM WITH A PATIENT FOR AN

2710
01:34:18,954 --> 01:34:21,790
HOUR, TALKING ABOUT A VARIANT.

2711
01:34:21,790 --> 01:34:24,526
A SINGLE VARIANT.

2712
01:34:24,526 --> 01:34:26,528
AND THAT IS TOTALLY NOT

2713
01:34:26,528 --> 01:34:31,333
SUSTAINABLE, NOT SCALABLE, AND

2714
01:34:31,333 --> 01:34:32,968
IS PROBABLY THE BIGGEST BARRIER

2715
01:34:32,968 --> 01:34:35,870
TO PRECISION HEALTHCARE, GENOMIC

2716
01:34:35,870 --> 01:34:37,272
HEALTHCARE THAT THERE IS.

2717
01:34:37,272 --> 01:34:40,008
SO IT HAS TO CHANGE.

2718
01:34:40,008 --> 01:34:41,676
AND IT IS CERTAIN THAT SOME

2719
01:34:41,676 --> 01:34:45,080
PEOPLE DO NEED A HEALTH

2720
01:34:45,080 --> 01:34:46,514
PROFESSIONAL TO TALK TO THEM IN

2721
01:34:46,514 --> 01:34:50,118
PERSON TO UNDERSTAND AND MAKE

2722
01:34:50,118 --> 01:34:52,120
DECISIONS THAT SHOULD ALWAYS

2723
01:34:52,120 --> 01:34:53,989
HAPPEN, BUT IT SHOULDN'T HAVE TO

2724
01:34:53,989 --> 01:34:54,756
ALWAYS HAPPEN.

2725
01:34:54,756 --> 01:34:57,492
SO NEGATIVE RESULTS, WE HAVE

2726
01:34:57,492 --> 01:35:00,228
FOUND WE CAN PROVIDE THOSE TO

2727
01:35:00,228 --> 01:35:01,663
PATIENT THROUGH A COMPUTER

2728
01:35:01,663 --> 01:35:03,631
INTERFACE, AND THE PATIENTS

2729
01:35:03,631 --> 01:35:07,369
UNDERSTAND AS MUCH AS THEY DO

2730
01:35:07,369 --> 01:35:09,170
WHEN THEY COME AND TALK TO US.

2731
01:35:09,170 --> 01:35:10,472
THEY'RE AS SATISFIED AS WHEN

2732
01:35:10,472 --> 01:35:12,007
THEY COME AND TALK TO US, AND

2733
01:35:12,007 --> 01:35:13,108
THEY DO NOT FEEL MUCH OF A NEED

2734
01:35:13,108 --> 01:35:14,676
TO COME AND TALK TO US.

2735
01:35:14,676 --> 01:35:18,380
SO WE'VE SOLVED THAT PROBLEM,

2736
01:35:18,380 --> 01:35:21,116
AND IT'S A VERY INEXPENSIVE MODE

2737
01:35:21,116 --> 01:35:22,884
TO GET OUT NEGATIVE RESULTS,

2738
01:35:22,884 --> 01:35:24,452
WHICH MANY TEST RESULTS ARE.

2739
01:35:24,452 --> 01:35:26,187
POSITIVE RESULTS, THE PANDEMIC

2740
01:35:26,187 --> 01:35:28,056
FORCED US TO DO THAT WITHOUT

2741
01:35:28,056 --> 01:35:29,958
SEEING PATIENTS.

2742
01:35:29,958 --> 01:35:31,359
AND WE JUST HAD TO DO IT.

2743
01:35:31,359 --> 01:35:32,594
AND MANY OF OUR CLINICAL

2744
01:35:32,594 --> 01:35:34,329
COLLEAGUES DID THE SAME THING.

2745
01:35:34,329 --> 01:35:36,965
AND IN FACT, IT WORKS.

2746
01:35:36,965 --> 01:35:40,035
SO SOME OF US IN GENETICS, MANY

2747
01:35:40,035 --> 01:35:44,773
OF US PROBABLY IN HEALTHCARE, IN

2748
01:35:44,773 --> 01:35:46,408
GENERAL HARBOR UNREASONABLE

2749
01:35:46,408 --> 01:35:47,409
BELIEFS ABOUT HOW MUCH PEOPLE

2750
01:35:47,409 --> 01:35:49,811
LIKE TO COME AND BE WITH US IN

2751
01:35:49,811 --> 01:35:51,679
THE HOSPITAL, IN THE CLINIC.

2752
01:35:51,679 --> 01:35:53,114
I THINK THEY MOSTLY LIKE TO BE

2753
01:35:53,114 --> 01:35:54,549
IN THEIR HOMES, TO BE HONEST

2754
01:35:54,549 --> 01:35:57,252
WITH YOU.

2755
01:35:57,252 --> 01:35:59,487
SO THE MORE THAT WE CAN GIVE

2756
01:35:59,487 --> 01:36:02,323
PEOPLE OPTIONS TO RECEIVE

2757
01:36:02,323 --> 01:36:03,425
RESULTS EITHER THROUGH A

2758
01:36:03,425 --> 01:36:05,960
COMPUTER OR THROUGH A PHONE CALL

2759
01:36:05,960 --> 01:36:08,396
OR THROUGH A TELEHEALTH VISIT

2760
01:36:08,396 --> 01:36:10,331
WITH AN OPTION TO COME AND SEE

2761
01:36:10,331 --> 01:36:12,100
US AND SIT WITH US IF THEY FEEL

2762
01:36:12,100 --> 01:36:14,636
THAT NEED AND IF THAT SERVES

2763
01:36:14,636 --> 01:36:16,638
THEIR INTERESTS, THAT'S WHERE WE

2764
01:36:16,638 --> 01:36:19,040
HAVE TO MOVE TO.

2765
01:36:19,040 --> 01:36:20,775
>> JUST TO ADD ON TO THAT
A

2766
01:36:20,775 --> 01:36:22,944
LITTLE BIT, WE'VE BEEN RETURNING

2767
01:36:22,944 --> 01:36:24,612
TO THIS NOW FOR ABOUT A YEAR.

2768
01:36:24,612 --> 01:36:26,481
WE OFFER TO ABOUT 5,000 PEOPLE

2769
01:36:26,481 --> 01:36:28,249
EVERY WEEK NOW.

2770
01:36:28,249 --> 01:36:30,485
ABOUT HALF OF THAT ASKS FOR THE

2771
01:36:30,485 --> 01:36:32,987
REPORT, AND IT'S COMPLETELY

2772
01:36:32,987 --> 01:36:34,522
VIRTUAL.

2773
01:36:34,522 --> 01:36:38,793
SO WE OFFER THE -- IF IT'S THE

2774
01:36:38,793 --> 01:36:40,462
UNINFORMATIVE REPORT, THEY CAN

2775
01:36:40,462 --> 01:36:43,298
CALL A GENETIC COUNSELOR IF THEY

2776
01:36:43,298 --> 01:36:43,498
WANT.

2777
01:36:43,498 --> 01:36:44,732
THEY CAN CALL A GENETIC

2778
01:36:44,732 --> 01:36:46,301
COUNSELOR AT ANY POINT, WE'LL

2779
01:36:46,301 --> 01:36:47,836
SCHEDULE A SESSION, THEY CAN ASK

2780
01:36:47,836 --> 01:36:49,370
ABOUT THEIR GENETIC ANCESTRY,

2781
01:36:49,370 --> 01:36:50,905
THEY CAN ASK BEFORE, HEY, WHAT

2782
01:36:50,905 --> 01:36:52,807
DOES IT MEAN, SHOULD I SAY YES

2783
01:36:52,807 --> 01:36:54,342
OR NO, TALK ME THROUGH WHAT THAT

2784
01:36:54,342 --> 01:36:54,876
MEANS.

2785
01:36:54,876 --> 01:36:56,111
BUT ESSENTIALLY IT'S WORKING.

2786
01:36:56,111 --> 01:36:59,080
I MEAN, WE HAVE INCREDIBLY HIGH

2787
01:36:59,080 --> 01:37:01,816
UNDERSTANDING RATES, SORT OF --

2788
01:37:01,816 --> 01:37:03,818
THESE STANDARD SURVEYS LIKE

2789
01:37:03,818 --> 01:37:04,819
CUSTOMER SATISFACTION, NET

2790
01:37:04,819 --> 01:37:06,121
PROMOTER SCORE, THAT KIND OF

2791
01:37:06,121 --> 01:37:08,223
STUFF, AS WELL AS THE NORMAL

2792
01:37:08,223 --> 01:37:10,625
COMPREHENSION KIND OF SCORES,

2793
01:37:10,625 --> 01:37:12,393
AND TALKING THROUGH THEIR

2794
01:37:12,393 --> 01:37:14,462
PATHOGENIC RESULTS.

2795
01:37:14,462 --> 01:37:15,663
THAT'S 2200 OR SO PEOPLE THAT

2796
01:37:15,663 --> 01:37:19,501
HAVE RECEIVED NEW TO THEM

2797
01:37:19,501 --> 01:37:20,969
PATHOGENIC RESULTS ON THESE 59

2798
01:37:20,969 --> 01:37:23,171
GENES NOW THAT ARE ESSENTIALLY

2799
01:37:23,171 --> 01:37:24,239
LIFE-ALTERING THROUGH THIS, YOU

2800
01:37:24,239 --> 01:37:28,443
KNOW, VIRTUAL PROCESS.

2801
01:37:28,443 --> 01:37:32,380
AND, GOSH, 70, 80,000 PEOPLE

2802
01:37:32,380 --> 01:37:36,784
THAT HAVE POTENTIALLY ACTIONABLE

2803
01:37:36,784 --> 01:37:37,418
PHARMACOKINETIC RESULTS THEY'VE

2804
01:37:37,418 --> 01:37:37,685
RECEIVED.

2805
01:37:37,685 --> 01:37:39,287
SO IT SEEMS LIKE IT IS VERY

2806
01:37:39,287 --> 01:37:40,522
DOABLE IN THIS WORLD.

2807
01:37:40,522 --> 01:37:45,026
>> SO ONE OF THE BIGGEST
BRIDGES

2808
01:37:45,026 --> 01:37:48,730
WE ALWAYS GET INVOLVED IN IS THE

2809
01:37:48,730 --> 01:37:49,998
GAP BETWEEN BOTH THE SCIENCE ON

2810
01:37:49,998 --> 01:37:52,300
ONE SIDE, MEDICINE ON THE OTHER

2811
01:37:52,300 --> 01:37:53,168
SIDE, AND THE PUBLIC ON THE

2812
01:37:53,168 --> 01:37:55,236
OTHER SIDE.

2813
01:37:55,236 --> 01:37:56,771
AND THE BIGGEST STRUTS IN THOSE

2814
01:37:56,771 --> 01:38:00,542
BRIDGES ARE EDUCATION.

2815
01:38:00,542 --> 01:38:05,580
SO IS THERE SOME THINKING, IS

2816
01:38:05,580 --> 01:38:07,115
THERE SOME -- IS THE QUESTION

2817
01:38:07,115 --> 01:38:10,818
BEING ADDRESSED ABOUT HOW WE'RE

2818
01:38:10,818 --> 01:38:15,990
GOING TO INFORM YOUNG PEOPLE,

2819
01:38:15,990 --> 01:38:18,960
HIGH SCHOOL STUDENTS, COLLEGE

2820
01:38:18,960 --> 01:38:22,564
STUDENTS, PHYSICIANS, MEDICAL

2821
01:38:22,564 --> 01:38:25,533
STUDENTS, THE WHOLE 9 YARDS, TO

2822
01:38:25,533 --> 01:38:27,435
WHAT EXTENT ARE DEVELOPMENTS

2823
01:38:27,435 --> 01:38:29,804
LIKE THE KIND THAT YOU ARE

2824
01:38:29,804 --> 01:38:32,674
SPEAKING ABOUT, GOING TO BE

2825
01:38:32,674 --> 01:38:34,876
INTRODUCED INTO THEIR EVEN WAY

2826
01:38:34,876 --> 01:38:36,411
OF THINKING, NOTNESS SAIR LEGAL

2827
01:38:36,411 --> 01:38:37,946
UNDERSTANDING ALL THE NUANCES

2828
01:38:37,946 --> 01:38:41,916
THAT HAVE BEEN PRESENTED?

2829
01:38:41,916 --> 01:38:43,851
>> IT'S PROBABLY MORE FOR
YOU

2830
01:38:43,851 --> 01:38:44,919
THAN ME.

2831
01:38:44,919 --> 01:38:46,621
I MAIN PRINCIPLE IS WE JUST HAVE

2832
01:38:46,621 --> 01:38:47,956
TO REDUCE THE FRICTIONS IN THE

2833
01:38:47,956 --> 01:38:48,389
SYSTEM.

2834
01:38:48,389 --> 01:38:52,260
THERE ARE SO MANY FRICTIONS AND

2835
01:38:52,260 --> 01:38:53,595
BARRIERS BETWEEN THIS

2836
01:38:53,595 --> 01:38:57,065
INFORMATION THAT WE CAN HAVE OR

2837
01:38:57,065 --> 01:38:59,067
CAN GENERATE AND PEOPLE ACTUALLY

2838
01:38:59,067 --> 01:39:01,603
GETTING IT AND USING IT, AND WE

2839
01:39:01,603 --> 01:39:06,307
HAVE TO DO ALL OF THE ABOVE,

2840
01:39:06,307 --> 01:39:08,109
INCLUDING OUR PATIENTS, HAVE TO

2841
01:39:08,109 --> 01:39:09,844
IN SOME WAYS BE THEIR OWN

2842
01:39:09,844 --> 01:39:10,178
ADVOCATES.

2843
01:39:10,178 --> 01:39:13,514
LAKLIKE YOU JUST SAID EARLIER,

2844
01:39:13,514 --> 01:39:14,482
ENCOURAGE PEOPLE TO SIGN UP FOR

2845
01:39:14,482 --> 01:39:16,384
THESE THINGS AND GET ENGAGED,

2846
01:39:16,384 --> 01:39:17,552
SIGN UP FOR THE THING AT THE

2847
01:39:17,552 --> 01:39:19,354
HEALTH FAIR THAT ALLOWS YOU TO

2848
01:39:19,354 --> 01:39:20,455
PARTICIPATE IN THESE KINDS OF

2849
01:39:20,455 --> 01:39:21,856
THINGS.

2850
01:39:21,856 --> 01:39:25,260
AND MANY OF OUR PATIENTS WHO

2851
01:39:25,260 --> 01:39:26,628
PARTICIPATE IN THESE STUDIES,

2852
01:39:26,628 --> 01:39:28,162
THEY'RE THE ONES WHO ARE

2853
01:39:28,162 --> 01:39:30,431
MOTIVATING THEIR CLINICIANS TO

2854
01:39:30,431 --> 01:39:32,734
ENGAGE WITH THIS PROCESS.

2855
01:39:32,734 --> 01:39:35,837
MORE THAN THE PHYSICIANS.

2856
01:39:35,837 --> 01:39:38,139
SO I THINK -- BUT I THINK YOU

2857
01:39:38,139 --> 01:39:39,340
PROBABLY HAVE A LOT TO SAY ABOUT

2858
01:39:39,340 --> 01:39:43,444
HOW EHRs CAN HELP DO THAT.

2859
01:39:43,444 --> 01:39:45,179
>> I THINK -- YOU KNOW,
BACK TO

2860
01:39:45,179 --> 01:39:47,649
THIS, THE MEDICAL EDUCATION PART

2861
01:39:47,649 --> 01:39:49,951
TOO, I THINK PROBABLY MEDICAL

2862
01:39:49,951 --> 01:39:52,654
EDUCATION HAS ALREADY SHIFTED

2863
01:39:52,654 --> 01:39:53,521
FROM TRYING TO TEACH YOU

2864
01:39:53,521 --> 01:39:56,124
EVERYTHING YOU NEED TO KNOW TO

2865
01:39:56,124 --> 01:39:58,293
HOW TO LEARN, AND THE

2866
01:39:58,293 --> 01:40:00,395
FOUNDATIONS OF WHAT THE PROCESS

2867
01:40:00,395 --> 01:40:01,296
SHOULD BE.

2868
01:40:01,296 --> 01:40:02,263
AND I THINK WE PROBABLY NEED TO

2869
01:40:02,263 --> 01:40:03,931
CONTINUE TO EVOLVE WHAT MEDICAL

2870
01:40:03,931 --> 01:40:07,435
EDUCATION SHOULD BE ABOUT, AND

2871
01:40:07,435 --> 01:40:11,639
HOW WE CREATE THE RIGHT KIND OF

2872
01:40:11,639 --> 01:40:13,608
TEAM-BASED NAVIGATION AND

2873
01:40:13,608 --> 01:40:16,544
THOUGHTFULNESS ABOUT

2874
01:40:16,544 --> 01:40:17,545
INFORMATION-FINDING AND

2875
01:40:17,545 --> 01:40:19,247
MANAGEMENT OF CARE, CONTINUE TO,

2876
01:40:19,247 --> 01:40:23,051
BUT YOU KNOW, FROM THE

2877
01:40:23,051 --> 01:40:24,385
IMPLEMENTATION SIDE, I DID ALL

2878
01:40:24,385 --> 01:40:28,589
THE WORK ON SOME OF THE

2879
01:40:28,589 --> 01:40:29,457
PHARMACOGENETIC PIECE ESPECIALLY

2880
01:40:29,457 --> 01:40:31,626
WHEN I WAS AT VANDERBILT, AND A

2881
01:40:31,626 --> 01:40:33,861
PHYSICIAN CAN'T PROCESS AND

2882
01:40:33,861 --> 01:40:38,466
ACCURATELY ACT ON, YOU KNOW, TWO

2883
01:40:38,466 --> 01:40:40,335
C19 "*2" AND THUS I SHOULD NOT

2884
01:40:40,335 --> 01:40:43,571
DO DRUG X AND I SHOULD DO DRUG

2885
01:40:43,571 --> 01:40:45,606
Y, VERSUS STAR 1, WHICH IS

2886
01:40:45,606 --> 01:40:46,708
NORMAL, STAR 17 WHICH IS GOING

2887
01:40:46,708 --> 01:40:50,378
TO WORK EVEN BETTER.

2888
01:40:50,378 --> 01:40:53,348
THAT'S NOT GOING TO BE PART OF

2889
01:40:53,348 --> 01:40:57,819
THEIR LEX COP.

2890
01:40:57,819 --> 01:40:58,219
 LEXICON.

2891
01:40:58,219 --> 01:40:59,520
WE HAVE A HARD ENOUGH TIME

2892
01:40:59,520 --> 01:41:01,155
GETTING THEM FOR RENAL DOSING

2893
01:41:01,155 --> 01:41:03,124
AND WE ALL UNDERSTAND RENAL

2894
01:41:03,124 --> 01:41:03,458
DOSING.

2895
01:41:03,458 --> 01:41:04,859
YOU HAVE TO HAVE THE COMPUTER

2896
01:41:04,859 --> 01:41:06,594
SYSTEM INTERCEPT THOSE ORDERS

2897
01:41:06,594 --> 01:41:09,097
AND AUTOMATICALLY DO WHAT'S

2898
01:41:09,097 --> 01:41:11,132
NECESSARY IN A VERY SEAM LES ONE

2899
01:41:11,132 --> 01:41:12,667
CLICK KIND OF WAY.

2900
01:41:12,667 --> 01:41:16,070
AND YOU DO SEE IF YOU MAKE IT

2901
01:41:16,070 --> 01:41:16,938
SIMPLE LAKE THAT, PEOPLE FOLLOW

2902
01:41:16,938 --> 01:41:17,438
IT.

2903
01:41:17,438 --> 01:41:18,873
IT'S REALLY INTERESTING, WE

2904
01:41:18,873 --> 01:41:21,609
FOUND THAT PEOPLE THAT HAD

2905
01:41:21,609 --> 01:41:23,444
BASICALLY -- IF YOU GO OVER THAT

2906
01:41:23,444 --> 01:41:27,115
PARTICULAR EXAMPLE, IF YOU HAVE

2907
01:41:27,115 --> 01:41:29,317
TWO VARIANTS VERSUS ONE, YOU

2908
01:41:29,317 --> 01:41:30,952
WERE LIKE -- THE PHYSICIANS WERE

2909
01:41:30,952 --> 01:41:34,088
TWICE AS LIKELY TO DO THE

2910
01:41:34,088 --> 01:41:35,289
GENETIC-GUIDED CARE THAN IF THEY

2911
01:41:35,289 --> 01:41:36,157
HAD ONE VARIANT.

2912
01:41:36,157 --> 01:41:37,225
THEY DIDN'T REALLY UNDERSTAND

2913
01:41:37,225 --> 01:41:39,160
ALL THE GENETICS BEHIND IT, BUT

2914
01:41:39,160 --> 01:41:40,595
THEY SORT OF HAD SOME CONCEPT

2915
01:41:40,595 --> 01:41:43,631
AND SOME OF THEM CLICKED THE

2916
01:41:43,631 --> 01:41:45,066
LINK WE HAVE, THE NEXT TIME THEY

2917
01:41:45,066 --> 01:41:46,067
COME TO THE DATA AND THEY COME

2918
01:41:46,067 --> 01:41:47,735
TO PRESCRIBING FOR A PATIENT,

2919
01:41:47,735 --> 01:41:49,637
THEY REALIZE, YES, I CAN DO THIS

2920
01:41:49,637 --> 01:41:50,838
GENETIC THING, AND IT'S NOT THAT

2921
01:41:50,838 --> 01:41:52,006
HARD.

2922
01:41:52,006 --> 01:41:53,441
IF YOU KIND OF FACILITATE THE

2923
01:41:53,441 --> 01:41:53,674
PROCESS.

2924
01:41:53,674 --> 01:41:58,012
SO I THINK OUR EHRs HAVE TO

2925
01:41:58,012 --> 01:41:59,313
COME AND ASSIST AND I THINK

2926
01:41:59,313 --> 01:42:00,114
THERE'S LOTS OF OPPORTUNITIES

2927
01:42:00,114 --> 01:42:00,615
FOR THAT.

2928
01:42:00,615 --> 01:42:03,651
THAT IS TO THE ARTIFICIAL

2929
01:42:03,651 --> 01:42:04,485
INTELLIGENCE PIECE IN THE

2930
01:42:04,485 --> 01:42:06,821
FUTURE, I THINK THAT'S A MODEL

2931
01:42:06,821 --> 01:42:10,024
FOR HOW IT CAN WORK, IN AN

2932
01:42:10,024 --> 01:42:10,691
EXPLAINER -- ONE OF THE THINGS

2933
01:42:10,691 --> 01:42:13,094
WE DID ACTUALLY IS CAN YOU

2934
01:42:13,094 --> 01:42:15,062
PRESENT TO THE PHYSICIAN AS

2935
01:42:15,062 --> 01:42:17,165
THEY'RE ORDERING BOTH YOUR

2936
01:42:17,165 --> 01:42:18,366
RECOMMENDATION AND IF THERE'S

2937
01:42:18,366 --> 01:42:19,801
UNCERTAINTY AROUND IT.

2938
01:42:19,801 --> 01:42:23,538
SO WE DID SOME WORK ON LIKE SH 

2939
01:42:23,538 --> 01:42:25,273
SHOWING WHAT'S KIND OF THE

2940
01:42:25,273 --> 01:42:26,107
CONFIDENCE LEVEL ABOUT HOW MUCH

2941
01:42:26,107 --> 01:42:27,108
THIS MATTERS?

2942
01:42:27,108 --> 01:42:30,745
TBIZS PHYSICIANS CAN QUICKLY ACN

2943
01:42:30,745 --> 01:42:38,319
THAT INFORMATION, IT SEEMS.

2944
01:42:38,319 --> 01:42:43,090
>> AN IN-PERSON QUESTION,
DAN.

2945
01:42:43,090 --> 01:42:44,358
>> A PERSON, WOW.

2946
01:42:44,358 --> 01:42:45,927
>> THANK YOU SO MUCH FOR
THE

2947
01:42:45,927 --> 01:42:46,928
WONDERFUL PRESENTATIONS, AND

2948
01:42:46,928 --> 01:42:52,099
MISS COAL MAN, THANK YOU VERY UU

2949
01:42:52,099 --> 01:42:56,971
MISS COLEMAN THANK YOU FOR YOUR

2950
01:42:56,971 --> 01:42:57,505
PERSPECTIVE.

2951
01:42:57,505 --> 01:42:59,040
BASED ON THE MOTIVATION BEHIND

2952
01:42:59,040 --> 01:43:00,842
THE ALL-OF-US SPHU DI, WHETHER

2953
01:43:00,842 --> 01:43:02,477
YOU FORESEE OR MIGHT EVEN

2954
01:43:02,477 --> 01:43:03,778
ADVOCATE IN THE FUTURE KIND OF

2955
01:43:03,778 --> 01:43:05,713
MORE GENETIC, MORE COMPREHENSIVE

2956
01:43:05,713 --> 01:43:06,914
GENETIC TESTING AS PART OF

2957
01:43:06,914 --> 01:43:07,815
NEWBORN SCREENING, IS THAT

2958
01:43:07,815 --> 01:43:09,550
SOMETHING THAT YOU KIND OF

2959
01:43:09,550 --> 01:43:11,352
ENVISION MOVING FORWARD BASED ON

2960
01:43:11,352 --> 01:43:14,155
WHAT YOU'VE KIND OF EXPERIENCED

2961
01:43:14,155 --> 01:43:15,490
WITH THE ALL-OF-US STUDY?

2962
01:43:15,490 --> 01:43:16,691
ACTUALLY JUST A SECOND QUESTION

2963
01:43:16,691 --> 01:43:17,758
FOR MISS COLEMAN.

2964
01:43:17,758 --> 01:43:19,393
I WAS ALSO CURIOUS, HOW DID YOU

2965
01:43:19,393 --> 01:43:20,595
ACTUALLY LEARN ABOUT THE STUDY,

2966
01:43:20,595 --> 01:43:23,831
AND HOW DO PEOPLE IN GENERAL

2967
01:43:23,831 --> 01:43:24,699
LEARN ABOUT WHETHER THEY CAN

2968
01:43:24,699 --> 01:43:32,273
PARTICIPATE?

2969
01:43:32,273 --> 01:43:33,941
>> WELL, I LEARNED ABOUT
THE

2970
01:43:33,941 --> 01:43:35,376
STUDY BECAUSE FIRST OF ALL, I

2971
01:43:35,376 --> 01:43:37,879
WORK HERE AT NIH, AND I WAS

2972
01:43:37,879 --> 01:43:39,313
SITTING AT MY DESK ONE DAY AND

2973
01:43:39,313 --> 01:43:43,551
IT JUST CAME ACROSS MY DESK, YOU

2974
01:43:43,551 --> 01:43:47,421
KNOW, WE WERE LOOKING FOR 500

2975
01:43:47,421 --> 01:43:48,556
AFRICAN AMERICANS TO PARTICIPATE

2976
01:43:48,556 --> 01:43:50,858
IN THE STUDY ABOUT THE HEART,

2977
01:43:50,858 --> 01:43:52,760
AND RIGHT AWAY, WHEN THEY SAID

2978
01:43:52,760 --> 01:43:56,264
THE HEART, BECAUSE OF MY FAMILY

2979
01:43:56,264 --> 01:43:59,901
HISTORY, I WANTED TO PARTICI 

2980
01:43:59,901 --> 01:44:01,269
PARTICIPATE.

2981
01:44:01,269 --> 01:44:03,237
AND TRY TO REACH OUT AND GET AS

2982
01:44:03,237 --> 01:44:04,539
MANY OTHER TO PARTICIPATE AS I

2983
01:44:04,539 --> 01:44:05,640
WAS DOING.

2984
01:44:05,640 --> 01:44:14,916
THAT'S HOW I FOUND OUT ABOUT IT.

2985
01:44:14,916 --> 01:44:17,184
>> I'LL TAKE A STAB AND
THEN LET

2986
01:44:17,184 --> 01:44:18,719
LES ADD AND CORRECT WHAT I SAY.

2987
01:44:18,719 --> 01:44:23,057
IN TERMS OF SEQUENCING AT THE

2988
01:44:23,057 --> 01:44:24,358
NEWBORN LEVEL AND WHAT YOU CAN

2989
01:44:24,358 --> 01:44:27,194
GAIN, THE REAL EXPERT HERE IS

2990
01:44:27,194 --> 01:44:29,997
NOT -- NEITHER OF US, BUT DIANA

2991
01:44:29,997 --> 01:44:31,098
BIANCHI, WHO DOES A LOT OF WORK

2992
01:44:31,098 --> 01:44:31,966
IN THIS SPACE.

2993
01:44:31,966 --> 01:44:36,671
BUT I'LL JUST SAY THAT AS WE

2994
01:44:36,671 --> 01:44:39,240
MOVE INTO THE PEDIATRIC SPHERE

2995
01:44:39,240 --> 01:44:41,776
WITH ALL-OF-US, WE'RE THINKING A

2996
01:44:41,776 --> 01:44:43,844
LOT ABOUT -- THAT'S NOT IS

2997
01:44:43,844 --> 01:44:44,979
MUCH -- LIKE THE PRENATAL, BUT

2998
01:44:44,979 --> 01:44:46,981
THAT WOULD BE NEWBORN, WHAT

2999
01:44:46,981 --> 01:44:49,917
KINDS OF THINGS WE RETURN TO

3000
01:44:49,917 --> 01:44:51,652
PARTICIPANTS AND WHAT THAT MIGHT

3001
01:44:51,652 --> 01:44:54,055
LOOK LIKE AS AN EVOLVING STORY

3002
01:44:54,055 --> 01:44:56,791
OVER TIME, SO WE THINK IN OUR --

3003
01:44:56,791 --> 01:44:58,292
OUR ANSWER, FOR INSTANCE, SOME

3004
01:44:58,292 --> 01:45:02,697
OF THESE VARIANTS LIKE BRCA1,

3005
01:45:02,697 --> 01:45:04,899
THE BREAST OVARIAN CANCER

3006
01:45:04,899 --> 01:45:06,367
SYNDROME VARIANTS, YOU DON'T

3007
01:45:06,367 --> 01:45:07,435
NECESSARILY NEED TO TELL SOMEONE

3008
01:45:07,435 --> 01:45:08,135
WHEN THEY'RE A BABY.

3009
01:45:08,135 --> 01:45:09,270
YOU CAN LET THEM MAKE THAT

3010
01:45:09,270 --> 01:45:10,638
CHOICE WHEN THEY'RE 18.

3011
01:45:10,638 --> 01:45:12,473
AND SO -- BUT OTHER KINDS OF

3012
01:45:12,473 --> 01:45:14,709
THINGS MIGHT BE VERY RELEVANT

3013
01:45:14,709 --> 01:45:16,243
WHEN THEY'RE AN INFANT.

3014
01:45:16,243 --> 01:45:18,312
SO I'M NOT A PEDIATRICIAN.

3015
01:45:18,312 --> 01:45:19,413
BUT WE'RE SORT OF REALLY

3016
01:45:19,413 --> 01:45:21,449
THINKING ABOUT WHAT THAT IS.

3017
01:45:21,449 --> 01:45:22,984
I THINK WE'LL SEE, THOUGH, IN

3018
01:45:22,984 --> 01:45:24,885
GENERAL THERE'S A REAL POWER

3019
01:45:24,885 --> 01:45:27,054
TOWARDS HAVING SEQUENCE DATA

3020
01:45:27,054 --> 01:45:28,656
AVAILABLE, AND THEN USING IT AS

3021
01:45:28,656 --> 01:45:30,057
YOU NEED IT, AND THERE'S SOME

3022
01:45:30,057 --> 01:45:31,692
MODELS OUT THERE WHERE YOU GET

3023
01:45:31,692 --> 01:45:33,961
THE SEQUENCE AND THEN YOU'RE

3024
01:45:33,961 --> 01:45:35,162
PRESCRIBING A NEW DRUG, YOU HAVE

3025
01:45:35,162 --> 01:45:37,131
A NEW SET OF CONDITIONS AND YOU

3026
01:45:37,131 --> 01:45:38,199
ACTUALLY INTERROGATE IT WHEN YOU

3027
01:45:38,199 --> 01:45:39,367
NEED TO FOR THAT QUESTION YOU

3028
01:45:39,367 --> 01:45:40,334
HAVE IN MIND.

3029
01:45:40,334 --> 01:45:41,469
LIKE THERE'S A SET OF THINGS

3030
01:45:41,469 --> 01:45:44,305
MAYBE YOU DO AS A PANEL SO TO

3031
01:45:44,305 --> 01:45:45,773
SPEAK AT BIRTH AND ANOTHER PANEL

3032
01:45:45,773 --> 01:45:47,541
YOU DO AT 18 AND ANOTHER PANEL

3033
01:45:47,541 --> 01:45:51,045
WHEN YOU HAVE ANY HEART

3034
01:45:51,045 --> 01:45:51,345
CONDITION.

3035
01:45:51,345 --> 01:45:53,447
I THINK THERE COULD BE -- WE'LL

3036
01:45:53,447 --> 01:45:54,715
SEE DIFFERENT MODELS THAT EVOLVE

3037
01:45:54,715 --> 01:45:56,017
OVER TIME AND THAT'S ONE WAY TO

3038
01:45:56,017 --> 01:45:57,218
LOOK AT IT.

3039
01:45:57,218 --> 01:45:58,519
LES, WHAT WOULD YOU SAY?

3040
01:45:58,519 --> 01:46:00,554
>> I THINK IT'S A GREAT --
IT'S

3041
01:46:00,554 --> 01:46:02,289
A HEALTH ECONOMICS QUESTION

3042
01:46:02,289 --> 01:46:04,825
REALLY PRIMARILY.

3043
01:46:04,825 --> 01:46:07,128
AND OF COURSE THE HEALTH

3044
01:46:07,128 --> 01:46:08,295
ECONOMICS PRINCIPLE IS THAT THE

3045
01:46:08,295 --> 01:46:10,031
NUMBER OF QUALITY ADJUSTED LIFE

3046
01:46:10,031 --> 01:46:15,069
YEARS YOU ADD TO SOMEONE GOES UP

3047
01:46:15,069 --> 01:46:16,671
THE YOUNGER YOU IMPLEMENT A

3048
01:46:16,671 --> 01:46:17,538
TOOL.

3049
01:46:17,538 --> 01:46:19,940
AND SO IF I CAN IMPROVE

3050
01:46:19,940 --> 01:46:23,444
SOMEONE'S QUALITY OF LIFE BY A

3051
01:46:23,444 --> 01:46:25,546
CERTAIN INCREMENT AND I START

3052
01:46:25,546 --> 01:46:26,981
DOING THAT WHEN THEY'RE AN

3053
01:46:26,981 --> 01:46:31,152
INFANT, THEN I AM GAINING MUCH

3054
01:46:31,152 --> 01:46:32,853
MORE VALUE OUT OF MY HEALTHCARE

3055
01:46:32,853 --> 01:46:39,627
INTERVENTION THAN IF YOU START

3056
01:46:39,627 --> 01:46:40,394
WHEN YOU'RE 67, OKAY?

3057
01:46:40,394 --> 01:46:41,495
YOU'RE NOT GOING TO GET THAT

3058
01:46:41,495 --> 01:46:43,097
MUCH OUT OF ME.

3059
01:46:43,097 --> 01:46:44,398
SO -- NOT AS MUCH.

3060
01:46:44,398 --> 01:46:46,367
AND SO WHAT WE HAVE TO THINK

3061
01:46:46,367 --> 01:46:49,103
ABOUT, AND THE DATA ARE VERY

3062
01:46:49,103 --> 01:46:50,905
CLEAR, AND JENNIFER PUCK, YOUR

3063
01:46:50,905 --> 01:46:52,239
FIRST PRESENTER, IS A VERY

3064
01:46:52,239 --> 01:46:53,541
STRONG ADVOCATE OF THAT.

3065
01:46:53,541 --> 01:46:56,143
THERE IS NO DOUBT THE DATA ARE

3066
01:46:56,143 --> 01:47:01,582
ABSOLUTELY CLEAR THAT IF YOU

3067
01:47:01,582 --> 01:47:03,350
PARAGENOME WITH A STANDARD

3068
01:47:03,350 --> 01:47:05,152
METABOLIC OR TREX NEWBORN

3069
01:47:05,152 --> 01:47:06,253
SCREEN, YOU SIGNIFICANTLY

3070
01:47:06,253 --> 01:47:07,254
INCREASE THE YIELD.

3071
01:47:07,254 --> 01:47:09,190
THAT HAS BEEN PROVEN BY STUDIES

3072
01:47:09,190 --> 01:47:10,591
DONE IN OUR INSTITUTE IN CHILD

3073
01:47:10,591 --> 01:47:11,025
HEALTH.

3074
01:47:11,025 --> 01:47:12,760
SO WE KNOW THAT THE MARGINAL

3075
01:47:12,760 --> 01:47:16,697
BENEFIT IS THERE.

3076
01:47:16,697 --> 01:47:17,798
WHAT WE HAVE TO DO IS DEVELOP

3077
01:47:17,798 --> 01:47:19,166
THE TOOLS TO DO LIKE WHAT JOSH

3078
01:47:19,166 --> 01:47:20,367
WAS SAYING, IS TO THINK ABOUT

3079
01:47:20,367 --> 01:47:21,769
STAGING IT AND ROLLING IT OUT

3080
01:47:21,769 --> 01:47:25,473
OVER THE PERSON'S LIFETIME

3081
01:47:25,473 --> 01:47:27,742
BECAUSE YOU DON'T WANT TO TELL

3082
01:47:27,742 --> 01:47:28,843
THEM ABOUT COLON CANCER UNTIL

3083
01:47:28,843 --> 01:47:30,845
THEY'RE PROBABLY IN THEIR 20s

3084
01:47:30,845 --> 01:47:32,646
OR 30s, AND YOU PROBABLY DON'T

3085
01:47:32,646 --> 01:47:33,848
WANT TO TELL THEM ABOUT

3086
01:47:33,848 --> 01:47:35,816
ALZHEIMER'S IN THE NURSERY.

3087
01:47:35,816 --> 01:47:38,953
IT'S JUST NOT HELPFUL TO STOP

3088
01:47:38,953 --> 01:47:39,120
IT.

3089
01:47:39,120 --> 01:47:40,254
SO WE HAVE TO THINK ABOUT WAYS

3090
01:47:40,254 --> 01:47:41,689
TO BUILD A SYSTEM THAT CAN

3091
01:47:41,689 --> 01:47:43,491
RESPOND TO THAT AND DO THAT IN A

3092
01:47:43,491 --> 01:47:45,292
SENSIBLE WAY SO THAT THE PATIENT

3093
01:47:45,292 --> 01:47:47,561
CAN MAXIMALLY BENEFIT, BECAUSE

3094
01:47:47,561 --> 01:47:49,363
IF YOU SEQUENCE ME WHEN I'M 40

3095
01:47:49,363 --> 01:47:52,099
YEARS OLD, THAT MEANS THAT YOU

3096
01:47:52,099 --> 01:47:54,602
HAVE LOST THE OPPORTUNITY FOR ME

3097
01:47:54,602 --> 01:47:59,940
TO BENEFIT FROM THAT IN MY

3098
01:47:59,940 --> 01:48:00,508
PRECEDING 40 YEARS.

3099
01:48:00,508 --> 01:48:01,575
SO WE HAVE TO THINK ABOUT IT

3100
01:48:01,575 --> 01:48:02,376
THAT WAY.

3101
01:48:02,376 --> 01:48:03,110
>> ALL RIGHT.

3102
01:48:03,110 --> 01:48:04,311
WELL, HERE'S ANOTHER QUESTION

3103
01:48:04,311 --> 01:48:08,015
THAT CAME IN OVER THE WIRE.

3104
01:48:08,015 --> 01:48:10,718
SO INCOMPLETE PENETRANCE AND

3105
01:48:10,718 --> 01:48:11,952
VARIABLE EXPRESSIVITY IMPLY THAT

3106
01:48:11,952 --> 01:48:13,320
THERE ARE OTHER SIGNIFICANT

3107
01:48:13,320 --> 01:48:16,257
FACTORS AT PLAY ON GENETIC

3108
01:48:16,257 --> 01:48:16,524
DISEASES.

3109
01:48:16,524 --> 01:48:18,058
SUCH AS, THAT YOU HAVE PRESENTED

3110
01:48:18,058 --> 01:48:19,593
HERE TODAY.

3111
01:48:19,593 --> 01:48:21,262
WHAT ABOUT THE ROLE OF

3112
01:48:21,262 --> 01:48:27,835
EPIGENETIC FACTORS?

3113
01:48:27,835 --> 01:48:29,670
>> MODIFIERS.

3114
01:48:29,670 --> 01:48:31,272
CERTAINLY OTHER VARIATION IN THE

3115
01:48:31,272 --> 01:48:35,209
GENOME CAN AFFECT PENETRANCE AND

3116
01:48:35,209 --> 01:48:36,844
EXPRESSIVITY THAT CAN BE CHANGES

3117
01:48:36,844 --> 01:48:37,611
IN THE GENOME SEQUENCE.

3118
01:48:37,611 --> 01:48:39,747
IT COULD BE CHANGES IN

3119
01:48:39,747 --> 01:48:41,282
METHYLATION.

3120
01:48:41,282 --> 01:48:43,818
AND IT IS ABSOLUTELY ALSO

3121
01:48:43,818 --> 01:48:44,385
ENVIRONMENT.

3122
01:48:44,385 --> 01:48:47,955
ENVIRONMENT HAS A HUGE EFFECT.

3123
01:48:47,955 --> 01:48:50,891
SO ALL OF THE ABOVE, AND IT

3124
01:48:50,891 --> 01:48:52,626
VARIES, THE MIX OF THOSE

3125
01:48:52,626 --> 01:48:54,728
ATTRIBUTES THAT DETERMINE

3126
01:48:54,728 --> 01:48:56,230
PENETRANCE AND EXPRESSIVITY IS

3127
01:48:56,230 --> 01:48:58,365
SLIGHTLY DIFFERENT FOR EVERY

3128
01:48:58,365 --> 01:48:59,667
DISORDER, AND WE'RE MAKING

3129
01:48:59,667 --> 01:49:04,605
PROGRESS ON THAT IN THE WHOLE

3130
01:49:04,605 --> 01:49:05,873
GENOTYPE RISK SCORES ARE

3131
01:49:05,873 --> 01:49:07,641
PROBABLY GOING TO BE ONE OF THE

3132
01:49:07,641 --> 01:49:08,709
EARLIER IMPLEMENTATIONS I THINK

3133
01:49:08,709 --> 01:49:11,111
OF YES NE TICK MODIFIERS.

3134
01:49:11,111 --> 01:49:14,248
WOULDN'T YOU SAY, FOR LIKE

3135
01:49:14,248 --> 01:49:15,015
CANCER, THINGS LIKE THAT.

3136
01:49:15,015 --> 01:49:18,519
SO YOU MAY HAVE A LYNCH SYNDROME

3137
01:49:18,519 --> 01:49:22,556
VARIANT THAT SAYS YOU HAVE LYNCH

3138
01:49:22,556 --> 01:49:24,191
SYNDROME, BUT NOT EVERYBODY WITH

3139
01:49:24,191 --> 01:49:25,693
LYNCH SYNDROME ENDS UP HAVING

3140
01:49:25,693 --> 01:49:26,894
CANCER AND PROBABLY THAT, WE CAN

3141
01:49:26,894 --> 01:49:28,963
BEGIN TO FINE-TUNE THAT BY

3142
01:49:28,963 --> 01:49:29,864
UNDERSTANDING THE OTHER

3143
01:49:29,864 --> 01:49:34,969
MODIFIERS.

3144
01:49:34,969 --> 01:49:39,006
>> WE HAVE A QUESTION.

3145
01:49:39,006 --> 01:49:39,340
>> HI.

3146
01:49:39,340 --> 01:49:39,874
THANK YOU.

3147
01:49:39,874 --> 01:49:41,075
I'M ACTUALLY GOING OFF OF YOUR

3148
01:49:41,075 --> 01:49:42,176
QUESTION AND KIND OF MY

3149
01:49:42,176 --> 01:49:46,080
EXPERIENCE IN THE CLINICAL

3150
01:49:46,080 --> 01:49:46,947
GENETIC COUNSELING FIELD AS

3151
01:49:46,947 --> 01:49:47,514
WELL.

3152
01:49:47,514 --> 01:49:49,917
HAVING COUNSELED PATIENTS AND

3153
01:49:49,917 --> 01:49:51,719
FAMILIES FROM RECLASSIFICATION

3154
01:49:51,719 --> 01:49:54,121
OF RESULTS OVER TIME AND I KNOW

3155
01:49:54,121 --> 01:49:55,789
EARLIER WE WERE TALKING A LITTLE

3156
01:49:55,789 --> 01:49:58,259
BIT ABOUT TIME SCAPE AND

3157
01:49:58,259 --> 01:49:58,859
PERSONHOOD ESSENTIALLY OF HOW

3158
01:49:58,859 --> 01:50:01,128
MUCH TIME IT WILL TAKE TO

3159
01:50:01,128 --> 01:50:05,799
REANALYZE RESULTS OVER TIME, ONE

3160
01:50:05,799 --> 01:50:07,902
THING THAT IN THE CLINIC WE

3161
01:50:07,902 --> 01:50:11,572
WOULD ASK FOR RE-ANALYSIS OF

3162
01:50:11,572 --> 01:50:16,710
EXOME AND GENOME AND WAIT AGAIN

3163
01:50:16,710 --> 01:50:18,145
6 TO 8 WEEKS FOR THOSE RESULTS,

3164
01:50:18,145 --> 01:50:19,713
I CAN IMAGINE IF WE START DOING

3165
01:50:19,713 --> 01:50:22,683
GENOME EXOME EARLY ON IN LIFE,

3166
01:50:22,683 --> 01:50:24,551
AS SYMPTOMS START COMING UP WITH

3167
01:50:24,551 --> 01:50:26,587
MORE PHENOTYPIC DATA, THAT WOULD

3168
01:50:26,587 --> 01:50:28,455
KIND OF MAKE THAT SESSION GO

3169
01:50:28,455 --> 01:50:30,958
AGAIN, BUT ESSENTIALLY IT MORE

3170
01:50:30,958 --> 01:50:32,192
OF JUST A OTHER THINGS TO

3171
01:50:32,192 --> 01:50:32,893
CONSIDER AS WE START TALKING

3172
01:50:32,893 --> 01:50:34,662
ABOUT DOING THESE LARGER TESTS

3173
01:50:34,662 --> 01:50:37,398
EARLIER WITHOUT PHENOTYPIC DATA

3174
01:50:37,398 --> 01:50:40,534
IS ONCE IT OCCURS, THAT CHANGES

3175
01:50:40,534 --> 01:50:41,535
THE ANALYSIS OF THE DATA AS

3176
01:50:41,535 --> 01:50:41,969
WELL.

3177
01:50:41,969 --> 01:50:46,006
DOES THAT MAKE SENSE, KIND OF?

3178
01:50:46,006 --> 01:50:49,076
>> SO IT'S ALL GOING TO BE

3179
01:50:49,076 --> 01:50:51,245
DYNAMIC AND I THINK THE

3180
01:50:51,245 --> 01:50:53,180
IMPLICATION OF YOUR QUESTION, I

3181
01:50:53,180 --> 01:50:54,381
AGREE WITH, WHICH IS THAT

3182
01:50:54,381 --> 01:50:55,382
PATIENTS KIND OF DON'T LIKE

3183
01:50:55,382 --> 01:50:58,319
THAT.

3184
01:50:58,319 --> 01:51:00,254
THEY DON'T LIKE IF YOU SAY ONE

3185
01:51:00,254 --> 01:51:01,121
THING ONE TIME AND YOU SAY A

3186
01:51:01,121 --> 01:51:03,657
DIFFERENT THING ANOTHER TIME.

3187
01:51:03,657 --> 01:51:06,293
HUMANS DON'T THINK THAT'S FUN.

3188
01:51:06,293 --> 01:51:08,429
SO -- BUT IT'S REALITY.

3189
01:51:08,429 --> 01:51:10,564
AND KNOWLEDGE, THANK GOODNESS

3190
01:51:10,564 --> 01:51:11,699
KNOWLEDGE IS GOING TO IMPROVE,

3191
01:51:11,699 --> 01:51:13,467
RIGHT?

3192
01:51:13,467 --> 01:51:16,603
AND SO OUR CLASSIFICATIONS AND

3193
01:51:16,603 --> 01:51:19,239
OUR INTERPRETATIONS ARE GOING TO

3194
01:51:19,239 --> 01:51:22,943
CHANGE OVER TIME, AND THAT'S

3195
01:51:22,943 --> 01:51:25,346
ANOTHER THAI THING THAT WE NEEDO

3196
01:51:25,346 --> 01:51:27,081
PROVIDE PROVIDERS WITH TOOLS TO

3197
01:51:27,081 --> 01:51:29,717
SUPPORT THEM IN DOING THAT.

3198
01:51:29,717 --> 01:51:31,352
AND ALSO PROBABLY TOOLS LIKE WE

3199
01:51:31,352 --> 01:51:32,619
WERE TALKING ABOUT EARLIER,

3200
01:51:32,619 --> 01:51:34,054
WHERE IT DOESN'T INVOLVE A

3201
01:51:34,054 --> 01:51:36,357
CLINICIAN AND THEY CAN GET --

3202
01:51:36,357 --> 01:51:37,925
THEY CAN CHECK IN ON THEIR

3203
01:51:37,925 --> 01:51:40,361
GENOME AND GET AN UPDATED

3204
01:51:40,361 --> 01:51:41,829
CLASSIFICATION OVER THE COMPUTER

3205
01:51:41,829 --> 01:51:43,530
FROM THE COMFORT OF THEIR HOME,

3206
01:51:43,530 --> 01:51:44,798
AND SAY WELL MAYBE YOU SHOULD GO

3207
01:51:44,798 --> 01:51:47,868
TALK TO SOMEBODY ABOUT THIS.

3208
01:51:47,868 --> 01:51:50,170
OR THIS, THAT AND THE OTHERS

3209
01:51:50,170 --> 01:51:51,372
CHANGE BUT IT'S PROBABLY NOT

3210
01:51:51,372 --> 01:51:52,139
THAT MEANINGFUL.

3211
01:51:52,139 --> 01:51:53,207
>> I THINK THAT'S SUCH A
GREAT

3212
01:51:53,207 --> 01:51:53,540
QUESTION.

3213
01:51:53,540 --> 01:51:55,409
I JUST WANT TO ADD A

3214
01:51:55,409 --> 01:51:56,143
PERSPECTIVE.

3215
01:51:56,143 --> 01:51:57,978
WE'RE SO YOUNG WITH ANALYSIS OF

3216
01:51:57,978 --> 01:52:06,253
JEA NOFGENOMES AND CLINICAL

3217
01:52:06,253 --> 01:52:06,620
INTERPRETATION.

3218
01:52:06,620 --> 01:52:08,489
WE NEED TO THINK OF IT MORE LIKE

3219
01:52:08,489 --> 01:52:11,191
GETTING YOUR BMP OR CBC,

3220
01:52:11,191 --> 01:52:12,226
CHOLESTEROL PANEL, THESE KINDS

3221
01:52:12,226 --> 01:52:13,460
OF THINGS WE TEST CLINICALLY.

3222
01:52:13,460 --> 01:52:15,229
JUST BECAUSE WE'RE NOT DRAWING

3223
01:52:15,229 --> 01:52:16,964
ANOTHER BLOOD SAMPLE DOESN'T

3224
01:52:16,964 --> 01:52:18,365
MEAN THAT WE'RE NOT REANALYZING

3225
01:52:18,365 --> 01:52:20,567
THIS.

3226
01:52:20,567 --> 01:52:22,302
AND I THINK THAT COMMUNICATION

3227
01:52:22,302 --> 01:52:23,937
IS HARD BECAUSE PEOPLE AREN'T

3228
01:52:23,937 --> 01:52:26,540
USED TO THINKING -- IT ONLY IF

3229
01:52:26,540 --> 01:52:27,408
YOU'RE LIKE DOING SOMETHING NEW

3230
01:52:27,408 --> 01:52:30,577
TO ME, BUT THAT'S ESSENTIALLY --

3231
01:52:30,577 --> 01:52:32,846
THERE'S SO MANY FACTORS THAT

3232
01:52:32,846 --> 01:52:33,113
INTERACT.

3233
01:52:33,113 --> 01:52:34,381
IN THE CLINICAL, EVEN BEYOND

3234
01:52:34,381 --> 01:52:38,552
LIKE VARIANT INTERPRETATION, THE

3235
01:52:38,552 --> 01:52:41,455
CLINICAL FACTORS THAT ARE

3236
01:52:41,455 --> 01:52:42,356
CHANGING TO THE PERSON ARE GOING

3237
01:52:42,356 --> 01:52:44,124
TO CHANGE RISK PROFILES THAT

3238
01:52:44,124 --> 01:52:45,793
MAKE THE RISK SCORE PLUS THESE

3239
01:52:45,793 --> 01:52:46,460
OTHER THINGS MATTER WHEN IT

3240
01:52:46,460 --> 01:52:48,095
DIDN'T USED TO MATTER.

3241
01:52:48,095 --> 01:52:49,730
EVEN IF WE DIDN'T HAVE ANY NEW

3242
01:52:49,730 --> 01:52:49,963
SCIENCE.

3243
01:52:49,963 --> 01:52:53,333
SO I THINK THE SORT OF DIGITAL

3244
01:52:53,333 --> 01:52:54,868
ANALYSIS NEEDS TO BE ALMOST AKIN

3245
01:52:54,868 --> 01:52:57,438
TO LIKE THAT BMP YOU GET EVERY

3246
01:52:57,438 --> 01:53:02,943
YEAR, OR MORE.

3247
01:53:02,943 --> 01:53:04,845
>> SO WHAT'S THE CURRENT
STATUS

3248
01:53:04,845 --> 01:53:11,552
OF THE PRIVACY ISSUE OF WHEN YOU

3249
01:53:11,552 --> 01:53:13,387
IDENTIFY GENETIC MUTANTS AND SO

3250
01:53:13,387 --> 01:53:16,223
FORTH?

3251
01:53:16,223 --> 01:53:17,758
IN PATIENTS WHETHER THEY'RE

3252
01:53:17,758 --> 01:53:19,593
SYMPTOMATIC OR NOT, WHAT IS THE

3253
01:53:19,593 --> 01:53:20,794
PRIVACY PARTICULARLY WHEN IT

3254
01:53:20,794 --> 01:53:22,763
COMES WHEN THEY APPLY FOR LIFE

3255
01:53:22,763 --> 01:53:24,631
INSURANCE AND ALL THAT SORT OF

3256
01:53:24,631 --> 01:53:24,832
THING?

3257
01:53:24,832 --> 01:53:27,468
>> WELL, OF COURSE WE'VE
ALREADY

3258
01:53:27,468 --> 01:53:30,804
DISCUSSED GENA, WHICH IS FOR

3259
01:53:30,804 --> 01:53:34,007
HEALTH INSURANCE AND EMPLOYMENT,

3260
01:53:34,007 --> 01:53:36,877
AND LIFE DISABILITY AND

3261
01:53:36,877 --> 01:53:37,611
LONG-TERM CARE, THANK YOU.

3262
01:53:37,611 --> 01:53:42,416
I KNEW THERE WAS A THIRD ONE,

3263
01:53:42,416 --> 01:53:44,885
ENSURES CAN DISCRIMINATE BASED

3264
01:53:44,885 --> 01:53:47,721
ONON GENETIC TEST RESULTS.

3265
01:53:47,721 --> 01:53:49,256
IN SOME OF THEM IF YOU APPLY FOR

3266
01:53:49,256 --> 01:53:50,324
INSURANCE, THEY MAY ASK YOU IF

3267
01:53:50,324 --> 01:53:51,758
YOU HAVE SUCH INFORMATION, AND

3268
01:53:51,758 --> 01:53:55,062
IF THEY ASK YOU, YOU ARE

3269
01:53:55,062 --> 01:53:57,197
OBLIGATED TO TELL THEM THAT YOU

3270
01:53:57,197 --> 01:53:58,398
HAVE BEEN TESTED AND YOU HAVE

3271
01:53:58,398 --> 01:53:59,933
THIS, THAT AND THE OTHER RESULT.

3272
01:53:59,933 --> 01:54:03,337
SO IT'S A FACTOR.

3273
01:54:03,337 --> 01:54:04,938
SO THAT IS AN ISSUE THAT PEOPLE

3274
01:54:04,938 --> 01:54:06,240
HAVE TO ADDRESS AND THEY HAVE TO

3275
01:54:06,240 --> 01:54:11,378
WEIGH THE PROS AND CONS OF THAT.

3276
01:54:11,378 --> 01:54:13,780
THE OVERALL PRIVACY AND

3277
01:54:13,780 --> 01:54:15,082
CONFIDENTIALITY, I THINK WE'RE

3278
01:54:15,082 --> 01:54:17,251
REALLY -- GENETICS WAS VERY

3279
01:54:17,251 --> 01:54:19,086
EXCEPTIONAL 10 OR 15 YEARS AGO.

3280
01:54:19,086 --> 01:54:22,156
AND PEOPLE WERE BORDERLINE

3281
01:54:22,156 --> 01:54:24,892
TERRIFIED ABOUT PRIVACY AND

3282
01:54:24,892 --> 01:54:26,126
CONFIDENTIALITY WITH GENETICS.

3283
01:54:26,126 --> 01:54:27,194
I THINK WHAT WE'VE LEARNED IN

3284
01:54:27,194 --> 01:54:28,962
THE ENSUING 10 OR 15 YEARS IS

3285
01:54:28,962 --> 01:54:32,666
THAT IT'S REALLY PRETTY MUCH THE

3286
01:54:32,666 --> 01:54:34,168
SAME AS ALL THE REST OF YOUR

3287
01:54:34,168 --> 01:54:35,035
HEALTHCARE INFORMATION THAT YOU

3288
01:54:35,035 --> 01:54:36,370
VERY APPROPRIATELY PROBABLY

3289
01:54:36,370 --> 01:54:38,539
DON'T WANT EVERYONE TO KNOW

3290
01:54:38,539 --> 01:54:38,872
ABOUT.

3291
01:54:38,872 --> 01:54:40,274
AND SO IT'S JUST HEALTHCARE

3292
01:54:40,274 --> 01:54:43,343
INFORMATION.

3293
01:54:43,343 --> 01:54:45,012
AND IT IS NO MORE PREDICTIVE OF

3294
01:54:45,012 --> 01:54:46,180
WHEN YOU'RE GOING TO DIE THAN

3295
01:54:46,180 --> 01:54:47,581
YOUR CHOLESTEROL.

3296
01:54:47,581 --> 01:54:52,085
AND SO WE NEED TO THINK ABOUT IT

3297
01:54:52,085 --> 01:54:53,453
LIKE JUST ALL THE OTHER KINDS OF

3298
01:54:53,453 --> 01:54:55,389
HEALTH INFORMATION WITH THAT ONE

3299
01:54:55,389 --> 01:54:56,823
EXCEPTION OF THOSE THREE KINDS

3300
01:54:56,823 --> 01:54:58,825
OF INSURANCE.

3301
01:54:58,825 --> 01:55:03,297
>> SO A GENETIC RISK
FACTOR IS

3302
01:55:03,297 --> 01:55:05,933
COMPARABLE TO AN ENVIRONMENTAL

3303
01:55:05,933 --> 01:55:09,836
OR PHYSICAL ACTIVITY RISK FACTOR

3304
01:55:09,836 --> 01:55:14,308
AS FAR AS ITS RELATIONSHIP TO

3305
01:55:14,308 --> 01:55:15,509
LIFE INSURABILITY AND ALL?

3306
01:55:15,509 --> 01:55:16,910
>> IT CAN BE MUCH LESS

3307
01:55:16,910 --> 01:55:19,513
SIGNIFICANT.

3308
01:55:19,513 --> 01:55:20,847
YOUR BMI IS A MUCH BETTER

3309
01:55:20,847 --> 01:55:21,815
PREDICTOR OF HOW LONG YOU'RE

3310
01:55:21,815 --> 01:55:23,984
GOING TO LIVE THAN MOST VARIANTS

3311
01:55:23,984 --> 01:55:27,154
IN YOUR GENOME.

3312
01:55:27,154 --> 01:55:31,525
AND THAT'S NOT PRIVATE.

3313
01:55:31,525 --> 01:55:31,792
[LAUGHTER]

3314
01:55:31,792 --> 01:55:35,696
>> SO IT'S NOW 5:56 P.M.,
AND SO

3315
01:55:35,696 --> 01:55:37,297
WE'RE COMING UP ON THE END OF

3316
01:55:37,297 --> 01:55:38,832
THIS, AND SO FIRST OF ALL, I DO

3317
01:55:38,832 --> 01:55:41,101
WANT TO REMIND ANYONE WHO WANTS

3318
01:55:41,101 --> 01:55:43,837
TO GET CME CREDIT THAT THE

3319
01:55:43,837 --> 01:55:53,914
NUMBER IS 5289, THAT 520 -- THES

3320
01:55:53,914 --> 01:55:55,382
52089 THAT YOU WOULD HAVE TO

3321
01:55:55,382 --> 01:55:56,583
CALL IN THAT NUMBER.

3322
01:55:56,583 --> 01:56:04,658
SECOND THING, I'LL BE -- MAYBE

3323
01:56:04,658 --> 01:56:06,827
THE AD MAN FOR CLINSEQ AND

3324
01:56:06,827 --> 01:56:07,694
ALL-OF-US IN THE LAST THREE

3325
01:56:07,694 --> 01:56:08,595
MINUTES.

3326
01:56:08,595 --> 01:56:11,865
HOW WOULD SOMEONE SIGN UP FOR

3327
01:56:11,865 --> 01:56:13,500
ALL-OF-US OR CLINSEQ IF THEY

3328
01:56:13,500 --> 01:56:15,569
WANTED TO, OR CAN THEY?

3329
01:56:15,569 --> 01:56:18,071
>> RIGHT NOW, CLINSEQ IS
NOT

3330
01:56:18,071 --> 01:56:19,940
OPEN.

3331
01:56:19,940 --> 01:56:21,808
BUT ALL-OF-US DEFINITELY IS.

3332
01:56:21,808 --> 01:56:23,543
>> WE ARE DEFINITELY OPEN.

3333
01:56:23,543 --> 01:56:26,380
JOIN ALL-OF-US.ORG.

3334
01:56:26,380 --> 01:56:26,580
AND --

3335
01:56:26,580 --> 01:56:28,282
>> THAT'S IT?

3336
01:56:28,282 --> 01:56:34,454
>> THAT'S THE URL.

3337
01:56:34,454 --> 01:56:38,625
JOINALLOFUS.ORG.

3338
01:56:38,625 --> 01:56:40,894
YOU CAN JOIN FROM ANYWHERE.

3339
01:56:40,894 --> 01:56:43,297
WE CAN SEND A SALIVA KIT TO YOUR

3340
01:56:43,297 --> 01:56:45,065
HOUSE, WE CAN SEND YOU TO A

3341
01:56:45,065 --> 01:56:46,333
QUEST LOCATION, WE HAVE ALL IF

3342
01:56:46,333 --> 01:56:47,401
STATES AND U.S. TERRITORIES THAT

3343
01:56:47,401 --> 01:56:49,836
WE CAN SUPPORT.

3344
01:56:49,836 --> 01:56:51,505
YOU HAVE TO BE OVER 18 RIGHT

3345
01:56:51,505 --> 01:56:53,674
NOW.

3346
01:56:53,674 --> 01:56:54,841
THAT'S THE ONLY REQUIREMENT

3347
01:56:54,841 --> 01:56:58,478
TODAY.

3348
01:56:58,478 --> 01:56:59,012
>> ALL RIGHT.

3349
01:56:59,012 --> 01:57:00,781
SO I THINK WE'RE JUST ABOUT

3350
01:57:00,781 --> 01:57:05,052
READY TO CLOSE, AND I WANT TO

3351
01:57:05,052 --> 01:57:06,787
THANK THE SPEAKERS, I WANT TO

3352
01:57:06,787 --> 01:57:09,823
THANK CARRIE, I WANT TO THANK

3353
01:57:09,823 --> 01:57:12,559
MISS COLEMAN, I WANT TO THANK

3354
01:57:12,559 --> 01:57:15,629
DR. TURNER FOR BEING SUCH

3355
01:57:15,629 --> 01:57:18,131
WONDERFUL PRESENTERS HERE AND

3356
01:57:18,131 --> 01:57:21,535
ALL OF THE AUDIENCE HERE IN THE

3357
01:57:21,535 --> 01:57:23,370
ROOM AND ONLINE AS WELL.

3358
01:57:23,370 --> 01:57:26,406
WE DO HAVE SOME COOKIES HERE,

3359
01:57:26,406 --> 01:57:28,709
FOR THOSE WHO ACTUALLY CAME IN

3360
01:57:28,709 --> 01:57:31,345
PERSON, THAT ARE JUST CALLING

3361
01:57:31,345 --> 01:57:34,381
YOUR NAME IF YOU WANT TO HAVE A

3362
01:57:34,381 --> 01:57:35,816
COOKIE BEFORE YOU GO, IF YOU

3363
01:57:35,816 --> 01:57:37,184
HAVEN'T BEEN SCARED OFF BY THAT

3364
01:57:37,184 --> 01:57:38,952
COMMENT ABOUT THE BMI.

3365
01:57:38,952 --> 01:57:42,589
[LAUGHTER]

3366
01:57:42,589 --> 01:57:44,558
BUT -- AND COFFEE, THAT'S RIGHT.

3367
01:57:44,558 --> 01:57:45,892
I THINK WITH THAT, WE'LL CALL TO

3368
01:57:45,892 --> 01:57:46,827
A CLOSE.

3369
01:57:46,827 --> 01:57:47,794
THANK YOU ALL VERY MUCH, AND

3370
01:57:47,794 --> 01:57:48,795
WE'RE VERY MUCH LOOKING FORWARD

3371
01:57:48,795 --> 01:57:50,764
TO NEXT WEEK'S PRESENTATION AS

3372
01:57:50,764 --> 01:57:51,298
WELL.

3373
01:57:51,298 --> 01:58:00,073
[APPLAUSE]