GOOD MORNING, EVERYONE.
AND THANK YOU FOR JOINING US FOR
THIS CLINICAL CENTER RESEARCH
HOSPITAL BOARD MEETING.
I'M NINA SCHOR.
BY DAY I AM THE DEPUTY DIRECTOR
FOR INTRAMURAL RESEARCH NIH,
BUT FOR THE PURPOSE OF THIS
MEETING, I AM THE DESIGNATED
FEDERAL OFFICIAL FOR THIS BOARD.
SO I AM GOING TO BEGIN THE
MEETING BY HANDING THE VIRTUAL
PODIUM OVER TO DR. GILMAN, WHO
HAS SOME VERY SPECIAL REMARKS TO
MAKE.
>> THANKS, NINA.
AND I'M GRATEFUL TO THE BOARD
MEMBERS AND TO YOU, DR. SCHOR,
FOR GIVING ME A FEW MINUTES TO
MEMORIALIZE MY FRIEND AND
COLLEAGUE, DR. COOTS.
I AM GRATEFUL FOR ALL OF THE
EXPRESSIONS OF SYMPATHY PASSED
BY BOARD MEMBERS TO ME AND I
WILL ENSURE THAT AT AN
APPROPRIATE TIME, THEY ARE
PASSED TO DR. COOTS' WIFE AND
CHILDREN.
I FIRST MET HIM IN AUGUST OR
VERY EARLY IN SEPTEMBER OF 2002,
WHEN HE SIGNED IN AT THE ARMY
OFFICE OF THE SURGEON GENERAL,
LOCATED THEN IN FALLS CHURCH,
VIRGINIA.
I HAD SIGNED IN JUST A FEW WEEKS
AHEAD OF HIM, AND WHILE OUR
OFFICES WERE NOT LOCATED IN THE
PENTAGON, THESE WERE PENTAGON
JOBS, EARLY IN THE POST 9/11
TIME FRAME AND THEY WERE
BRUTALLY TAXING.
HE HAD JUST ARRIVED FROM EUROPE,
VAN TOLD ME, AMONG OTHER THINGS,
HE HAD NOT TAKEN ANY LEAVE OR
VACATION TIME IN THE PREVIOUS
YEAR.
HE ALSO TOLD ME THAT ME THAT HEN
THE PROCESS OF GETTING A DIVORCE
AND HE WAS A STUDENT AT THE
DISTANCE EDUCATION PROGRAM, AND
FINALLY, THAT HE WAS ACTIVE IN
THE DERMATOLOGY SECTION OF THE
NATIONAL MEDICAL ASSOCIATION AT
THE NATIONAL PROGRAM LEVEL.
I TOLD HIM I WOULD SEE HIM IN A
MONTH, THAT THE PEOPLE WHO
WORKED FOR ME WOULD NOT LOSE
THEIR LEAVE OR VACATION TIME,
AND HE ONLY HAD 30 DAYS TO USE
HIS 30 DAYS OF LEAVE.
IN SUBSEQUENT MEETINGS, VAN TOLD
ME THAT SOME OF THE FOLKS IN
EUROPE HAD ASKED HIM TO RETURN
TO WORK ON A PROJECT THERE.
IT BECAME VERY APPARENT EARLY ON
THAT EVERYONE LIKED HAVING VAN
ON THEIR TEAM.
DAVID BAUME SENT ME AN EMAIL AND
SAID IN YIDDISH, VAN WAS A
MINSCH.
WHEN EVERYBODY WANTS YOU ON
THEIR TEAM, I WOULD SAY THAT'S A
PRETTY GOOD DEFINITION OF
MINSCH.
VAN HAD DIFFICULTY TURNING THEM
DOWN.
MY ROLE BECAME TRYING TO PROTECT
HIM FROM HIS TENDENCY TO
OVERCOMMIT.
I TOLD HIM TO LET THE FOLKS IN
EUROPE KNOW THAT HE WAS ON MY
TEAM NOW, I WAS HIS COACH, AND
HE COULDN'T PLAY FOR ANYONE ELSE
WITHOUT MYOKAY.
IF VAN HAD TROUBLE SAYING NO, I
WOULD NEED TO DO IT FOR HIM.
THE SPORTS METAPHOR OF THE COACH
AND THE TEAM, THE GREAT TEAM
MEMBER CHARACTERIZED OUR
RELATIONSHIP FOR ALMOST THE NEXT
20 YEARS.
VAN CALLED ME COACH, AND I WAS
PROUD OF THE TITLE, EVEN THOUGH
HE DID NOT REALLY NEED MY HELP
VERY OFTEN.
WE DID AGREE THAT HE PROBABLY
SHOULDN'T REFER TO ME AS COACH
IN CLINICAL CENTER RESEARCH
HOSPITAL BOARD MEETINGS.
I THOUGHT I KNEW VAN PRETTY WELL
AFTER THOSE INITIAL ENCOUNTERS.
I DID KNOW A LOT ABOUT HIM BUT
IT TURNED OUT WE HAD JUST
SCRATCHED THE SURFACE.
I WAS LATER TO LEARN A LOT MORE
ABOUT HIM.
VAN RECEIVED AN APPOINTMENT TO
THE UNITED STATES MILITARY
ACADEMY AT WEST POINT, BUT HE
LEFT WEST POINT AFTER ONE YEAR.
BY THAT TIME, HIS POST COLLEGE
ASPIRATIONS HAD TURNED TO
MEDICINE.
AN HE KNEW HE WOULD NOT BE IN TE
SMALL SELECT GROUP AT THE TOP OF
THE CLASS TO GO STRAIGHT TO
MEDICAL SCHOOL AFTER GRADUATION.
SO HE LEFT WEST POINT AND WENT
TO HOWARD UNIVERSITY.
THERE ARE LOTS OF WEST POINT
GRADUATES WHO BECOME GENERAL
OFFICERS DURING THEIR
DISTINGUISHED CAREERS, BUT VAN
IS THE ONLY WEST POINT DROPOUT I
KNOW OF WHO ACHIEVED THAT
DISTINCTION.
VAN WAS ADMITTED TO MEDICAL
SCHOOL AS AN UNDERGRAD AT HOWARD
BUT DIDN'T SUCCEED IN MEDICAL
SCHOOL IN HIS FIRST ATTEMPT
EITHER.
BUT HE NEVER GAVE UP ON HIS
DREAM OF BECOMING A DOCTOR.
HE KEPT REAPPLYING TO MEDICAL
SCHOOL AND FINALLY WAS ADMITTED
TO THE UNIVERSITY OF OKLAHOMA,
WHERE HE RECEIVED HIS
MEDICAL DEGREE.
VAN DECIDED HE WANTED TO BE A
DERMATOLOGIST, BUT WAS INITIALLY
TURNED DOWN BY ALL OF THE ARMY
TRAINING PROGRAMS IN
DERMATOLOGY.
IT TOOK A TWO-YEAR ASSIGNMENT AS
A GENERAL MEDICAL OFFICER IN
KOREA TO CONVINCE THE ARMY TO
GIVE HIM A TRAINING SLOT.
VAN WAS A MEMBER OF A BE NEF
LBENOVELENORDER, MEMBERSHIP REQM
TO HAVE A LONGITUDAL
RELATIONSHIP WITH A CHARITABLE
CAUSE.
VAN'S CAUSE WAS AN ORPHANAGE IN
MALL DOUGH VA.
HE VISIT THERE HAD OCCASIONALLY
AND SUPPORTED THEM FINANCIALLY,
AND VAN IS THE ONLY MEMBER OF
THE ARMY STAFF WHO COULD SELL
YOU A MALDOVAN CARPET.
HIS MOTHER DIED WHILE HE WAS
WORKING FOR ME, AN EXTRAORDINARY
LIFE OF ACTIVISM AND CAUSES
RELATED TO SOCIAL JUSTICE AND
COMMUNITY ACTIVITIES.
I DECIDED THAT VAN'S TENDENCY TO
OVERCOMMIT CAME FROM HIS MOM.
SHE WAS QUITE A LADY.
I ONLY RECENTLY LEARNED A BIT
ABOUT VAN'S FATHER.
HE, TOO, WAS ACTIVE IN THE
AFRICAN AMERICAN COMMUNITY IN
TULSA, OKLAHOMA.
HIS MEDICAL PRACTICE WAS LOCATED
NEAR THE GREENWOOD AREA OF
TULSA, WHERE ONE OF THE WORST
EPISODES OF RACIAL VIOLENCE IN
OUR NATION'S HISTORY OCCURRED IN
1921.
25 YEARS AFTER THESE HORRIFIC
EVENTS, VAN'S FATHER WAS
INSTRUMENTAL IN THE
ESTABLISHMENT OF A CHAPTER OF
THE URBAN LEAGUE IN TULSA.
SERVICE IS A FAMILY TRAIT.
DOCTORS OFTEN DO NOT MAKE GREAT
MILITARY STAFF OFFICERS, WE ARE
QUITE ACCUSTOMED TO MAKING
DECISIONS WITHOUT BEING
QUESTIONED AND WE SOMETIMES
BRISTLE AT THE IDEA WE SHOULD
HAVE TO DEFEND ANSWERS OF OTHERS
TO THOSE QUESTIONS.
BUT VETTING AND DEFENDING
DECISIONS IS THE CONSTANT
ACTIVITY OF ALL ON THE ARMY
STAFF.
VAN WAS A GREAT STAFF OFFICER,
INCREDIBLY QUICK-MINDED,
CONFIDENT WITHOUT ARROGANCE.
HE POSSESSED WONDERFUL
INTERPERSONAL SKILLS AND HE WAS
A TRULY GIFTED LISTENER.
HE WELCOMED THE INPUT OF OTHERS
AND WAS AS WILLING TO BE A TEAM
MEMBER AS HE WAS TO BE A TEAM
LEADER.
VAN DID STRUGGLE A LITTLE BIT
DURING HIS TIME WORKING FOR ME,
IT TURNED OUT THE DIVORCE DID
NOT REMAIN APPLICABLE.
AMICABLE, BUT IN TRUEFASHION, H.
HE GRADUATED FROM THE ARMY WAR
COLLEGE WITH A MASTER'S DEGREE
IN STRATEGIC STUDIES AND WAS
SUCCESSFUL IN SEVERAL COMMAND
ASSIGNMENTS BEFORE BEING
SELECTED TO BE A GENERAL
OFFICER.
HE FOUND LOVE AGAIN WITH A
LOVELY WOMAN FROM SOUTH AMERICA
NAMED CLAUDIA, ONLY IT WAS
PRONOUNCED CLOUDIA.
LATER IN LIFE THAN MOST OF US,
VAN BECAME A FATHER FOR THE
FIRST TIME TO SON MAX, FOLLOWED
BY DAUGHTER ALEXANDRIA.
VAN AND I RECONNECTED ABOUT THE
TIME HE WAS RETIRING FROM THE
ARMY.
WE COMMUNICATED A TIME OR TWO
WHILE HE WAS LOOKING FOR A
POST-ARMY JOB BUT HE DIDN'T NEED
MY HELP.
I ATTENDED HIS RETIREMENT
CEREMONY AT FORT MYER.
WE HAD INFREQUENT BUT MEANINGFUL
CONTACT DURING HIS EARLY YEARS
AT HOLY CROSS AND MY EARLY YEARS
HERE AT THE CLINICAL CENTER.
I CONFESS THAT WHEN I APPROACHED
VAN THREE YEARS AGO AND ASKED
HIM TO JOIN THE CLINICAL CENTER
RESEARCH HOSPITAL BOARD, I
SHAMELESSLY TOOK ADVANTAGE OF
OUR LONG FRIENDSHIP AND HIS
TENDENCY TO OVERCOMMIT.
BUT IT WAS THE OUTGOING CHAIR OF
THE CLINICAL CENTER RESEARCH
HOSPITAL BOARD, LAURA FERESE,
WHO REALLY PINPOINTED VAN AS THE
BOARD MEMBER SHE THOUGHT SHOULD
BE HER SUCCESSOR.
VAN AGREED WITHOUT RESERVATION.
I HAD A RESERVATION OR TWO
OFFING AN APPEARANCE AS CHAIR.
I CAN ASSURE YOU THAT VAN WOULD
HAVE HELD ME ACCOUNTABLE IF HE
OR THE CCRHB MEMBERS BELIEVED
THE CLINICAL CENTER WAS ENTERING
TROUBLED WATERS.
SINCE THE LAST BOARD MEETING IN
FEBRUARY, I'VE HAD THE CHANCE TO
VISIT WITH VAN IN HIS HOME IN
NORTHERN MONTGOMERY COUNTY
TWICE.
THE CHIEF OF NUTRITION CARE AT
THE NIH CLINICAL CENTER IS A
RECENTLY RETIRED U.S. ARMY
RESERVE COLONEL, AND HE WAS
ASKED TO PARTICIPATE IN A
WEDDING OF ANOTHER MILITARY
OFFICER AND NEEDED A CAVALRY
SABER FOR THE SABER ARCH.
WHEN SHE ASKED I TOLD HER I
DIDN'T HAVE A SABER BUT I WAS
PRETTY SURE I KNEW SOMEONE WHO
DID.
I EMAILED VAN AND HE SAID HE
WOULD BE HAPPY TO LEND ANNIE ONE
OF HIS SABERS, HE JUST HAD TO
FIGURE OUT WHICH ONE.
HE HAD A SELECTION.
I WENT TO VAN'S HOUSE TO PICK IT
UP AND FOR HIM TO SHOW ME HIS
COLLECTION OF MILITARY
MEMORABILIA.
VAN HAD OVER 400 SWORDS FROM ALL
AROUND THE WORLD, AND WHILE
SWORDS SEEMED TO BE HIS
SPECIALTY, HE HAD LOTS AND LOTS
OF OTHER STUFF AS WELL.
ALL ORGANIZED AND DISPLAYED IN
THE LOWER PART OF HIS HOUSE IN A
WAY THAT WAS MUSEUM QUALITY.
VAN KNEW A LOT ABOUT EVERYTHING
IN HIS COLLECTION, AND I HAD A
GREAT TIME LOOKING AT IT ALL.
THE SECOND TIME I WAS IN VAN'S
HOME WAS TO RETURN THE SABER.
IT WAS ON THAT OCCASION WHEN I
LEARNED ABOUT VAN'S DAD FOR THE
FIRST TIME.
VAN'S FATHER DIED WHEN HE WAS
16, BUT MY DAD DIED WHEN I WAS
18.
WE FOUND ONE MORE THING THAT WE
HAD IN COMMON.
WHEN VAN TALKED WITH ME LAST
FALL ABOUT STEPPING DOWN AT HIS
JOB AT HOLY CROSS TO FOCUS ON
HIS HEALTH, I ASKED HIM WHETHER
HE HAD ANY HOBBIES TO PURSUE IN
HIS RETIREMENT.
THAT'S WHEN I HEARD HIM SPEAK
ABOUT HORSEBACK RIDING FOR THE
FIRST TIME.
EVER THE HISTORIAN, HE REMINDED
ME IT WAS THE SAME HOBBY ENJOYED
BY GENERAL GEORGE MARSHAL
THROUGHOUT HIS CAREER.
IF THERE IS ANY CONSOLATION
ABOUT THE MANNER OF HIS DEATH,
IT IS THAT HE WAS DOING
SOMETHING THAT BROUGHT HIM GREAT
PLEASURE.
LAST EVENING, I WATCHED A 45
MINUTE PODCAST IN WHICH VAN
SPOKE AT LENGTH ABOUT HIS CAR
CAREER.
WHEN ASKED HOW HE WOULD WANT TO
BE REMEMBERED, VAN SAID HE WOULD
LIKE TO BE REMEMBERED AS A
PLODDER, SOMEONE WHO
OCCASIONALLY FAILED BUT IN THE
MIDST OF FAILURE, NEVER GAVE UP
ON HIMSELF OR DEPARTED FROM THE
GOALS HE STAPTED FOR HIMSELF.
WHEN GIVEN THE CHANCE, HE WAS
ALWAYS SUCCESSFUL.
I CONTEND THAT HE RECEIVED
SECOND CHANCES BECAUSE OF THE
EXTRAORDINARY PEOPLE SKILLS AND
THE WAY HE TREATED PEOPLE, AS
WAS EVIDENT THROUGHOUT HIS LIFE
AND CAREER.
THANK YOU FOR LETTING ME TELL
YOU ABOUT HOW SPECIAL A PERSON
VAN WAS.
HE WAS A SUPERB LEADER, A GOOD
FRIEND, AND HE WAS A GREAT
RESOURCE TO THE CLINICAL CENTER
FOR THE LAST THREE YEARS.
HE WILL BE GREATLY MISSED BUT
THOSE OF US WHO KNEW HIM WELL
WILL NEVER FORGET.
THANK YOU.
>> THANK YOU SO MUCH FOR THAT
REALLY BEAUTIFUL TRIBUTE, AND MY
CONDOLENCES NOT JUST TO THE
FAMILY OF DR. COOTS, BUT TO THE
BOARD AS WELL.
I KNOW MANY OF YOU WORKED VERY,
VERY CLOSELY WITH VAN FOR MANY
YEARS, AND THIS HAS TO BE A VERY
DIFFICULT TIME FOR THE BOARD.
SO I WILL BEGIN THE MEETING
PROPER AT THIS POINT.
I GUESS I'M SUPPOSED TO DO THIS
WITH THE GAVEL.
YOU CAN TELL I'M UNACCUSTOMED TO
DOING SUCH THINGS.
BUT I WILL -- I WANT TO WELCOME
THOSE OF YOU WHO HAVE ACTUALLY
JOINED US, THOSE IN PERSON,
DR. DAVID CHIN, MR. DAVID BAUM,
AND MISS ANTOINETTE ROYSTER, AND
THOSE WHO ARE PARTICIPATING VIA
ZOOM, MISS STEPHANIE REEL,
DR. DEVASKAR, MR. STEVEN
GOLDSTEIN, AND DR. CRAIG SAMITT.
AND I JUST WANT TO MAKE NOTE OF
THE FACT THAT DRS. CUNNINGHAM
AND FREISCHLAG AND MR. LESLIE
WERE UNABLE TO JOIN US TODAY.
THE OTHER THING I WANT TO
MENTION IS THAT WE OFTEN -- WE
DON'T SEE THEM ON THE SCREEN AND
THEY'RE NOT IN THE ROOM WITH US,
BUT MANY, MANY OF OUR NIH AND
COMMUNITY COLLEAGUES ARE JOINING
US ON VIDEOCAST, AND SO THANK
YOU TO ALL OF YOU, AND WELCOME
TO THE MEETING.
SO WE HAVE A LITTLE BIT OF A
CHANGE IN THE ORDER OF THE
PROGRAM THIS MORNING, AND I'M
VERY PLEASED TO SAY THAT
DR. GEOFFREY GINSBURG IS GOING
TO BE JOINING US, ALTHOUGH HE IS
ON TRAVEL, SO WE ARE VERY, VERY
GRATEFUL TO YOU FOR MAKING TIME
FOR US TODAY.
DR. GINSBURG IS CHIEF MEDICAL
AND SCIENTIFIC OFFICER OF THE
NIH ALL-OF-US RESEARCH PROGRAM,
AND HE'S JOINING US VIA ZOOM,
AND WILL GIVE US AN UPDATE ON
THIS VERY, VERY IMPORTANT AND
INTERESTING PROGRAM.
SO DR. GINSBURG, THE FLOOR IS
YOURS.
>> GREAT.
THANK YOU.
I'M JUST GETTING MY SLIDES SET
UP.
CAN YOU SEE MY PRESENTATION ON
THE SCREEN?
AND CAN YOU HEAR ME OKAY?
>> YES.
YES, VERY GOOD.
>> WONDERFUL.
SO FIRST, THANK YOU, DR. SCHOR
AND ALSO DR. GILMAN FOR HAVING
ME HERE TODAY.
I WANT TO EXPRESS ALSO MY SORROW
FOR YOUR LOSS, AND I WISH ALL OF
YOU PEACE AND HEALING IN THE
DAYS AHEAD.
TODAY I AM HONORED AND DELIGHTED
TO SHARE WITH YOU OUR PROGRESS
ON THE ALL-OF-US RESEARCH
PROGRAM.
AS WELL AS ENCOURAGE YOU TO
THINK ABOUT W ABOUT WAYS THAT WN
COLLABORATE.
I HOPE THAT AS I REVIEW THE
PROGRAM FOR YOU IN THE NEXT FEW
MINUTES, THAT YOU THINK ABOUT
ALL-OF-US AS A PLATFORM ON WHICH
POTENTIALLY THE CLINICAL CENTER
COULD STAND FOR SOME OF THE WORK
THAT IT DOES, THE IMPORTANT WORK
THAT IT DOES.
THE FIRST THING I WANT TO DO IS
COMMENT ON THE POWER OF
LONGITUDAL POPULATION HEALTH
STUDIES.
I'M SURE EVERYBODY HERE
RECOGNIZES THE FRAMINGHAM HEART
STUDY WHICH CELEBRATES THIS YEAR
ITS 76TH ANNIVERSARY, AND THIS
STUDY IS CLEARLY ICONIC.
IT ENROLLED OVER 5,000 MEN AND
WOMEN IN 1948, AND IN JUST 12
YEARS WAS ABLE TO REALLY DISCERN
REALLY IMPORTANT FACTORS OF
RISK, WHICH AS YOU CAN SEE IN
THE LEFT-HAND SIDE IS THE FIRST
TIME THAT THAT TERM APPEARED IN
THE MEDICAL LITERATURE.
FACTORS OF RISK FOR HEART
DISEASE.
THE ASSOCIATION OF TOBACCO USE,
CIGARETTES, WITH INCREASING
RATES OF HEART DISEASE AND
STROKE, THE IMPORTANCE OF
CHOLESTEROL AND HYPERTENSION AS
INCITING FACTORS FOR HEART
DISEASE, AND EVEN DISCERNS SOME
FACTORS THAT MITIGATE THE RISK
OF HEART DISEASE SUCH AS
EXERCISE AND DIET.
AND NOT ONLY WAS THIS STUDY
SEMINAL IN BRINGING THESE
FINDINGS TO THE MEDICAL
LITERATURE, BUT OVER THE LAST
FOUR OR FIVE DECADES, THE
FINDINGS OF THE FRAMINGHAM HEART
STUDY WERE ADOPTED INTO CLINICAL
CARE, CLINICAL GUIDELINES AND
ACTUALLY THEY'RE NOW ROUTINELY
USED IN KALG CALCULATORS IN
ELECTRONIC HEALTH RECORDS AND
ALL OF THIS HAS RESULTED IN A
SIGNIFICANT IMPACT ON PUBLIC
HEALTH WITH DRAMATIC INCREASES
IN THE RATES OF CARDIOVASCULAR
DISEASE, STROKE, MORBIDITY AND
MORTALITY OVER THE LAST 40 TO 50
YEARS.
SO NOW IMAGINE WHAT COULD BE
DONE WITH A MILLION PARTICIPANTS
IN A STUDY THAT IS GOING TO LAST
FOR DECADES, AND THAT IS REALLY
WHAT THE ALL-OF-US RESEARCH
PROGRAM IS COMMITTED TO.
OUR MISSION IS TO ACCELERATE
HEALTH RESEARCH AND MEDICAL
BREAKTHROUGHS, ENABLING
INDIVIDUALIZED PREVENTION,
TREATMENT AND CARE FOR ALL OF
US.
OUR MISSION STATEMENT IS LOWER
CASE, REALLY MEANING TO SIGNIFY
THE RELEVANCE OF THIS PROGRAM TO
THE DIVERSITY OF THE POPULATION
OF THIS COUNTRY.
WE'RE DOING THIS THROUGH
PARTNERSHIPS WITH OUR
PARTICIPANTS, AS I SAID, A GOAL
OF AT LEAST A MILLION, AND I'LL
TELL YOU MORE ABOUT THAT IN A
MOMENT, BUILDING A DATASET THAT
IS NEARLY UNSURPASSED AROUND THE
GLOBE THAT IS ACCESSIBLE TO
RESEARCHERS AND USING THIS AS A
MAGNET FOR RESEARCHERS FROM VERY
DIFFERENT COMMUNITIES,
INTERNATIONALLY NOW, TO REALLY
ACTUALLY HAVE A USE OF OUR DATA
AND HOPEFULLY LEADING TO MEDICAL
BREAKTHROUGHS.
YOU CAN SEE ON THE RIGHT,
DR. BERTAGNOLLI RECENTLY WAS
QUOTED AS SAYING THE PROGRAM'S
RICH AND DIVERSE DATASET IS NOW
A VITAL RESOURCE FOR MEDICAL
RESEARCHERS ACROSS THE NIH, THE
COUNTRY AND INDEED THE WORLD.
AND WE HOPE THAT THAT WILL
OBVIOUSLY CONTINUE.
I WANTED TO GIVE YOU A SNAPSHOT
OF WHAT THE PROGRAM IS
CURRENTLY.
AS YOU CAN SEE, WE'VE NOW, SINCE
2018, ENROLLED AS OF TODAY OVER
815,000 PARTICIPANTS WHO HAVE
CONSENTED.
OVER 450,000 OF WHICH HAVE
PROVIDED THEIR ELECTRONIC HEALTH
RECORD DATA TO THE PROGRAM, AND
ALMOST 600,000 HAVE PROVIDED
BIOSPECIMENS AND I'LL TELL YOU
MORE ABOUT HOW THOSE ARE BEING
USED IN A FEW MOMENTS.
YOU CAN SEE ON THE RIGHT WE'RE
ENROLLING PARTICIPANTS FROM
EVERY STATE IN THE UNION, AS
WELL AS SOME OF THE U.S.
TERRITORIES.
THERE'S A SIGNIFICANT ENROLLMENT
IN THE SOUTHWEST WITH CALIFORNIA
AND ARIZONA LEADING THE WAY AND
IN THE NORTHEAST, WITH NEW YORK,
PENNSYLVANIA AND MASSACHUSETTS
HAVING SIGNIFICANT ENROLLMENT.
THERE'S ALSO GREAT ENROLLMENT
STATISTICS IN THE MID SECTION OF
THE COUNTRY AS WELL AS THE
SOUTHEAST.
I MENTIONED THAT WE ARE VERY
COMMITTED TO PARTICIPANT
DIVERSITY.
AS A MATTER OF FACT, AMONGST OUR
GOALS ARE TO ACHIEVE ENROLLMENT
OF INDIVIDUALS WHO SELF-IDENTIFY
AS NON-WHITE OF ABOUT 50% AND
INDIVIDUALS WHO ARE IN THE
CATEGORY OF UNDERREPRESENTED IN
BIOMEDICAL RESEARCH OF OVER 80%.
SO YOU CAN SEE ON THE LEFT,
WE'RE NOT QUITE AT THE 50% LEVEL
BUT ABOUT 47% CURRENTLY IN OUR
PROGRAM SELF-IDENTIFY AS
NON-WHITE.
AND WE HAVE LOOKED VERY
CAREFULLY AT MEDICAL RESEARCH
STUDIES AND RECOGNIZED THAT
THERE ARE MANY PEOPLE ACROSS THE
COUNTRY WHOSE BACKGROUNDS HAVE
PRECLUDED THEM FROM BEING IN
BIOMEDICAL RESEARCH, NOT ONLY ON
THE BASIS OF RACE AND ETHNICITY
BUT THEIR ACCESS AND UTILIZATION
OF HEALTHCARE, THE EXTREMES OF
AGE, THEIR INCOME LEVELS,
DISABILITY, SEXUAL ORIENTATION,
EDUCATIONAL ACHIEVEMENTS,
WHETHER THEY'RE IN MORE URBAN OR
IN FACT IN RURAL AREAS WHERE
PEOPLE ARE MORE LIKELY TO NEVER
HAVE A CHANCE TO ACCESS A
MEDICAL RESEARCH STUDY.
WE'RE VERY PLEASED TO SAY THAT
USING THIS CATEGORIZATION,
NEARLY 90% OF OUR PARTICIPANTS
HAVE PREVIOUSLY NEVER BEEN IN A
BIOMEDICAL RESEARCH PROGRAM,
CERTAINLY NOTHING OF THIS TYPE.
ON THIS SLIDE, I WANT TO SHARE
WITH YOU THE KINDS OF DATA THAT
WE ARE COLLECTING IN OUR CORE
PROTOCOL.
WE HAVE SEVERAL DIFFERENT DATA
STREAMS WE ASKED PEOPLE AND
PARTICIPANTS TO CONSENT TO
PROVIDE TO US.
I MENTIONED THE ELECTRONIC
HEALTH RECORDS EARLIER WHERE
WE'RE ACCUMULATING HEALTH
RECORDS FROM OVER 25 ELECTRONIC
HEALTH RECORD VENDORS AND WE'VE
BEEN ABLE TO STANDARDIZE THEM
ACCORDING TO THE OMOP DATA MODEL
SO THAT ACHIEVES A SIGNIFICANT
AMOUNT OF HARMONIZATION OVER THE
ELECTRONIC HEALTH RECORD DATA.
OUR PARTICIPANTS ARE ASKED TO
PROVIDE SURVEY INFORMATION,
SELF-REPORTED INFORMATION SINCE
INCEPTION IN 2018, WE'VE
LAUNCHED OVER NINE SURVEYS,
SEVERAL OF WHICH YOU'LL SEE
HERE.
BASIC HEALTH, OVERALL HEALTH,
LIFESTYLE, HEALTHCARE ACCESS AND
UTILIZATION, PERSONAL AND FAMILY
MEDICAL HISTORY, THE SOCIAL
DETERMINANTS OF HEALTH, MENTAL
HEALTH AND WELL-BEING AND AS
I'LL MENTION A LITTLE LATER,
WE'LL BE LAUNCHING A SURVEY ON
OCCUPATIONAL EXPOSURES AND
ENVIRONMENTAL HEALTH IN 2025.
WE ALSO DID A SIGNIFICANT NUMBER
OF SURVEYS DURING THE PANDEMIC
ON THE COVID EXPERIENCE.
THERE WERE AT LEAST SIX OF THOSE
SURVEYS THAT WERE LAUNCHED AND
COMPLETED BY THE PROGRAM.
WHEN INDIVIDUALS ENROLL, WE
REQUIRE STANDARD PHYSICAL --
DAND ADVERTSTANDARDIZED PHYSICAL
MEASUREMENTS, WE COLLECT BLOOD,
URINE AND SALIVA, THE WEARABLE
DATA PREDOMINANTLY FROM FITBITS
BUT MORE AND MORE FROM OTHER
TYPES OF DEVICES PROVIDING US
CONTINUOUS PHENOTYPING BETWEEN
THE EPISODIC DATA COLLECTED IN
THE ELECTRONIC HEALTH RECORDS.
WE'VE RELEASED DATA TO OUR
RESEARCHER COMMUNITY ON A
ROUGHLY YEARLY CADENCE SO WHAT
YOU'RE SEEING HERE IS A SNAPSHOT
OF THE DATA THAT IS AVAILABLE TO
RESEARCHERS AS OF 2023.
OUR NEXT DATA RELEASE WILL BE IN
SEPTEMBER OF THIS YEAR.
SO LAST YEAR AND LAST APRIL, I
JUST WANT TO POINT OUT THESE ARE
ALL CURATED DATA TYPES, THEY GO
THROUGH A PROCESS FROM
ACQUISITION TO CURATION.
I DO WANT TO CALL OUST THE
245,000 OR MORE WHOLE GENOME
SEQUENCES AND OVER 310,000
GENOTYPIC ARRAYS.
THIS IS ONE OF THE LARGEST
ACCESSIBLE STORES OF GENOMIC
DATA IN THE WORLD LINKED TO THE
PHENOTYPES ATTRIBUTABLE TO THE
SURVEY RESPONSES THAT WE'VE
RECEIVED, THE PHYSICAL MEASURES
THAT WE'RE ASCERTAINING AS WELL
AS THE ELECTRONIC HEALTH RECORD
DATA THAT WE HAVE.
IN ADDITION, WE PROVIDE
DERIVATIVE DATA TO OUR
RESEARCHER COMMUNITY.
YOU CAN SEE A STRUCTURAL
VARIANCE DERIVED FROM THE GENOME
SEQUENCING INFORMATION.
THERE'S A TYPE OF GENOME
SEQUENCING CALLED LONG READ
SEQUENCING WHICH IS VERY UNIQUE.
WE ARE COMMITTED TO OVER 20,000
LONG READ SEQUENCE DATASETS.
THE FIRST 1,000 WERE RELEASED
LAST YEAR AND THIS 1,000 IS 100%
FROM INDIVIDUALS THAT IDENTIFY
AS AFRICAN AMERICAN, SO 100% OF
THOSE ARE FROM AFRICAN AMERICAN
INDIVIDUALS, AND THEN FITBIT
DATA I MENTIONED THIS IS ONE OF
THE LARGEST WEARABLE DATASETS
THAT HAS BEEN RELEASED PUBLICLY,
AND WE'RE ALSO PROVIDING
DERIVATIVE DATA ON SLEEP FROM
THE WEARABLE TECHNOLOGY DATA.
IT'S IMPORTANT TO HIGHLIGHT
SOMETHING THAT'S IN THE LOWER
RIGHT-HAND CORNER OF THIS SLIDE,
BECAUSE OF THE DIVERSITY OF THE
POPULATION FROM WHICH WE'RE
GETTING THE GENOME SEQUENCE DATA
OUR DATASET NOW CONTAINS NEARLY
300 MILLION GENETIC VARIANTS
THAT HAVE NEVER BEEN SEEN IN ANY
PUBLIC DATASETS REALLY ASPIRING
TO CLOSE THE GAP IN GENOMIC DATA
THAT IS BIASED TOWARD
INDIVIDUALS OF EUROPEAN ANCESTRY
OR THOSE WHO IDENTIFY AS WHITE
SO THIS IS A REALLY IMPORTANT
ASPECT OF OUR PROGRAM AND WILL
ONLY GROW OVER TIME TO CLOSE
THAT IMPORTANT BIAS GAP.
ONE OF THE OTHER UNIQUE FEATURES
OF THE PROGRAM IS THAT WE'RE
COMMITTED TO RETURN VALUE TO OUR
PARTICIPANTS.
THIS IS PART OF ENGENDERING
TRUST AND BUILDING THE
RELATIONSHIP WITH OUR
PARTICIPANTS THAT I MENTIONED
EARLIER, SO ON THE LEFT-HAND
SIDE, YOU CAN SEE SOME OF THE
TYPES OF VALUE DRIVERS THAT WE
THINK ARE IMPORTANT TO OUR
PARTICIPANTS.
THE INFORMATION FROM THE GENOME
SEQUENCING AND ARRAY, SO GENETIC
INFORMATION, I'LL TELL YOU MORE
ABOUT THAT IN A MOMENT.
WE ALSO GIVE INDIVIDUALS A SENSE
OF HOW THEY COMPARE TO OTHER
INDIVIDUALS IN THE COHORT IN
TERM OF THE WAY THAT THEY ANSWER
SURVEYS OR HOW WHAT'S IN THEIR
ELECTRONIC HEALTH RECORDS IN
TERMS OF SUMMARY DATA.
WE OFFER INDIVIDUALS CHANCES TO
PARTICIPATE IN OTHER RESEARCH
STUDIES, I'LL MENTION THAT ALSO
IN A FEW MOMENTS, AND WE PROVIDE
REGULAR REPORTS ON THE RESEARCH
THAT'S COMING OUT OF THE PROGRAM
TO PARTICIPANTS SO THEY REALLY
UNDERSTAND HOW THEIR DATA IS
CONTRIBUTING TO SCIENCE.
IN TERMS OF THE RETURN OF
GENETIC-RELATED -- GENETIC DATA
TO PARTICIPANTS, WE OFFER TWO
TYPES OF HEALTH-RELATED GENETIC
RESULTS.
WE CALL ONE THE HEREDITARY
DISEASE RISK REPORT, IN WHICH WE
ARE PROVIDING INFORMATION TO
PARTICIPANTS WHO SIGNIFY THEY
WISH TO RECEIVE IT.
INFORMATION ON 59 GENES THAT
HAVE BEEN STATED BY THE AMERICAN
COLLEGE OF MEDICAL GENOMICS AS
BEING ACTIONABLE AND IMPORTANT
FOR HEALTH CONDITIONS.
YOU CAN SEE MANY OF THESE
GENETIC VARIANTS PORTEND THE
RISK OF A VARIETY OF CANCERS, OF
HEART DISEASE, OF HEMOLOGIC
DISORDERS AND THE LIKE AND SOME
RARER DISEASES.
SO THESE 59 GENES ARE REPORTED
AS PART OF OUR HEREDITARY
DISEASE RISK REPORT, AND WE ALSO
HAVE A SECOND RECORD CALLED THE
MEDICINE AND YOUR DNA REPORT.
IN THIS CASE, WE'RE ANALYZING
SEVEN GENES THAT ARE RESPONSIBLE
FOR METABOLIZING THE DRUGS THAT
THE VAST NUMBER OF AMERICANS
WILL TAKE IN THEIR LIFETIME.
THESE ARE DERIVED FROM THE
CLINICAL PHARMACOGENOMICS
IMPLEMENTATION CONSORTIUM
GUIDELINES.
WHEN INDIVIDUALS AGREE TO
RECEIVE THEIR RESULTS, THEY ALSO
CAN SIGN UP FOR A GENETIC
COUNSELING VISIT THAT THE
PROGRAM PROVIDES ACCESS TO
GENETIC COUNSELORS WITH THAT
VISIT BEING EITHER IN ENGLISH OR
SPANISH, AND TO ALLOW FOR THE
UNDERREPRESENTED POPULATIONS IN
OUR COHORT TO HAVE ACCESS TO THE
OPTIMAL INFORMATION TO MANAGE
THEIR HEALTH BASED ON THESE
REPORTS.
THIS IS A SNAPSHOT OF WHAT
PARTICIPANTS MIGHT SEE WHEN WE
RETURN RESULTS.
ON THE LEFT IS A SCREENSHOT OF
OUR HEREDITARY DISEASE RISK
REPORT OF THE 59 -- OF ANY OF
THE 59 GENES ASSOCIATED WITH
HEALTH CONDITIONS.
AND THE ONE YOU SEE ON THIS
SLIDE, THERE'S A REPORT ON THE
BRCA1 GENE AND ITS RELEVANCE TO
BREAST CANCER RISK.
AS YOU CAN SEE AT THE BOTTOM,
WE'VE OFFERED NEARLY 230,000
PEOPLE A CHANCE TO SEE THEIR
GENETIC INFORMATION.
ABOUT 50% OR MORE THAN 50% HAVE
SAID YES AND OVER 100,000 HAVE
ACTUALLY VIEWED THEIR RESULTS.
AND THE DATA SUGGESTS -- SHOWS
US THAT NEARLY 3% OF INDIVIDUALS
WHO GET THEIR GENETIC
INFORMATION ACTUALLY HAVE AN
ACTIONABLE RESULT IN TERMS OF
DISEASE RISK.
SO IF YOU EXTRAPOLATE TO THE
MILLION ON TARGET NUMBER FOR OUR
COHORT, THAT WILL BE 30,000
AMERICANS THAT WILL POTENTIALLY
HAVE RECEIVED INFORMATION THAT
COULD BE USED TO MANAGE THEIR
HEALTH THAT THEY OTHERWISE MIGHT
NOT HAVE SEEN HAD THEY NOT BEEN
IN THE ALL-OF-US RESEARCH
PROGRAM.
IN THE MIDDLE YOU CAN SEE A
REPORT ON PHARMACOGENETIC GENES,
MEDICINE AND YOUR DNA REPORT.
AGAIN ROUGHLY THE SAME NUMBERS
HAVE BEEN OFFERED THE CHOICE TO
SEE THIS, AND HAVE AGREED TO SEE
THESE RESULTS.
BUT IMPORTANTLY, MORE THAN 90%
OF INDIVIDUALS IN OUR POPULATION
AND PROBABLY IN THE U.S.
POPULATION FOR THAT FACT, PEOPLE
IN THE ROOM AND ON THIS CALL,
WILL HAVE AN ACTIONABLE RESULT
FROM PHARMACOGENETIC GENES THAT
COULD BE USED FOR DRUGS THAT
THEY ARE CURRENTLY TAKING OR
DRUGS THAT THEY MIGHT TAKE IN
THE FUTURE.
FINALLY ON THE RIGHT-HAND SIDE,
WE PROVIDE GENETIC ANCESTRY AND
NON-HEALTH TRAITS TO
INDIVIDUALS.
WE STARTED DOING THIS IN 2020
WITH NEARLY 300,000 OFFERED THE
CHOICE, MORE THAN 50% SAYING
YES, AND 170,000 SEEING THE
RESULTS.
WE'RE NOW RETURNING THESE
RESULTS AT A RATE OF 5,000 PER
WEEK, AND HOPE TO CATCH UP WITH
OUR BACKLOG SOMETIME LATER THIS
YEAR OR EARLY NEXT YEAR.
ONE OF THE OTHER THINGS ABOUT
RETURN OF RESULTS THAT WE'RE
VERY INTERESTED IN IS UNDER AND
STING WINTERESTED IN LEARNING WO
PARTICIPANTS DO WITH THEIR
RESULTS ONCE THEY RECEIVE THEM.
SO WE'RE DEVELOPING AN OUTCOMES
RESEARCH AGENDA DOWNSTREAM OF
RETURN OF RESULTS IN WHICH WE
ARE AIMING TO UNDERSTAND FIRST
OF ALL DO OUR PARTICIPANTS
ACTUALLY UNDERSTAND THEIR
RESULTS, DO THEY SHARE THESE
DATA AND INFORMATION WITH THEIR
FAMILY MEMBERS, WITH THEIR
HEALTHCARE PROVIDERS, DOES IT
CHANGE ANY OF THEIR PERSONAL
HEALTH DECISIONS, DOES IT CHANGE
THE WAY THEY'RE BEING MANAGED BY
THEIR HEALTH PROVIDER, ARE THERE
ANY DOWNSTREAM FOLLOW-UP TESTS
THAT THEY HAVE, DOES IT IMPACT
HEALTHCARE UTILIZATION AS WELL
AS THE ECONOMICS OF HEALTHCARE
EVENTUALLY IS SOMETHING THAT IS
REALLY IN OUR SIGHTS.
I'D LIKE TO SHARE SOME EARLY
ASPECTS OF THE SCIENTIFIC IMPACT
OF THE ALL-OF-US RESEARCH
PROGRAM.
THE FIRST PAPER FROM THE PROGRAM
DATA WAS PUBLISHED AROUND 2019,
SO MAYBE A YEAR OR SO AFTER WE
ACHIEVED LAUNCH.
AS YOU CAN SEE ON THE RIGHT,
WE'RE IN THE HOCKEY STICK PART
OF THE PUBLICATION CURVE IF YOU
WILL WITH NEARLY 500
PUBLICATIONS TO DATE.
THIS YEAR I'M GOING TO GUESS IT
WILL BE CLOSE TO 8 OR 900
PUBLICATIONS FROM OUR DATA
SOMETIME BY THE END OF 2024, SO
A REAL GEOMETRIC GROWTH IN
PUBLICATIONS AND ON THE LEFT IS
JUST A VERY BRIEF SNAPSHOT OF
THE KINDS OF PAPERS THAT ARE NOW
BEING GENERATED FROM OUR DATA.
SOME OF YOU MAY BE AWARE IN THE
UPPER LEFT-HAND CORNER OF THE
APOL1 STORY, IN AFRICAN
AMERICANS WITH CHRONIC KIDNEY
DISEASE AND DATA FROM THE
PROGRAM HAS ELUCIDATED
PROTECTIVE GENETIC VARIANTS THAT
EXIST IN THE APO1 GENE THAT
COULD POTENTIALLY BE USED AS
DRUG TARGETS TO MITIGATE THE
RISK OF CHRONIC KIDNEY DISEASE
IN AFRICAN AMERICANS.
THERE'S ALSO A DEPTH OF RESEARCH
IN GENETIC VARIATION ACROSS
INDIVIDUALS FROM NON-EUROPEAN
ANCESTRIES, BUT THE GENE
INVOLVED IN CARDIOVASCULAR
DISEASE.
EVEN IF YOU LOOK AT THE ONE IN
THE LOWER RIGHT-HAND CURVE, THE
UTILITY OF FITBIT DATA TO
UNDERSTAND HOW STEP COUNTS CAN
ACTUALLY MITIGATE MOST
INCIDENCES OF CHRONIC DISEASES
USING ELECTRONIC HEALTH RECORD
DATA HAS BEEN PUBLISHED.
AND THESE ARE SLOWLY MAKING --
SOME OF THESE DATA ARE SLOWLY
MAKING THEIR WAY INTO CLINICAL
USE AND TO CLINICAL GUIDELINES,
WHICH I THINK WILL BE A VERY
DEMONSTRABLE IMPACT OF THE
PROGRAM.
I ALSO WANTED TO SHARE WITH YOU
ANOTHER AREA WHICH WE SEE AS
STRATEGIC AND IMPORTANT FOR THE
FUTURE OF THE PROGRAM, AND THAT
IS THE POTENTIAL IMPACT OF THE
ALL-OF-US DATA AND THE ALL-OF-US
PROGRAM AS A PLATFORM FOR
ENROLLMENT IN CLINICAL TRIAL.
SO WHAT YOU SEE HERE IS A PAPER
PUBLISHED EARLIER THIS YEAR IN
JAMIA, WHICH IS A PHENOTYPE-WIDE
ASSOCIATION STUDY USING
ALL-OF-US ELECTRONIC HEALTH
RECORD DATA, FEATURES OF DISEASE
THAT INDIVIDUALS IN OUR PROGRAM
HAVE MANIFEST, THAT HAS BEEN
DONE ACROSS 18,600 CLINICAL
TRIALS IN CLINICALTRIALS.GOV
USING ATTRIBUTES OF THE FEATURES
OF ENROLLMENT, INCLUSION AND
EXCLUSION CRITERIA, TO MAP THE
FEATURES OF THE ALL-OF-US
PHENOTYPES ON TO THE CLINICAL
TRIALS THAT ARE IN
CLINICALTRIALS.GOV.
SO WHAT YOU CAN SEE IN THIS --
WE CALL THIS IS MANHATTAN PLOT,
BUT WHAT YOU SEE IS THERE ARE A
PREPONDERANCE OF INDIVIDUALS
THAT WOULD BE ALIGNED WITH
CLINICAL TRIALS FOR MENTAL
HEALTH DISORDERS, FOR ANXIETY,
MAJOR DEPRESSION AND DEPRESSION,
FOR CANCER TRIALS AS YOU CAN SEE
ON THE LEFT-HAND SIDE, TRIALS
THAT ARE ENROLLING INDIVIDUALS
WITH PAIN OR OTHER KRON
CONDITIONS. CHRONIC
CONDITIONS.
SO WHILE WE HAVEN'T OPENED, I
THINK THE DATA THAT'S IN THIS
SLIDE REALLY PORE TENDS THE
POTENTIAL VALUE OF ACCELERATED
ENROLLMENT IN CLINICAL TRIALS
USING THE FEATURES, CLINICAL,
POTENTIALLY EVEN GENETIC
FEATURES OF INDIVIDUALS IN THE
PROGRAM TO BE RECRUITED INTO
NATIONAL CLINICAL TRIALS BOTH AT
THE NIH AND AS WELL AS OUTSIDE.
SO I WANTED TO ALSO TELL YOU A
LITTLE BIT WHERE WE'RE HEADED
SCIENTIFICALLY OVER THE NEXT
SEVERAL YEARS.
SO ONE OF THE MAJOR STRATEGIES
FOR THE PROGRAM IS SOMETHING WE
CALL ABC LA ANCILLARY STUDIES, Y
THAT ADDS A NEW STRATEGIC DATA
TYPE TO THE CORE DATA OF THE
PROGRAM.
SO THE TRIANGLE ON THE LEFT IS
MEANT TO ILLUSTRATE IN THE DARK
BLUE, THAT'S THE CORE DATASET
THAT I SHOWED YOU IN AN EARLIER
SLIDE, AND THEN AS WE DO
ANCILLARY STUDIES, WE GENERATE
DATA THAT IS SEQUENTIALLY ADDED
TO THE CORE DATA AND ACCESSIBLE
TO THE RESEARCHER COMMUNITY.
ILLUSTRATED HERE ARE THREE
ANCILLARY STUDIES THAT HAVE
EITHER BEEN COMPLETED OR ARE
UNDERWAY WITH DIFFERING DEGREES
OF COMPLEXITY.
SO DURING THE -- JUST AFTER THE
PANDEMIC, I SHOULD SAY, WE
ACCESSED THE BIOSPECIMENS IN OUR
BIOREPOSITORY TO DO A COVID
SEROLOGY STUDY WHICH HAPPENED TO
SHOW THAT THE SARS-COV-2 VIRUS
AT LEAST ANTIBODIES FOR THOSE IN
OUR COHORT WHO WERE PRESENT IN
2019 WELL BEFORE THE CDC
DECLARED THAT VIRUS WAS -- HAD
REACHED A PANDEMIC IN THE UNITED
STATES.
THE NEXT ONE CALLED EXPLORING
THE MIND IS A STUDY THAT WE'RE
DOING WITH THE NATIONAL
INSTITUTE OF MENTAL HEALTH USING
AN APP-BASED PLATFORM FOR
COGNITIVE TESTING OF
PARTICIPANTS.
NEARLY 200,000 PEOPLE HAVE
COMPLETED THE EXPLORING THE MIND
ANCILLARY STUDY AND THAT DATA IS
MOVING SLOWLY INTO OUR DATA
REPOSITORY ACCESSIBLE TO
RESEARCHERS.
AND MAYBE ONE THAT YOU'VE HEARD
OF BECAUSE ON THE RIGHT YOU
MIGHT NOTICE THAT'S A SNAPSHOT
OF A VIDEO FROM "GOOD MORNING
AMERICA" RECENTLY FEATURED ON
"GOOD MORNING AMERICA," WAS THE
NUTRITION FOR PRECISION HEALTH.
THIS IS A COMMON FUND SUPPORTED
STUDY AS WELL AS A STUDY THAT IS
USING SUPPORT FROM ABOUT 16
INSTITUTES AND CENTERS WHICH IS
ENROLLING 10,000 INDIVIDUALS TO
DO EXTENSIVE STUDIES ON DIET
WITH THE GOAL TO DEVELOP
ALGORITHMS THAT WILL PREDICT THE
NUTRITIONAL IMPACT ON
INDIVIDUALS, REALLY TAKING AI
AND MULTIPLE MEASURES WHETHER IT
COMES TO DIETARY INTAKE AND
OUTPUT TO BETTER PERSONALIZE
DIETARY RECOMMENDATIONS FOR
INDIVIDUALS.
THIS IS CALLED NUTRITION FOR
PRECISION HEALTH, AND THAT STUDY
WILL LIKELY BE COMPLETED IN 2026
OR 2027.
IT'S CLEARLY ONE OF THE LARGEST
DIETARY STUDIES EVER LAUNCHED
ACROSS THE GLOBE AND HOPEFULLY
WILL GARNER REALLY IMPORTANT
INSIGHTS FOR INDIVIDUALS IN
TERMS OF FOOD INTAKE AND HEALTH
AS A RESULT OF THIS STUDY.
ANOTHER AREA WE'RE SUPER
INTERESTED IN IS THE AREA OF
CLIMATE AND ENVIRONMENT ON
HEALTH AND DISEASE, AND WE'RE
WORKING VERY CLOSELY WITH THE
NATIONAL INSTITUTE OF
ENVIRONMENTAL HEALTH SCIENCES.
THIS IS A COMPLICATED SLIDE.
FIRST THING WE'RE DOING IS WE'RE
ESTABLISHING LINKAGES TO
ENVIRONMENTAL DATA STARTING WITH
THE CDC'S ENVIRONMENTAL JUSTICE
INDEX TO INDIVIDUALS IN THE
ALL-OF-US RESEARCH PROGRAM USING
GEOCODES, THREE DIGIT AND
EVENTUALLY FIVE DIGIT ZIP CODE
INFORMATION.
IN ADDITION I MENTIONED WE
ACQUIRED DATA ON SOCIAL
DETERMINANTS OF HEALTH, WHICH WE
VIEW AS A REALLY IMPORTANT
ENVIRONMENTAL EXPOSURE THAT
COULD IMPACT HEALTH AND DISEASE.
ABOUT 150,000 PEOPLE HAVE
COMPLETED THE SOCIAL
DETERMINANTS OF HEALTH SURVEY
INSTRUMENT WHICH IS STILL OUT
THERE AND BEING ANSWERED.
I MENTIONED EARLIER WE WILL
LAUNCH AN ENVIRONMENTAL EXPOSURE
AND OCCUPATIONAL HEALTH SURVEY
IN 2025.
SO THAT'S THE FOUNDATIONAL DATA
IN THE COHORT.
EVENTUALLY WE WILL BE USING THE
GEOCODING AN GIS DATA TO LINK TO
ANOTHER PUBLICLY AVAILABLE
DATASETS THAT CLEARLY WILL HAVE
IMPACT ON INDIVIDUALS IN TERMS
OF EXPOSURES AND POTENTIALLY ON
HEALTH OUTCOMES, SO THAT'S
WHAT'S ILLUSTRATED IN THE
MIDDLE, AND AGAIN, THAT'S WORK
THAT'S BEING DONE VERY CLOSELY
WITH THE NATIONAL INSTITUTE OF
ENVIRONMENTAL HEALTH SCIENCES.
THEN ON THE RIGHT IS A SAMPLING
STUDY.
WHAT WE CALL EXPOSE OMICS AND
HEALTH, A SNAPSHOT OF THE
METABALOME, THE METABOLITES IN
BLOOD USING HIGH RESOLUTION MASS
SPECTROSCOPY, AND WE'RE STARTING
OFF WITH A PILOT STUDY IN
INDIVIDUALS WITH INCIDENT TYPE E
EXPOSOME OR THE METABOLITES THAT
WE MEASURE IN THESE SAMPLES ARE
CORRELATING WITH THE EXPOSURES
THAT THEY'VE HAD AND INCIDENCE
OF DISEASE THEY WILL SEE
SOMETIME IN THE FUTURE.
WE'RE HOPING TO EXPAND THIS
BEYOND TYPE 2 DIABETES TO OTHER
MAJOR CAUSES OF MORBIDITY AND
MORTALITY AND REALLY LEARNING
HOW THE ENVIRONMENT AND CLIMATE
ARE INFLUENCING THE INCIDENCE OF
THESE DISEASES AND HOPEFULLY
DEVELOPING POLICIES AND RISK
MITIGATION STRATEGIES TO PREVENT
THEM GOING FORWARD.
THIS SLIDE IS REALLY MEANT TO
ILLUSTRATE THE PIPELINE OF
ANCILLARY STUDIES THAT WE'RE IN
THE PROCESS OF EVALUATING OR
ACTUALLY DOING WITH OTHER NIH
INSTITUTES, CENTERS AND OFFICES.
SO I MENTIONED ON THE RIGHT THE
COVID SEROL, OH GY STUDY, THE
NUTRITION FORM -- THE ONE I WANT
TO HIGHLIGHT FOR YOU TODAY IS
THE GENOTYPE TO PHENOTYPE STUDY
WHICH IS BEING DONE AT THE
CLINICAL CENTER WITH
INVESTIGATORS FROM NHGRI THIS IS
BEING CHAMPIONED BY LES BISIKER,
TO LEARN HOW INDIVIDUALS WITH
PARTICULAR GENETIC BACKGROUNDS
EXPRESS PHENOTYPES ACROSS A
NUMBER OF DIFFERENT PHENOTYPES,
AREAS OF INVESTIGATION THAT THE
CLINICAL CENTER WILL OFFER.
ONE AREA OF SUPER IMPORTANCE TO
US IS TO UNDERSTAND WHAT WE CALL
LOSS OF FUNCTION VARIANTS.
THESE ARE GENETIC VARIANTS THAT
ELIMINATE OR REDUCE
SIGNIFICANTLY THE FUNCTION OF
THE GENES THAT THEY RESIDE IN.
THERE ARE INDIVIDUALS THAT HAVE
LOSS OF FUNCTION VARIANTS THAT
APPEAR TO BE COMPLETELY HEALTHY.
THAT'S AN INTERESTING GROUP FOR
US TO INVESTIGATE AND THERE ARE
INDIVIDUALS THAT HAVE LOSS OF
FUNCTION VARIANCE THAT MAY HAVE
BEEN MISDIAGNOSED BECAUSE THE
GENETIC VARIATION IS SO RARE.
SO WE'RE HOPING TO BRING PEOPLE
INTO THE CLINICAL CENTER WITH
PARTICULAR GENOTYPES AND REALLY
DO AN EXTENSIVE PHENOTYPIC
EVALUATION.
WE'RE ALSO COMMITTED TO DOING
THIS ACROSS THE DIVERSITY OF
RESEARCH PARTICIPANTS AND, AS I
MENTIONED, INDIVIDUALS WHO
APPEAR OTHERWISE HEL THREE BUT
HAVE DELETERIOUS GENETIC
BACKGROUNDS, BUT WE' MAYBE AN
EXAMPLE OF THE KIND OF WORK THAT
MIGHT GO ON IN THIS STUDY.
THIS IS AN EXAMPLE FROM A GENE
CALLED THE AB15 GENE, IF YOU
LOOK AT INDIVIDUALS WHO
ESSENTIALLY HAVE NO
FUNCTIONALITY OF THAT GENE
ACROSS THEIR ELECTRONIC HEALTH
WORD.
THIS IS ALSO A PHEWAS STUDY
ASKING THE QUESTION WHAT
CLINICAL KNEE TOURS IN THE
ELECTRONIC MEDICAL RECORD ARE
ASSOCIATED WITH THE LOSS OF
FUNCTION OF THIS GENE.
YOU CAN SEE THAT IT SPANS A
SPECTRUM OF POSSIBLE PHENOTYPES
FROM METABOLIC DISEASE TO
VASCULAR DISEASE TO NEPHROLOGY
AND EVEN NEUROLOGIC DISEASE.
THIS GENE WAS ORIGINALLY
DISCOVERED AS A GENE FOR LIPID
METABOLISM, SO CLEARLY IT HAS
THE POTENTIAL TO HAVE OTHER
IMPACTS OUTSIDE OF THE AREA
WHICH IT WAS ORIGINALLY
DISCOVERS SO THIS WAS IN OUR
MINDS ONE OF THE REALLY
IMPORTANT WAYS THAT THE CLINICAL
CENTER CAN MEDIATE OUR
UNDERSTANDING OF THE
RELATIONSHIP BETWEEN GENOTYPES
AND PHENOTYPES.
AGAIN I'M NOT SURE PEOPLE WITH
THIS PARTICULAR GENETIC
BACKGROUND WILL BE SELECTED FOR
THIS STUDY, BUT I JUST WANTED TO
HIGHLIGHT THIS IS HOW WE USE THE
PHEWAS STUDIES TO BEGIN TO MATCH
THE WAY THE CLINICAL CENTER
WOULD EVALUATE INDIVIDUALS WITH
THE INFORMATION WE HAVE FROM
THEIR ELECTRONIC HEALTH RECORDS.
I MENTIONED RESILIENCE.
I WANTED TO JUST HIGHLIGHT THE
FACT THAT THERE ARE A LOT OF
PEOPLE AS THIS STUDY FROM 2016
ILLUSTRATES THAT HARBOR GENETIC
BACKGROUNDS THAT MAY HAVE BEEN
SO DELETERIOUS, THEY SHOULDN'T
EVEN BE ALIVE, OR THEY SHOULD
HAVE VERY PROFOUND SYNDROMES
THAT THEY DON'T HAVE.
SO WE KNOW THAT THERE ARE
GENETICS THAT COUNTER THE
DELETERIOUS EFFECTS OF GENETIC
BACKGROUNDS, SO THAT'S GENETIC
RESILIENCE.
AS A MATTER OF FACT, IF YOU WERE
READING THE NEWS IN THE LAST FEW
DAYS AND MAYBE READING THE NEW
ENGLAND JOURNAL, YOU MAY HAVE
SEEN A PAPER THAT HIGHLIGHTED
THE APOE 3 GENE, IT'S CALLED THE
APOE 3 CHRIST CHURCH VARIANT IN
ALZHEIMER'S DISEASE, INDIVIDUALS
WHO HARBOR THAT VARIANT ACTUALLY
DO NOT DEVELOP ALZHEIMER'S
DISEASE AT THE SAME CADENCE AS
INDIVIDUALS FROM -- AS
INDIVIDUALS WHO DO NOT HAVE THAT
VARIANT, SO THERE ARE DEFINITELY
PROTECTIVE ALLELES AND GENES
THAT CAN BE BETTER UNDERSTOOD.
I THINK THE CLINICAL CENTERS
DEPTH OF PHENOTYPIC EVALUATIONS
IN INDIVIDUALS THAT APPEAR TO BE
RESILIENT WILL GIVE US, I THINK,
NUANCED INSIGHTS INTO THOSE
PHENOTYPES BECAUSE OF THE
CLINICAL TESTING THAT THEY WILL
DO AT THE CLINICAL CENTER.
SO JUST IN CLOSING, I THOUGHT
I'D OPEN UP YOUR -- OPEN THIS UP
FOR DISCUSSION, OF COURSE, BUT I
FEEL LIKE THERE ARE A NUMBER OF
OPPORTUNITIES FOR THE CLINICAL
CENTER AND ALL-OF-US TO PARTNER.
I'VE ALREADY MENTIONED THE
ANCILLARY STUDIES, WE'RE DOING
THE GENOTYPE TO PHENOTYPE STUDY
WITH NHGRI.
THERE'S ALSO CONTINUING WORK IN
THE GENETICS OF UNDIAGNOSED
DISEASES THAT CAN BE DONE AND
PARTICULARLY WITH THE RARE
DISEASE COMMUNITY AND THERE ARE
RARE DISEASE PARTICIPANTS IN OUR
DATASET.
WE ALSO ENVISION THE POSSIBILITY
OF CO-ENROLLMENT WITH CLINICAL
CENTER LED CLINICAL TRIALS AND
STUDIES, SO INDIVIDUALS COMING
INTO A CLINICAL CENTER STUDY
WOULD BE JOINTLY RECRUITED INTO
ALL-OF-US.
THAT WOULD GIVE THE CLINICAL
CENTER RESEARCHERS ACCESS TO
ALL-OF-US DATA THAT MIGHT
AUGMENT THE DATA THAT THEY'RE
ALREADY COLLECTING IN TERMS OF
SEQUENCING, SOCIAL DETERMINANTS
OF HEALTH, MANY OF THE OTHER
FEATURES OF THE ALL-OF-US
DATASET THAT I'VE TALKED TO YOU
ABOUT.
SO HOPEFULLY THAT'S ONE AREA
THAT WE WILL WORK ON WITH
INVESTIGATORS IN THE CLINICAL
CENTER, BUT ALSO AS PEOPLE LEAVE
THE CLINICAL CENTER IF THEY HAVE
ENROLLED IN ALL-OF-US, AND IF
THEY DO HAPPEN TO HAVE A RARE
DISEASE DIAGNOSIS, WE'LL BE IN A
GREAT POSITION, I THINK, TO
UNDERSTAND THE NATURAL HISTORY
OF THAT DISEASE IN THE LONG TERM
BY PROVIDING THE LONGITUDAL
FOLLOW-UP IN TANDEM WITH WHAT
THE CLINICAL CENTER IS DOING SO
THAT WE HAVE A BETTER
UNDERSTANDING OF HOW THESE RARE
DISEASES PLAY OUT OVER TIME AND
WHAT THE IMPACTS ARE OF
THERAPEUTIC OPTIONS THAT ARE
OFFERED TO PATIENTS WHEN THEY
COME THERE.
THEN FINALLY I THINK FOR ME,
THERE ARE OPPORTUNITIES TO
PARTNER IN INTRAMURAL RESEARCH.
WE HOPE THE ALL-OF-US DATASET
CAN PROVIDE A BASIS FOR TRAINING
EARLY STAGE INVESTIGATORS AND
OTHER TRAINEES THAT ARE COMING
THROUGH THE CLINICAL CENTER.
WE FEEL LIKE WE'VE DEVELOPED
SOME BEST PRACTICES,
PARTICULARLY WITH PARTICIPANT
ENGAGEMENT INCLUDING THE
PARTICIPANT VOICE IN THE WAY WE
DESIGN STUDIES.
AND THEN FINALLY, AS WE'VE GONE
DOWN THIS ROAD OF RETURNING
RESULTS TO PARTICIPANTS, WE FEEL
LIKE WE'RE UNIQUELY POSITIONED
TO UNDERSTAND HOW TO DO THIS AT
SCALE.
I'M SURE THE CLINICAL CENTER
TEAMS ARE RETURNING RESULTS TO
PATIENTS ALL THE TIME, BUT MAYBE
THERE'S SOME JOINT LEARNINGS
THERE THAT WE CAN WORK ON
TOGETHER AND IMPROVE THE WAY WE
DELIVER VALUE TO PATIENTS AND
PARTICIPANTS.
WITH THAT, I'LL STOP SHARING AND
MAYBE OPEN IT UP FOR SOME
QUESTIONS IF THERE'S SOME TIME
FOR THAT.
>> GREAT.
THANK YOU SO MUCH, AND AGAIN,
THANK YOU FOR TAKING TIME TO BE
WITH US WHILE YOU'RE TRAVELING.
DR. DEVASKAR, I SEE YOU HAVE A
QUESTION.
>> YES.
AM I HEARD?
CAN YOU HEAR ME?
>> YES.
>> THANK YOU.
THANK YOU, DR. GINSBURG.
THAT WAS A VERY IMPORTANT STUDY.
I GUESS MY QUESTION IS, I
THOUGHT THEY WERE GOING TO BE
ENROLLING 100,000 CHILDREN INTO
ALL-OF-US BECAUSE THEY'RE GOING
TO BE THE FUTURE POPULATION AND
THERE'S A LOT OF VARIANTS OF
UNKNOWN SIGNIFICANCE THAT HAS
PICKED UP IN CHILDREN.
I JUST WONDERED IF YOU COULD
SHED SOME LIGHT ON THAT.
THANK YOU.
>> ABSOLUTELY.
OUR PEDIATRIC PROTOCOL HAS BEEN
DEVELOPED.
WE ENROLLED 16 -- I KNOW THAT'S
A SMALL NUMBER -- JUST TO MAKE
SURE THAT EVERYTHING WAS WORKING
OKAY, SO WE HAVE 16 PEDIATRIC
PARTICIPANTS.
WE'VE RECRUITED SARAH VAN DREES
FROM VANDERBILT, DIRECTOR OF
PEDIATRICS.
OUR GOAL IS MORE THAN 100,000.
WE'D LIKE TO SEE CLOSER TO
150,000 STARTING WITH ZERO TO
6 YEARS OF AGE AS THE FIRST
COHORT, AND THEN GOING FROM 7 TO
13 AND THEN 13 TO 17.
SO ALL THAT -- THE STAGE IS SET
FOR THAT.
THE BIGGEST CHALLENGE WE HAVE
RIGHT NOW IS THE BUDGET.
I'LL JUST BE HONEST WITH YOU,
BECAUSE ON MARCH 22ND, WHEN THE
2024 BUDGET WAS PASSED,
ALL-OF-US RECEIVED A 34% BUDGET
CUT.
AND WE MAY BE LOOKING AT AN EVEN
GREATER BUDGET CUT FOR 2025.
SO WE FEEL THAT WE WANT TO
LAUNCH OUR PEDIATRIC -- WE'RE
READY, WHEN WE FEEL LIKE WE HAVE
THE RESOURCES TO COMPLETE THE
GOAL OF 100,000 OR MORE, THAT'S
WHEN WE'LL LAUNCH.
WE'RE VERY HOPEFUL THAT IN 2025
AND 2026, WE'LL BE POSITIONED TO
DO THIS AT THE SCALE THAT WE
WISH TO, BUT WE DON'T WANT TO
INITIATE A PROTOCOL THAT WE'LL
HAVE TO STOP, AND WE WANT TO
MAKE SURE WE HAVE THE FINANCIAL
BACKING IN ORDER TO DO SO.
SO WE'RE CAUTIOUSLY OPTIMISTIC
THAT WILL BE THE CASE.
LIKE I SAID THE PROTOCOL HAS
BEEN DESIGNED, MANY OF THE
SCIENTIFIC FEATURES ARE THERE,
AND WE'VE EVEN ENGAGED A NUMBER
OF SITES ACROSS THE COUNTRY THAT
ARE READY TO HELP US DO THAT
RECRUITMENT SO WE SHARE YOUR
VISION THAT THE EARLY CHILDHOOD
EXPOSURES ARE GOING TO DETERMINE
A LOT OF WHAT HAPPENS IN
ADULTHOOD, AND WE WANT TO BE AT
THE VANGUARD OF DEFINING THOSE
IF WE CAN.
>> THANK YOU.
>> MISS REEL?
>> THANK YOU, DR. SCHOR.
THANKS, DR. GINSBURG.
IT WAS AMAZING, YOUR
PRESENTATION WAS JUST
INCREDIBLE.
AND I'M GOING TO ASK SORT OF A
MUNDANE QUESTION, I THINK, BUT A
LITTLE ABOUT LOGISTICS.
WHEN THE NEWS BROKE THIS WEEK
ABOUT THE CHRIST CHURCH VARIANT,
IS THERE A TEAM OF INVESTIGATORS
WHO ARE WORKING WITH YOU AND
WITH THIS PROGRAM AND SUDDENLY
RESPOND OR REACT OR COME
TOGETHER AND SAY THIS IS
INCREDIBLE, LET'S WORK HARDER ON
THIS, OR HOW DO YOU MOBILIZE THE
TEAM TO REACT OR RESPOND TO
SOMETHING THAT IS NEWLY
DISCOVERED, OR NEWLY PUBLISHED
MAYBE?
>> IT'S A FANTASTIC QUESTION.
SO FIRST, I DIDN'T SAY THIS BUT
MAYBE IT'S CLEAR THAT WE DO NOT
CARRY OUT RESEARCH INSIDE THE
NIH ON THE PROGRAM, BUT WE'VE
MADE THIS REPOSITORY OF DATA
PUBLICLY ACCESSIBLE.
I DIDN'T MENTION THIS BUT WE
HAVE NOW, AS OF THIS WEEK, CLOSE
TO 12,000 RESEARCHERS WORKING ON
THE DATA FROM NOT JUST THE
UNITED STATES BUT ACTUALLY IN
SIX CONTINENTS ACROSS THE GLOBE
NOWT WITH INTERNATIONAL ACCESS.
SO THE QUESTION IS, SINCE WE'RE
NOT THE ONES CARRYING OUT THE
RESEARCH, HOW DO HE WITH
MOBWE MOBILIZE THEINDIVIDUALS WR
COMMUNITY, AND THERE ARE A
NUMBER OF WAYS WE'VE DONE THIS
IN THE PAST.
NOT NECESSARILY ON THE
PUBLICATION THIS WEEK, BUT WE
HAVE A SCIENTIFIC ROAD MAP.
MY ROLE IN JOINING THE PROGRAM
AS CHIEF MEDICAL AND SCIENTIFIC
OFFICER WAS TO DEVISE A
SCIENTIFIC STRATEGY, AND WE'VE
BEEN LAUNCHING ELEMENTS OF THAT
STRATEGY PERIODICALLY THROUGH
OUR COMMUNICATIONS TO THE
RESEARCHER COMMUNITY AND WE HAVE
AN ACTIVE NEWSLETTER, WE HAVE A
WEBSITE, WE HAVE OTHER
STANDARDIZED WAYS OF
COMMUNICATING.
AS WELL AS WE WORK WITH OTHER
NIH INSTITUTES AND CENTERS AND
PUT ALL-OF-US LANGUAGE INTO
THEIR REQUEST FOR APPLICATION.
AND SOMETIMES IT'S VERY GENERAL,
LAKE WE HAVE A LARGE DATASET, IF
YOU'RE INTERESTED IN HEART
DISEASE AND YOU'RE APPLYING TO
AN NHLBI CALL, HOPEFULLY YOU'LL
USE THE ALL-OF-US DATA.
BUT IN SOME CASES LIKE THE ONE
YOU MENTIONED WHERE WE CAN
INSERT LANGUAGE THAT REALLY
SPECIFIES AN INTEREST IN CAN YOU
REPLICATE THIS, CAN YOU SHOW US
IN MORE THAN WHAT THIS
PARTICULAR PUBLICATION IS
SEEING.
I HAPPEN TO THINK THAT LOOKING
AT THE DATA FROM OUR -- OF WHAT
PEOPLE ARE DOING AT THE
WORKBENCH, OUR RESEARCH
COMMUNITY RAPIDLY RESPONDS ON
ITS OWN, DOESN'T TAKE A LOT TO
MOTIVATE THEM.
BUT WE CAN ALSO -- WE DO PUSHES
OF THE TYPE I MENTIONED TO
INSTIGATE RESEARCH AND CATALYZE
RESEARCH ALONG THE LINES OF
AREAS THAT WE REALLY WANT TO SEE
EXPANDED.
SO IT A PORTFOLIO OF STRATEGIES,
NOT JUST ONE, TO GET THAT DONE.
I WISH I COULD SAY THAT I CAN GO
OUT TOMORROW AND DO THE WORK
MYSELF, AND I CAN BUT THAT'S NOT
REALLY THE WAY THE PROGRAM IS
ORGANIZED.
WE WREELY WANT THE EXTERNAL
RESEARCH COMMUNITY AND THE
INTERNAL PROGRAMS AT NIH TO BE
ENERGIZED TO USE THE DATA TO DO
THE KINDS OF THINGS YOU JUST
SUGGESTED.
>> TERRIFIC.
THANK YOU.
>> THANK YOU FOR A VERY
INFORMATIVE PRESENTATION.
I HAVE A COUPLE OF QUESTIONS.
YOU'RE TRYING TO GET THE
CLINICAL CENTER TO PARTICIPATE
OR MAKE USE OF THE DATA THAT
YOU'RE COLLECTING IN YOUR
DATABASE.
WHAT ACTIVITIES OR WHAT ACTIONS
ARE UNDERWAY TO TRY AND GET
INVOLVED WITH THE EXISTING
CLINICAL RESEARCH DATA THAT'S
GENERATED SUCH AS THAT WHICH IS
GOING INTO BEATR BETRIS FROM THE
CLINICAL CENTER AREAS RESEARCH?
>> THERE HAVE BEEN DISCUSSIONS
WITH THE SCIENTIFIC DIRECTORS
ABOUT THE ALL-OF-US RESEARCH
PROGRAM.
I THINK I'VE BEEN INVOLVED IN AT
LEAST TWO OF THOSE DISCUSSIONS.
BUT I CAN'T SAY THAT I'VE SEEN
THE ACTUAL -- THAT THE FOLLOW-UP
HAS BEEN WHAT I THINK YOU'RE
ALLUDING TO IS HOW DO WE MAKE IT
MORE INTEGRAL TO WHAT THE
CLINICAL CENTER HAS DONE.
I LOVE YOUR ADVICE ON HOW TO DO
THAT.
THERE'S DEFINITELY SOME SOCIAL
ENGINEERING THAT NEEDS TO HAPPEN
TO GET PEOPLE TO UNDERSTAND THE
OPPORTUNITY FOR THE DATA.
CERTAIN INVESTIGATORS LIKE THE
NHGRI GROUP I MENTIONED CLEARLY
HAVE BEEN CLEARLY MOTIVATED TO
DO SO.
WE ALSO HAVE SOME WORK WITH
NICHD AND THE CLINICAL CENTER TO
BEGIN TO BRING DISABILITY SURVEY
WORK INTO THE FOREFRONT OF OUR
PROGRAM THAT CAN BE USEFUL FOR
THE CLINICAL CENTER.
I THINK THE PEDIATRIC WORK THAT
I JUST MENTIONED WILL BE VERY
IMPORTANT, BUT I WOULD LOVE ANY
INSIGHTS FROM THE BOARD AS TO
WHAT WE MIGHT BE DOING
DIFFERENTLY.
>> SECONDLY, WHERE IS THE DATA
STORED?
>> WE HAVE A DATA AND RESEARCH
CENTER, A DRC, IT'S A FUNDED
AWARD.
THE AWARD IS TO THE BROAD
INSTITUTE, VANDERBILT AND
VERILY, PRIVATE COMPANY, PART OF
THE ALPHABET.
THE ACTUAL SERVERS ARE AT
VANDERBILT UNIVERSITY, WHERE THE
DATA IS STORED.
>> SO THEY'RE BASICALLY OFF
CAMPUS DATA CENTERS?
>> YES.
AND IT'S ALL CLOUD-BASED, IT'S
ON GOOGLE CLOUD AND WE'RE
EXPANDING TO AWS IN THE COMING
YEAR.
>> THANK YOU.
>> DR. DEVASKAR.
>> SORRY, I HAVE A SECOND
QUESTION.
>> SURE.
>> DR. GINSBURG.
SO HOW DO YOU TREAT PREGNANCY OF
INDIVIDUALS IN YOUR RECRUITED
COHORT?
THAT'S ONE QUESTION.
AND THEN IF THERE IS A BIRTH,
HOW DO YOU TREAT THAT DIET IN
THE OFFSPRING?
>> WE CERTAINLY RECORD
PREGNANCIES AS PART OF OUR
SURVEY -- SOME OF THE SURVEY
INSTRUMENTS WE'VE LAUNCHED.
WE HAD A PROGRAM PRIOR TO MY
ARRIVAL, PREG-SOURCE I THINK T S
THE NAME OF IT THAT WE
PARTICIPATED IN.
WE ALSO CAPTURED PREGNANCY
INFORMATION FROM THE ELECTRONIC
HEALTH RECORD.
SO I'M SORRY I DON'T HAVE THE
NUMBERS IN FRONT OF ME BUT WE
HAVE SEVERAL, TENS OF THOUSANDS
OF INDIVIDUALS WHO EITHER ARE
CURRENTLY OR HAVE BEEN
PREVIOUSLY PREGNANT.
OF COURSE WE HAVE THE MAJORITY
OF OUR PARTICIPANTS ARE WOMEN.
SO I'M NOT SURE WHAT THE
MOTIVATION OF YOUR QUESTION IS
BUT WE CERTAINLY CAN BE LOOKING
AT MANY OF THE HEALTH ASPECTS OF
PREGNANCY, LIMITED BY WHAT'S IN
THE ELECTRONIC HEALTH RECORD
RIGHT NOW.
I DON'T THINK THAT WE HAVE A
TARGETED SURVEY RIGHT NOW AROUND
MATERNAL HEALTH AND PREGNANCY.
THAT'S GOING TO BE PART OF THE
PEDIATRIC PROTOCOL THAT I
MENTIONED EARLIER, SO MATERNAL
CHILD HEALTH IS AN IMPORTANT
PLANK IN THAT STRATEGIC
PLATFORM, AND THE BIRTHS ARE
RECORDED AGAIN AS INDICATED
EITHER THROUGH SURVEY
INSTRUMENTS, WE GET FAMILY
HISTORY INFORMATION.
WE'LL BE DOING RE-ASSESSMENTS
SOMETIME STARTING IN 2025, SO
BRINGING PEOPLE BACK, WE'LL
LEARN IF EVENTS HAPPENED IN
INDIVIDUALS' LIVES INCLUDING
FAMILY EVENTS THROUGH THAT
MECHANISM AND THE INITIAL
ENROLLMENT FOR OUR PEDIATRIC
PROTOCOL WILL BE FROM PARENTS
WHO ARE ALREADY IN THE PROGRAM,
EITHER ASCERTAINED WHILE THEY'RE
PREGNANT AND EVENTUALLY
ENROLLING THEIR CHILD AT BIRTH,
OR INDIVIDUALS WHO HAVE GIVEN
BIRTH, FAMILIES WHO HAVE HAD A
BIRTH IN THE LAST FEW YEARS WHO
WANT TO ENROLL THEIR CHILD, SO
WE'LL HAVE THOSE DYADS AND
HOPEFULLY EVEN TRIOS AS A
SIGNIFICANT PART OF THE DATASET.
>> THANK YOU.
>> FINAL QUESTION.
>> DR. GINSBURG, THAT WAS A
FABULOUS PRESENTATION.
>> THANK YOU.
>> WONDERFUL WORK.
I'M SORRY TO HEAR YOU HAVE A 34%
REDUCTION IN YOUR BUDGET NEXT
YEAR.
BOY, NO GOOD DEED GOES
UNPUNISHED THERE.
HOLY SMOKE.
BUT I HAD A QUESTION ABOUT I'M
SURE IT'S ROBUST BUT YOU DID NOT
COMMENT, I'D BE CURIOUS ABOUT
IT, WHAT ARE THE SAFEGUARDS
AROUND THE DATA IN TERMS OF
PARTICULARLY WHEN IT'S BEEN
DISTRIBUTED WIDELY LIKE THIS?
BECAUSE IT'S VERY DETAILED,
SOUNDS LIKE THE DATABASE IS
EXTREMELY DETAILED.
>> YEAH.
GOOD QUESTION.
AND IN THE INTEREST OF TIME I
DIDN'T GO THROUGH A LOT OF
DETAILS.
BUT FIRST OF ALL, WE HAVE A VERY
AGGRESSIVE WAY TO ON FEW SKATE -
RESEARCHALLOFUS.ORG, WHERE
ANYBODY WITH A WEB BROWSER CAN
SEARCH ON THINGS LIKE WHAT'S --
HOW MANY PEOPLE DO WE HAVE WITH
A PARTICULAR EHR DIAGNOSIS CODE
OR LABORATORY VALUE OR EVEN THE
GENETIC VARIANTS CAN BE SEARCHED
ON FOR FREQUENCY AND ASSOCIATED
WITH VERY HIGH LEVEL
DEMOGRAPHICS LIKE MALE/FEMALE OR
AGE GROUPS.
ANY RESEARCHER NEEDS TO ASCRIBE
TO OUR CODES OF CONDUCT IN DOING
MORE THAN USING THE PUBLIC DATA
BROWSER SO WE HAVE A REGISTERED
TIER WHICH REQUIRES DATA USE AND
RESEARCH AGREEMENT WITH THE
INSTITUTION FROM WHICH THAT
INVESTIGATOR IS ASSOCIATED.
THERE ARE CODES OF CONDUCT AND
RULES OF THE ROAD THAT ARE
EXPLICIT AND COURSES THAT
INDIVIDUALS ARE REQUIRED TO TAKE
IN ORDER TO ENTER THE REGISTERED
TIER AND USE THE DATA.
THE REGISTERED TIER ALSO
CONTAINS SOME CONFUSED DATES AND
OTHER ATTRIBUTES THAT PREVENT
THE POSSIBILITY OF IDENTIFYING
AN INDIVIDUAL WHICH IS I THINK
THE ISSUE YOU'RE RAISING IS, THE
NEFARIOUS INTENT TO REALLY TRY
TO UNDERSTAND WHO AN INDIVIDUAL
IS IN OUR DATASET.
AND THEN WE HAVE SOMETHING
CALLED THE CONTROL TIER, WHICH
IS THE HIGHEST LEVEL OF ACCESS.
REQUIRES THE MOST AMOUNT OF
ADHERENCE TO CODES OF CONDUCT
AND SECURITY MEASURES, AND
THAT'S WHERE THE GENETIC DATA
RESIDES, THAT'S WHERE WE DEFINE
SPECIFICALLY SELF-REPORTED RACE
AND ETHNICITY AND OTHER DATA
ATTRIBUTES, AND WE HAVE PROGRAMS
THAT ARE CONSTANTLY SURVEILLING
THE DATA TO MAKE SURE THAT NO
ONE IS DOING ANYTHING NEFARIOUS
WITH IT.
AND WE'VE CLOSED DOWN WHAT WE
CALL WORKBENCH WORK SITES, WORK
SPACES ON THAT BASIS.
SO WE KNOW -- I THINK OUR
SECURITY MEASURES SO FAR HAVE
BEEN REALLY GOOD, WE HAVEN'T HAD
ANY HACKS THAT WE'RE AWARE OF,
AND EVEN THOUGH I'M SURE PEOPLE
ARE TRYING.
SO, SO FAR, SO GOOD.
AND WE OF COURSE MAKE SURE OUR
PARTICIPANTS KNOW THAT NOTHING
IS PERFECT BUT WE'RE STRIVING
FOR PERFECTION, AND I THINK THEY
FOR THE MOST PART ARE
TRUSTWORTHY, TRUSTING US TO
HANDLE THEIR DATA IN THE MOST
TRUSTWORTHY DAY, AND WE'RE VERY
TRANSPARENT WITH THE WAY THE
DATA IS BEING USED.
SO I HOPE THAT ANSWERS IN PART
YOUR QUESTION.
I'M HAPPY TO PROVIDE MORE
DETAILS ON THE SECURITY MEASURES
THAT WE HAVE, BULL THAT'S NOT MY
AREA, BUT I KNOW THAT THEY
EXIST.
>> IT'S NOT MY AREA EITHER, BUT
I WAS JUST WEARING THE HAT THAT
WE'RE SUPPOSED TO REVIEW QUALITY
AND SAFETY AND THAT ALWAYS COMES
UP AS A MAJOR ISSUE.
>> ABSOLUTELY.
>> MY SECOND QUESTION IS, A
MILLION RECORDS IS A TERRIFIC
NUMBER.
STEPHANIE WOULD KNOW BETTER THAN
I, BUT MY UNDERSTANDING OF THE
USE OF THESE DATABASES, IT GETS
MORE POWERFUL EXPONENTIALLY AS
YOU INCREASE THE NUMBER OF
PEOPLE IN THEM, RECORDS IN THEM.
SO ARE THERE EFFORTS TO LINK THE
NIH, THIS ALL-OF-US DATABASE
WITH DATABASES BEING CREATED BY
OTHER AK DEMINK MEDICAL CENTERS?
I KNOW ALL THE ACADEMIC MEDICAL
CENTERS ARE CREATING THE THEIR
OWN VERY DETAILED DATABASES JUST
LIKE THIS.
>> IT A GREAT QUESTION AND IT'S
A GREAT VISION.
SO RIGHT NOW, THERE'S NO FORMAL
LINKAGES OF THE TYPE THAT YOU'RE
TALKING ABOUT, BUT WE'VE BEEN
ABLE TO CREATE SOME TRUSTED
RESEARCH ENVIRONMENTS BETWEEN
TWO DATASETS, SO UK BIOBANK AND
ALL-OF-US HAVE WORKED TOGETHER
ON CROSS VALIDATION OF RESULTS
DISCOVERED IN ONE AND VALIDATED
IN THE OTHER AND VICE VERSA.
WE'RE ALSO WORKING WITH ANVILE,
WHICH IS ONE OF THE LARGE
DATASETS THAT NHGRI HAS BEEN
DEVELOPING, AND WE'RE WORKING
ALSO WITH THE NHLBI TOP MED
CONSORTIUM BUT NOT FORMAL
LINKAGES OF THE TYPE AWR TUBING
ABOUT, BUT EVENTUALLY OUR VISION
IS TO HAVE RESEARCHERS WITH A
LOCAL DATABASE THEY HAVE BEEN
ACQUIRING ON THEIR OWN TO PUT
THAT EITHER IN PROXIMITY TO OUR
DATASET ON THE WORKBENCH AND TO
REALLY HAVE A WORK SPACE THAT
ALLOWS THEM TO PRIVATELY HAVE
THEIR DATA BUT LOOK ACROSS
BETWEEN THEIR DATA AND OUR DATA.
AND MAYBE WE'LL END UP WITH
SOMETHING THAT'S MORE
HOMOGENEOUS OVER TIME, BUT I
FULLY AGREE WITH THE VISION THAT
THE MORE DATA WE HAVE, THE MORE
LIKELY IT IS THAT WE'LL
ACCELERATE INSIGHTS FROM THE
DATA.
>> MISS ROYSTER, ONE MORE.
>> GOOD MORNING, DR. GINSBURG.
THANK YOU FOR THIS GREAT
PRESENTATION.
SINCE 2022, I'VE BEEN
PARTICIPATING IN THE ALL-OF-US
STUDY THROUGH THE UPMC NETWORK.
I LIVE IN WESTERN MARYLAND, VERY
RURAL AREA, AND IT IS KIND OF
TOUGH TO GET PEOPLE, RURAL FOLKS
AS WELL AS AFRICAN AMERICAN
FOLKS, TO PARTICIPATE IN
STUDIES, AND I REALLY APPRECIATE
YOUR PUTTING THIS TOGETHER,
WHICH REALLY DIVERSIFIES THE
RESEARCH AND MAKES IT A LITTLE
MORE EASIER TO LOOK -- AND KIND
OF BREAK DOWN THE BARRIERS SO
THAT FOLKS ARE ABLE TO
PARTICIPATE.
ONE OF THE REASONS I REALLY
WANTED TO PARTICIPATE IS THE
BUZZ WORD DNA.
BECAUSE I'M REALLY PARTICULAR
ABOUT WHO KNOWS WHAT REGARDING
MY DNA, AND ALTHOUGH I'M THE
PERSON THAT SIGNED ME UP DID SAY
THAT IT IS A POSSIBLE THAT
THINGS CAN GET HACKED, AND I
REALLY APPRECIATE ALSO THE TYPES
OF QUESTIONS, THE SURVEYS THAT U
ALL HAVE FOR THIS STUDY BECAUSE
ALTHOUGH I THINK I KNOW
EVERYTHING ABOUT ME AND MY
FAMILY, I DON'T, AND IT REALLY
OPENED UP THE REAL GOOD
QUESTIONS REGARDING HEALTH AND
EVERYTHING WHEN IT COMES TO ME.
THANK YOU.
>> THANK YOU, ACTUALLY.
FIRST OF ALL, THANK YOU FOR
SHARING THAT YOU'RE A
PARTICIPANT.
I HESITATED TO ASK AT THE
BEGINNING WHETHER ANYBODY IN THE
ROOM WAS A PARTICIPANT IN THE
PROGRAM.
I APPRECIATE WHAT YOU SAID ABOUT
THE ACCESS OF THE PROGRAM TO
INDIVIDUALS IN RURAL
COMMUNITIES, AND FROM OTHER
UNDERREPRESENTED GROUPS.
WE DO HAVE A VAN THAT -- WE HAVE
FOUR VANS THAT GO AROUND THE
COUNTRY ALL THE TIME TRYING TO
ENROLL PEOPLE WHERE THEY ARE,
GOING TO RURAL COMMUNITIES,
MAKING SURE THAT PEOPLE THAT
OTHERWISE CAN'T TRAVEL HAVE
ACCESS TO THE PROGRAM AND ITS
DATA.
AND AGAIN, THANK YOU FOR BEING
ENTHUSIASTIC ABOUT THE KINDS OF
INFORMATION WE'RE ASKING YOU TO
PROVIDE AND TRUSTING US WITH
YOUR GENETIC DATA AND ALLOWING
THE RESEARCHER COMMUNITY TO GAIN
THE KINDS OF INSIGHTS THAT WE'RE
JUST BEGINNING TO DO BECAUSE OF
PEOPLE LIKE YOU.
SO -- AND BECAUSE OF YOU.
SO THANK YOU VERY MUCH FOR THAT.
>> I'VE BEEN TRYING TO GET OTHER
FOLKS TO SIGN UP.
I DID FINALLY GET MY FRIEND
LARRY TO SIGN UP.
I EVEN POSTED THE ALL-OF-US
INFORMATION ON FACEBOOK.
SO TRYING TO GET -- BUT WHEN I
HAD SIGNED UP IN LIKE 2022, I
THINK IT WAS LIKE AT THE HALF
MARK, LIKE THE 500,000 MARK, I
WAS TOLD, SO IT'S GOOD THAT YOU
ALL HAVE INCREASED SINCE THEN.
>> THANK YOU.
THANK YOU -- WELL, 500,000 WAS A
GREAT MILESTONE.
WE'RE LOOKING FORWARD TO A
MILLION.
AND IT'S ONLY BECAUSE OF
PEOPLE -- BECAUSE OF YOU AND
OTHER PARTICIPANTS THAT WE CAN
DO THIS.
SO AGAIN, MY PROFOUND
APPRECIATION FOR YOUR
PARTICIPATION.
>> THANK YOU SO MUCH,
DR. GINSBURG.
YOU COULD TELL FROM ALL OF THE
QUESTIONS THE LEVEL OF
ENTHUSIASM OF THIS GROUP, AND IT
IS CERTAINLY NOT LOST ON THIS
GROUP THAT IT'S LONG OVERDUAL
THAT WEOVERDUETHAT WE REACH OUTS
THAT HAVE NOT HISTORICALLY BEEN
REPRESENTED IN STUDIES LIKE
THIS.
I MEAN, TO ME, THE OTHER
REMARKABLE THING IS WE SO OFTEN
LOOK AT SOMEONE WHO HAS AN
UNUSUAL PHENOTYPE, UNUSUAL
APPEARANCE, UNUSUAL FUNCTION,
AND THEN ASK WHAT THE GENOTYPE
IS.
THE FACT THAT THIS STUDY WILL
ENABLE US TO LOOK AT PEOPLE WITH
UNUSUAL GENOTYPES AND SAY, THIS
PERSON LOOKS NORMAL, WHY IS
THAT, OR WHAT DID WE MISS IN
THIS PHENOTYPE?
SO AGAIN, THANK YOU SO MUCH FROM
ALL OF US.
>> THANK YOU AGAIN FOR HAVING
ME, AND THE DOOR FROM ME IS
COMPLETELY OPEN FOR YOUR INPUT
ANY TIME AND I'M HAPPY TO COME
BACK AT SOME FUTURE TIME IF
THAT'S DESIRED, SO APPRECIATE
YOU HAVING ME TODAY.
>> GREAT.
THANK YOU VERY MUCH, AND SAFE
TRAVELS.
>> THANK YOU.
>> OKAY.
SO NEXT, I WILL ACTUALLY GIVE
THE UPDATE THAT IS ON BEHALF OF
OUR DIRECTOR, DR. BERTAGNOLLI,
AND AS WAS ANNOUNCED AT THE LAST
MEETING, I'LL BE DOING THIS
REGULARLY AT THIS POINT.
SO IF I COULD HAVE THE NEXT
SLIDE, THIS IS A LITTLE BIT OF A
TABLE OF CONTENTS.
I THOUGHT WHAT I WOULD DO IS
TELL YOU A LITTLE BIT ABOUT
COMINGS AND GOINGS ABOUT PEOPLE
HERE AT NIH, SOME NEW
INITIATIVES THAT WE'VE PUT IN
PLACE, AND THEN MANY, MANY
AWARDS, AND THIS IS NOT A
TOTALLY COMPLETE LIST, I'M SURE.
SO THE NEXT SLIDE WILL GIVE YOU
A ACCEPTS OF W SENSE OF NEXT TOE
NEXT SLIDE.
SO WE'RE VERY, VERY HAPPY TO
ANNOUNCE THAT WE HAVE A NEW
DIRECTOR OF THE FOGARTY
INTERNATIONAL CENTER.
KATHLEEN NEUZIL IS FROM THE
UNIVERSITY OF MARYLAND.
SHE'S JOINING US, HAVING BEEN
FOR MANY, MANY YEARS A
CONSULTANT TO THE CDC, TO THE
WHO.
SHE IS REALLY A GLOBAL HEALTH
EXPERT, AND WE ARE DELIGHTED
THAT SHE IS HAS CHOSEN TO JOIN
US.
DR. JOSHUA GORDON JUST A COUPLE
OF WEEKS AGO LEFT NIH AFTER
ALMOST 10 YEARS AS THE DIRECTOR
OF NIMH, THE MENTAL HEALTH
INSTITUTE.
IN THE MIDDLE OF AUGUST, HE WILL
BECOME THE CHAIR OF THE
DEPARTMENT OF PSYCHIATRY AT
COLUMBIA UNIVERSITY, SO WE WISH
JOSH WELL AND THANK HIM VERY
MUCH FOR HIS SERVICE.
HIS DEPUTY DIRECTOR, SHELLI
AVENEVOLI IS GOING TO BE THE
ACTING NIMH DIRECTOR AND A
NATIONAL SEARCH IS ABOUT TO
BEGIN VERY SHORTLY.
SO AGAIN, WE'RE GRATEFUL TO
DR. AFT AVENEVOLI FOR TAKING T
ON.
DEBORAH CITRIN HAS BEEN NAMED
THE SCIENTIFIC DIRECTOR FOR
CLINICAL RESEARCH AT THE
NATIONAL CANCER INSTITUTE
CLINICAL CENTER RESEARCH.
SHE'S VERY INVOLVED IN RADIATION
THERAPY AND LOOKING AT THE
EFFECTS OF RADIATION, THE
OFF-TARGET EFFECTS OF RADIATION
IN PATIENTS WITH CANCER.
HEATHER PATISAUL HAS BEEN
APPOINTED SCIENTIFIC DIRECTOR OF
THE DIVISION OF TRANSLATIONAL
TOXICOLOGY AT OUR ENVIRONMENTAL
HEALTH SCIENCES INSTITUTE.
THIS IS A WONDERFUL EXAMPLE, AND
THERE ARE SEVERAL OF THESE.
DR. PATISAUL WAS A MEMBER OF THE
NIEHS BOARD OF SCIENTIFIC
COUNSELORS AND REALLY GAVE
ADVICE TO THE SCIENTIFIC
DIRECTOR OF THE NIEHS, AND WAS
SO IMPRESSED WITH WHAT SHE SAW
AND THE OPPORTUNITIES HERE AT
NIH THAT SHE DECIDED TO JOIN US
AS A MEMBER OF OUR FACULTY.
SO SHE COMES TO US FROM OUTSIDE,
BUT REALLY WAS A MEMBER OF THE
FAMILY AT NIEHS, SO WE'RE
DELIGHTED THAT SHE'S CHOSEN TO
JOIN US.
THE NEXT SLIDE, DR. GEORG AUE
HAS BECOME THE ACTING CLINICAL
DIRECTOR OF NHLBI, ANOTHER
WONDERFUL STORY.
DR. RICHARD CHILDS WAS THE
CLINICAL DIRECTOR AT NHLBI.
HE JUST RECENTLY ACCEPTED THE
POSITION OF SCIENTIFIC DIRECTOR,
LEAVING THE CLINICAL DIRECTOR
POSITION VACANT, BUT THERE WAS
DR. GEORG AUE WAS THE DEPUTY
CLINICAL DIRECTOR, AND HAS NOW
STEPPED INTO THAT POSITION WHILE
A SEARCH IS BEING DONE.
SO REALLY AN EXAMPLE OF WHY
MAKING OPPORTUNITIES FOR PEOPLE
TO ASSUME LEADERSHIP POSITIONS
AS A DEPUTY REALLY SERVES IN THE
REALM OF SUCCESSION PLANNING AS
WELL AND GIVES CONTINUITY TO OUR
PROGRAMS WHILE WE'RE RECRUITING
THE NEXT GENERATION OF LEADERS.
SO THE NEXT SLIDE, I'M GOING TO
TELL YOU A LITTLE BIT ABOUT SOME
NEW INITIATIVES, AND THESE
REALLY ARE INITIATIVES THAT WHEN
I SAY I SPEAK ON BEHALF OF
DR. BERTAGNOLLI, THESE ARE
REALLY HER SIGNATURE
INITIATIVES.
THE NEXT SLIDE CONTAINS A LOT OF
PEOPLE WHO DON'T NEED ANY
INTRODUCTION TO ANY AUDIENCE IN
THIS COUNTRY.
SO PRESIDENT BIDEN JUST
RECENTLY, I'M QUITE CERTAIN,
WITH THE URGING OF HIS WIFE
DR. JILL BIDEN, HAS LAUNCHED THE
WOMEN'S HEALTH RESEARCH
INITIATIVE.
IT WILL COME AS NO SURPRISE TO
THIS AUDIENCE THAT REALLY FOR
DECADES, THE WAY DISEASES
PRESENT IN WOMEN HAVE BEEN
THOUGHT OF AS ATYPICAL
PRESENTATIONS WHEN, IN FACT,
THEY ARE THE TYPICAL
PRESENTATION FOR PEOPLE WHO
HAPPEN TO BE WOMEN.
AND SO THE NOTION IS TO REALLY
STUDY AS AN ENTITY THE WAY
DISEASES PRESENT AND THE WAY
DISEASES NEED TO BE TREATED IN
WOMEN, AND THE PRESIDENT HAS
ASKED THAT NIH BE AT THE
FOREFRONT OF THIS EFFORT AND I
KNOW FOR A FACT THAT -- AND JIM
AND I HAVE TALKED ABOUT THIS,
THAT THE CLINICAL CENTER WILL
PLAY A MAJOR, MAJOR ROLE IN
THIS.
ON THE RIGHT, YOU CAN SEE
DR. BERTAGNOLLI AND DR. JANINE
CLAYTON, WHO HEADS OUR OFFICE
FOR RESEARCH IN WOMEN'S HEALTH.
THE NEXT SLIDE IS A PICTURE FROM
A MEETING THAT JUST RECENTLY
TOOK PLACE, AND AS IS OUR WANT
THESE DAYS, WE HAD PEOPLE IN THE
ROOM AND PEOPLE ON ZOOM, AND
THIS IS AN INITIATIVE THAT WE
HOPE WILL DEMOCRATIZE THE
ABILITY OF INSTITUTIONS AROUND
THE COUNTRY TO PERFORM GENE
THERAPY TRIALS.
RIGHT NOW MOST OF THE GENE
THERAPY TRIALS BEING DONE IN
THIS COUNTRY ARE BEING DONE IN
VERY, VERY LARGE ACADEMIC
INSTITUTIONS AND PATIENTS WHO
ARE OFTEN -- BECAUSE THESE ARE
RARE AND ULTRA-RARE DISEASES,
HOSPITALS ALL AROUND THE WORLD
MAY HAVE ONE OR TWO FAMILIES
THAT HAVE THESE DISORDERS AND
EVERYBODY HAS TO TRAVEL, USUALLY
TO THE EAST COAST OR THE WEST
COAST TO GET THE STUDIES DONE.
THE WHOLE IDEA IS FOR THE NIH TO
SERVE AS A RESOURCE, AS A SORT
OF A NATIONAL CORE FACILITY TO
BE ABLE TO PROVIDE THE
WHEREWITHAL TO CENTERS AROUND
THE COUNTRY TO ENABLE THEM TO
PROVIDE CARE FOR THESE PATIENTS
MUCH CLOSER TO HOME.
AND THIS MEETING REALLY WAS AN
INTERAGENCY MEETING WITH NIH,
THE FOOD AND DRUG ADMINISTR
ADMINISTRATION, AND THE CENTER
FOR MEDICARE MEDICAID SERVICES
PARTICIPATING.
AND SO REALLY THE LAUNCH OF A
VERY BROAD NATIONAL EFFORT TO
MAKE GENE THERAPY AVAILABLE.
TO
PEOPLE.
ON THE NEXT SLIDE IS AGAIN A
SIGNATURE PROGRAM THAT DR
DR. BERTAGNOLLI IS INVESTING IN.
AND THIS IS ALMOST AT THE OTHER
END OF THE SPECTRUM FROM THE
RARE DISEASE INITIATIVE.
THIS IS AN EFFORT TO BRING
PRIMARY CARE PRACTICES AROUND
THE COUNTRY TO ENABLE THEM TO
CONTRIBUTE DATA FROM THEIR
ELECTRONIC MEDICAL RECORDS SO
THAT ISSUES OF HEALTH, COMMON
DISORDERS THAT AFFECT PEOPLE ALL
AROUND THE COUNTRY IN VERY, VERY
LARGE NUMBERS, CAN BE LOOKED AT
IN A SYSTEMATIC WAY, AND SO THAT
THE DATA MANAGING AND DATA
MINING RESOURCES OF THE NIH CAN
BE BROUGHT TO BEAR ON THE
INFORMATION THAT IS ALREADY
BEING COLLECTED IN PRIMARY CARE
PRACTICES AROUND THE COUNTRY,
AND TO PROVIDE THESE PRACTICES
WOULD STANDARDIZE DATA GATHERING
SETS TO PROVIDE THESE PRIMARY
CARE PRACTICES WITH THE ABILITY
TO PARTICIPATE IN A NATIONAL
RESEARCH EFFORT.
AND THAT LITERALLY JUST LAUNCHED
A COUPLE OF WEEKS AGO.
THE NEXT SLIDE WILL INTRODUCE
THE FINAL SECTION OF THIS
UPDATE, AND THAT IS THE MANY,
MANY AWARDS THAT OUR FACULTY
HAVE TBAR NER GARNERED SINCE WET
AS A BOARD.
SO THE NEXT SLIDE JUST SHOWS YOU
FIVE INDIVIDUALS WHO HAVE BEEN
ELECTED TO THE NATIONAL ACADEMY
OF SCIENCES.
DR. KONKEL IS FROM NIEHS AND
WORKS ON THE EFFECT OF
ENVIRONMENTAL TOXINS ON DNA
REPLICATION.
DR. KWON-CHUNG IS FROM NIAID AND
WORKS ON DISORDERS CAUSED BY
FUNGAL INFECTION AND THE
MOLECULAR UNDERPINNINGS OF THOSE
DISORDERS.
DR. STEVEN ROSENBERG IS NO
STRANGER TO THIS GROUP, AND HE
AND DR. GIORGIO TRINCHERI AND
DR. SANDRA WOLIN ARE ALL FROM
NCI, THE NATIONAL CANCER
INSTITUTE.
DR. ROSENBERG AND DR. TRINCHERI,
OF COURSE, WORK ON
IMMUNOTHERAPIES FOR CANCER, AND
ABNORMALITIES OF THE IMMUNE
SYSTEM THAT PREDISPOSE TO CAN
CANCER.
AND DR. WOLIN IS ONE OF THE
WORLD EXPERTS ON THE RNA
BIOLOGY.
RNA IS A MOLECULE -- I'M A
BIOCHEMIST BY BACKGROUND, AND
RNA IS A MOLECULE THAT WHEN I
WAS IN SCHOOL, WAS JUST THE
MIDDLEMAN BETWEEN DNA AND THE
PROTEINS.
IT WAS JUST THERE TO TRANSLATE
WHAT WAS IN THE NUCLEUS TO BEING
USED IN THE CYTOPLASM, AND NOW
WE KNOW THAT RNA HAS ABOUT A
HUNDRED OTHER FUNCTIONS THAT WE
HAD NO IDEA EXISTED PERHAPS 10
YEARS AGO, AND A LOT OF THAT IS
BECAUSE OF DR. WOLIN.
THE NEXT SLIDE SHOWS YOU SOME OF
OUR ADMINISTRATIVE PERSONNEL WHO
HAVE WON PRESIDENTIAL RANK
AWARDS FROM HHS.
KEITH LAMIRANDE IS FROM NCATS,
COLLEEN MCGOWAN IS FROM THE
OFFICE OF RESEARCH SERVICES,
CAMILLE HOOVER FROM NIDDK, AND
JERRY SHEEHAN FROM THE NATIONAL
LIBRARY OF MEDICINE.
AND THIS REALLY IS THE PREMIERE
AWARD FROM THE DEPARTMENT TO A
CAREER GOVERNMENT STAFF MEMBER.
THE NEXT SLIDE, AGAIN, NO
STRANGER TO THIS GROUP,
DR. LINEHAN WORKS IN THE
CLINICAL CENTER AND IS A
SURGEON, UROLOGIC SURGEON WHO
WORKS ON CANCER IN THE UROLOGIC
SYSTEM.
HE WON THE SECRETARY'S AWARD FOR
DISTINGUISHED SERVICE FROM HHS.
THE NEXT SLIDE IS DR. ANDRE
NUSSENZWEIG, WHO WON A CAREER
ACHIEVEMENT AWARD.
HE WORKS ON DNA DAMAGE AND ITS
ROLE IN CANCER PREDISPOSITION.
AND THE FINAL SLIDE, AGAIN, IS
SOMEONE VERY FAMILIAR TO THIS
GROUP, DR. BRIGITTE WIDEMANN WHO
WON THE SECRETARY'S AWARD FOR
MERITORIOUS SERVICE, AND
DR. WIDEMANN HEADS THE PEDIATRIC
ONCOLOGY GROUP HERE AT THE
CLINICAL CENTER AND WORKS ON
NEUROFIBROMATOSIS, REALLY A
PREDISPOSITION SYNDROME TO
CANCER OF THE NERVOUS SYSTEM.
SO I THANK YOU FOR GIVING ME THE
OPPORTUNITY TO PRESENT AN
UPDATE, AND REALLY, REALLY PROUD
OF EVERYTHING THAT HAS HAPPENED
JUST SINCE OUR LAST MEETING.
SO NOW IT'S MY PLEASURE TO TURN
THE PODIUM OVER TO DR. GILMAN
AGAIN, WHO'S GOING TO GIVE US
THE CEO'S REPORT.
>> THANKS, NINA.
I THINK I'LL DO THIS ONE FROM
HERE.
SO WE CAN GO AHEAD AND GO TO THE
NEXT SLIDE.
SO THE FIRST SLIDE, WE ALWAYS
START OFF WITH BRAGGING, AND
ANTOINETTE ROYSTER, ARE WHO IS A
MEMBER OF THE CLINICAL CENTER
RESEARCH HOSPITAL BOARD, HAS
BEEN A PATIENT AT THE CLINICAL
CENTER FOR A QUARTER OF A
CENTURY, AND ANTOINETTE IS A
FREQUENT VISITOR TO THE CLINICAL
CENTER AND OFTEN STOPS IN TO LET
US KNOW HOW WE'RE DOING, AND
DROP OFF A COOKIE OR SOME CANDY
OR SOMETHING.
WE APPRECIATE THE OPPORTUNITY TO
TAKE CARE OF HER.
THIS IS DR. NICOLE FARMER.
ABOUT A YEAR AGO, I THINK,
DR. WOLIN CAME AND OUTLINED THE
RESEARCH PROGRAM FOR THE
TRANSLATIONAL AND BIOBEHAVIORAL
AND HEALTH DISPARITIES BRANCH AT
THE NIH, AND DR. WOLIN OF COURSE
WAS THE CHIEF NURSING OFFICER
AND THEN A FEW YEARS AGO WENT
BACK THOUGH RESEARCH, HER FIRST
LOVE, AND SHE PRESENTED THE
RESEARCH PROGRAM FOR THE
TRANSLATIONAL BIOBEHAVIORAL AND
HEALTH DISPARITIES BRANCH OF THE
NIH CLINICAL CENTER RESEARCH
PROGRAM.
AGAIN, I THINK IT WAS ABOUT A
YEAR AGO, AND DR. FARMER HAS
BEEN A YOUNG INVESTIGATOR IN
THAT BRANCH FOR A WHILE WHO HAS
BEEN DEVELOPING HER OWN
INDEPENDENT RESEARCH PROGRAM.
AND RECENTLY, BECAME THE SECOND
NIH INVESTIGATOR TO BE ADMITTED
INTO THE NIH DISTINGUISHED
SCHOLARS PROGRAM.
THE TENURE TRACK INVESTIGATOR IN
DR. GRADY'S BIOETHICS DEPARTMENT
WAS THE FIRST AND THIS IS NOT
ONLY A DISTINGUISHED HONOR, BUT
IT PROVIDES SIGNIFICANT
RESOURCES TO THESE INVESTIGATORS
TO RAPIDLY GROW AND EXPAND THEIR
RESEARCH EFFORTS.
AND AS SUCH, IT CREATES A LITTLE
WIGGLE ROOM IN THE NIH CLINICAL
CENTER RESEARCH BUDGET.
SO THIS IS A REALLY GOOD THING
FOR ALL KINDS OF REASONS, AND
WE'RE VERY PROUD OF OUR TWO
DISTINGUISHED SCHOLARS.
WE RECENTLY RECEIVED, JUST LAST
WEEK OR EARLIER THIS WEEK
ACTUALLY, IT WAS MONDAY, THE
HEALTH AND HUMAN SERVICES FISCAL
YEAR 2023 GREEN CHAMPION AWARD
FOR THE SMALL GROUP, THIS IS OUR
STERILE PROCESSING SECTION OF
THE CLINICAL CENTER NURSING
DEPARTMENT.
IT'S LED ABLY BY BIBI AVILA, THE
FIRST NAME ON THE LIST, AND THEY
WERE RECOGNIZED FOR
SIGNIFICANTLY REDUCING THE
ENVIRONMENTAL IMPACT OF
STERILIZATION PACKAGE FOR
SURGICAL DEVICES IN THE
OPERATING ROOM.
AND IT NOT ONLY REDUCED WASTE,
BUT IT REDUCED THE CARBON
FOOTPRINT AND REDUCED BUDGET
COSTS AND RESULTED IN LESS WORK
AS WELL.
BIBI DOES A GREAT JOB OF THIS,
AND THIS WAS RECOGNIZED NOT ONLY
BY THIS AWARD, BUT ALSO DURING
THE JOINT COMMISSION SURVEY THAT
YOU'LL HEAR ABOUT IN A LITTLE
BIT.
LAST FRIDAY, WE HAD THE FIRST OF
ITS KIND EVENT.
SO WHEN I ARRIVED TO THE NIH
CLINICAL CENTER OVER SEVEN YEARS
AGO, I ASKED WHETHER WE HAD A
GRADUATION CEREMONY FOR ALL OF
OUR CLINICAL FELLOWS AND WHAT I
WAS TOLD BY THE CHIEF OF OUR
TRAINING AND MEDICAL EDUCATION
GROUP AT THE TIME WAS THAT THE
INDIVIDUAL PROGRAMS ALL DID
THEIR OWN THING, AND THERE
REALLY WASN'T A LOT OF DESIERL
TO HAVE THIS COMBINED PROGRAM.
WELL, JOYCE CHUNG, THE EXECUTIVE
DIRECTOR FOR GRADUATE MEDICAL
EDUCATION AND THE DESIGNATED
INSTITUTIONAL OFFICIAL FOR ALL
ACGME SPONSORED PROGRAMS AND WHO
OVERSEES ALL THE PROGRAMS, NOT
JUST THE ACGME ACCREDITED
PROGRAMS, SAID WE'RE GOING TO DO
THIS.
LAST YEAR IT WAS JUST KIND OF --
THERE WAS KIND OF, I THINK, A
PICNIC IN THE PARK KIND OF
EVENT, BUT THIS YEAR THERE WAS
GOING TO BE A REAL CEREMONY.
AND FRANKLY, WE MISSED OUT BY
NOT HAVING THIS CEREMONY.
IT WAS A SPECTACULAR CEREMONY
LAST FRIDAY IN MASUR AUDITORIUM.
YOU CAN SEE THE NUMBER OF
GRADUATES FROM 30 PROGRAMS, THE
HIGHLIGHT WAS ALL OF THE
GRADUATING FELLOWS WHOSE YOUNG
CHILDREN WALKED THE STAGE WITH
THEM, AND ALTHOUGH SHE COULDN'T
ATTEND IN PERSON BECAUSE THE
ADVISORY COUNCIL FOR THE
DIRECTOR WAS THERE, WAS IN
SESSION, DR. BERTAGNOLLI
RECORDED REMARKS WHICH WERE
VERY, VERY FOCUSED ON THE
OCCASION AND IT WAS JUST A
REALLY, REALLY GOOD EVENT.
WE CAN'T GO BACK AND REDO THE
ONES FOR THE LAST SIX YEARS, BUT
I CAN TELL YOU THAT THIS IS A
KEEPER.
THE CLINICAL CENTER PROVIDED
SOME RESOURCES BUT NOT -- IT'S
NOT ALL THAT EXPENSIVE, AND THIS
TURNED OUT FOR A FIRST-EVER KIND
OF EVENT.
IT TURNED OUT TO BE GREAT.
I SUSPECT DR. SCHOR TO MY LEFT
HERE MIGHT BE ASKED TO SPEAK AT
THIS EVENT SOMETIME IN THE NEAR
FUTURE.
YOU JUST NEVER KNOW.
WHEN WE MET EARLIER THIS YEAR,
WE TALKED ABOUT A PROGRAM THAT
WE DID IN DECEMBER IN THE
CLINICAL CENTER THAT WAS
ENTITLED ANXIETY, DEPRESSION AND
SUICIDE PREVENTION.
AND SOME OF THE CLINICAL CENTER
RESEARCH HOSPITAL BOARD MEMBERS
THOUGHT THAT WAS A PRETTY UNIQUE
EVENT, AND WE PROVIDED THE
ABILITY TO VIEW THAT PROGRAM TO
THE CLINICAL CENTER RESEARCH
HOSPITAL BOARD MEMBERS.
IT'S NOT -- IT WASN'T GENERALLY
AVAILABLE TO THE EXTRAMURAL
AUDIENCE, BUT THE CLINICAL
CENTER RESEARCH HOSPITAL BOARD
MEMBERS WERE ALL PRESENTED THAT
LINK.
WE HAD THE SECOND CONFERENCE OR
THE SECOND PRESENTATION ON THE
SAME -- ESSENTIALLY THE SAME
TOPIC A FEW WEEKS AGO.
AND MY CONTRIBUTION TO THIS
PROGRAM WAS TO SAY, YOU KNOW,
WHEN I WENT TO MEDICAL SCHOOL
AND THERE WAS -- AND WHEN WE
WERE LEARNING ABOUT A DISEASE
AND THE LEARNING PROCESS
INVOLVED THOSE WITH LIVED
EXPERIENCE IT WAS SOME OF THE
MOST IMPACTFUL LEARNING
EXPERIENCES I COULD REMEMBER
DURING MEDICAL SCHOOL.
AND I SAID I DON'T KNOW THAT
WE'VE EVER HAD THAT WHEN IT CAME
TO SUICIDE PREVENTION.
SO I ASKED THE ORGANIZERS, JOHN
POLLACK OF OUR SPIRITUAL CARE
DEPARTMENT AND MARILYN POWELL
AND LISA HORWITZ OF THE NATIONAL
INSTITUTE OF MENTAL HEALTH
WHETHER EVEN A PROGRAM LIKE THAT
WAS POSSIBLE.
AND THEY SAID YEAH.
SO WHAT WE HAD WAS ERIN HARLOWE,
ADVANCED PRACTICE NURSE AND
MANAGER OF CHILD ADVOCACY
PROGRAMS AT CHILDREN'S
HEALTHCARE OF ATLANTA, WHOSE
HUSBAND A COUPLE YEARS AGO DIED
BY SUICIDE.
AND THEN WE HAD A VERY BRAVE
PHYSICIAN, DR. WEST, WHO IS
DIRECTOR OF PROFESSIONAL
EDUCATION AND THEIR DESIGNATED
INSTITUTIONAL OFFICIAL, NAVAL
HOSPITAL JACKSONVILLE, WHO HAD A
VERY -- WHO MADE A GREAT EFFORT
TO DIE BY SUICIDE, BUT
MANAGED -- BUT SURVIVED.
, COME
AND SPEND 90 MINUTES WITH US AND
TO TALK ABOUT LIVED EXPERIENCE
RELATED TO SUICIDE.
AND SHARING THEIR STORIES OF
RECOVERY AND RESILIENCE.
IT WAS A PRETTY POWERFUL AND
IMPACTFUL 90 MINUTES.
WE DO HAVE RECORDINGS OF THAT,
AND WE WOULD MAKE THAT
AVAILABLE.
BUT AGAIN, IN OUR EFFORTS TO
ADDRESS WELLNESS AND OUR EFFORTS
TO DEAL WITH THREE OR FOUR
INCIDENCES THAT HAVE TOUCHED THE
CLINICAL CENTER FAMILY AND
PEOPLE WHO HAVE DIED BY SUICIDE,
IT WAS, I THINK, A GOOD -- IT
WAS A GOOD -- IT WAS A WONDERFUL
EVENT FOR MAKING US THINK AND
SEE THINGS DIFFERENTLY.
I KNOW I CAME OUT OF THERE
THINKING A LITTLE BIT
DIFFERENTLY ABOUT A COUPLE OF
ISSUES AND WE'LL HAVE A THIRD
INSTALLMENT COMING UP, I'M NOT
EXACTLY SURE, WE STILL HAVE TO
AGREE ON WHAT THE THEME OF THE
TOPIC IS GOING TO BE, BUT IT MAY
RELATE TO SUICIDE IN YOUNG
PEOPLE AS SORT OF THE THIRD
EVENT.
SO KUDOS TO ALL THE PEOPLE THAT
WERE INVOLVED IN ORGANIZING
THIS, AND IT'S JUST ANOTHER
EXAMPLE OF WHY -- OF WHAT WE DO
IN THE CLINICAL CENTER, WHICH IS
TO NOT AVOID TOPICS THAT ARE
HARD TO TALK ABOUT.
WE'RE STILL IN THE PROCESS OF
REBUILDING THE TEAM.
WE ARE JUST ABOUT READY TO
LAUNCH THE SEARCH FOR THE
CLINICAL CENTER EXECUTIVE
OFFICER.
WE ARE DEEP INTO THE SEARCH OF
THE CLINICAL CENTER CHIEF
SCIENTIFIC OFFICER, SINCE THE
RETIREMENT OF DR. GALLIN A YEAR
AGO.
WE'RE ALSO IN THE PROCESS OF
LOOKING FOR THE CHIEF OF THE
OFFICE OF HOSPITAL
ADMINISTRATIVE SERVICES OR OHAS.
WE THINK WE'RE VERY CLOSE TO THE
END OF THE SEARCH FOR THE CHIEF
OF PAIN AND PALLIATIVE CARE.
ANNE COHEN BERGER HAS PRESENTED
TO THIS GROUP A TIME OR TWO, AND
ANNE RETIRED AT THE END OF THE
YEAR AND DR. HADIGAN IS THE
SELECTING OFFICIAL FOR THE NEXT
CHIEF THERE, AND WE THINK WE'RE
CLOSE.
WE'RE ALSO CLOSING IN ON THE END
OF A SELECTION FOR A NEW CHIEF
OF THE SOCIAL WORK DEPARTMENT.
THIS IS A SLIDE FROM DR. JORDAN
TO SHOW WHERE WE ARE IN TERMS OF
OUR MAGNET JOURNEY.
THE DOCUMENTS ARE ALL IN.
WE EVEN HEAR RUMORS THAT THE
ANCC HAS ACTUALLY REVIEWED THE
DOCUMENTS.
THE NEXT THING WE EXPECT TO HEAR
IS PROPOSALS FOR WHEN THEY WOULD
LIKE TO VISIT WITH US, WHERE
THEY NEED TO COME MAKE SURE WHAT
WE SAY WE DO WHEN WE SUBMIT ALL
THESE DOCUMENTS IS WHAT WE
ACTUALLY DO IN THE CLINICAL
CENTER.
SO WE EXPECT THAT EVENT TO TAKE
PLACE SOMETIME A LITTLE BIT
LATER THIS SUMMER OR EARLY THIS
FALL, AND WE'RE IN THE PROCESS
OF SORT OF REHEARSING AND
GETTING READY AND THE PAPERWORK
IS ALL DONE, NOW IT'S A MATTER
OF THEIR VISIT.
OUR NEW WING CONTINUES TO TAKE
PLACE, SO NO WEATHER ELEMENTS
DEPICTED HERE.
THIS WAS A BEAUTIFUL SPRING DAY,
AND YOU CAN SEE THAT VERTICAL
CONSTRUCTION IS NOW UNDERWAY,
AND BY GOING THROUGH ONE OF THE
INTERSTITIAL SPACES, I CAN GO
FROM MY OFFICE OUT TO CHECK ON
THE CONSTRUCTION AND MAKE SURE
THEY'RE DOING IT RIGHT JUST
ABOUT THREE OR FOUR TIMES A
WEEK, WHICH I DO.
AND SO FAR, IT'S BEEN A LOT OF
FUN TO WATCH THE PROGRESS.
LAST NIGHT, THE CLINICAL CENTER
GOVERNING BOARD, WE HAD A
DISCUSSION ABOUT THE STRATEGY
FOR OUTFITTING AND EQUIPPING THE
NEW SURGERY RADIOLOGY AND
LABORATORY MEDICINE WING.
THE CLINICAL CENTER GOVERNING
BOARD THANKFULLY AGREED WITH THE
INITIAL PARTS OF OUR PLAN, WHICH
IS FINALIZING EQUIPMENT LISTS
AND GETTING A PLAN FOR WHAT
NEEDS TO COME IN WHEN, WHAT
NEEDS TO COME IN NOW, WHAT NEEDS
TO COME IN LATER, AND TRYING TO
GET BEST VALUE FOR OUR EFFORTS
IN A VERY ORGANIZED WAY.
APRIL 25TH WAS A REALLY FUN DAY
HERE AT THE CLINICAL CENTER.
WE HAD -- IT WAS THE TAKE YOUR
CHILD TO WORK DAY.
IT WAS ALSO EARTH DAY.
AND IT WAS DNA DAY.
SO WE HAD A LOT OF THINGS GOING
ON.
WE HAVE A NEW SCULPTURE OUT IN
FRONT OF THE CLINICAL CENTER.
YOU CAN SEE IT AT LOWER LEFT.
AND AT LOWER RIGHT.
THIS -- THE TITLE OF THE
SCULPTURE IS "THE LADDER," AND
IT COMES FROM THE OLD TESTAMENT
STORY OF JACOB'S LADDER BUT ALSO
RELATES TO THE STRUCTURE OF DNA,
THEREFORE, FOUR YOUNG CHILDREN
ON THAT LADDER, I LOVE IT FOR
THE FACT THAT ARE IT KEEPS
REMINDING US THAT WE NEED TO BE
ABLE TO TAKE CARE OF CHILDREN
WHO ARE A LITTLE YOUNGER IN THE
CLINICAL CENTER.
THAT THE CHILDREN ALL HAVE COME
FROM DIVERSE BACKGROUNDS AND
THEY DEPICT THE FOUR MESSENGERS,
FOUR NUCLEIC ACIDS THAT ARE PART
OF DNA.
ON THE LOWER RIGHT, YOU SEE ME
AND A FAMILY, YOU ALSO SEE
DR. CINDY TIFT OF THE NATIONAL
HUMAN GENOME RESEARCH INSTITUTE,
AND YOU SEE FOUR CHILDREN.
THREE OF THE FOUR CHILDREN, ALL
EXCEPT THE YOUNGEST, ARE
AFFLICTED WITH G
GM1 GANGLIOCIDOSIS.
THAT'S THEIR GRANDMOTHER AND
MOTHER TO THE RIGHT AND THEIR
FATHER IS ON THE LEFT WITH ME.
THE THREE CHILDREN WERE
ESSENTIALLY ON THE LAST PLANE
OUT OF EUROPE THAT THEY COULD
GET ON IN ORDER TO GET HERE IN
2020 AND PARTICIPATE IN THE GENE
THERAPY TRIAL FOR GM
GM1 GANGLIOCIDOSIS WHICH IS A
SORT OF A LATER -- SYDNEY TIFT
IS THE PI.
PROTOCOL.
THE YOUNGEST CHILD, THE FOURTH
CHILD, IT TAKES A LOT OF COURAGE
TO BE PARENTS AND TO HAVE THREE
CHILDREN WHO ARE AFFLICTED BY A
VERY SIGNIFICANT
NEURODEGENERATIVE DISEASE, BUT
PRENATAL TESTING INDICATED THAT
THE FOURTH CHILD WAS NOT
AFFLICTED SO THIS WAS ACTUALLY
OUR OPPORTUNITY TO MEET WITH
HIM.
AND SO JUST A FEW DAYS AFTER WE
UNVEILED THE SCULPTURE, WE WENT
OUT IN FRONT OF THE CLINICAL
CENTER, AND I GOT TO HAVE MY
PICTURE WITH THEM.
IT WAS THEIR PRESENCE EARLY IN
THE PANDEMIC WHEN WE WERE
LARGELY CLOSED DOWN, WAS A VERY
POWERFUL FACTOR IN THE M MORALEF
THE STAFF OF THE CLINICAL
CENTER.
THEY HAD THE COURAGE TO LEAVE
EUROPE AS BASICALLY THINGS WERE
BEING CLOSED DOWN AND STILL MAKE
THEIR WAY TO THE NIH.
AND THE FACT THAT WE WERE STILL
TRYING TO PUSH THE FRONTIERS OF
TREATMENT FOR THIS HORRIBLE
NEURODEGENERATIVE DISEASE EVEN
IN THE MIDST OF A PANDEMIC MEANT
A LOT TO ALL OF US.
AND THERE WAS A NICE PIECE IN
THE WASHINGTON PAPER.
ANYWAY, IT WAS REALLY COOL.
THAT'S ALSO ME WITH A PICTURE OF
THE TWO SONS OF OUR CHIEF BUDGET
OFFICER.
THAT'S AUGGIE AND MAGNUS MOSANI.
IT WAS BETWEEN 3,000 AND 3500
CHILDREN ON THE NIH CAMPUS FOR
TAKE YOUR CHILD TO WORK DAY.
AGAIN I'VE BEEN DOING THIS IN
LEADERSHIP POSITIONS FOR A LONG
TIME, AND IT'S A MEASURE OF HOW
PEOPLE FEEL ABOUT THEIR WORK.
IT'S A MEASURE OF PEOPLE, HOW
THEY FEEL ABOUT THEIR WORKPLACE,
AND IT'S A MEASURE OF THE
MISSION OF THE PLACE WHERE THE
WORK IS DONE THAT THEY -- THAT
SO MANY OF THEM BRING THEIR
CHILDREN TO WORK ON THAT DAY.
SO THE JOINT COMMISSION HAS COME
AND GONE AND DAVID LANG IS GOING
TO UPDATE YOU AND I'M NOT GOING
TO STEAL HIS THUNDER.
THIS IS WHAT OUR CENSUS LOOKS
LIKE.
AGAIN, WE'VE COME BACK A LITTLE
BIT FROM THE SORT OF THE
PANDEMIC AVERAGES, THE GREEN
LINE IS THE CURRENT LINE.
IT'S ABOUT 7 TO 10% INCREASE
OVER LAST YEAR.
THESE ARE THE NUMBERS, SO
INPATIENT ADMISSION IS UP 8%,
LENGTH OF STAY REALLY HASN'T
CHANGED VERY MUCH.
INPATIENT DAYS ARE ACTUALLY UP A
LITTLE BIT.
AVERAGE DAILY CENSUS IS UP 10 TO
12%.
OUTPATIENT VISITS ARE BASICALLY
A PUSH.
AND THE NUMBER OF NEW PATIENTS
IS ABOUT THE SAME AS IT WAS LAST
YEAR.
THIS IS THE FIRST YEAR THAT
WE'VE SEEN THINGS BEGIN TO COME
BACK A LITTLE BIT, AND IT'S
PRETTY ENCOURAGING.
TELEHEALTH VISITS ARE STILL
PRETTY STABLE NOW AFTER SORT OF
THE SURGE AT THE START OF THE
SHUTDOWN FOR THE PANDEMIC.
A COUPLE OF SLIDES HERE TO TALK
ABOUT ARE DIVERSITY, EQUITY AND
INCLUSION AND ACCESSIBILITY
PROGRAMS.
WE HAD A BLACK HISTORY MONTH
PROGRAM AND ALSO WOMEN'S HISTORY
MONTH PROGRAM WITH THE BLACK
HISTORY MONTH PROGRAM, WE HAD A
GREAT GROUP FROM HOWARD
UNIVERSITY DEPARTMENT OF MUSIC
THAT PUT ON A GREAT PERFORMANCE
IN THE CLINICAL CENTER ATRIUM.
WOMEN'S HISTORY MONTH WAS A
COMMUNITY-BASED PARTICIPATORY
RESEARCH PROGRAM WITH
DR. MARABEL BELL TRAN FROM
GEORGETOWN UNIVERSITY.
WE ALSO HAVE A COUPLE OF NEW
DEIA INITIATIVES, ONE IS A
SPANISH ENGLISH EXCHANGE CIRCLE.
THAT'S PROVEN TO BE VERY
POPULAR, AND THIS PRESENTATION
BY SILBIE, CEO OF ECK .
WE ALSO HAD A PANEL OF SPEAKERS
INCLUDING DR. WOLIN AND A NUMBER
OF OTHERS FROM THE NIH TALKING
ABOUT LESSONS LEARNED FROM
COVID-19, PROMOTING
REPRESENTATION OF DIVERSE
POPULATIONS IN RESEARCH, AND
FROM MISS ROYSTER AND THE
PRESENTATION FROM DR. GINSBURG,
YOU CAN TELL THAT WE HAVE A LOT
OF GROUPS IN THE NIH FOCUSED ON
THAT.
WE ACTUALLY TOOK OUR MASKS OFF
FINALLY.
WE WERE PROBABLY AMONG THE VERY
LAST TO DO IT.
AND IT'S NOT NO MASKS, IT'S
MASKS ARE OPTIONAL.
WE STILL HAVE A NUMBER OF STAFF
WHO PREFER TO WEAR MASKS, AND WE
HAVE SOME PATIENTS WHO WOULD
PREFER THAT WE MASK WHEN THEY'RE
IN -- WHEN WE ARE IN THEIR
PRESENCE, AND SO -- AND WE'RE
VERY UP FRONT WITH THE STAFF
THAT SAID OKAY, WE'RE GOING
MASKS OPTIONAL NOW, BUT WE THINK
IN THE FALL, WHEN WE GET BACK
INTO RESPIRATORY DISEASE SEASON,
THAT MASKS WILL BE BACK ON IN
PATIENT CARE AREAS.
I WON'T BE VERY POPULAR THAT DAY
IN THE CLINICAL CENTER, BUT WE
HAVE PRETTY GOOD EVIDENCE THAT
NOT JUST IN TERMS OF COVID-19
TRANSMISSION, BUT IN VIRAL
DISEASES IN GENERAL, THAT THE
USE OF MASKS IN OUR PATIENT CARE
AREAS AND WHEN WE WERE ALL
MASKING, WE HAD UNIVERSAL
MASKING EXCEPT WHEN YOU'RE BY
YOURSELF IN THE OFFICE, THAT WE
CUT DOWN ON TRANSMISSION, NOT
JUST OF COVID BUT OF A NUMBER OF
RESPIRATORY VIRUSES.
SO WHAT WILL BE ABOUT THIS
SUMMER AND FALL IS THAT WE STILL
HAVE A FEW KEY LEADERSHIP
POSITIONS TO FILL.
WE WILL CONTINUE TO FOCUS ON
DIVERSITY, EQUITY, INCLUSION AND
ACCESSIBILITY.
WE'RE KIND OF AT A PLATEAU IN
TERMS OF OUR PEDIATRIC
INITIATIVES AND WE'LL CONTINUE
TO HAFOCUS ON STAFF WELL-BEING.
WE'VE BEEN ON THIS JOURNEY A
LONG TIME AND WE WANT TO FINISH
IT, AND WE HAVE TO DO THE THINGS
WE TOLD THE JOINT COMMISSION WE
WOULD DO IN OUR RESPONSE TOO.
WE ALSO ARE SPENDING A LOT OF
TIME ON THE FY 25 BUDGET.
WE HAVE A NEW ACRONYM, IT'S
CALLED NFBY.
IT MEANS A NO -- A NO-FUN BUDGET
YEAR.
'25 WILL BE THE MOST CHALLENGING
BUDGET YEAR SINCE I ARRIVED IN
THE CLINICAL CENTER.
THE STAFF ARE HARD AT WORK ON IT
AND WE'RE TRYING TO DO THE BEST
WE CAN WITHOUT SACRIFICING ANY
OF OUR FOCUS ON PATIENT SAFETY
OR TURNING PEOPLE AWAY WHO WANT
TO COME TO THE CLINICAL CENTER.
BUT IT'S GOING TO -- IT'S TOUGH
ALL THE WAY AROUND -- WE EXPECT
TO BE A TOUGH YEAR ALL THE WAY
AROUND FOR THE NIH.
SO DAVID HAS PROVIDED YOU OUR
PATIENT SAFETY METRICS THAT WE
PROVIDE TO YOU EVERY TIME WE
MEET.
AND IF YOU HAVE ANY QUESTIONS,
DAVID IS HERE, AND YOU CAN ASK
HIM.
YOU DON'T HAVE TO ASK ME.
THIS IS THE REST OF THE AGENDA,
AND DAVID IS NEXT, AND THEN
YOU'LL HEAR AN UPDATE ON OUR NIH
CLINICAL CENTER WEBSITE REDESIGN
FROM JUSTIN COHEN, AND THEN
WE'LL WRAP UP WITH ANOTHER
DISCUSSION ABOUT GENETICS AND
GENOMICS FROM DR. BILL GAHL,
WHO'S THE FORMER CLINICAL
DIRECTOR FOR THE NATIONAL HUMAN
GENOME RESEARCH INSTITUTE.
AND HE'S BEEN THE DIRECTOR OF
THE UNDIAGNOSED DISEASES PROGRAM
SINCE ITS INCEPTION, AND SO --
AND I THINK THEN WE HAVE CLOSING
REMARKS AND WE HAVE ONE MORE
PICTURE HERE, ONE MORE SLIDE.
SO THIS IS DR. GAHL AS HE
APPEARS IN WASHINGTONIAN
MAGAZINE.
WE'VE NEVER SEEN BILL LOOK LIKE
THAT, BUT IT MAKES FOR A GREAT
PICTURE.
OKAY?
ANY QUESTIONS ABOUT THE UPDATE?
>> I HAD A COMMENT.
ONE TO SHARE KUDOS TO YOU IN
PARTICULAR.
LISTENING TODAY IN TERMS OF THE
PRESENTATION, THERE'S A THREAD
THAT MAKES I THINK THE CLINICAL
CENTER VERY FORTUNATE TO HAVE
YOUR LEADERSHIP, FROM YOUR STORY
ABOUT MAKING SURE THAT VAN TOOK
HIS MONTH LEAVE BEFORE HE CAME
ON BOARD, AND THEN THE CLINICAL
CENTER FELLOW CELEBRATION, AND
THEN FINALLY, I MEAN, IT'S
PRETTY INNOVATIVE TO HAVE THAT
SUICIDE PREVENTION AND AWARENESS
KINDS OF ACTIVITIES.
SO KUDOS TO YOU FOR YOUR
LEADERSHIP, MAKING SURE THE
STAFF ARE RESILIENT IN THE FACE
OF ALL THESE CHALLENGES.
>> OKAY.
THANK YOU.
>> THE FELLOW GRADUATION, WAS
THAT RECORDED OR PICTURES OR
ANYTHING LIKE THAT?
>> IT WAS BROADCAST.
I DON'T KNOW WHETHER IT WAS
RECORDED, BUT WE CAN FIND OUT.
>> DR. SAMITT.
>> THANK YOU AS WELL FOR A
WONDERFUL UPDATE.
IT'S EXCITING TO HEAR THE VERY
THOUGHTFUL AND COMPASSIONATE WAY
THAT YOU LEAD THE CENTER.
SO CONGRATULATIONS ON ALL OF
THAT.
MY QUESTION IS ACTUALLY ABOUT
THE MASKING DECISION.
AND I SUSPECT THERE WILL BE
ADDITIONAL STUDIES ABOUT THIS,
BUT HAVE WE HAD KIND OF A
RETROSPECTIVE REVIEW OF THE
NON-COVID RELATED RESPIRATORY
INFECTION AMONGST STAFF OR
AMONGST PATIENTS PREPANDEMIC?
AND WHAT'S HAPPENED NOW SINCE
YOU CONTINUE TO WEAR A MASK POST
PANDEMIC?
BECAUSE I SUSPECT, AND I THINK
THIS HAS OCCURRED ELSEWHERE,
THAT WE HAVE ACTUALLY AVOIDED
SECONDARY SORT OF LESS SEVERE
INFECTIONS THROUGH AN ONGOING
MASKING STRATEGY, AND WHETHER
YOU'VE HAD SORT OF THE FORESIGHT
TO THINK ABOUT WHETHER YOU
ACTUALLY COULD HAVE SOME OF
THESE NON-COVID SECONDARY
RESPIRATORY INFECTIONS ONCE YOU
REMOVE A MASKING POLICY.
>> YOUR QUESTION IS REALLY GOOD.
EVERY ONCE IN A WHILE SOMEBODY
WANTS TO BRING UP A RECENT
COCHRANE REVIEW THAT SUGGESTED
THAT MASKING WAS NOT EFFECTIVE.
WE AGREE THAT IF YOU DON'T HAVE
A PROGRAM THAT TRIES TO ENFORCE
COMPLIANCE, AND EVERYBODY GETS
TO DO WHAT THEY WANT TO DO
WITHOUT ANY EFFORTS, WHEN WE
FULLY MASKED, WE WERE VERY MUCH
ON IT.
SO IT WAS A REAL MASKING
PROGRAM.
WE DO HAVE DATA FROM THAT TIME
THAT COMPARES RESPIRATORY
ISOLATES DURING THE TIME WHEN
EVERYBODY WAS MASKING ALL THE
TIME EXCEPT WHEN THEY WERE BY
THEMSELVES TO HISTORICAL TIME
PERIODS WHEN WE WERE STILL
LOOKING FOR -- WE WERE STILL
DOING RESPIRATORY ISOLATES, AND
WE SHOWED THAT THE RESPIRATORY
ISOLATES OF INFLUENZA A AND B
AND RSV AND OTHER VIRUSES WAS
LESS DURING THE TIME THAT WE
WERE ALL WEARING MASKS.
NOW, BASICA BAYESIAN ANALYSIS WD
INDICATE THAT IF THE PRESENCE OF
THE VIRUS ISN'T VERY HIGH, THEN
IT'S GOING TO BE REALLY, REALLY
HARD TO THINK THAT MASKING IS
GOING TO WORK.
BUT WHEN THE PREVALENCE IN VIR
VIRUSES IN THE COMMUNITY GOES
UP, WE HAVE THE ABILITY TO LOOK
AT DATA REGULARLY THAT SUGGEST
THAT, THAT'S WHEN THE MASKS WILL
GO BACK ON IN PATIENT CARE
AREAS.
WE HOPE THAT WE WON'T HAVE TO GO
BACK TO EVERYBODY MASKS ALL THE
TIME, BUT WE DO HAVE SOME DATA
THAT WAS GENERATED IN THE
CLINICAL CENTER BY AN EXCELLENT
MICRO BIOLOGICAL LABORATORIES
ANALYZED BY EPIDEMIOLOGISTS,
IT'S BEEN PUBLISHED, I CAN SEND
YOU THAT, CRAIG, AND LET YOU
TAKE A LOOK AT IT.
BUT PEOPLE STILL WANT TO GO TO
THE COCHRANE REVIEW THAT SAID IT
DIDN'T WORK, AND WE AGREE THAT A
VOLUNTARY MASKING PROGRAM
WITHOUT ANY SORT OF COMPLIANCE
MEASURES OR ENFORCEMENT MEASURES
CANNOT WORK.
>> HELPFUL.
THANK YOU VERY MUCH.
>> I'M ASSUMING THAT IT'S SAFE
TO PRESUME THAT ANY MASKING
REQUIREMENTS THAT PREDATED COVID
SUCH AS DURING CERTAIN
PROCEDURES LIKE SURGICAL OR
CERTAIN PULMONARY PROCEDURES,
THOSE ARE STILL IN PLACE.
>> ABSOLUTELY.
THE FINAL DECISION GOES TO THE
HOSPITAL EPIDEMIOLOGY SERVICE.
IF SOMEBODY HAS AN INFECTION
THAT SAYS THEY NEED TO BE
ISOLATED OR SOMEBODY HAS A
PROBLEM, THEY'VE GOT NO WHITE
CELLS, AND THEN THE HOSPITAL
EPIDEMIOLOGY SERVICE HAS THE
LAST SAY.
>> IT IS INTERESTING THAT THEY
JUST RECENTLY HAVE COME OUT WITH
SOME REALLY ANECDOTAL REPORTS
THAT SINCE THE PERIOD WHEN MOST
OF US MASKED MOST OF THE TIME,
WE LOST WHATEVER IMMUNITY WE HAD
TO THOSE VIRUSES THAT WERE OUT
THERE.
SINCE WE'VE UNMASKED, IT'S BEEN
SAID THAT THE PREVALENCE OF NO
NON-COVID COLDS AND THINGS LIKE
THAT HAS GONE UP, BUT I REALLY
KNOW OF NO RELIABLE DATA THAT
WOULD SAY THAT.
IT'S PEOPLE SAYING, OH, I DIDN'T
HAVE A COLD IN FIVE YEARS AND
NOW I HAVE.
SO NOT REALLY HEAVY-DUTY SCIENCE
AT THIS POINT.
OKAY.
SO AS ADVERTISED, DR. LAN LANG S
GOING TO TELL US ABOUT THE JOINT
COMMISSION REPORT.
>> THANKS.
GOOD MORNING, EVERYBODY, AND
THANKS VERY MUCH, DR. SCHOR AND
THANK YOU VERY MUCH TO THE BOARD
FOR THIS OPPORTUNITY TO SPEAK TO
YOU.
SO AS DR. GILMAN HAD ALLUDED TO,
IN AN ALTERNATIVE TIMELINE, I
MAY HAVE BEEN STANDING HERE
SAYING THAT WE WERE EXPECTING
THE JOINT COMMISSION ANY DAY AND
MAYBE THEY'LL EVEN COME THIS
TUESDAY, BECAUSE OUR PRIOR ONE
WAS THE LAST DAY OF AUGUST IN
2021, SO WE KNEW THAT THEY WOULD
COME SOMETIME IN THE SUMMER.
THAT WAS IN APRIL, SO INSIDE OUR
REPORT, SOME OF OUR PREPARATIONS
THAT WE DID, SOME OF THE THINGS
THAT HAPPENED OVER THE PAST
THREE YEARS, AND THEN WHAT
HAPPENED AT THE SURVEY THAT WE
HAD.
SO LIKE I SAID, WE WERE
EXPECTING AN UNANNOUNCED SURVEY
AND WE WERE THINKING MAYBE
SOMETIME IN THE SUMMER, EARLY
SUMMER, OH, WELL, MAYBE THEY'LL
COME THIS WEEK.
AND I'M GOING TO TALK ABOUT SOME
OF THE THINGS THAT HAPPENED IN
THE PAST AND OUR PREPARATION.
SOME OF THE SPECIFIC THINGS WE
FOUND IN OUR PREPARATIONS IN
SOME OF OUR MOCK SURVEYS THAT
THE HOSPITAL HAS FOCUSED ON AND
CONTINUES TO FOCUS ON, AND THEN
WE'LL AGAIN TALK ABOUT THE
RESULTS THERE AND WHAT GOES
NEXT.
I DO WANT TO SAY THERE'S BEEN A
TREMENDOUS AMOUNT OF WORK BY
EVERYBODY IN THE NIH CLINICAL
CENTER AND ALL OF OUR INSTITUTE
PARTNERS WHO BRING PATIENTS TO
THE CLINICAL CENTER.
IF I WERE TO THANK EVERYBODY WHO
DID WORK ON THIS, IT WOULD TAKE
MORE THAN THE TIME THAT I HAVE,
JUST TO NAME NAMES.
SO I WILL HIGHLIGHT A FEW PEOPLE
ALONG AS WE GO BUT THIS REALLY
WAS TRULY A GROUP EFFORT ACROSS
THE INTRAMURAL RESEARCH PROGRAM.
BUT JUST A QUICK LOOK BACK TO
2021, THOSE WHO WERE ON THE
BOARD, THERE WERE SOME
CONCERNING FINDINGS THAT --
THERE WAS A GROUPING OF
CITATIONS IN MULTIPLE STANDARDS,
ALL THAT HAD TO DO WITH HIGH
LEVEL DISINFECTION, STERILITY
AND JUST CERTAIN INSTRUMENTS
MAKING IT THROUGH THE PROCESS
UNRECOGNIZED AND EVEN AT THE
POINT OF USE, STAFF NOT ALWAYS
RECOGNIZING THIS INSTRUMENT
SHOULDN'T BE USED, SENT BACK,
THOSE TYPES OF THINGS.
SO THAT WAS WHERE A LOT OF WORK
HAPPENED IMMEDIATELY WHILE THEY
WERE HERE, AND AS THEY LEFT BACK
IN 2021, AND THAT WAS A LOT OF
THE FOCUS FOR THE FIRST SEVERAL
WEEKS AND MONTHS AND THEN
ONGOING, AND THEN OF COURSE
THERE WAS OTHER WORK THAT WAS
DONE, AND AN ADDITIONAL HIGH
LEVEL FINDING UNRELATED TO THAT
BUT GOING BACK TO THE 2021
SURVEY HAD TO DO WITH THE
REQUIREMENTS OF THE JOINT
COMMISSION TO HAVE SCREENING FOR
ABUSE AND NEGLECT AND WE WERE
DOING IT AT THE TIME IN
INPATIENTS BUT NOT OUTPATIENTS,
SO BRINGING THAT INTO COMPLIANCE
AS WELL.
SO AFTER 2021, AGAIN, THE BIG
THING WAS THE STERILE
INSTRUMENTS.
SO THERE WAS REALLY AN OVERHAUL
OF OUR STERILE INSTRUMENT
PROGRAM, ONE OF WHICH WAS
ACTUALLY THE DEPARTMENT LED BY
BIBI WHOM WE HEARD EARLIER
RECEIVED AN AWARD AS GREEN
CHAMPION, ALSO REALLY AGAIN A
TREMENDOUS AMOUNT OF WORK BY HER
AND HER STAFF BUT IT WAS MOVED
ORGANIZATIONALLY INTO THE
NURSING DEPARTMENT, AND THAT
REALLY ENSURED THAT THEY HAD A
CLOSE RELATIONSHIP AND THE
SUPPORT THAT THEY NEEDED SO IF
THERE WERE ANY PROBLEMS OR
NEEDS, IT COULD BE ESCALATED
APPROPRIATELY, AND THAT WAS AN
ORGANIZATIONAL CHANGE BUT IT WAS
ALSO JUST AN OVERHAUL OF HOW WE
WERE DOING CERTAIN THINGS.
ALONG WITH THAT WAS MANAGEMENT
OF INSTRUMENTS ON UNITS.
MAKING SURE THAT ONLY THE
SUPPLIES NEEDED WERE ON UNITS,
THAT THEY WEREN'T OVERSTOCKED,
THAT THINGS WEREN'T STUFFED INTO
OUTSIDE OF THE NORMAL INVENTORY
MANAGEMENT, THAT SORT OF THING.
AGAIN ALL OF THIS REQUIRED A
TREMENDOUS AMOUNT OF
COLLABORATION WITH OUR INSTITUTE
PARTNERS IN COLLABORATION WITH
EVERYONE, BECAUSE FOLKS MAYBE
HAD WAYS THEY WERE DOING THINGS
AND REALLY TO BRING EVERYONE
ALONG TO SAY LET'S DO THINGS A
LITTLE BIT DIFFERENTLY JUST SO
WE CAN ALL DO THINGS REALLY,
REALLY WELL.
ALONG THAT LINES, THERE WAS
AGAIN SORT OF IMMEDIATE
AFTERMATH OF THAT PRIOR VISIT,
THERE WAS A NEW TRAINING MODULE
THAT WAS PUT INTO PLACE TO MAKE
SURE EVERYBODY TOOK IT, REALLY
JUST SOME NUTS AND BOLTS WHAT TO
LOOK FOR, WHAT TO RECOGNIZE AT
THE POINT OF USE.
THIS WAS THEN REVISED AND
UPDATED IN 2023 AND IS NOW PART
OF OUR ANNUAL TRAINING
REQUIREMENT.
LIKE I SAID IT WAS A POINT OF
EMPHASIS.
ON THAT OTHER TOPIC THAT I HAD,
THERE WERE SOME UPDATES AND SOME
CHANGES TO TWO OF OUR MEDICAL
ADMINISTRATIVE SERIES POLICIES
HAVING TO DO WITH SCREENING FOR
ABUSE AND NEGLECT AND ALSO SOME
NEW PROCESSES PUT IN PLACE BY
THE CLINICAL CENTER NURSING
DEPARTMENT TO BRING THAT INTO
COMPLIANCE.
SO THAT WAS 2021, AND OF COURSE
AS WE BROUGHT THAT INTO
COMPLIANCE, WE ALSO WERE LIKE
HOW DO WE PREPARE FOR 2024.
AND I DO WANT TO SAY THIS IS ONE
OF THE AREAS WHERE THERE WERE SO
MANY PEOPLE THAT WERE TOO MANY
TO NAME BUT I DO WANT TO
RECOGNIZE IN MY OFFICE KIM
NELSON REALLY TOOK THE LEAD IN
THE PAST YEAR ON A LOT OF THESE
PREPARATIONS.
BUT ONE OF THE THINGS THAT WE DO
IS CALLED A FOCUS STANDARD
ASSESSMENT, SOMETHING PROVIDED
BY THE JOINT COMMISSION WHERE
EACH STANDARD, AND THERE'S
HUNDREDS OF THEM, IF YOU LOOK AT
THE ELEMENTS OF PE PERFORMANCE,T
GETS UP CLOSE TO A THOUSAND,
EACH LOOKS AT DO WE COMPLY WITH
THIS AND HOW DO WE COMPLY WITH
IT.
SO IT INVOLVES CHAPTER COMAM CHS
ASKING THEM, INDIVIDUALS, CAN
YOU LOOK THROUGH THIS IN DETAIL,
HOW DO WE HAVE IT WHERE THERE'S
REQUIRED DOCUMENTATIONS, WHERE
ARE THOSE DOCUMENTS, THAT SORT
OF THING.
THEN WE WOULD MEET MONTHLY TO
SHARE THE FINDINGS NOT JUST TO
REPORT OUT THIS IS WHAT HAPPENED
IN MY CHAPTER, BUT SO THAT WE
COULD SHARE SOME FINDINGS THAT
GO ACROSS CHAPTERS AND SHARE
SOME CHALLENGES REALLY TO MAKE
SURE THAT EVERYBODY HAD WHAT
THEY NEEDED TO WHERE WE NEEDED A
LITTLE MORE HELP, BRIQ THAT
ALONG.
WE DID BRING IN AN OUTSIDE
CONSULTANT TO DO A MOCK SURVEY
OVER THE COURSE OF TWO DAYS BACK
IN FEBRUARY OF 2023, AND THAT
REALLY FELT A LOT LIKE A JOINT
COMMISSION SURVEY.
IN FACT IN SOME WAYS IT WAS A
LITTLE BIT MORE INTENSE.
THEY SAID TO US, YOU KNOW, WE
INTENTIONALLY WILL MAKE THIS
MAYBE EVEN MORE PICKY THAN THE
JOINT COMMISSION WILL BE BECAUSE
WE WANT -- IF THERE'S SOMETHING
TO BE FOUND, WE WANT YOU TO FIND
IT WITH US RATHER THAN FIND IT
WHEN THE SURVEYORS GET HERE.
AND THEN TOOK THOSE FINDINGS AND
DID JUST WHAT WE WOULD DO AFTER
A REGULAR JOINT COMMISSION
FINDING, WHICH IS TO SAY HOW
WOULD WE BRING THINGS INTO
COMPLIANCE, HOW WOULD WE
ACTUALLY SHOW WE ACTUALLY WERE
IN COMPLIANCE, THAT'S SORTS OF
THINGS.
WE LEARNED ALONG THE WAY, SOME
OF THOSE WHO WERE KIND OF CLOSER
TO THE EVENT ITSELF NEEDED SOME
COACHING UP ON REALLY WHAT I
CALL SURVEY MANAGEMENT.
NOT THAT -- THE HOSPITAL IS
DOING EVERYTHING WE'RE SUPPOSED
TO DO BUT HOW CAN WE SHOW THAT,
HOW CAN WE MAKE SURE THAT WE
HAVE THE INFORMATION THAT THE
SURVEYORS WANT AT THE POINT THAT
THEY NEED IT.
HOW DO WE ORGANIZE OUR TEAM SO
THAT WHEN THEY ASK FOR
SOMETHING, WE HAVE THAT
AVAILABLE, THOSE SORTS OF
THINGS.
ALSO BECAUSE OF THE OBVIOUS
CONCERNS ABOUT INFECTION CONTROL
AND THE PAST FINDINGS, WE THEN
HAD A SECOND JUST FOCUSED JOINT
COMMISSION -- I'M SORRY --
FOCUSED INFECTION CONTROL FOCUS
SURVEY WITH AN OUTSIDE -- THE
SAME GROUP OF OUTSIDE
CONSULTANTS BUT WITH A PERSON
WHO WAS AN EXPERT IN INFECTIOUS
DISEASES REALLY FOCUSED ON --
ALL OF THESE CHANGES AND ALL THE
STUFF THAT YOU'VE FOCUSED ON
SINCE 2021, HOW HAS THAT GOTTEN
YOU, HOW HAVE WE DONE.
SO WE CAN GET HER FEEDBACK.
AS IT TURNS OUT COINCIDENTALLY,
WAS ABOUT TWO WEEKS BEFORE THE
SURVEY ACTUALLY CAME.
SO THAT WAS GO GOOD.
IN ADDITION WE HAD AN INTERNAL
MOCK SURVEY WHERE AGAIN KIM
HELPED ORGANIZE THIS AND WE SAID
WE'RE NOT GOING TO BRING IN
OUTSIDER, WE'RE GOING TO BE THE
SURVEYORS.
SO SOME OF US ACTED IN THE ROLE
OF SURVEYORS, OTHERS DID WHAT WE
WOULD DO IN THE REAL THING, AND
WE REALLY HAD A PRACTICE OF SOME
OF THE SESSIONS AGAIN, SO THAT
WHEN WE'RE TALKING, WHAT KIND OF
ANSWERS, NOT HOW TO ANSWER BUT
WHAT INFORMATION WILL THEY ASK
FOR SO THAT WE'RE READY TO
ANSWER APPROPRIATELY.
AND ALL THAT KIND OF WAS A WAY
TO GET US READY BOTH TO LOOK AT
WHERE WE WERE AS A HOSPITAL AND
ALSO TO BE KIND OF READY FOR THE
SHOW, SO TO SPEAK, THEN THE
JOINT COMMISSION WOUND UP
COMING.
IN ADDITION TO THIS, WE'VE HAD
LEADERSHIP SAFETY ROUNDS,
SOMETHING THAT THE EXECUTIVES
GO -- WE WERE GOING THREE GROUPS
WERE GOING IN PAIRS AROUND THE
HOSPITAL, EACH TUESDAY, WE WOULD
PICK A UNIT OR TWO FOR EACH
DWREUP TO GO TGROUP TO GO TO ANH
THE STAFF, ASK THEM WHAT ARE
YOUR SAFETY CONCERNS, WHERE DO
YOU SEE THAT WE NEED TO DO SOME
WORK, WHAT WOULD YOU LIKE TO
TELL US, AND ONE OF THE POINTS
OF EMPHASIS THAT WE'VE NOTICED
IS THIS MEDICATION MANAGEMENT,
OR THIS SUPPLY MANAGEMENT SO WE
WANT TO TALK TO YOU A LITTLE BIT
ABOUT THAT AS WELL, SO REALLY AN
INTERACTIVE CONVERSATION.
THAT'S NOW GOING ON AGAIN, WE
KIND OF TOOK A SMALL BREAK RIGHT
AFTER THE JOINT COMMISSION CAME
AND NOW WE'VE RESTARTED THAT.
TRACERS ARE WHERE THERE IS A
SPECIFIC LOCATION OR SPECIFIC
JOINT COMMISSION SET OF
STANDARDS, WE'RE GOING TO GO TO
THIS AREA AND REALLY GO THROUGH
WHAT HAPPENS IN THE KICH EB,
WHKITCHEN,WHAT HAPPENS IN THIS E
SAW THE LIFECYCLE OF A BLOOD
TRANSFUSION, DO A TRACER OF
THOSE AND THEN THE SURVEY -- TO
PROVIDE STAFF WITH INFORMATION
THEY NEEDED.
AND THEN THINGS MAYBE MORE
INDIVIDUALIZED, SO SAFETY
MOMENTS AT ALL SORTS OF
MEETINGS, POINTS OF EMPHASIS,
SENDING OUT EMAILS WITH
INFORMATION.
SO ALL THIS WAS LEADING TO OUR
PREPARATIONS, AND THEN WE ALSO
NOTICED THERE WERE SOME
REQUIREMENTS THAT WERE NEW
EITHER THIS YEAR OR NEW OVER THE
PAST FEW YEARS, BUT SINCE OUR
PRIOR SURVEY.
TWO OF THEM THAT I WANT TO
HIGHLIGHT IS THAT THERE WAS --
THE JOINT COMMISSION IS VERY
INTERESTED IN -- AND CONCERNED
ABOUT WORKPLACE VIOLENCE
PREVENTION AND THIS INCLUDES
BOTH PHYSICAL SAFETY BUT ALSO
PSYCHOLOGICAL SAFETY OF THE
STAFF.
WE'VE TALKED ABOUT BEING ON A
FEDERAL CAMPUS AND HAVING GATES
AND GUARDS.
WE MIGHT BE A LITTLE BIT LESS
SUSCEPTIBLE TO CERTAIN THINGS
THAT COULD HAPPEN AT OTHER
HOSPITALS, BUT FROM THE
PSYCHOLOGICAL SAFETY, IT'S
EQUALLY IMPORTANT AS WELL AS THE
PHYSICAL SAFETY.
SO THAT'S PART OF THE LEADERSHIP
CHAPTER, AND WE ACTUALLY HAVE
WHAT THE STANDARDS ARE,
INCLUDING HAVING A WORKPLACE
VIOLENCE PREVENTION PROGRAM
THAT'S LED BY A DESIGNATED
INDIVIDUAL, SO OUR COO AND OUR
CNO ARE THE CO-LEADERS OF THE
WORKPLACE VIOLENCE PREVENTION
PROGRAM.
AND THAT INCLUDES MANY -- WE MAY
HAVE A SEPARATE PRESENTATION ON
ALL THE THINGS THAT HAVE BEEN
PUT IN WITH THAT.
AND THEN HEALTHCARE DISPARITIES
IS A BIG INTEREST OF THE JOINT
COMMISSION AND ANOTHER ONE IS A
STANDARD OF A NATIONAL --
THERE'S SIX SEPARATE -- WE DID
HAVE A PRESENTATION AT THIS
BOARD BY OUR CMO BACK IN
FEBRUARY, I BELIEVE IT WAS, ON
SOME OF THE DATA THAT WE WERE
LOOKING AT.
SO JUST TO LOOK AT SOME OF THOSE
MOCK SURVEY FINDINGS AND WHAT WE
WERE WORKING ON AND DO NEED TO
WORK ON, SAID WE NEED TO WORK ON
WHETHER THE JOINT COMMISSION
NOTICED THEM OR NOT.
AS I SAID, IT'S AB ONGOING
JOURNEY WITH THE STERILE
INSTRUMENTS.
WE HAVE TREMENDOUS CHANGES,
TREMENDOUS IMPROVEMENTS SINCE
2021, BUT REALLY JUST
MAINTAINING THAT, MAKING SURE
THAT THE MANAGEMENT OF THE ITEMS
ON THE FLOOR, ONLY STUFF THAT'S
NOT EXPIRED AND APPROPRIATE FOR
USE WINDS UP ON THE FLOOR, AND
AS I MENTIONED, THERE WAS AN
UPDATED TRAINING THAT'S NOW PART
OF OUR ANNUAL TRAINING PRACTICE.
THE STERILE PROCESSING
DEPARTMENT HAS A BRAND NEW SPACE
AND THAT'S JUST HAPPENED OVER
THE PAST FEW MONTHS INCLUDING
SOME NEW EQUIPMENT.
THIS HAS TO DO WITH THE WORK
SPACE OF THE PEOPLE THAT ARE
INSPECTING INSTRUMENTS, THE
LIGHTING THAT THEY HAVE, THE
TYPES OF MAGNIFICATION THEY
HAVE, CERTAIN THINGS LIKE A
BOROSCOPE THAT ALLOWS EVEN A
BETTER LOOK INSIDE OF
INSTRUMENTS, SO REALLY A TOTAL
CHANGE OF THEIR PRACTICE THAT IS
GOING TO MAKE GREAT
IMPROVEMENTS.
AND THEN SOME OF THE OTHER
THINGS THAT WE HAD NOTICED
WEREN'T 100% CONSISTENT, SO HOW
WE DOCUMENT CERTAIN HOME
MEDICATION MANAGEMENT.
ONE OF THE THINGS THAT WAS FOUND
ON THE MOCK SURVEY WAS THAT EVEN
THOUGH THE ROOMS MIGHT LOOK
CLEAN, THERE WERE CERTAIN
CONSULTANTS CALLED HARD TO REACH
OR HARD TO SEE AREAS, SO THE
TOPS OF CERTAIN CABINS,
ESPECIALLY THOSE THAT HAVE LIPS
THAT YOU HAVE TO KIND OF GO OVER
AND MAKE SURE THOSE THINGS ARE
BEING CLEANED AND DUSTED WELL.
WE WERE IN THE PROCESS OF
UPDATING FOR OUR PATIENTS OUR
SUICIDE SCREENING, AND THAT'S --
THIS GOES BACK TO A YEAR AGO
NOW, SO THAT'S NOW SINCE BEEN
UPDATED, AND AS I MENTIONED,
THOSE NEW REQUIREMENTS THAT I
MENTIONED ON THE PRIOR SLIDE.
AND THEN WE DID OUR INTERNAL
MOCK SURVEY IN 2024, AND SOME OF
THE THINGS WE NOTICED AGAIN WERE
IN THAT ENVIRONMENT, THINGS GET
VERY DIFFICULT WITH LIMITED
SPACE, AND PEOPLE WILL SEE A
ROOM THAT DOESN'T SEEM TO HAVE A
LOT OF STUFF, WHERE DO I PUT
THIS, I'LL JUST PUT THIS THERE,
WE WANT TO BE CAREFUL AND BE
SURE THAT CLEANED ITEMS ARE
LABELED AS SUCH AND HOW WOULD I
KNOW THAT IF I LOOK AT THIS,
IT'S READY TO GO, VERSUS USED
ITEMS ARE SOMEWHERE ELSE AND HOW
DO I LOOK AT THIS AND KNOW IT'S
NOT READY TO GO, MAKING SURE
THAT EXPIRED THINGS ARE A WAY --
REALLY A LOT OF -- IN SOME WAYS
VERY SPECIFIC THINGS.
I WON'T SAY NITPICKY BUT VERY
SPECIFIC THINGS.
AS I MENTIONED PART OF OUR MOCK
SURVEY THAT WAS INTERNAL WAS HOW
ARE OUR SIT DOWN SESSIONS GOING
TO GO, HOW CAN WE ENSURE THAT WE
ARE BOTH DOING PROCESS
IMPROVEMENT PROJECTS BUT ALSO
ARTICULATING THEM AND THAT OUR
STAFF CAN ARTICULATE THEM.
SO THAT WAS PART OF OUR
PREPARATION.
THEN FINALLY THE JOINT
COMMISSION DID IN FACT ARRIVE A
LITTLE EARLIER THAN EXPECTED BUT
THAT WAS APRIL 9TH THROUGH 11TH.
THEY SENT A PHYSICIAN, A NURSE
AND A LIFE SAFETY EXPERT.
THE PHYSICIAN AND NURSE COMBINED
TO GO TO ALMOST ALL OF THE
CLINICAL LOCATIONS THROUGHOUT
THE HOSPITAL AND THE LIFE SAFETY
ENGINEER LOOKED AGAIN FOR
ENVIRONMENTAL LIFE SAFETY THINGS
REALLY EVERYWHERE.
SOMETIMES LIKE WOW, HE REALLY
DID GO EVERYWHERE AND WE'LL SEE.
AS IS THE JOINT COMMISSION'S
PRACTICE, THERE WAS SIT-DOWN
SESSIONS, THEY HAVE A NEW WAY OF
DOING IT CALLED THE ORGANIZATION
QUALITY AND PERFORMANCE
IMPROVEMENT SESSION WHERE THEY
ASK YOU WHAT KIND OF DATA TO WE
FOLLOW, HOW DO WE ENSURE THE
ORGANIZATION IS MEETING OUR
QUALITY GOALS, DISCUSSION WITH
LEADERSHIP ABOUT THE HOSPITAL
AND THE CULTURE, REALLY THE
CULTURE OF PATIENT SAFETY, AND
COMPETENCY AND EMERGENCY
MANAGEMENT.
SO THIS IS WHAT THEY CALL THE
SAFER MATRIX, WHERE YOU CAN SEE
THESE ARE THE STANDARDS FOR
WHICH THERE WAS AN OBSERVATION
THAT THEY SAID ONE OBSERVATION,
THIS DIDN'T MEET THE STANDARD.
SO THERE WERE 18 STANDARDS WITH
22 INDIVIDUAL OBSERVATIONS THAT
WERE FOUND, AND FOR THOSE WHO
AREN'T AS FAMILIAR WITH THIS, AS
YOU GET HIGHER UP ON THE
VERTICAL HERE, AS YOU GET TO THE
RED OR THE KETCHUP, THOSE ARE
CONSIDERED HIGH.
WE HAVE NONE IN THE INTIMATE
THREAT TO HEALTH OR SAFETY WHICH
IS SORT OF THE DEEP RED, SIRI
THERE, REALLY RELATIVELY FEW IN
THE HIGH, OVER TO THE LEFT TO
SOMETHING THAT'S MORE
WIDESPREAD.
SO I'M GOING TO GO OVER JUST
SOME OF THE CLINICAL ONES AND
THE HIGHER ONES.
I WILL SAY THAT ALTHOUGH
OBVIOUSLY CONCERNING TO HAVE
ANYTHING IN THOSE, THESE WERE
VERY TARGETED AND SPECIFIC ONES
THAT WE'VE ALREADY ADDRESSED.
WE'LL SEE THERE'S A LOT
RELATIVELY OF THE PROPORTION
SEEN, MANY OF THEM ARE IN THE EC
OR LS, WHICH IS ENVIRONMENT CURE
OR LIFE SAFETY CHAPTER.
THESE ARE EVERYTHING FROM A DOOR
THAT'S SUPPOSED TO BE
SELF-LOCKING NOT BEING
SELF-LATCHING AND THAT GOT FIXED
ON SITE, OR DUE TO CERTAIN
CONSTRUCTION THAT WAS GOING ON,
SOMEBODY PUT A BOX IN FRONT OF A
FIRE EXTINGUISHER AND THAT'S
OBVIOUSLY NOT GOOD, SO MAKING
SURE THAT THAT'S TAKEN CARE.
AND CERTAIN THINGS THAT WE ARE
TRYING TO ADDRESS WITH OUR
HOUSEHOLD PARTNERS.
THERE ARE SOME OFFICES AND CALL
ROOMS THAT ARE EITHER ON PATIENT
CARE UNITS OR ADJACENT TO
PATIENT CARE UNITS, AND BEING AS
SUCH EVEN THOUGH THEY MIGHT BE
SOMEBODY'S OFFICE, PAUSE OF
WHERE BECAUSE OFWHERE IT IS, ITE
HEALTHCARE SAFETY CODES THAT ARE
A LITTLE MORE STRINGENT AS FAR
AS FIRE PREVENTION AND THINGS
LIKE THAT.
SO WE'VE CLARIFIED -- YOU CAN'T
BRING THAT EXTENSION CORD IN FOR
YOUR -- YOU CAN'T HAVE THESE
TYPES OF THINGS OR WHAT CAN YOU
HAVE IN THOSE TYPES OF ROOMS.
THAT'S ACTUALLY AN
ADMINISTRATIVE POLICY THAT'S
BEEN UPDATED AND CLARIFIED AND
WE'LL HAVE TO BE SURE THAT THAT
IS GOING -- IT'S ONE OF THOSE
THINGS THAT REQUIRES CONTINUOUS
MOMONITORING BECAUSE THAT MIGHTE
SOMEBODY'S OFFICE WHO MIGHT NOT
BE THINKING MUCH ABOUT THIS,
CAN'T I JUST BRING THIS IN, SO
WE'LL HAVE TO LOOK AT THAT.
ON THE NEXT SLIDE, I'LL GO INTO
SOME OF THE HIGHER ON THE
CLINICAL ONES.
IN THE DATA AND PROCESS
IMPROVEMENT, I TALKED A LITTLE
ABOUT THIS BEFORE, THESE ARE THE
TYPES OF THINGS THEY ASKED US TO
SHARE WHAT OUR PRIORITIES ARE,
WHAT OUR PI PROJECTS ARE, TALK
ABOUT THE CULTURE OF SAFETY, AND
WE SHARED WITH THEM SOME OF OUR
IMPROVEMENT PROJECTS AND ONGOING
MONITORING OF THINGS LIKE FALLS,
INFECTION CONTROL, MEDICATION
MANAGEMENT, SURGICAL STATISTICS.
A LOT OF IT IS THE DATA THAT WE
PROVIDE THE BOARD EVERY QUARTER,
AND THAT GETS POSTED PUBLICLY ON
OUR WEBSITE EVERY QUARTER.
ONE, WE WERE VERY PROUD OF --
AND I THINK IT WAS ALSO
PREVIOUSLY PRESENTED HERE, OF
HOW ONE OF THE PEDIATRIC
BEHAVIORAL HEALTH UNITS REALLY
CHANGED THE PATIENT POPULATION
THAT THEY WERE SEEING WITH DR
DR. GINA MOONINGHAM AND HOW
BEFORE THAT HAPPENED, ALL THE
EVALUATION THAT WENT IN TO
IMPLEMENT THAT.
AND THEN THEY SHARED THESE
GENERAL OBSERVATIONS, VERY PROUD
AT THE END THEY HAD A CLOSEOUT
MEETING, THEY SAID WE'RE VERY
IMPRESSED WITH THE HOSPITAL AND
THE STAFF, THEY FELT INSPIRED BY
THE MISSION.
SOMEBODY SAID IT WAS THE
CLEANEST KITCHEN I HAVE EVER
SEEN, SO I WANTED TO HYPE THAT
FOR OUR NUTRITION STAFF.
AND EVEN WHEN THERE WAS A
PATIENT, AS YOU KNOW, ALL OF OUR
PATIENTS ARE GOING TO BE
COMPLICATED, SOME HAVE TO BE
TRANSFERRED TO ANOTHER HOSPITAL
AND THEY FOUND BASED ON THE
RECORD, IT WAS VERY IMPRESSIVE
HOW THAT WENT.
OVERALL, STAFF WAS VERY WELL
ENGAGED.
I SAW THIS MYSELF WHEN I WENT
WITH SOME OF THE -- WHEN I WENT
WITH ONE OF THE SURVEYORS, HOW
ENGAGED AND REALLY THE STAFF
WERE VERY WELL PREPARED TO SPEAK
ABOUT THEIR UNIT.
AND REALLY WERE ABLE TO SHOW OFF
THE EXCELLENT CARE BUT ALSO THE
TEAM WORK THAT WE HAD.
SO I WAS MYSELF MOST GRATIFIED
BY THE MULTI-DISCIPLINARY
COLLABORATION THAT WAS REALLY ON
DISPLAY ALL THE WAY AROUND.
SO ONE OF THE THINGS WE HAD TO
DO WAS PROVIDE TO THEM A
RESPONSE TO EACH OF THOSE ITEMS.
AGAIN I'M NOT GOING TO GO
THROUGH EVERY SINGLE ONE OF THEM
BUT SOME OF THE HIGHER LEVEL
ONES.
IN THE MEDICATION MANAGEMENT,
ONE WAS AN EXPIRED VIAL OF
CONTRAST THAT WAS FOUND SORRY
ABOUT THAT TYPO IN A CABINET.
AND BASICALLY THIS WAS SOMETHING
THAT WAS EASY TO FIX BECAUSE IT
WAS SOMETHING THAT WAS BEING
STORED OUTSIDE OF THE OMNICELL,
THE AUTOMATIC DISPENSING
CABINET, SO WHAT WE SAID WAS
UNLESS THERE'S A COMPELLING
REASON FOR THIS TO BE OUTSIDE OF
THE CABINET, THEN IT SHOULD BE
IN THE CABINET, AND FOR THINGS
FOR WHICH THERE IS A COMPELLING
REASON, FOR EXAMPLE, CERTAIN
EMERGENCY CARTS OR EMERGENCY
BOXES, THOSE NEED TO HAVE A
SPECIFIC LOG CHECKS.
SO THIS WAS -- THEY HAVE TO DO
WITH A TYPE OF CONTRAST, IT SORT
OF FELL OUTSIDE OF ALL OF THOSE,
AND IT WAS JUST MORE --
HISTORICALLY IT HAD BEEN STORED
IN A CABINET, SO NOW IT'S BACK
IN THE OMNI CELL SO THAT WON'T
BE A CONCERN ANYMORE, SO ONCE
IT'S THERE, IT'S PART OF THE
PHARMACY INVENTORY MANAGEMENT
AND ROTATION, AND AGAIN WE JUST
DOUBLED DOWN ON ENSURING
EVERYWHERE THAT THERE'S A
MEDICATION, THAT FOR WHICH THERE
IS A COMPELLING REASON NOT TO BE
IN THE OMNICELL TO MAKE SURE
THOSE ARE LOGGED AND CHECKED, SO
THE SECOND ONE GOT HIGHLY
TECHNICAL, SO WE'RE FORTUNATE TO
HAVE ENGINEERS BOTH ON THE BOARD
AND EVEN IN THE LEADERSHIP, BUT
THIS REQUIRED SOME WORK WITH OUR
NEW CHIEF OF PHARMACY,
DR. GABRIEL, AND OUR FACILITIES
FOLKS UNDER DAN WHEELAND, I
WON'T GO THROUGH ALL OF THE
DETAILS BUT WHAT THIS GETS TO IS
THAT FOR A PHARMACY ROOM WHERE
THEY'RE PROVIDING HAZARDOUS AND
STERILE -- SO MEDICATION THAT'S
BOTH HAZARDOUS AND STERILE, THE
AIR PRESSURE ALLOWABLE RANGE OF
THE PURE PRESSURE DIFFERENTIALS
IS VERY NARROW BECAUSE WE DON'T
WANT BAD STUFF GETTING OUT AND
POTENTIALLY HARMING OTHER
PEOPLE, BUT IF IT'S STERILE, WE
DON'T WANT ANYTHING GETTING IN
THAT CAN POTENTIALLY CONTAMINATE
THE MEDICATION.
SO THE USP800 HAS A VERY NARROW
RANGE.
IN OUR EXUR CURRENT FACILITY, IS
NOT 100% POSSIBLE TO MAKE SURE
THAT'S MET ALL THE TIME HOWEVER,
WE HAVE OTHER CONTROLS IN PLACE
THAT DO MEET THE GUIDELINES IN
USP800 THAT AS LONG AS THERE ARE
OTHER CONTROLS.
ONE, WE HAVE A MORE COMPLEX
SYSTEM SO BEFORE IT ARE GETS TO
THE MORE GENERAL PUBLIC, THERE'S
ANOTHER TYPE OF ROOM AND THAT,
BECAUSE OF HOW THAT'S
PRESSURIZED, THAT WOULD KEEP OUT
ANYTHING ANY FURTHER BUT ALSO
PREVENT ANYTHING FROM GETTING IN
FROM THE OUTSIDE.
SO ALL TOLD, IT WAS DETERMINED
THAT WE HAVE CONTROLS IN PLACE,
THE OTHER THING IS HOW WE USED
TO BE ON USE DAY CONSIDERATIONS,
AGAIN TO MITIGATE THE POTENTIAL
IMPACT ON THE PRODUCTS.
SO AGAIN, THE BOTTOM LINE IS
THAT WE'RE CONFIDENT THAT THE
PRODUCTS ARE MAINTAINING THE
APPROPRIATE LEVEL OF STERILITY
THAT THE SAFETY TO STAFF HAS
ALSO BEEN MAINTAINED, AND THEN
IN THE PI V ALL.
, THE SORT OF NEWER STANDARDS
WILL ALSO BE CONSIDERED, SO ALL
TOLD, THIS SITUATION IS UNDER
CONTROL.
AND TO SORT OF SHARE WITH ALL OF
THESE, THE RESPONSE WE SENT BACK
TO THE JOINT COMMISSION WAS DUE
EARLIER IN JUNE AND I JUST
LEARNED YESTERDAY THAT THEY HAD
ACCEPTED ALL OF OUR RESPONSES,
AND SORT OF GET TO THE PUNCH
LINE THAT ALL OF THOSE THINGS
THAT WERE LISTED ARE NOW LISTED
AS COMPLIANT, AND THERE ARE NO
OTHER -- THE JOINT COMMISSION
DID NOT COME BACK WITH ANY
FURTHER REQUEST FOR INFORMATION
OR IMPROVEMENT.
SO WE'RE IN GOOD SHAPE THERE.
AND THEN THE THIRD ONE HAD TO DO
WITH MEDICATION TITRATION
ORDERS, HOWL IT WAS FOLLOWED,
THAT'S SOMETHING THAT CLINICAL
CENTER NURSING DEPARTMENT AND
OUR -- WORKED TOGETHER TO ENSURE
THAT ORDERS ARE WRITTEN IN A
CLEAR WAY AND THAT THE PRACTICE
IS SUCH THAT THEY'LL BE FOLLOWED
APPROPRIATELY.
IN THE INFECTION CONTROL REALM,
THIS HAD TO DO WITH -- THERE'S
TEST STRIPS IN THE INSTRUMENT
WASHERS IN THE STERILE
PROCESSING, AND WHEN YOU SEE RED
SPATTERING, IT MEANS THERE'S
SOMETHING WRONG, YOU NEED TO FIX
SOME HOSES, CLEAN OUT SOME
HOSES, TEST IT AGAIN, AND WHEN
THEY'RE LILI WHITE, THEY'RE
FINE, AND THEN THE QUESTION IS
WHAT IF THERE'S LITERALLY ONE
SPEC OF PINK ON IT?
SO WE CONFERRED WITH THE
WASHER/VENDOR, THEY ACTUALLY
RECOMMENDED THAT THAT HAPPENS,
DEPENDING ON HOW THE STRIP IS
LOADED, IT CAN BE BENT A LITTLE
BIT, THAT SORT OF THING, SO
THEY'VE ADJUSTED THAT PRACTICE
AND ALSO MODIFIED THE PRACTICE
TO BE CLEAR THAT IF THERE'S
ANYTHING, EVEN A SINGLE SPEC,
THAT THEY DO THE STEPS
RECOMMENDED BY THE VEN, DO WHICH
TYPICALLY IS TO FIRST CHECK THE
HOSES AND THEN RE-TEST IT,
BECAUSE THAT USUALLY TAKES CARE
OF THEM.
AND THEN OF COURSE IF IT
CONTINUES TO SHOW THAT THERE'S A
PROBLEM, THEN YOU DID AHEAD AND
FIX THAT.
THAT PRACTICE HAS CHANGED.
AND THEN REHAB MEDICINE, THIS IS
ACTUALLY A LOWER LEVEL FINDING
BUT UNDER INFECTION CONTROL, IT
HAD TO DO WITH THAT THERE'S A
RULE THAT IF YOU'RE GIVING FOOD
TO PATIENTS THAT IT HAS TO MEET
CERTAIN INFECTION CONTROL
STANDARDS AND WHAT ABOUT IF IN
THERAPY, PART OF THERAPY IS TO
SEE IF WE SENT YOU HOME, WOULD
YOU BE ABLE TO MAKE YOUR OWN
FOOD OR IT MIGHT BE PART OF
MENTAL HEALTH THERAPY, SOME
OCCUPATIONAL THERAPY, SO FOR
NOW, WE'RE NOT LETTING FOLKS EAT
THAT BECAUSE THAT'S CONSIDERED
FOOD PROVIDED BY THE HOSPITAL
UNTIL WE CAN BE SURE THAT WILL
IT WOULD MEET THE SAME STANDARDS
OF THAT COMING OUT OF OUR
KITCHEN.
IF AND THEN THE PROVISION OF
CARE, THIS HAD TO DO WITH RULES
THAT IF A PERSON IS HAVING AN
OUTPATIENT PROCEDURE, IF THEY'RE
IN THE HOSPITAL, THE PRESUMPTION
IS WE'VE SEEN THEM, DOING
HISTORY AND PHYSICAL, WE'RE
DOING DAILY PROGRESS NOTES, WE
KNOW WHAT'S HAPPENING WITH THEM.
IF THEY'RE AN OUTPATIENT, EVEN
IF I SAW THEM LAST WEEK AND THEN
THEY COME IN TODAY FOR A
PROCEDURE, HOW DO I KNOW
SOMETHING DIDN'T HAPPEN IN THE
PAST WEEK?
I'M SUPPOSED TO VERIFY THAT
TODAY.
WE HAD ONE WHERE IT HAD BEEN
VERIFIED THE EVENING BEFORE, SO
AGAIN MAYBE A LITTLE NITPICKY
BUT TO MEET THE STANDARD, OUR
HOSPITAL INFORMATION MANAGEMENT
FOLKS ARE ENSURING ONE
REINFORCING THE POLICY BUT ALSO
THERE'S AN OPPORTUNITY TO
DOCUMENT THAT WE REVIEWED THE
H & P AND THERE'S EITHER NO
UPDATES OR THESE ARE THE
UPDATES.
SO JUST SOME CLOSING THOUGHTS.
ACCREDITATION IS A VALIDATION OF
OUR OUTSTANDING WORK, AND ALL
THE IMPROVEMENTS AND DILIGENCE
WERE EVIDENT IN THAT THE SURVEY
WAS SUCCESSFUL, BUT ALSO WE
RECOGNIZE FROM OUR OWN WORK AND
OUR OWN CONSULTANT THAT THERE'S
A LOT OF THINGS, IT'S REALLY
ABOUT A MAINTENANCE OF
IMPROVEMENTS, IT'S NO THE A
SINGLE TIME THING.
SO EVEN THOUGH THE SURVEY ITSELF
IS A SINGLE THREE-DAY PERIOD,
IT'S NOT MEANT TO BE A SINGLE
POINT IN TIME BUT AN ONGOING
THING, AND REALLY WE'RE NOT HERE
TO SAY WE PASSED A TEST, BUT
REALLY TO BE SURE THAT WE'RE
GIVING OUR PATIENTS THE NEXT
CARE POSSIBLE.
SO OUR MESSAGE IS GOING TO BE TO
EVERYBODY, TO THE BOARD AND TO
OUR STAFF AND TO OUR LEADERSHIP,
IS THAT IT'S NOT ABOUT OKAY,
WE'RE DONE, BUT WHAT ARE WE
GOING TO CONTINUE TO DO?
THAT WE HAVE CLEAR COMMUNICATION
DOCUMENTATION, CONTINUING THESE
IMPROVED PROCESSES THAT WE'VE
PUT IN PLACE, MAKING SURE THE
TRAINING AND PREPARATIONS ARE
ONGOING, AND PROCESS IMPROVEMENT
IS ONGOING AND MOST IMPORTANTLY,
CONTINUING OUR ENGAGEMENT AND
COLLABORATION.
WITH THAT, I THINK THAT WAS MY
LAST SLIDE.
>> GREAT.
QUESTIONS FOR DR. LANG?
>> THIS MAY NOT BE A QUESTION
YOU CAN ANSWER BUT HOW DO WE
KNOW EVERYTHING -- THAT THERE'S
NOTHING THAT'S EXPIRED HERE?
IT'S OBVIOUS --
>> SO THE PHARMACY HAS AN
INVENTORY MANAGEMENT PROGRAM
THAT -- OR PROCESS.
SO I MEAN, HOW CAN YOU GUARANTEE
EVERYTHING, BUT THEY HAVE A --
YEAH.
OTHER QUESTIONS?
OKAY.
THANKS VERY MUCH.
>> THANK YOU VERY MUCH.
>> WE ARE SCHEDULED TO TAKE A
BREAK AT THIS POINT, SO I WOULD
SAY AT 11:40, ABOUT 20 MINUTES
FROM NOW, WE WILL RESUME.
WE ARE RECOULD RECONVENING AS
POINT AND WE ARE GOING TO HAVE A
REPORT FROM JUSTIN COHEN ABOUT
THE REDESIGN OF THE CLINICAL
CENTER WEBSITE.
>> HELLO, I'M JUSTIN COHEN,
CHIEF OF COMMUNICATIONS, MEDIA
RELATIONS AND PATIENT
RECRUITMENT AT THE CLINICAL
CENTER, HERE TO GIVE YOU AN
ADVANCED PEEK AT OUR NEW
WEBSITE.
THANK YOU FOR THE OPPORTUNITY TO
SHARE OUR WORK WITH ALL OF YOU.
AND I EMPHASIZE "OUR" BECAUSE IT
REALLY IS A BIG GROUP EFFORT,
BOTH WITHIN MY TEAM AND
THROUGHOUT THE CLINICAL CENTER.
AND SO WITH THAT, I ALSO WANT TO
HIGHLIGHT THAT IN THE ROOM IS MY
DEPUTY, DONOVAN KEENE, IN THE
DRIVER'S SEAT OPERATING THE
SLIDES, THOUGH SHE DOES A HECK
OF A LOT MORE, IS CINDY FISHER,
OUR WEB AND SOCIAL MEDIA LEAD.
I'VE ENCOURAGED THEM TO CHIME IN
IF I MISSPEAK OR IF THERE'S
QUESTIONS AT THE END THAT ARE
OVER MY HEAD, THEY'LL BE ABLE TO
CONTRIBUTE.
MY FOCUS WILL BE REALLY ON THE
FIRST COUPLE OF THINGS, GIVING
YOU THE FRAMEWORK FOR OUR NEW
WEBSITE, AND A DEMO OF THE HOME
PAGE.
AND I'LL BREEZE THROUGH THE LAST
TWO YOU BULLETS.
OUR WORK STARTED IN OCTOBER.
WE HAD AWARDED A CONTRACT TO A
VENDOR KNOWN AS ARCH IN THE
EARLY FALL.
IT WAS COMPETED THROUGH WOMEN
AND MINORITY OWNED SPECIAL
CONTRACTING VEHICLE.
ARCH HAS BEEN A FANTASTIC
PARTNER IN THIS PROCESS SO FAR.
SO THERE'S A LOT OF WILL AND
INITIATIVE BEHIND THIS REDESIGN,
BUT THERE'S ALSO SOME FORCING
FUNCTIONS.
NAMELY, ADHERENCE TO NEW
GOVERNMENT POLICIES ON WEB
DESIGN AND EVOLVING 508
COMPLIANCE.
THE GOVERNMENT POLICIES I'M
REFERRING TO IS THE PASSAGE IN
2018 OF THE 21ST CENTURY IDEA
ACT.
THE INTEGRATED DIGITAL
EXPERIENCE ACT.
THAT ACT WAS DESIGNED TO MAKE
FEDERAL WEBSITES WORK TOGETHER
SIMILARLY TO IMPROVE THE MOBILE
EXPERIENCE FOR THE WEBSITES, AND
TO IMPROVE ACCESSIBILITY
THROUGHOUT THOSE WEBSITES.
AND AMONG THE WAYS IN WHICH IT
DOES THAT IS BY REQUIRING A
COMMON SET OF CODE KNOWN AS THE
USWDS, UNITED STATES WEB DESIGN
SYSTEM.
AGAIN ALL TO MAKE IT AN EASIER
CUSTOMER EXPERIENCE.
CURRENTLY WE'RE NOT IN
COMPLIANCE WITH THAT.
ARCHED JUSJUST TO CLARIFY FOR TT
ARE NOT FAMILY, THE 508 WAS
REQUIRING ALL FEDERAL ELECTRONIC
CONTENT TO BE ACCESSIBLE TO
THOSE WITH DISABILITIES.
THE OTHER POINT I WANT TO
HIGHLIGHT ON THIS SLIDE IS THAT
WE'RE OPTIMIZING THE
RESPONSIVENESS OF OUR WEBSITE.
IT IS CURRENTLY RESPONSIVE, BY
THAT, WE MEAN THAT YOUR
EXPERIENCE, THE WEBSITE DESIGN
WILL ADJUST TO WHATEVER SIZE
DEVICE YOU'RE USING, BUT WE GOT
THERE BY RETROFITTING OUR
CURRENT WEBSITE FOR THAT,
WHEREAS THE NEW WEBSITE WILL BE
BUILT WITH THAT IN MIND FROM THE
GROUND UP, SO IT WILL BE AN EVEN
BETTER EXPERIENCE FOR THOSE THAT
ARE VISITING OUR SITE NOT ON A
DESKTOP.
AND I WILL TALK A LITTLE BIT
MORE ABOUT THE SEARCH FUNCTION.
NEXT SLIDE, CINDY.
WE USE A STANDARD SEARCH TOOL
ACROSS THE GOVERNMENT, IT'S
CALLED SEARCH.USA, AND IT
ACTUALLY WORKS PRETTY WELL, IT'S
PRETTY ROBUST.
WHAT WE FOUND IS THAT OUR
WEBSITE ISN'T ENGINEERED VERY
WELL TO SUPPORT THAT SEARCH
FUNCTION.
SO SOME OF THE EXAMPLES I'M
TALKING ABOUT HERE ARE USING
BETTER SEARCH ENGINE
OPTIMIZATION, CHANGING -- MAKING
SURE THAT ALL OF OUR URLs, ALL
OF OUR WEBSITE ADDRESSES, ARE UP
TO DATE, SO FOR EXAMPLE, IT
TRICKS THE SEARCH FUNCTION IF
OUR DEPARTMENT OF LAB MEDICINE
RIGHT NOW USES CP, A AN ACRONYM
FOR A PREVIOUS NAME IN THE
DEPARTMENT, IN ITS WEB ADDRESS.
SO THAT MAKES IT HARDER WHEN
SOMEBODY SEARCHES FOR DLM ON OUR
SEARCH FUNCTION TO LOCATE THAT
DEPARTMENT.
SO A LITTLE BIT OF INSIDE
BASEBALL THERE, BUT BY UPDATING
THESE WEB ADDRESSES, IT WILL
IMPROVE THE SEARCH OUTCOMES.
THE OTHER THING I WANT TO POINT
OUT HERE IS IN REMOVING OUTDATED
PAGES AND CONSOLIDATING
DUPLICATE CONTENT.
CURRENTLY WE HAVE 2300 WEBPAGES
ON OUR PUBLIC WEBSITE.
WE HAVE MORE WEBPAGES THAN WE DO
CLINICAL CENTER FTEs.
GOVERNMENT FTEs.
WHEN WE'RE DONE WITH THIS
PROJECT IN JUST A COUPLE OF
MONTHS, WE'LL HAVE CUT 500 OF
THOSE PAGES.
AND WE'LL STAY MINDFUL AND KEEP
GOING AFTER THAT.
BUT THERE WILL BE A REDUCTION OF
21%.
THAT WILL GET RID OF A LOT OF
CLUTTER.
BUT AS I SAID, WE WANT TO MAKE
THE MOST OF THIS OPPORTUNITY.
IT'S NOT JUST A COMPLIANCE
EXERCISE.
WE WANT TO MAKE OUR WEBSITE MORE
COMPETITIVE WITH ACADEMIC
MEDICAL CENTERS THAT OTHER STAFF
MAY CONSIDER WORKING AT AND
PATIENTS MY CONSIDER
PARTICIPATING IN A TRIAL THERE.
WE GET THAT CUSTOMERS THAT COME
TO OUR WEBSITE, VISITORS,
THEY'RE NOT GOING TO GIVE US
HANDICAP POINTS BECAUSE WE'RE
GOVERNMENT OR WE HAVE LESS OF A
MARKETING BUDGET.
THEY'RE EXPECTING THE SAME HIGH
QUALITY EXPERIENCE THAT THEY
WOULD GET FROM A LARGE AMC.
THE OTHER POINT I WANT TO
EMPHASIZE IN THIS SLIDE IS THE
REDUCTION OF PDFs, WHICH ARE
NOT VERY SEARCH-FRIENDLY, AND
ARE NOT VERY
ACCESSIBILITY-FRIENDLY.
HOWEVER, AND THE POINT DAVID WAS
JUST RAISING WITH ME, WE'RE
STILL GOING TO EXPLORE MANY
OPTIONS IN WHICH PEOPLE WHO WANT
TO DOWNLOAD AND PRINT PAGES FROM
OUR WEBSITE ARE ABLE TO DO SO.
THERE ARE PRINT OPTIONS OUT
THERE THAT AREN'T NECESSARILY
PDF THAT WE CAN EQUIP OUR
WEBSITE WITH, AND WE'RE
EXPLORING THAT.
AND OF COURSE MORE CONSISTENCY.
OKAY.
SO LET'S GET INTO THE WEBSITE.
SO THAT'S WHAT THE WEBSITE
LOOKED LIKE WHEN I FIRST GOT
HERE.
10 YEARS AGO.
WE PUT A FRESH COAT OF PAINT ON
IT A FEW YEARS LATER.
WE DIDN'T REBUILD IT LIKE WE'RE
DOING NOW.
WE WORKED WITH THE EXISTING CODE
AND STRUCTURE, BUT WE GAVE IT A
DIFFERENT LOOK.
NOW I AM GOING TO GIVE YOU A
SNEAK PEEK AT OUR REDESIGNED
HOME PAGE.
I'LL GIVE YOU A MOMENT TO
PROCESS IT.
THERE'S A LOT THAT WE'RE EXCITED
ABOUT THIS.
NOW OUR HOME PAGE GETS ABOUT A
MILLION VISITS A YEAR.
WE'RE THE CROWN JEWEL WITHIN THE
GOVERNMENT.
WE'RE OFTEN CALLED THAT, THE
CLINICAL CENTER.
WE'RE A WORLD RENOWNED RESEARCH
HOSPITAL.
WE WANT TO MAKE SURE THAT WHEN
PEOPLE COME TO OUR FRONT PORCH,
EXPERIENCE US FOR THE FIRST
TIME, THAT WE HAVE A WEBSITE
THAT WE MAKE AN IMPRESSION THAT
CONVEYS THAT WE'RE A WORLD
RENOWNED ENTITY.
WE THINK THIS WILL HELP US GET
THERE A WHOLE LOT CLOSER.
THERE'S A FEW ELEMENTS I WANT TO
POINT OUT ABOUT THIS.
NOTICE AT THE VERY TOP LEFT, IT
SAYS OFFICIAL WEBSITE OF THE
UNITED STATES GOVERNMENT.
WE DON'T CURRENTLY HAVE THAT ON
OUR WEBSITE, BECAUSE YOU'RE ONLY
PERMIT TODAY HAVE THAT ON YOUR
WEBSITE IF YOU'RE IN COMPLIANCE
WITH THE IDEA ACT.
SO WHEN YOU VISIT A GOVERNMENT
WEBSITE, YOU SEE IT, IT MEANS
THEY'VE GOTTEN THERE.
IF YOU DON'T SEE IT, IT MEANS
THEY'RE STILL TRYING TO GET
THERE.
ANOTHER THING I'LL POINT OUT IS
PROMINENCE OF MAIRG AMERICA'S RH
HOSPITAL, NOT GETTING INTO
SPECIFIC TEXT TODAY BUT RATHER
THE CONCEPT, AND THIS IS
SOMETHING THAT'S BEEN IMPRESSED
UPON ME BY JACK LESLIE, ONE OF
THE BOARD MEMBERS, THE POINT,
WITH NIH CLINICAL CENTER PEOPLE
NOT INTUITIVELY KNOWING EXACTLY
WHAT WE DO, HAVING A TAGLINE
ATTACHED TO OUR BRAND IS
ESPECIALLY IMPORTANT TO EXPLAIN
THAT.
SO RIGHT NOW I'M WORKING WITH
THE OFFICE OF GENERAL COUNSEL TO
EXPLORE TRADEMARK OPTIONS FOR
VARIOUS PHRASES.
WE HAVE TO SEE WHAT'S ALREADY
BEEN CLAIM, WHAT HASN'T, AND
BASED ON THOSE OUTCOMES, WE'LL
BE ABLE TO EVEN USE IT MORE
PROMINENTLY OR ATTACH IT CLOSER
TO OUR LOGO.
THE EMERGENCY ALERT MESSAGE, WE
HAVE THAT CAPABILITY NOW, THIS
IS JUST A REDESIGN OF IT.
WE PUT UP INCLEMENT WEATHER
MESSAGES AND THINGS LIKE THAT
THERE WHEN THERE IS AN
EMERGENCYISN'T ANEMERGENCY, THA.
NOW I WANT TO POINT OUT THE
NAVIGATIONS HERE.
CURRENTLY, IF YOU GO TO OUR
CURRENT WEBSITE IS IT WOULD JUST
TAKE YOU TO A SINGLE PAGE.
IT'S NOT EVEN A DROPDOWN.
DROPDOWNS MIGHT BE KIND OF 20/20
WHERE YOU GO STRAIGHT DOWN.
BUT BEING 2024, WE'RE USING
WHAT'S CALLED MEGA MENUS, WHICH
MEANS RATHER THAN DROPPING DOWN,
THEY GO ACROSS THE SCREEN.
IT'S MORE NATURAL TO READ AND
PROCESS INFORMATION THAT WAY
THAN TO LOOK DOWN A LIST.
IT ALSO GIVES YOU A LITTLE MORE
REAL ESTATE TO PROVIDE OPTIONS,
SO THINGS ARE A HECK OF A LOT
EASIER TO FIND.
AGAIN, WE DON'T HAVE ANY OF
THOSE OPTIONS CURRENTLY
AVAILABLE.
WE JUST HAVE DIRECT LINKS TO
SPECIFIC PAGE IN OUR CURRENT TOP
MAP.
WE HAVE THIS BIG WHAT WE CALL A
HERO IMAGE IN THE FRONT.
RIGHT NOW WE HAVE A ROTATING
CAROUSEL.
WHAT WE FIND IS THAT PEOPLE
DON'T REALLY LINGER ON A WEBPAGE
TO WATCH THE CAROUSEL ROTATE.
RATHER, WHAT THEY NEED IS WHEN
THEY APPROACH THE WEBSITE, TO
EXPERIENCE AN IMAGE THAT PULLS
THEM INTO THE PAGE RIGHT AWAY
AND GRABS THEM.
AND LIKE I SAID, MAYBE THOSE
IMAGES WILL CHANGE OVER TIME,
BUT IT'S ACTUALLY A DEPARTURE
FROM OUR OLD WEBSITE TO NOT HAVE
THAT ROTATING INFORMATION.
JACK HAD ACTUALLY SUGGESTED THAT
WE KIND OF ANIMATE THAT IMAGE,
PUT IT IN MOTION, WHICH IS
INCREASINGLY POPULAR IN THE
COMMERCIAL SECTOR.
WE'RE STILL WORKING THROUGH,
THOUGH, WHETHER WE CAN DO SO IN
AN ACCESSIBLE WAY.
RIGHT NOW WE HAVEN'T BEEN ABLE
TO DO THAT IN A WAY THAT WILL
COMPLY WITH 508 REQUIREMENTS,
BUT WE'LL CONTINUE TO EXPLORE
THAT.
IF YOU SCROLL DOWN A LITTLE BIT,
AGAIN DON'T WORRY ABOUT THE
SPECIFIC TEXT BUT WE WANT TO
MAKE SURE THAT EACH OF OUR
WEBPAGES FRONT AND CENTER HAVE
SOME KIND OF CALL TO ACTION FOR
EACH DEPARTMENT.
STARTING WITH HOW TO JOIN A
STUDY.
BUT THEN IF YOU SCROLL DOWN A
LITTLE FURTHER, YOU'LL SEE
THERE'S ACCESS LINKS TO KEY
PATIENT RESOURCES, SUCH AS THE
PATIENT PORTAL, PATIENT SERVICES
PAGE.
RIGHT NOW ON OUR HOME PAGE, NONE
OF THAT'S AVAILABLE.
AND WHAT WE'LL DO IS, YOU'LL SEE
THAT THE TOP HALF OR WHAT WE
CALL ABOVE THE FOLD, IS ALL
PATIENT FOCUSED.
PUBLIC FOCUSED.
WE WANT TO MAKE SURE THAT WE
TAKE CARE OF THAT AUDIENCE FIRST
AND FOREMOST.
AND THEN JUST WANT TO GO DOWN TO
THE BOTTOM, YOU CAN SEE WHAT THE
SEARCHES AT THE BOTTOM LOOK LIKE
AS WELL.
BUT OKAY, SO YOU'VE MADE TO THE
BOTTOM OF THE PAGE.
THIS IS KIND OF A COOL FEE TEU
GET BACK TO THE MIC.
THE BACK TO TOP TABITHA YOU SEE
IN THE LOWER RIGHT CORNER, IF
YOU CLICK ON THAT, IT WILL JUMP
YOU TO THE TOP OF THE PAGE SO
YOU DON'T HAVE TO SCROLL ALL THE
WAY UP.
MANUALLY.
IT'S ALSO JUST TO IMPROVE YOUR
EXPERIENCE WITH THE WEBPAGE.
ANWE ALSO WANT TO SHOW YOU THAT
EVEN THOUGH THAT WASN'T
AVAILABLE ON THE DYNAMIC PAGE,
WE'RE ACTUALLY GOING TO EXTEND
THE LENGTH OF THE HOME PAGE,
WE'RE GOING TO ELONGATE IT.
THIS WAS ANOTHER SUGGESTION THAT
JACK GAVE US THAT'S MORE COMMON
IN THE COMMERCIAL SECTOR.
THAT WAY, PEOPLE DON'T
NECESSARILY HAVE TO START
GUESSING WITH THEIR CLICKS, BUT
RATHER CAN SCROLL DOWN AND
EYEBALL TO LOOK FOR WHAT THEY
WANT WITHOUT HAVING TO CLICK
THROUGH OR DIG INTO YOUR WEBSITE
RIGHT AWAY.
SO WHILE ABOVE THE FOLD WILL BE
PATIENT FOCUSED, WE WANT TO PUT
A WHOLE LOT MORE INFORMATION
AVAILABLE FOR STAFF AND
RESEARCHERS BELOW THE FOLD AS
WELL.
AND INCLUDE LINKS ON THE HOME
PAGE THERE THAT WE DIDN'T HAVE
BEFORE SUCH AS TO OUR SPANISH
LANGUAGE CONTENT.
OKAY, I'M JUST GOING TO RUN
THROUGH A FEW EXAMPLES OF HOW IT
MIGHT LOOK INTERIOR.
THIS IS OUR CURRENT "ABOUT US"
PAGES.
THE CLINICAL CENTER HAS GROWN AN
AWFUL LOT OVER THE YEARS.
ONE BUILDING TO THREE ATTACHED
BUILDINGS.
OUR MISSION HAS GROWN QUITE A
BIT.
AND WE JUST KEPT ADDING PAGES TO
THE "ABOUT US" PAGE.
WE'VE STREAMLINED THAT WITH OUR
NEW WEBSITE.
IT WILL LOOK SOMETHING LIKE
THIS, JUST ONE PAGE.
WHERE IT'S ALL AVAILABLE TO YOU.
YOU CAN SEE IN TOTALITY.
NEXT SLIDE, PLEAS.
ANOTHER EXAMPLE IS OUR BLOOD
BANK PAGE, VERY IMPORTANT
FUNCTION WITHIN THE CLINICAL
CENTER.
IF YOU COME TO THAT PAGE, YOU'RE
PRESENTED WITH AN ESSAY.
UNDER OUR NEW REDESIGN APPROACH,
WE WORKED VERY CLOSELY WITH THE
BLOOD BANK FOLKS, SEE IT WILL BE
FAR MORE STREAMLINED, THIS WILL
BE VERY DYNAMIC.
YOU'LL NOTICE AT THE TOP THERE,
WE'RE ACTUALLY ABLE TO HIGHLIGHT
WHAT BLOOD TYPES WERE WE'RE IN
PARTICULAR NEED FOR AT ANY GIVEN
TIME, AND THAT WILL BE UPDATED
BY THE BLOOD BANK EACH WEEK.
I WANT TO EMPHASIZE THAT
THROUGHOUT THIS ENTIRE PROCESS,
WE CONSULTED WITH THE INDIVIDUAL
DEPARTMENTS, PATIENT ADVISORY
GROUP, VARIOUS STAKEHOLDERS TO
ENSURE INPUT.
WE'RE NOT JUST RELYING ON OUR
OWN PROFESSIONAL JUDGMENT OR
MARKET RESEARCH ON OTHER
ACADEMIC MEDICAL CENTERS'
WEBSITES.
ANOTHER EXAMPLE WHERE WE HAVE
MULTIPLE CALENDAR PAGES ACROSS
OUR WEBSITE.
THEY'RE ALL PRETTY HANDY.
ONE THING THAT'S BEEN A LITTLE
BIT HEARTENING THROUGH THIS
PROCESS IS WE'VE SPOKEN TO
STAKEHOLDERS, THEY FOUND OUR
WEBSITE SERVICEABLE.
IT WASN'T THAT IT WAS A
DISASTER.
WE'RE MAKING A GOOD THING BETTER
THROUGH THIS PROCESS.
BUT ONE OF THE WAYS IN WHICH
WE'RE DOING THAT, MAKE THINGS
EASIER FOR PEOPLE TO FIND,
INCLUDING OUR STAFF, YOU WOULD
HAVE TO KNOW THAT GRAND ROUNDS,
FOR EXAMPLE, JUST GO BACK ONE,
CINDY, THE GRAND ROUNDS OPERATES
UNDER OUR TRAINING PROGRAM,
OCRTME, WHEREAS MUSIC IN THE
ATRIUM, THAT CALENDAR IS UNDER
COMMUNICATIONS, MY SHOP THAT
OVERSEES IT, SO THERE ISN'T ONE
CONSOLIDATED PLACE FOR ALL OF
THIS INFORMATION THAT SOMEBODY
WOULD KNOW TO GO TO GENERALLY.
SO WE'LL REPLACE THAT MENAGERIE
OF CAL DEARS CALENDARS WITH A E
WHERE ALL OF THE INFORMATION IS
PRESENTED THERE.
IT WON'T BE BROKEN OUT BY
SEPARATE DEPARTMENTS.
OUR SENIOR STAFF PAGES, LAUNDRY
LIST.
RIGHT NOW.
BUT WITH THE NEW WEBSITE, WE'RE
GOING TO ADD A WHOLE BUNCH OF
SEARCH FUNCTIONALITIES TO IT SO
YOU CAN LOOK UP NAMES.
SO YOU SEE A COUPLE OF DIFFERENT
WAYS, WE'LL HAVE ACTUAL PICTURES
OF THE PEOPLE, THE 6T 66 FL 6 FR
LEADERS, BUT THERE WON'T BE
MULTIPLE SENIOR LEADERSHIP PAGES
SCATTERED ACROSS THE CLINICAL
CENTER WEBSITE.
AND JUST A QUICK -- OH, BY THE
WAY BEFORE I TURN OVER TO MY
GOOD FRIEND DR. GAHL, YOU'RE IN
FOR A TREAT HEARING FROM HIM SO
I DEFINITELY WANT TO MAKE SURE I
FINISH ON TIME.
THE NEW WEBSITE WILL OFFER THIS
AUTO SURVEY OPTION.
YOU MIGHT HAVE EXPERIENCED THAT
ON WEBSITES YOU VISITED WHERE IF
YOU LINGER ON A PAGE FOR A
WHILE, IT ASKS IF YOU WANT TO
PROVIDE A COMMENT OR FEEDBACK ON
THE WEBPAGE.
AND THAT FEEDBACK WOULD THEN
COME TO US.
SO AFTER A FEW SECONDS, THAT
WILL POP UP AND PEOPLE WILL HAVE
THAT OPTION TO DO THAT.
OUR NEW WEBSITE WILL HAVE AI
CAPABILITY.
IT'S PARTICULARLY EXCITING TO
ME, AS SOMEBODY WHO ALSO
RECEIVES PATIENT RECRUITMENT,
BUT WE'RE NOT LAUNCHING WITH AI
FUNCTIONALITY, WE JUST HAVE THAT
CAPABILITY BECAUSE WE REALLY
WANT TO DO OUR HOMEWORK BEFORE
WE GO THERE.
AND PARTICULARLY, FOR EXAMPLE,
ON THE PATIENT RECRUITMENT SIDE,
THERE'S A LOT OF PRIVACY AND
SECURITY ISSUES THAT WE NEED TO
WORK THROUGH BEFORE WE LAUNCH
THAT.
BUT WE KNOW IT'S INEVITABLE THAT
THERE WILL BE SOME REALLY RICH
OPPORTUNITIES TO USE THAT
TECHNOLOGY.
I MENTIONED THE FLOATING
NAVIGATION.
AND SO THAT WRAPS UP MY
RUNTHROUGH OF OUR NEW WEBSITE IN
PROGRESS, AND IF ANYBODY HAS
QUESTIONS OR COMMENTS, WE'D BE
HAPPY TO HEAR IT OR WE CAN TAKE
IT BACK AND FOLLOW UP WITH YOU.
FIRE AWAY, DAVID.
>> FIRST OF ALL, LET ME TELL YOU
THAT IT'S EXTRAORDINARILY HAPPY
TO SEE THE TYPE OF INNOVATION
THAT'S GOING INTO THIS, AND THAT
THE REASON IS TO MAKE IT EASIER
AND TO MAKE INFORMATION MORE
ACCESSIBLE AND TO ELIMINATE THE
SCAVENGER HUNT THAT YOU HAVE TO
GO THROUGH ON THE CURRENT
WEBSITE.
A QUESTION ABOUT THE SEARCH.
>> YES, SIR.
>> DIFFERENT AGENCIES I'VE
NOTICED, THEIR SEARCH BAR IS
LIMITED TO JUST SEARCHING ON
THEIR WEBSITE IN TERMS OF THE
RETURNS, AND IN OTHER CASES, IT
DOES A COMPLETE WORLDWIDE WEB
GOOGLE SEARCH.
SO ARE WE GOING TO LIMIT OUR
SEARCH JUST TO THE CL CLINICAL
CENTER, JUST TO THE NIH, ARE WE
GOING TO HAVE MULTIPLE SEARCH
OPTIONS?
>> PRESENTLY, OUR SEARCH WOULD
JUST BE LIMITED TO THE CLINICAL
CENTER WEBSITE.
AS YOU POINTED OUT, FINDING WHAT
YOU WANT AMONG OUR PAGES ALONE
IS HARD ENOUGH, LET ALONE IF WE
WERE TO OPEN IT UP TO THE ENTIRE
WEB UNIVERSE.
BUT WE ARE RESEARCHING OTHER
SEARCH FUNCTIONS, WE'RE TRYING
TO KEEP UP WITH THAT BECAUSE WE
KNOW IT'S INCREDIBLY IMPORTANT.
WE KNOW MOST PEOPLE DON'T
BOOKMARK THE INTERIOR PAGES OF
THE CLINICAL CENTER.
THEY'LL FIND IT BY SEARCH.
AND ACTUALLY AN AREA THAT'S NOT
PART OF THIS PROJECT BUT THAT'S
COMING NEXT WOULD BE OUR
INTRANET, WHERE OUR STAFF GO TO
FIND A LOT OF OUR RESOURCES, AND
WE'RE GOING TO SEEK OUT A VERY
ELEGANT SEARCH OPTION FOR THAT
BECAUSE THEY USE TO FIND
POLICIES AND VERY GRANULAR
INFORMATION, AND I'D LOVE TO BE
ABLE TO CONSULT WITH YOU ALONG
THE WAY.
>> THAT WAS MY NEXT QUESTION, I
NOTICE THE INTRANET, THE "GO-TO"
INTRANET LINK IS GONE.
WE'RE GOING TO LEAVE THAT OFF
FOR THE TIME BEING?
>> NO, WE'LL HAVE THE INTRANET
PAGE LINK UP THERE.
IT SHOULD BE ON THE HOME PAGE.
>> IT LOOKS REALLY GREAT.
I CANNOT EMPHASIZE THAT ENOUGH.
>> THANK YOU.
WELL, IT'S BEEN A REAL TEAM
EFFORT, AND LIKE I SAID, THERE'S
BEEN MANY STAKEHOLDERS
THROUGHOUT THE CLINICAL CENTER,
INCLUDING FROM THE PATIENT
ADVISORY GROUP THAT HAS HELPED
US GET THERE.
BUT DONOVAN AND CINDY HAVE
REALLY LED THE WAY.
THANK YOU FOR SAYING THAT, SIR.
>> ANTOINETTE?
>> THE WEBSITE LOOKS GREAT.
IT'S LESS BUSY AND CROWDED AND
JUNKED UP.
AND IT IS INVITING TO LOOK AT.
I REALLY APPRECIATE YOU ALL
SELECTING A PICTURE, THAT IMAGE,
AND IN THE FUTURE DO THAT AS
WELL, THAT HAS PEOPLE FROM THE
BIPOC COMMUNITY, BLACK,
INDIGENOUS PEOPLE OF COLOR,
BECAUSE EVEN THOUGH WE CALL THIS
AMERICA'S RESEARCH HOSPITAL,
LIKE I SAID, IT'S HARD TO GET
BLACK, AFRICAN AMERICAN BLACK
AND SOME OTHER PEOPLE OF COLOR
INTERESTED IN RESEARCH BECAUSE
THEY DON'T FEEL IT A PLACE OR
SPACE FOR THEM, OR IT'S JUST A
FEAR, A BIG FEAR, BASED ON
THINGS THAT HAVE HAPPENED IN THE
PAST.
SO I'M GLAD YOU SELECTED THAT
PHOTO.
IN THE FUTURE, LIKE I SAID,
PLEASE -- IF YOU'RE GOING TO
ROTATE THAT OUT, BECAUSE WHEN
YOU FIRST GO THERE, LIKE I SAID,
I'VE BEEN TRYING TO GET PEOPLE
TO TAKE ADVANTAGE OF THE
CLINICAL RESEARCH PROGRAMS HERE
AT NIH, AND IT'S FEAR, IT'S A
BIG FEAR OF THAT, THAT THEY JUST
DON'T KNOW.
AND BELIEVE IT OR NOT, SOME
DOCTORS THAT I'VE HAD DID NOT
KNOW THE GRAVITY OR WHAT NIH
ACTUALLY IS ENGAGED IN, BELIEVE
IT OR NOT.
THEY'RE STILL UNDER THE
IMPRESSION THAT RESEARCH-WISE,
WE JUST DEAL WITH RATS AND
MONKEYS AND Y'ALL HAVE A
HOSPITAL HERE?
COME ON, THEY'RE NOT THERE YET.
SO I'M GLAD THAT YOU HAVE
SOMETHING THAT'S SIMPLE THAT
PEOPLE CAN LOOK AT AND SEE THAT
IT'S MORE THAN JUST RATS AND
MONKEYS AND RABBITS YOU'RE
DEALING WITH HERE.
YOU'RE DEALING WITH HUMAN
BEINGS.
THANKS.
>> THANK YOU.
>> GREAT.
WELL, THANK YOU AND
CONGRATULATIONS TO YOU AND YOUR
TEAM.
I MEAN, REALLY TO ME, THE WORD
THAT KEPT COMING TO MY MIND WAS
"UNCLUTTERED."
IT WAS JUST ACCESSIBLE BECAUSE
EVERYTHING IS VISIBLE ON THE
SITE.
SO THANK YOU.
>> THANK YOU FOR SAYING THAT.
>> GREAT.
AND NOW WE'RE GOING TO HEAR A
PRESENTATION, REALLY AN UPDATE
ON THE UNDIAGNOSED DISEASES
PROGRAM FROM DR. WILLIAM GAHL.
>> THANKS FOR THE OPPORTUNITY TO
SPEAK ABOUT THE UNDIAGNOSED
DISEASES PROGRAM.
AND SO I WANT TO MENTION, TOO,
THAT WE HAVE DIFFERENT PEOPLE
CONTRIBUTING TO THIS.
THE DIRECTOR OF THE PEDIATRIC
PORTION IS DR. TIFFT, DR. ADAMS,
DR. TORO AND DR. ACOSTA, A
COUPLE OF GREAT INTERNISTS,
DR. NOVACIC AND DR. ROSSIGNOL.
THERE ARE A LOT OF PEOPLE TO
THANK FOR THIS EXPANSION TO AN
EXTRAMURAL PROGRAM.
WHY DO WE HAVE AN UNDIAGNOSED
DISEASES PROGRAM?
WELL, THERE ARE ESTIMATED TO BE
25 MILLION PEOPLE IN THE UNITED
STATES WITH A RARE DISEASE.
THOSE PEOPLE TOOK A LONG TIME TO
GET THEIR DIAGNOSIS.
WE'D LIKE TO HASTEN THAT.
IN ADDITION, AROUND THE TIME OF
2007 OR SO, WHEN THIS STARTED,
IT ACTUALLY OFFICIALLY STARTED
IN 2008, BUT AT THAT TIME, 6% OF
ALL THE CALLS THAT CAME TO THE
OFFICE OF RARE DISEASES, WHICH
WAS IN THE OFFICE OF THE NIH
DIRECTOR AT THE TIME, WERE FROM
PEOPLE WHO DIDN'T HAVE A KNOWN
DIAGNOSIS OF A RARE DISEASE.
THEY WERE UNDIAGNOSED
ESSENTIALLY.
SO WE WANT TO HELP THOSE PEOPLE
COME TO A DIAGNOSIS, AND ALSO
BECAUSE WE'RE A RESEARCH
INSTITUTE AND WE'RE SCIENTISTS,
WE WANT TO DISCOVER NEW
DISEASES, NEW BIOCHEMISTRY, CELL
BIOLOGY, PHYSIOLOGY, ET CETERA.
SO THE WAY THIS PROGRAM WORKS IS
THAT APPLICANTS WILL SUBMIT
THEIR MEDICAL RECORDS AND ANYONE
CAN APPLY AND THERE'S A
REGISTRATION ONLINE SITE, AND
THE REFERRING PHYSICIAN SENDS A
SUMMARY LETTER AND THEN I FOR
THE ADULTS AND DR. TIFFT FOR THE
CHILDREN WILL LOOK AT THESE
RECORDS AND TRIAGE THEM TO OTHER
INTRAMURAL INVESTIGATORS WHO ARE
SPECIALISTS IN THE FIELD.
AND WE ACCEPT ABOUT ONE-THIRD OF
THE APPLICANTS, AND WE TURN DOWN
THE OTHERS WHO OFTEN GIVE ADVICE
TO THE OTHERS, BUT WHEN WE
ACCEPT A PATIENT, WE LARGELY
BRING THEM IN TO THE CLINICAL
CENTER AT NO COST TO THEM FOR
ONE WEEK, AND DURING THAT WEEK,
WE CAN GENERALLY GET DONE WHAT
TAKES MAYBE A YEAR OR TWO YEARS
ON THE OUTSIDE BECAUSE THERE'S
NO INSURANCE COSTS.
WE DON'T HAVE TO GET PERMISSION
TO DO THE NEXT OUTPATIENT MRI,
ET CETERA, ET CETERA.
SO IT'S REALLY AN INCREDIBLE
ADVANTAGE.
OVER THE YEARS, WE'VE HAD OVER
6,000 APPLICATIONS ACCEPTED AND
SEEN HERE OVER 1600 INDIVIDUALS.
A LOT OF CHILDREN.
A HUGE AMOUNT OF NEUROLOGY.
AND WE DO EXCELLENCE IN GENOMES,
LARGELY GENETICISTS, BUT PEOPLE
DON'T HAVE TO HAVE A GENETIC
DISEASE TO SEE US IN THIS
PROGRAM.
WE'VE MADE OVER 400 DIAGNOSES
AND HAVE A LOT OF PUBLICATIONS
AND MTAs, MATERIAL TRANSFER
AGREEMENTS WHICH MEANS WE'VE
SENT SPECIMENS FROM THESE
INDIVIDUALS WHO ARE SO WELL
PHENOTYPED WE'VE SENT SPECIMENS
IN A DE-IDENTIFIED FASHION
THROUGH OUR COLLABORATORS, WE
HAVE SOME PAPERS EVEN IN SOME
GOOD JOURNALS.
I USUALLY GIVE A LOT OF TALKS
ABOUT NUMBERS, ET CETERA, AND
THAT'S A BURDEN, BUT IT'S NOT A
BURDEN TO TALK ABOUT THE
PARTICULAR CASES BECAUSE THEY'RE
SO INTERESTING AND FASCINATING,
AT LEAST TO ME.
SO WE SAW FIVE ADULTS WHO ARE
FROM THE KENTUCKY, OHIO REGION,
AND THEIR SIBLINGS, MAYBE IN
THEIR 50s OR SO, AND THEY HAD
CLAUDICATION IN THEIR LOWER
EXTREMITIES WITH ISCHEMIC PAIN
IN THEIR FEET AND JOINT PAIN AS
WELL IN THEIR HANDS.
AND I'LL SHOW YOU THE PICTURE OF
THEIR FAMILIAR RA FEMORAL AND PL
ARTERIES.
THIS IS NOT CONTRAST.
THIS IS JUST THEIR DILATED
ARTERIES, AND IT EXPLAINS WHY
THEY HAVE CLAUDICATION.
HERE'S A PA VIEW.
HERE'S THE DORSALS PEDIS.
AND THEY ALSO HAD THIS
CALCIFICATION -- WHERE -- RIGHT
ABOUT HERE IN THEIR JOINTS,
THEIR META CARPAL PHALANGEAL
JOINT.
WELL, WE DID A SNP ARRAY
ANALYSIS BECAUSE WE KNEW THE
PARENTS WERE THIRD COUSINS.
YOU KNOW THAT FIRST COUSINS
SHARE ONE EIGHTH OF THEIR GENES
AND SECOND COUSINS SHARE 1/32 OF
THEIR GENES AND THIRD COUSINS
SHARE 1/128 OF THEIR GENES.
IF YOU FIND A REGION OF
HOMOZYGOSITY, IT'S AXIOMATIC, IF
YOU HAVE ONE VARIANT OR
POTENTIAL MUTATION IN ONE OF THE
COPIES OF THE GENE, NAMELY ONE
ALLELE, YOU WILL HAVE IT IN BOTH
ALLELES BECAUSE THEY'RE
HOMOZYGOUS IN THAT REGION, SORT
OF BY DEFINITION.
THE 3.2 BILLION BASES AND
COMPANIES WHO WHO HAVE PICKED
OUT THOSE BASES ARE WHAT THEY
CALL POLYMORPHIC.
THEY'RE POLYMORPHIC IN A RATIO
OF 60/40, 70/30 OR SOMETHING OF
THAT SORT SO THAT PEOPLE WILL
HAVE COMMONLY EITHER AN A OR A C
OR A T OR A G OR ONE OR THE
OTHER IN THAT PARTICULAR
LOCATION.
AND THEY CONSIDER THESE AS HAV
HAVING AA IF THEY'RE HOMOZYGOUS
FOR THE MORE COMMON ALLELE, BB
IF THEY'RE HOMOZYGOUS FOR THE
LESS COMMON ALLELE, AND AB IF
THEY'RE HETEROZYGOUS.
THIS IS A PICTURE OF CHROMOSOME
6 IN WHICH EACH DOT IS ONE OF
THOSE SNPs, SINGLE NUCLEOTIDE
POLYMORPHISM.
EACH DOT ON AVERAGE IS ABOUT
3,000 BASES APART.
SO THIS COVERS A LOT OF GROUND
RIGHT HERE.
AND EVERY ONES OF THESE DOTS IS
THE AB.
IN OTHER WORDS, THE HETEROZY
HETEROZYGOUS.
AND THIS, THE TOP IS FOR THE
MOTHER, THE NEXT ONE IS FOR THE
FATHER, AND THESE ARE FOR THE
CHILDREN.
THAT WILL ALL AFFECTED.
AND THIS ONE REGION HAS NO
HETEROZYGOSITY.
IT MEANS THEY'RE ALL HOMOZYGOUS.
THIS IS A REGION THAT WE SHOULD
LOOK FOR A VARIANT BECAUSE WE
KNOW IT'S GOING TO BE HOMOZYGOUS
IN THAT REGION.
WELL, THERE WAS A VARIANT IN
THIS 22 MEGA BASE REGION, THERE
WERE 92 GENES, AND OUR HEART,
LUNG AND BLOOD SOACIALG SOARVEGD
AT THE GENE AND SAID NT5E MIGHT
BE SOMETHING FOR YOU TO LOOK AT,
IT ENCODES CD73, DEGRADES AMP TO
ADENOSINE AND INORGANIC
PHOSPHATE.
SO WE LOOKED THERE FOR VARIANTS,
AND IT TURNS OUT THAT OUR FAMILY
HAD -- I GUESS I CAN DO IT ON
HERE TOO.
YEAH THAT, WORKS.
OUR FAMILY, WHICH YOU SEE HAD
HOMOZYGOUS ARE -- THE THIRD
FAMILY WAS COMPOUND
HETEROZYGOUS.
SO WHAT IS IT, NINE INDIVIDUALS
IN THREE FAMILIES ALL WITH
BIALLELIC LOSS OF FUNCTION
MUTATIONS IN THIS PARTICULAR
GENE INDICATING THAT THIS IS
LIKELY TO BE THE CAUSE OF THE
DISORDER.
WE ALSO, BECAUSE WE COLLECT SKIN
FIBROBLASTS AND GROW THEIR CELLS
ON ABOUT 70% OF OUR PATIENTS, WE
ALSO HAD THE SKIN CELLS OR
FIBROBLASTS IN CULTURE AND THEY
EXPRESSED THE GENE.
YOU CAN SEE HERE THE EXPRESSION
OF THE NT5E WAS VERY LOW IN THE
TWO AFFECTED INDIVIDUALS
COMPARED TO THE CONTROLS.
THE ENZYME ACTIVITY WAS VERY
LOW, WE MEASURED THAT AS WELL IN
THE LAB OF DR. MANFRED BAUM, DRD
THIS BY TRANSDUCTION WITH A
VECTOR THAT CONTAINS CD73 AND
GOT BACK THE ENZYMATIC ACTIVITY.
IN ADDITION, THESE FIBROBLASTS
EXPRESSED A PHENOTYPE.
AND THE PHENOTYPE WAS INCREASED
ALKALINE PHOSPHATASE ACTIVITY.
SO HERE'S A STAIN FOR ALKALINE
PHOSPHATASE IN THE INAFFECTED
CELLS COMPARED TO CONTROL.
THE AMOUNT OF THAT ALKALINE
PHOSPHATASE WAS REDUCED OR
MITIGATED BY GIVING ADENOSINE.
ADENOSINE THE PRODUCT OF THE
ENZYME THEAZ MISSING.
ENZYME THAT'S MISSING.
NOT ONLY WAS THERE A PHENOTYPE
OF INCREASED PHOSPHATASE
ACTIVITY, THERE'S ALSO A
PHENOTYPE IN THESE CELLS OF
INCREASED CALCIFICATION.
AND THIS I IS A RED STAIN THAT
SHOWS THE CALCIFICATION OF THE
PATIENT'S CELLS COMPARED TO THE
CONTROL WHEN YOU TRANSDUCE WITH
A CONTROL LENTIVIRUS THAT HAS
NOTHING IN IT, YOU STILL HAVE
THE RED, SO CALCIFICATION.
IF YOU TRANSDUCE WITH THE
LENTIVIRUS THAT HAS CD73 IN IT,
YOU RESCUE IT, YOU ALSO RESCUE
IT WITH ADENOSINE, AND WITH
LEVAMISOLE, AN ALFIN PHOSPHATASE
INHIBITOR.
SO IS THIS THE EXPLANATION FOR
WHY THESE INDIVIDUALS HAVE LOWER
EXTREMITY A ARTERIAL
CALCIFICATION.
AND THE EXPLANATION IS THAT
THERE ARE -- THERE'S A PURINE
ENZYMATIC PATHWAY ON THE SURFACE
OF THE VASCULAR ENDOTHELIAL
CELLS THAT INCLUDES
CD73 CONVERTING AMP TO ADENOSINE
AND INORGANIC PHOSPHATE.
NORMALLY THE ADENOSINE REACTS
WITH ADENOSINE RECEPTORS AT THE
CELL SURFACE, WHICH CAUSE
INTRACELLULAR SIGNALING THAT
TROPHICALLY INHIBITS TISSUE
NONSPECIFIC ALKALINE
PHOSPHATASE.
WHEN THAT DOESN'T OCCUR BECAUSE
YOU'RE NOT PRODUCING THE
ADENOSINE, BECAUSE THIS IS
MISSING, THEN YOU HAVE INCREASED
ALFIN PHOSPHATASE THAT GOES TO
THE OUTSIDE OF THE CELL AND IT
CONVERTS PYRO PHOSPHATE TO
INORGANIC PHOSPHATE.
PYRO PHOSPHATE INHIBITS
CALCIFICATION, INORGANIC
PHOSPHATE STIMULATES IT.
INCIDENTALLY, THERE'S ANOTHER
DISEASE THAT WE'RE SORT OF
STUDYING TOO, ENPP1 DEFICIENCY,
THIS CAUSES GENERALIZED ARTERIAL
CALCIFICATION OF INFANCY, FATAL
IN THE FIRST SIX MONTHS OF LIFE
GENERALLY.
SO WE CALL THIS DISEASE ARTERIAL
CALCIFICATION DUE TO CD73, WHICH
WE CALL AC/DC, WHICH
INCIDENTALLY THE NEW ENGLAND
JOURNAL DID NOT WANT, BUT WHEN
YOU SUBMIT SOMETHING LIKE THAT
AND THEY OBJECT, FINE, EVERY
SUBSEQUENT PUBLICATION IS AC/DC,
THAT'S JUST THE NEW ENGLAND
JOURNAL THAT DOESN'T ALLOW IT.
OKAY.
SO THAT'S A NEW DISEASE.
THIS DIDN'T LINE UP SO GREAT BUT
IT DOESN'T MATTER, YOU CAN SEE
IT.
WE HAVE SINCE MADE ABOUT 30 NEW
DISEASE DISCOVERIES, THAT IS TO
SAY A PHENOTYPE THAT'S UNIQUE,
AND THEN A GENE WHOSE VARIANTS
ARE CONSIDERED CAUSAL BECAUSE WE
FOUND THAT ASSOCIATION IN MORE
THAN ONE FAMILY.
OF COURSE THESE THINGS ARE ALL
PUBLISHED.
YOU HAVE IT TO HAVE TWO FAMILIES
IN ORDER TO HAVE IT PUBLISHED,
BUT YOU CAN SEE THIS IS A BUNCH
OF THEM, THIS IS A BUNCH OF
OTHER ONES.
AND JUST IN THE LAST TWO YEARS,
WE'VE MADE THESE DISCOVERIES AND
PUT IT IN THESE JOURNALS.
A COUPLE OF THEM ARE STILL SORT
OF PENDING, ET CETERA.
WE'VE ALSO MADE A LOT OF
DIAGNOSES AS I MENTIONED.
AND I HAVE A BUNCH OF SLIDES
HERE THAT I'M GOING TO GO THREUM
VERY RAPIDLY.
VERY RARE DIAGNOSES.
SO MAYBE YOU'VE NEVER HEARD OF
SOME OF THESE THINGS.
HERE'S ONE, ONLY THE SECOND AND
THIRD CASES IN THE WORLD.
FIRST CASE IN THE UNITED STATES.
ET CETERA.
, ET CETERA.
SOME RECENT DIAGNOSES.
SOME OF THESE, YOU'LL RECOGNIZE,
BUT I GENERALLY SAY BECAUSE I
GIVE THIS TALK TO GENETICISTS
AND MEDICAL STUDENTS, IT'S
ALWAYS A DIFFERENT TALK A LITTLE
BIT, BUT I SAY IF YOU KNOW MOST
OF THESE DISEASES, YOU NEED TO
GET A LIFE.
THESE ARE REALLY RARE, UNUSUAL
THINGS.
OKAY, FINE.
THEN I'M GOING TO GIVE YOU A
COUPLE EXAMPLES OF WHERE WE
ACTUALLY HELP PEOPLE.
SO I WOULD SAY THAT WE PRETTY
MUCH ALWAYS HELP PEOPLE BECAUSE
WHEN MAKING A DIAGNOSIS, THEY
NOW HAVE -- THEY DON'T HAVE TO
SEARCH ANYMORE FOR ONE THING.
SOMETIMES THEY HAVE A THERAPY,
SOMETIMES THEY HAVE A PROGNOSIS
THAT'S ASSOCIATED WITH IT.
AND THEY'RE GIVEN A LOT MORE
CREDIBILITY WHEN THEY CAN PUT A
NAME ON THE PARTICULAR DISORDER
THAT THEY HAVE.
SO THERE'S BENEFIT FOR EVERYONE,
BUT HERE ARE A COUPLE OF
EXAMPLES WHERE THERE'S SOME
INCREASED BENEFIT.
14-YEAR-OLD YOUNG LADY FROM NIGH
JEERL YA WHO HAD GENU VALGUM,
POOR WALKING, GROWTH DELAY,
FRACTURES, ESSENTIALLY.
AND THEY MADE A DIAGNOSIS OF
RICKETS AND TREATED HER WITH
SURGERY AND WITH VITAMIN D.
HERE ARE SOME OF HER FRACTURES.
WE DIDN'T SEE THIS PATIENT
ACTUALLY BUT WE SAW ALL THE
STUFF WHEN WE CONSENTED THE
PERSON AND I GOT THE DNA, ET
CETERA.
YOU'LL SEE.
HERE SHE IS, SHE SPENT A LARGE
PORTION OF HER LIFE IN CASTS.
SO THERE'S A DIFFERENTIAL
DIAGNOSIS, VITAMIN D DEFICIENCY.
NOT GOING TO LIKELY BE THAT
BECAUSE SHE WAS ALREADY TREATED
WITH VITAMIN D.
HYPOFOSHYPOPHOSPHATEMIA, METABOC
ACIDOSIS.
SHE HAD LOW SERUM BICARB AND LOW
POTASSIUM.
SO WE DID A GEE NOASM AND FOUND
A PATHOGENIC VARIANT IN SLC4A1.
ANY GENE THAT'S GOT AN SLC IN IT
MEANS IT'S A TRANSPORTER, EITHER
AT THE PLASMA MEMBRANE, SO THIS
IS A TRANSPORTER AND IT'S A
KNOWN CAUSE OF METABOLIC
ACIDOSIS.
NAMELY, RENAL TUBULAR ACIDOSIS.
WHICH IS A KNOWN CAUSE OF
RICKETS.
SO THE TREATMENT IS ALKALI WITH
BICARBONATE OR CITRATE PLUS
POTASSIUM BECAUSE THIS IS THE
CHLORIDE BICARBONATE EXCHANGER
IN THE DISTAL TUBULE.
SO SHE'S BEING TREATED NOW IN
NIGERIA.
SECOND CASE I'LL SHOW YOU IS A
27-YEAR-OLD WOMAN WHO HAD
DYSTONIA.
SHE HELD HER PEN IN GRADE SCHOOL
LIKE THIS.
AND YOU KNOW HOW TEACHERS GET
MAD AT YOU WHEN YOU DO THAT?
AND THEY SAY HOLD YOUR PEN
PROPERLY, ET CETERA, ET CETERA.
SHE COULDN'T HELP IT.
SHE HAD DYSTONIA.
AND LATER SHE HAD GAIT
ABNORMALITIES, AND ALSO,
INVOLUNTARY TONGUE MOVEMENT
WHICH SHE COULD NOT CONTROL.
AND THAT AFFECTED HER SPEECH AND
HER SWALLOWING, AND HER
NUTRITION.
AND WHEN SHE CAME TO US, SHE WAS
ABOUT 82 POUNDS OR SOMETHING OF
THAT SORT.
SHE JUST COULDN'T EAT.
WE FOUND SHE HAD A HETEROZYGOUS
KM T2 B VARIANT AND THIS ENCODES
A METHYL TRANS PHRASE, SO IT'S
GOING TO HAVE SOME EPIGENETIC
EFFECTS AND SOME METHYLATION
EFFECTS ON EXPRESSION, ET
CETERA.
BUT NOT ASSOCIATED WITH A KNOWN
DISEASE.
THIS IS A WHILE AGO, I DON'T
KNOW, MAYBE EIGHT YEARS AGO OR
SO, BUT WE WERE PUTTING THE
VARIANTS OR I WOULD SAY THE
GENES THAT WE HAD VARIANTS IN
THAT WE KNEW WERE ASSOCIATED,
LIKELY ASSOCIATED WITH A NEW
DISEASE, WE WERE PUTTING THAT ON
OUR WEBSITE.
WHEN WE DID THAT, I ONE DAY GOT
A CALL FROM DR. MANJU KURIAN WHO
RUNS A DYSTONIA CLINIC IN
LONDON, AND SHE SAID I NOTICED
KM T2 B ON YOUR WEBSITE.
AND I HAVE THREE PATIENTS WHO
HAVE KMT2B VARIANTS.
THEY ALL HAVE DYSTONIA, JUST
LIKE YOUR PATIENT, AND THEY
RESPONDED TO DEEP BRAIN
STIMULATION.
AND THEN WE WERE COLLABORATORS
WITH HER IN SOME RESPECTS.
LATER, WE SAW ANOTHER PATIENT
WITH DYSTONIA, DR. ARIANA
SOLDATOS SAW THIS PATIENT, AND
AGAIN TOE WALKING, SO GAIT
ISSUES, MOTOR SPEECH PROBLEMS,
TREATED WITH BACLOFEN PUMP,
COULDN'T WRITE BECAUSE OF HER
FINGERS, AND SHE HAD -- NORMAL
INTELLIGENCE BUT COULDN'T DO THE
THINGS SHE WANTED TO DO.
>> WHAT'S YOUR FAVORITE TAYLOR
SWIFT SONG?
>> Y, O, U, B, E, L, O, N, G.
>> YOU BELONG TO ME?
IS THAT IT?
>> SING IT HERE WITH ME.
>> SO SHE CAN ANSWER, BUT SHE
CAN'T SPEAK.
I DON'T KNOW WHO THIS TAYLOR
SWIFT PERSON IS.
BUT APPARENTLY SHE LIKES HER.
WELL, SHE GOT DEEP BRAIN
STIMULATION, AND NOW SHE'S
WALKING.
I GUESS WHEN YOU SEE SOMEONE
WHO'S AFFECTED THAT MUCH, THEN
EVEN INCREASES IN ACTIVITIES OF
DAILY LIVING TO THIS EXTENT HAVE
AN ENORMOUS EFFECT ON THE
PATIENT'S QUALITY OF LIFE, AND
ALSO ON THE FAMILY'S QUALITY OF
LIFE.
REALLY POINTING OUT HOW
IMPORTANT DATA SHARING IS.
BUT NOT JUST DATA SHARING.
STORYTELLING.
COMMUNICATION.
THE WORK THAT JUSTIN DOES.
SO SHE CAN DO STEPS, ET CETERA.
AND THEN JUST A FEW DAYS AGO, I
THINK IT WAS MONDAY OR SO, WE
GET AN EMAIL FROM THE DAD.
AND I'M GOING TO LET YOU READ
THIS.
AND HERE'S THE VIDEO HE SENT.
OKAY, ENOUGH SAID.
WE ALSO DO TRAINING.
SO THE THING THAT I'M REALLY
HAPPY ABOUT IS ON THURSDAY
MORNINGS, ALMOST ALWAYS, MAYBE
ABOUT 80% OF THE TIME, ABOUT
9:00, WE HAVE ROUNDS, AND THE
ROUNDS ARE IN THE AUDITORIUM
NOW.
THE CLINICAL CENTER IS GIVING US
MASUR AUDITORIUM, JIM, BY THE
WAY TO DO OUR ROUNDS AND THERE
ARE ABOUT 60, 70 YOUNG PEOPLE.
THESE ARE POSTBAC LARGELY,
ALMOST ALL OF THEM ARE, SO
THEY'VE DONE COLLEGE AND ARE
SPENDING ONE YEAR OR TWO YEARS
HERE AND MOST OF THEM WANT TO
BECOME PHYSICIANS.
I INTERVIEW A PATIENT IN THE UDP
OR SOMEONE ELSE I KNOW IN THE
COMMUNITY OR SO, AND INTERVIEW
THE PATIENT AND THEN WE TALK
ABOUT THE DISEASE, ET CETERA.
AND IT'S REALLY INSPIRING.
ANYWAY.
IT'S ALSO TRUE THAT OUR YOUNG
PEOPLE HAVE BEEN AUTHORS,
UNDIAGNOSED DISEASE PROGRAM
ARTICLES, WE HAVE A
BIOINFORMATICS JOURNAL CLUB,
GENOME SCHOOL, IN OTHER WORDS WE
DO A LOT OF TRAINING AND THAT
MAY BE ONE OF THE MORE
GRATIFYING THINGS THAT WE
ACCOMPLISH.
WE'VE BEEN VERY PRODUCTIVE IN
THE YEAR 2018, BEFORE COVID, WE
HAD ALREADY ENGAGED 100
PHYSICIANS IN THE INTRAMURAL
PROGRAM FROM 12 INSTITUTES.
572 OF OUR PATIENTS AT THAT TIME
HAD BEEN ENROLLED IN OTHER
PROTOCOLS, ALL THOSE DIFFERENT
PROTOCOLS.
WE REFERRED 159 TO OTHER
INTRAMURAL STUDIES, AND HAD
PUBLICATIONS THAT NUMBERED 37 IN
THAT YEAR, WHICH IF YOU PRORATE
TO THE AMOUNT OF SUPPORT THAT WE
HAD, BECAUSE WE HAD IN THE ORDER
OF $7 MILLION IN SUPPORT FOR OUR
PROGRAM A ANNUALLY AND THE
INTRAMURAL BUDGET IS 5 BILLION
SO THAT'S MAYBE 600 TIMES AS
MUCH.
600 TIMES 37 IS LIKE 25,000
ARTICLES.
THERE WERE NOT 25,000 ARTICLES
PUT OUT BY THE INTRAMURAL
PROGRAM IN AGA 2018.
ALSO 600 PATIENT DAYS PRORATES
TO ABOUT 350,000 PATIENT DAYS
AND USUALLY THERE'S WHAT, 90 OR
100,000, SOMETHING OF THAT
ORDER.
ANYWAY, SO WE'RE PRODUCTIVE.
AND WE HAD NON-UDP INVESTIGATORS
AS CO-AUTHORS OF MANY OF OUR
PAPERS.
BASICALLY WE CAN'T DO THE PROPER
RESEARCH ON ALL THE CASES THAT
WE HAVE.
WE'RE SORT OF ANXIOUS TO GIVE
THEM AWAY.
AND WE PROVIDED ALL SORTS OF
DATABASE SEARCHES FOR
COLLABORATORS WHO MIGHT WANT TO
FIND A VARIANT IN A GENE THAT
THEY'RE STUDYING.
THIS PROGRAM HAS EXPANDED IN
2013 TO A NETWORK OF 7 CLINICAL
SITES FUNDED BY THE COMMON FUND
WITH A COORDINATING CENTER,
SEQUENCING CORES, METABOLIC
CORE, MODEL ORGANISM SCREENING
CENTER, ET CETERA, AND A CON
SENT THAT ALLOWS THE MEMBERS OF
THIS CONSORTIUM TO SHARE
PERSONALLY IDENTIFIED
INFORMATION AND TO SHARE
DE-IDENTIFIED INFORMATION WITH
OTHER INVESTIGATORS AROUND THE
WORLD.
THIS EXPANDED TO 11 SITES IN
2018.
AND IN THE NINE YEARS THAT THIS
WAS EXTANT, THE UDN HAD ALMOST
7,000 APPLICATIONS AND IT
EVALUATED 2400 OR SO, MADE 745 5
DIAGNOSES.
ET CETERA.
AND RIGHT NOW, THE PROGRAM IS
SUPPORTED BY ABOUT $7.7 MILLION
THROUGH A SCHOOL TAX MECHANISM.
IT'S NOT THROUGH THE CLINICAL
CENTER'S SCHOOL TAX, BUT IT'S A
SEPARATE TAX THAT THE INSTITUTE
DIRECTORS AGREED TO SUPPORT.
WE REMAIN A LARGE PART OF THE
UDN.
THE NATIONAL NETWORK HAS A
CLINICAL PROTOCOL THAT I'M THE
PRINCIPAL INVESTIGATOR OF, SO WE
USE THAT AND WE ARE MEMBERS OF
THE STEERING COMMITTEE, THE
EXECUTIVE COMMITTEE AND A BUNCH
OF OTHER COMMITTEES.
ALSO IN 2014, WE ESTABLISHED THE
UNDIAGNOSED DISEASES NETWORK
INTERNATIONAL ALONG WITH THE
WILHELM FOUNDATION, WHICH WAS
FOUNDED BY A WOMAN NAMED HILENE
CEDAROFF WHO HAD THREE CHILDREN
WHO DIED OF AN UNDIAGNOSED
DISEASE.
TOGETHER WE'VE CREATED THE UDNI
WITH 12 INTERNATIONAL MEETINGS
AND POLICIES, ET CETERA, AND THE
PEOPLE WHO COME TO THESE
MEETINGS WHICH GENERALLY THERE
ARE ABOUT MAYBE 80 PEOPLE FROM
AROUND THE WORLD AND THEN MAYBE
ANOTHER 100, 150 LOCALLY, PEOPLE
WHO COME TO THESE MEETINGS PAY
THEIR OWN WAY.
BASICALLY WE'RE A MOM AND POP
SHOP.
WE HAVE NO MONEY.
BUT PEOPLE WANT TO COME BECAUSE
THEY WANT TO SHARE, AND THEY
LOVE THE IDEA OF MAKING
DIAGNOSES.
AND WE ALSO HAVE A LOW AND
MIDDLE INCOME COUNTRIES WORKING
GROUP WITH MEMBERS ALL OVER THE
WORLD AND A CHAMPIONS PROGRAM TO
ESTABLISH UNDIAGNOSED DISEASE
PROGRAMS IN COUNTRIES THAT HAVE
LOW AND MIDDLE INCOME.
WE STARTED OFF WITH THE
DEMOCRATIC R LIN LIB OF CONGO,
GHANA, MALI, PAKISTAN AND INDIA.
AND THE IDEA IS TO WORK
TOGETHER, TO COLLABORATE ON
CASES AND ESTABLISHING CLINICS
IN THOSE COUNTRIES THROUGH
PHILANTHROPY AND SHARING OF
EXPERTISE AND INFORMATION.
THIS IS SOME OF THE KIDS THAT
ARE BEING USED ESSENTIALLY TO
PROMOTE THE CHAMPIONS INITIATIVE
THROUGH THE WILHELM FOUNDATION.
AND NOW THERE ARE ALL OF THESE
UNDIAGNOSED DISEASES PROGRAMS
THROUGHOUT THE WORLD.
THIS DOESN'T WORK PERFECTLY.
AND THEN THOSE IN THE COUNTRY
AND THEY ALL STARTED HERE IN THE
INTERNAL PROGRAM AT THE NIH.
INTRAMURAL PROGRAM AT THE NIH.
PEOPLE CAN WORK WITH US BY
REFERRING PATIENTS IF THEY WANT
OR IF THEY HAVE A FAVORITE GENE,
WE CAN SEARCH FOR THAT GENE AND
SAY YEAH, WE'VE GOT A PATIENT,
THIS IS THE PHENOTYPE, ET
CETERA.
COLLABORATE ON RESEARCH AND I
PROVIDED MY PROTOCOL CONSENT AND
MANUAL OF OPERATIONS TO MANY
PEOPLE AROUND THE WORLD.
THIS IS NOT A PROGRAM THAT I
BELIEVE COULD BE DONE ANYWHERE
ELSE IN THE WORLD EXCEPT AT THE
NIH CLINICAL CENTER.
IN ADDITION TO BEING ABLE TO
PROVIDE THE INFRASTRUCTURE FOR
PATIENTS AND INVESTIGATORS, WE
ALSO HAVE HERE THE EXPERTISE OF
CONSULTANTS AND SPECIALISTS
ESPECIALLY IN RARE DISEASES
THAT'S UNPARALLELED IN THE
WORLD.
IN ADDITION, THE CLINICAL CENTER
GAVE US OFFERS AND CONFERENCE
ROOM SPACE, COMMUNICATIONS
ASSISTANCE AND INCREDIBLE
PATIENT CARE.
SO I'D SAY THAT FOR ALL OF THE
INDIVIDUALS WHO DON'T HAVE A
DIAGNOSIS, MOST OF OUR PATIENTS
COME FROM MAJOR MEDICAL CENTERS,
HAVING BEEN WORKED UP
EXTENSIVELY ALREADY.
FOR ALL THOSE WHO DON'T HAVE A
DIAGNOSIS, MEANING THAT THEY
DON'T HAVE A TREATMENT AND THEY
DON'T HAVE A PROGNOSIS, THEY
DON'T HAVE AN EXPLANATION FOR
THEIR FAMILIES, AND ESPECIALLY
THEY DON'T HAVE A COMMUNITY,
IT'S OUR JOB TO LEND A HAND AND
THE CLINICAL CENTER HELPS US DO
THAT.
THANK YOU.
>> THANK YOU, BILL.
QUESTIONS FOR DR. GAHL?
>> VERY IMPRESSIVE PRESENTATION.
AND CLEARLY AT THE VERY FRONTIER
OF MEDICINE, SO KUDOS TO YOU AND
YOUR TEAM.
QUESTION I HAD, IT'S VERY
INTERESTING BOOK ENDS OF THE
CONVERSATIONS TODAY.
DR. SCHOR, YOU GAVE A VERY
INTERESTING FRAMEWORK I HAD NOT
THOUGHT OF BEFORE WHICH IS WE
LOOK AT -- TYPICALLY WE LOOK AT
UNUSUAL PHENOTYPES AND YOU LOOK
FOR THE GE GENOTYPE, AND THIS IN
EXAMPLE OF A PROGRAM LIKE THAT.
I'M WONDERING IF THERE'S A
PARALLEL, GOING BACK TO
DR. GINSBURG AS PRESENTATION
ABOUT THESE UNUSUAL GENOTYPES
LEADING TO UNDIAGNOSED
PHENOTYPES, AND I WAS WONDERING
HOW THOSE TWO BOOK ENDS LINK
TOGETHER.
>> THEY'RE DIFFERENT, COMPLETELY
DIFFERENT APPROACHES.
I DO THINK THAT THERE CAN BE
SOME INSIGHTS THAT THE VARIANT
FIRST OR GENE FIRST APPROACH
OFFERS.
BECAUSE THIS COULD BE A
DEMONSTRATION OF A NEW DISEASE
THAT COULD SUBSEQUENTLY BE
PHENOTYPE HERE AT THE CLINICAL
CENTER, I'M SURE THAT WAS
PRESENTED.
I THINK THESE ARE IN A WAY
PHILOSOPHICALLY DIFFERENT
APPROACHES.
SO I'M REALLY INTERESTED IN AN
APPROACH THAT WE TAKE BECAUSE I
SEE THE PATIENTS THAT ARE MORE
SEVERELY AFFECTED AND HOW
DEVASTATED THEIR LIVES ARE.
SO THAT'S ALWAYS GOING TO BE MY
APPROACH.
BUT I VALUE ESPECIALLY, LET'S
SAY PHILOSOPHICALLY AND
STRATEGICALLY, THE OTHER
APPROACH TO DETERMINE THE FULL
EXTENT OF PHENOTYPES THAT COULD
BE ASSOCIATED WITH GENETIC
VARIANTS.
>> STEPHANIE.
>> ACTUALLY I WAS GOING TO SAY
ALMOST THE SAME THING THAT
DR. CHIN SAID.
BUT I WILL ASK OR MAKE ONE OTHER
COMMENT.
I THOUGHT IT WAS SO COMPELLING
WHEN YOU SAID WE NEED TO
REMEMBER TO TELL A STORY, WE
NEED TO COMMUNICATE, AND I WORRY
SOMETIMES THAT THE ENORMOUS
BENEFIT THAT ELECTRONIC MEDICAL
RECORDS HAVE BROUGHT TO OUR
PATIENTS AND TO OUR PROVIDES AND
TO OUR INVESTIGATORS AND
EDUCATORS, THEY ALSO IN SOME
WAYS OR AT LEAST AT SOME TIMES
ELIMINATE THAT OPPORTUNITY TO
TELL A STORY BECAUSE THEY'RE SO
PRESCRIPTIVE AT WHAT THEY
INCLUDE.
AND I JUST HOPE THAT YOUR GOOD
WORK ISN'T IN ANY WAY LIMITED BY
THE PRESCRIPTIVE NATURE OF OUR
ELECTRONIC HEALTH RECORDS.
SO THANK YOU.
>> THANK YOU FOR THAT COMMENT.
I HAVE TO SAY, IN LOOKING OVER
THESE RECORDS AND I'VE LOOKED
OVER THOUSANDS OF THEM, THAT
IT'S A HUGE PAIN IN THE NECK TO
SEE COPY FORWARD.
SO WE GET RECORD THAT HAVE
THOUSANDS OF PAGES, LITERALLY
THOUSANDS OF PAGES, AND WE HAVE
TO LOOK THROUGH THE SAME DAMN
THING OVER AND OVER AGAIN.
IT DRIVES ME NUTS!
AND I'M SURE IT DRIVES YOU ALL
NUTS TOO.
SO WE'RE ALL TOGETHER ON THAT.
SO THAT'S A PROBLEM.
BUT YOUR OTHER POINT WAS TELLING
A STORY.
I CAN SAY THAT IN THE EARLY DAYS
OF THIS, THERE WAS A HUGE AMOUNT
OF PUBLICITY ABOUT THIS.
IT WAS ON 60 MINUTES, DISCOVERYY
CHANNEL, ALL THE NEWSPAPERS, ET
CETERA, AND THAT WAS
ESSENTIALLY, OUTSIDE OF THE FACT
THAT ELIAS SIRHUNI GAVE US A
CERTAIN AMOUNT OF MONEY FROM
2010 TO 2012, BUT THE PUBLICITY
IS WHAT ALLOWED FOR THE
CONTINUATION OF THIS PROGRAM
AFTER ELIAS LEFT, AND THAT PUB
PUBLICITY, I ALWAYS SAY IT
SHAMED THE NIH INTO CONTINUING
THE PROGRAM.
AND I DON'T THINK THAT WE WOULD
HAVE A PROGRAM IF THERE WEREN'T
THAT PUBLICITY.
SO -- AND THE PUBLICITY WAS IN
TELLING STORIES.
IT WASN'T JUST LIKE AN
ADVERTISEMENT LIKE, YOU KNOW,
BUY THIS OR SOMETHING OF THAT
SORT.
IT WAS THE HEART-WRENCHING
STORIES OF PEOPLE WHO HAD
BENEFITED FROM HAVING DIAGNOSES.
>> THANK YOU.
>> SHERIN.
>> THANK YOU, NINA.
DR. GAHL, I AGREE WITH YOU, IT'S
A WONDERFUL PROGRAM.
AND IT DOES BRING CLOSURE EVEN
IF NOT TREATMENTS FOR MANY
FAMILIES.
MY QUESTION HAS TO DO WITH THE
FACT THAT NOW EXOME AND WGS HAS
BECOME SO WIDESPREAD THAT IT'S
BEING USED QUITE LIBERALLY,
CERTAINLY NEONATAL POPULATIONS
BUT BEYOND, TO MAKE DIAGNOSES OF
CONDITIONS THAT WE HAD NO IDEA
ABOUT.
IN OTHER WORDS, IT'S DIFFERENT
FROM A FAMILY GOING FROM
INSTITUTION TO INSTITUTION WITH
AN UNDIAGNOSED DISORDER BUT
RATHER BEING DONE PROSPECTIVELY.
SO MY QUESTION IS, THERE'S SO
MANY VARIANTS OF UNKNOWN
SIGNIFICANCE THAT SHOW UP, AND I
WONDERED IF YOU HAVE ANY
INSIGHTS BASED ON YOUR
EXPERIENCES BECAUSE WE CAN'T GO
AFTER EVERY VARIANT, ANY
INSIGHTS YOU COULD SHARE WITH
US?
>> THAT'S EXACTLY THE PROBLEM
THAT WE FACE EVERY DAY WITH
THIS.
THAT IS TO SAY, WE'LL HAVE -- IF
WE'RE LUCKY, WE'LL LIMIT OUR
POTENTIAL DISEASE CAUSING
VARIANTS TO FIVE OR 10 OR SO.
AND WE DON'T REALLY HAVE THE
CAPACITY TO TEST THE FUNCTION OF
EACH OF THOSE VARIANTS IN A
MODEL SYSTEM.
SO WE HAVE TO BE VERY SELECTIVE,
AND IT'S VERY PAINFUL TO SELECT
AGAINST SOME OF THESE.
AND BY THE WAY, YOU'RE RIGHT TO
ABOUT THE PROLIFERATION OF EXOME
AND GENOME SEQUENCING.
NOW ALMOST ALL OF OUR PEDIATRIC
CASES HAVE ALREADY HAD AT LEAST
A SINGLE SINGLETON EXOME, OFTENA
FAMILY EXOME AND SOMETIMES
FAMILY GENOMES, THE ADULTS NOT
SO MUCH.
BUT WE HAVE TO, LET'S SAY, DO
BETTER.
SO WE USE ADVANCED GENETIC
TECHNIQUES.
FOR EXAMPLE, RNA SEQ, WHICH WILL
TELL YOU ABOUT THE EXPRESSION
AND WHETHER THERE ARE SPLICING
DEFECTS, USE THE LONG READ
SEQUENCING WHICH HELPS US TO
FIND SMALLER DELETIONS AND
THINGS OF THAT SORT.
AND NOW WE'RE GETTING INTO
EPIGENETICS AS WELL.
SO THOSE ARE THE ADVANCES WE
HAVE TO MAKE TO ADDRESS THE
ISSUES THAT YOU JUST BROUGHT UP.
AND ALSO COLLABORATION IS
INCREDIBLY IMPORTANT.
I THINK IF I HAD JUST A LITTLE
MORE, LET'S SAY, RESOURCES, I
WOULD PUT SOMEBODY ON DOING
NOTHING BUT TAKING OUR OLD CASES
AND LOOKING TO SEE WHO THE
EXPERT IS IN THE POTENTIAL
DISEASE CAUSING VARIANTS THAT WE
HAD AND CONTACTING THOSE
COLLABORATORS, POTENTIAL
COLLABORATORS, JUST DO THAT FOR
A LIVING.
>> THANK YOU.
>> ANTOINETTE.
>> HI.
>> HI, DR. GAHL.
WHAT IF A DOCTOR LIVES OFF SITE,
AT LIKE A REMOTE LOCATION, GAVE
BIRTH TO A CHILD WITH SOMETHING
VERY OFF WITH THEM, WOULD THEY
BE ABLE TO SEND THE BLOOD WORK
TO YOU OR YOU HAVE TO HAVE THEM
COME IN?
AS A PATIENT TO BE
DIAGNOSED?
>> FIRST OF ALL THEY HAVE TO
APPLY THROUGH THE REGISTRATION
FORM WHICH IS ONLINE, WHICH
LET'S SAY THEY CAN DO THAT.
SECONDLY, WE HAVE TO CONSENT
THEM.
AND WE CAN DO THAT BY PHONE, ET
CETERA, I MEAN, THEY WOULD HAVE
TO SIGN SOMETHING, BUT IT'S A
TECHNICALITY, THAT COULD BE
DONE.
AND THE ANSWER IS YES, WE DO
HAVE PATIENTS WHO CANNOT TRAVEL
BECAUSE THEY'RE SO -- THEY CAN'T
TRAVEL.
AND WE ACCEPT THEIR DNA.
SOMETIMES IT'S A LITTLE BIT OF A
TECHNICAL PROBLEM.
SO WE DON'T CHARGE FOR ANY OF
THAT.
BUT THE PEOPLE WHO DRAW THE
BLOOD CHARGE.
IT'S SORT OF A PAIN FOR US TO
CREATE A CONTRACT WITH EVERY
BLOOD DRAWING PLACE IN THE
COUNTRY.
BUT THAT'S JUST A TECHNICAL
PROBLEM.
THE ANSWER IS YES, WE CAN SEE
THEM.
WE CAN SEE THEIR BLOOD AND WORK
THEM UP FROM A DISTANCE.
HAPPY TO DO THAT.
>> THANKS.
>> WELL, I'VE BEEN WARNED NOT TO
GO OVER, SO I THINK WE'RE RIGHT
ON TIME.
>> GREAT.
THANK YOU SO MUCH.
>> AGAIN, APPRECIATE THE
OPPORTUNITY TO SPEAK.
>> WE REALLY APPRECIATE IT.
OKAY.
THANK YOU ALL FOR A WONDERFUL
MEETING, FOR SOME TRULY
EXCELLENT QUESTIONS THAT I THINK
GOT SOME OF OUR SPEAKERS
THINKING MORE ABOUT WHAT IT IS
THAT THEY WERE PRESENTING.
I DO WANT TO MAKE A COUPLE OF
ANNOUNCEMENTS BEFORE WE CLOSE.
OUR FINAL MEETING THIS YEAR WILL
BE FRIDAY, OCTOBER 18TH.
THE 2025 MEETING DATES ARE GOING
TO BE ANNOUNCED VERY SHORTLY,
AND YOU'LL GET NOTICE OF THAT.
AND I JUST -- ANY OF YOU WHO CAN
STAY AFTERWARDS, THE BOARD'S
COMMITTEE MANAGEMENT TEAM IS
GOING TO JOIN VIA ZOOM TO GIVE
UPDATES REGARDING MEMBERSHIP
REPORTING REQUIREMENTS, AND WILL
ANSWER ANY QUESTIONS.
SO THE COMMITTEE MANAGEMENT
PRESENTERS ARE MANDY STONEBERGER
AND AZEL WOODEN.
AND ARE THERE ANY FURTHER
QUESTION, THINGS WE SHOULD
DISCUSS?
OKAY, THEN I'M GOING TO TAKE MY
GAVEL AND ADJOURN THE MEETING.
THANK YOU ALL.