>> HELLO, EVERYONE.
WELCOME TO TODAY'S EVENT WHICH
IS JOINTLY HOSTED BY THE WHITE
HOUSE OFFICE OF SCIENCE AND
TECHNOLOGY POLICY AND THE EUNICE
KENNEDY SHRIVER INSTITUTE OF
CHILD HEALTH AND HUMAN
DEVELOPMENT.
MY NAME IS MAX BRON BRONSTEIN AND ONE
OF THE ORGANIZERS OF TODAY'S
EVENT.
TODAY WE'LL BE TALKING ABOUT
CLINICAL GENOMICS: ENDING
DIAGNOSTIC ODYSSEYS AND
ENHANCING EQUITY IN PATIENT
CARE.
SO WE'LL BE KICKING OFF WITH
SOME OPENING REMARKS FROM TWO
SPEAKERS.
FOLLOWED BY OUR FIRST PANEL ON
ADVANCING DIAGNOSIS AND
IMPROVING CLINICAL CARE.
NEXT WE HAVE A KEYNOTE FROM OUR
CMS SPEAKER SETTING THE STAGE
FOR OUR SECOND PANEL ABOUT STATE
MODELS FOR ADVANCING COVERAGE
AND ACCESS WHICH WILL FEATURE
THE STATE OF MICHIGAN.
I ALSO HAVE TO TAKE A MOMENT TO
THANK AND ACKNOWLEDGE THOSE
PARTICIPANTS WHO SUBMITTED
QUESTIONS.
WE ACTUALLY RECEIVED WELL OVER A
HUNDRED OF THEM AND OUR
MODERATORS WILL ADDRESS AS MANY
AS WE CAN IN THE TIME ALLOTTED
TODAY.
WITH THAT, LET ME TURN IT OVER
TO OUR FIRST SPEAKER, DR. DIANA
BIANCHI, THE DIRECTOR OF NICHD.
OVER TO YOU, DR. BIANCHI.
>> THANK YOU, MAX.
GOOD AFTERNOON, EVERYONE.
WELCOME TO TODAY'S WEBINAR.
AS MAX SAID, I'M DR. DIANA
BIANCHI, THE DIRECTOR OF THE
EUNICE KENNEDY SHRIVER NATIONAL
INSTITUTE OF CHILD HEALTH AND
HUMAN DEVELOPMENT.
IT'S A MOUTHFUL.
SO I'M GOING TO REFER TO IT AS
NICHD, AT THE NATIONAL
INSTITUTES OF HEALTH.
I'M ALSO A MEDICAL GENETICIST
AND A NEONATOLOGIST.
WITHIN NIH, NICHD SUPPORTS
RESEARCH ON THE DEVELOPMENT AND
IMPLEMENTATION OF NEW AND
EXISTING SCREENING TESTS FOR THE
PRE-PREGNANCY, PRENATAL, NEWBORN
AND EARLY CHILDHOOD PERIODS.
WE ALSO SUPPORT RESEARCH THAT
EVALUATES THE EFFICIENCY AND
EFFECTIVENESS OF TRANSLATING
THESE TOOLS INTO CLINICAL CARE,
AND THE PUBLIC HEALTH SETTING.
IN PARTNERSHIP WITH OUR
COLLEAGUES AT NHGRI, WE
SUPPORTED THE NEWBORN SEQUENCING
IN GENOMIC MEDICINE AND PUBLIC
HEALTH INITIATIVE, OR NSITE.
TWO OF THESE PROJECTS LOOKED AT
CLINICAL GENOMIC SEQUENCING IN
THE INTENSIVE CARE SETTING.
IMPORTANTLY, THESE PROJECTS
DEMONSTRATED THE UTILITY AND THE
COST-EFFECTIVENESS OF SEQUENCING
IN THIS SETTING FOR THE
DIAGNOSIS, TREATMENT AND
MANAGEMENT OF THESE CRITICALLY
ILL BABIES.
IN FACT, ONE OF THESE PROJECTS
LAID THE FOUNDATION FOR
SUBSEQUENT EFFORTS TO PROMOTE
NEWBORN SEQUENCING THROUGH A
STATE-BASED MEDICAID COVERAGE
PROGRAM, AND YOU'LL HEAR ABOUT
THAT LATER TODAY.
WE KNOW THAT FOR MANY FAMILIES,
THE JOURNEY TO REACH A DIAGNOSIS
CAN TAKE YEARS, AND BE FRAUGHT
WITH CHALLENGES AND OBSTACLES
ALONG THE WAY, INCLUDING THE
LACK OF A DIAGNOSIS OR
MISDIAGNOSIS, OR A LACK OF
INSURANCE COVERAGE FOR
DIAGNOSTIC TESTS THAT HAVE BEEN
PURSUED ALONG THE WAY.
ONE OF THE PROGRAMS SUPPORTED
THROUGH THE NIH COMMON FUND HAS
BEEN THE UNDIAGNOSED DISEASES
PROGRAM AND NETWORK.
THROUGH THIS NIH-WIDE
INITIATIVE, WHICH ALSO INVOLVES
INSTITUTIONS OUTSIDE OF NIH,
HUNDREDS OF INDIVIDUALS WITH
PERPLEXING CONSTELLATIONINGS OF CONSTELLAT IONS OF
SYMPTOMS HAVE FOUND IN
DIAGNOSIS, IN MOST CASES THIS
HAS BEEN FA TILL TATED BY
GENOMIC SEQUENCING APPROACHES.
AT LEAST 50% OF THOSE WHO WERE
DIAGNOSED WERE CHILDREN AND THEY
WERE PREVIOUSLY UNDIAGNOSED.
THIS PROGRAM SHOWS THE
IMPORTANCE OF GENOMIC SEQUENCING
TO SHORTEN THE DURATION OF THE
DIAGNOSTIC ODYSSEY, AND IT IS
NOW EXPANDED INTERNATIONALLY.
EFFORTS ARE UNDERWAY TO DEVELOP
A SUSTAINABLE MODEL FOR
DIAGNOSING THE PREVIOUSLY
UNDIAGNOSED THAT ENCOURAGES
INSURANCE COVERAGE TO FUND THESE
GENOMIC ANALYSES.
AT THE SAME TIME, THERE HAVE
BEEN INCREDIBLE RECENT ADVANCES
IN THERAPEUTIC OPTIONS TO TREAT
MANY DISEASES VERY EARLY IN
LIFE.
AND EARLY DIAGNOSIS CAN LEAD TO
EARLIER LIFE-SAVING TREATMENT
OPTIONS AND BETTER LONG-TERM
OUTCOMES FOR THESE CHILDREN.
RECENTLY ADOPTED NEWBORN
SCREENING CONDITION SPINAL
MUSCULAR ATROPHY NOW HAS TWO
GENE BASED THERAPIES CURRENTLY
AVAILABLE.
THE DEVELOPMENT OF THESE NOVEL
THERAPEUTICS WAS FACILITATED BY
NICHD'S INVESTMENT IN
FUNDAMENTAL RESEARCH TO
UNDERSTAND THE NATURAL HISTORY
OF SPINAL MUSCULAR ATROPHY, AND
ITS SUPPORT OF EARLY TREATMENT
TRIALS FOR THIS CONDITION.
THIS IS BUT ONE EXAMPLE OF HOW
NIH'S INVESTMENTS CAN PAVE THE
WAY FOR GENOMIC TREATMENTS IN
THE FUTURE.
IT'S ALSO IMPORTANT TO NOTE THAT
WHILE RESEARCH ADVANCES HAVE LED
TO SOME EXCITING NEW THERAPIES,
MANY OF THE CONDITIONS DIAGNOSED
IN GENOMICS SEQUENCING CAN BE
TREATED AT A VERY LOW COST.
FOR EXAMPLE, WITH DIETARY
CHANGES, WITH VITAMIN
SUPPLEMENTS, OR REPURPOSED
DRUGS.
INVESTMENTS IN GENOMICS
SEQUENCING RESEARCH AND
THERAPEUTIC DEVELOP DEVELOPMENT
HAVE BROUGHT US TO THE POINT
WHERE WE ARE TODAY.
WE HAVE THE KNOWLEDGE TO MAKE AN
ENORMOUS IMPACT ON IMPROVING
QUALITY AND LENGTH OF LIFE FOR
CHILDREN WHO HAVE RARE AND/OR
DIFFICULT-TO-DIAGNOSE DISEASES.
NOW WE MUST WORK TO ENSURE
EQUITABLE ACCESS TO THESE TOOLS
AND TREATMENTS.
I'D LIKE TO THANK ALL OF THE
PANELS PARTICIPATING IN TODAY'S
WEBINAR, AND ESPECIALLY
MS. SUSIE WINGATE, FOR SHARING
HER FAMILY'S JOURNEY TO
DIAGNOSIS FOR HER YOUNG SON.
AND NOW I'LL TURN THE PROGRAM
OVER TO DR. CARRIE WOLINETZ FOR
HER WELCOMING REMARKS.
>> THANK YOU, DR. BIANCHI.
THANK YOU BOTH FOR YOUR
PARTNERSHIP IN THIS EVENT, AS
WELL AS YOUR EXTRAORDINARY
SCIENTIFIC LEADERSHIP OF NICHD,
WHICH YOU APPROACH WITH SUCH
GREAT PASSION AND COMPASSION.
IT GREATLY APPRECIATED.
THANK YOU, ECHOING DIANA'S
GRATITUDE TO ALL OF OUR
PANELISTS WHO JOINED US ON VERY
SHORT NOTICE TO SHARE THEIR
EXPERTISE TODAY FOR THIS REALLY
CRITICAL CONVERSATION, AND THANK
YOU TO ALL OF YOU WHO ARE TUNING
IN TO THIS EVENT.
I JOIN YOU TODAY AS THE DEPUTY
DIRECTOR FOR HEALTH AND LIFE
SCIENCES FROM THE WHITE HOUSE
OFFICE OF SCIENCE AND TECHNOLOGY
POLICY.
OUR MISSION IS TO MAXIMIZE THE
BENEFIT OF SCIENCE AND
TECHNOLOGY TO ADVANCE HEALTH,
PROSPERITY, SECURITY,
ENVIRONMENTAL QUALITY AND
JUSTICE FOR ALL AMERICANS.
WE REALLY EPITOMIZE TWO OF THE
CENTRAL VALUES OF THE BIDEN
HARRIS ADMINISTRATION, BOTH THE
WILLINGNESS AND COMMITMENT TO
FOLLOW THE SCIENCE, AS WELL AS
THE FOCUS ON EQUITY TO MAKE SURE
THAT THE BENEFITS THAT -- THE
FRUITS OF THAT SCIENCE REALLY
ARE EQUITABLY DISTRIBUTED ACROSS
THE UNITED STATES.
I LEAD THE FIRST EVER HEALTH
SCIENCE DIVISION AND OSTP WHICH
HAS TRADITIONALLY BEEN MUCH MORE
FOCUSED ON THE PHYSICAL SCIENCES
AND I THINK THIS SPEAKS TO THE
MOMENT IN WHICH WE ARE EXISTING
AT THE TAIL END OF THE HISTORIC
AND UNPRECEDENTED COVID-19
PANDEMIC, BUT ALSO AT THE BRINK
OF TRULY EXCITING POSSIBILITIES
ENABLED BY BIOLOGY AND OUR
UNDERSTANDING OF HUMAN HEALTH
AND BIOTECHNOLOGY, INCLUDING
GENOMIC SEQUENCING AND ITS
CLINICAL APPLICATIONS, WHICH IS
WHAT WE ARE FOCUSED ON, OF
COURSE, TODAY.
ACCELERATING TECHNOLOGICAL AND
BIOMEDICAL ADVANCES TO REALLY
GET INNOVATION INTO THE HANDS OF
PATIENTS IS SOMETHING THAT THE
PRESIDENT AND THE VICE PRESIDENT
ARE PERSONALLY VERY PASSIONATE
ABOUT AS EVIDENCED BY
INITIATIVES LIKE THE CANCER
MOONSHOT, OR THE STANDING UP OF
A NEW RESEARCH AGENCY, THE
ADVANCED RESEARCH PROJECT AGENCY
FOR HEALTH OR ARPA-H, AND THIS
IS SOMETHING THAT WE WANT TO
MAKE SURE IS NOT ONLY MOVING
FASTER, BUT IS ALSO REACHING
EVERYONE ACROSS THE NATION WHO
NEEDS IT.
SO AS WE JUST HEARD FROM
DR. BIANCHI, WE'RE REALLY SEEING
THE EMERGENCE OF POWERFUL
SEQUENCING TECHNOLOGIES OVER THE
LAST DECADE.
IN SOME CLINICAL SCENARIOS, THAT
CAN BE LIFE-CHANGING, AND EVEN
LIFE-SAVING FOR PATIENTS, AND I
ECHO DR. BIANCHI'S THANKS TO THE
WINGATE FAMILY FOR SHARING THEIR
STORY TODAY.
I THINK IT'S CRITICALLY
IMPORTANT TO PUT A HUMAN FACE ON
WHAT MAY SEEM LIKE AN ABSTRACT
CONCEPT.
SO I AM APPROACHING YOU TODAY AS
A SCIENTIST AND A POLICY MAKER,
BUT ALSO AS A CARRIER OF A RARE
DISEASE WHICH I KNOW BECAUSE I,
LIKE MANY, MANY OTHER FAMILIES,
FOUND OUT WHEN I HAD A CHILD WHO
WAS UNEXPECTEDLY BORN SICK, WITH
A RARE DISEASE, AND SO I'VE HAD
THE PERSONAL EXPERIENCE OF
HORROR, OF SADNESS, OF SHOCK, OF
HAVING AN INCREDIBLY SICK CHILD,
AND HAVING NO IDEA WHAT THE
CONDITION THEY ARE SUFFERING
FROM IS.
IN SOME WAYS, NOT KNOWING, NOT
KNOWING WHAT THE DIAGNOSIS IS,
NOT KNOWING IF THERE'S A
TREATMENT AVAILABLE, NOT KNOWING
WHAT THEIR FUTURE HOLDS IS
ALMOST WORSE THAN THE SICKNESS
ITSELF.
AND SO THE ABILITY TO USE
TECHNOLOGY LIKE GENOMICS
SEQUENCING TO END THAT ODYSSEY
IS NOT AN ABSTRACT CONCEPT, IT
IS REAL IN THE LIVES OF MANY,
MANY PATIENTS AND THEIR FAMILIES
EVERY DAY ACROSS THE UNITED
STATES.
SIX WEEKS AFTER THE DEATH OF MY
DAUGHTER, WHEN I JUST COULDN'T
STAND TO BE HOME ALONE WITH MY
GRIEF ANYMORE, I WENT BACK TO
WORK, AND WITHIN THAT FIRST
WEEK, LED A MEETING CELEBRATING
ALL OF THE RETURNS OF THE HUMAN
GENOME PROJECT.
THIS WAS A MASSIVE PUBLIC AND
PRIVATE INVESTMENT IN WHICH WE
HAVE SEEN THE CLINICAL RETURNS,
THE ECONOMIC RETURNS JUST GROW
BY ORDERS OF MAGNITUDE EVERY
YEAR SINCE ITS COMPLETION.
AT THAT EVENT WAS A FAMILY WHO
AGAIN GAVE THEIR STORY OF A
DIAGNOSTIC ODYSSEY, THE
WELL-KNOWN STORY OF THE BERIE
FAMILY, WHO HAD TWINS BORN WITH
AN UNDIAGNOSED DISEASE AND
THANKS TO GENOMICS SEQUENCING,
WERE ABLE TO FIND TREATMENT THAT
ALLOWED THEM TO LIVE HAPPY,
HEALTHY LIVES.
IN THEIR CASE, THEY WERE QUITE
FORTUNATE THAT THEIR FATHER WAS
ASSOCIATED WITH A COMPANY THAT
WAS INVOLVED IN GENOMICS
SEQUENCING.
BUT YOUR ACCESS TO TECHNOLOGY
SHOULD NOT DEPEND ON WHO YOU
KNOW, IT SHOULD NOT DEPEND ON
WHERE YOU LIVE, IT SHOULD REALLY
BE AVAILABLE IN WAYS THAT CAN
HELP SAVE PEOPLE'S LIVES AND END
THAT DIAGNOSTIC ODYSSEY.
AS WE'VE ENGAGED WITH
STAKEHOLDERS ACROSS THE COUNTRY,
WE'VE HEARD A LOT ABOUT BARRIERS
AND CHALLENGES IMPEDING ACCESS
TO THIS TECHNOLOGY TO PATIENT,
TO FAMILIES, WHETHER THAT'S
GEOGRAPHIC ISSUES, LIKE BEING IN
A RURAL PART OF THE COUNTRY THAT
ARE FAR FROM SPECIALTY CARE OR
SEQUENCING CENTERS, PROVIDERS
THAT ARE PERHAPS NOT FAMILIAR
WITH THE POWER OF SEQUENCING
TECHNOLOGIES AND USE OF CLINICAL
APPLICATION.
THE PATCHWORK OF INSURANCE
COVERAGE THAT CAN CREATE AND
EXACERBATE EXISTING HEALTH AND
ACCESS DISPARITIES, AND SO ALL
OF THIS, HEARING ALL OF THESE
VOICES AND MORE THAT YOU'RE
GOING TO HEAR TODAY, IS WHY WE
ARE SO PLEASED TO PARTNER WITH
NICHD TO CONVENE TODAY'S EVENT,
TO HELP SHOWCASE THOSE WHO ARE
DRIVING THE EVIDENCE BASE AND
ADVANCES IN CARE, AND THOSE WHO
ARE HELPING TO ENSURE PATIENT
ACCESS, WHICH CAN REALLY BE A
KEY DRIVER FOR ADVANCING EQUITY
AND SHRINKING HEALTH
DISPARITIES.
I'M REALLY LOOKING FORWARD TO A
LIVELY DISCUSSION ON THESE
TOPICS.
WE'VE GOT JUST SOME REALLY
EXTRAORDINARY PANELISTS.
THANK YOU FOR BEING HERE TODAY,
AND A SPECIAL THANKS TO MY
COLLEAGUE, MAX BRONSTEIN, WHO
HAS REALLY DONE THE VAST
MAJORITY OF THE WORK IN BRINGING
US TOGETHER TODAY.
SO I'D LIKE TO TURN IT OVER WITH
GREAT PLEASURE TO DR. CHESTER
BROWN, THE GENETICS DIVISION
CHIEF AT LE BONHEUR CHILDREN'S
HOSPITAL WHO'S GOING TO BE
MODERATING OUR FIRST PANEL.
SO DR. BROWN, OVER TO YOU AND
THANK YOU FOR BEING HERE.
>> ALL RIGHT.
THANK YOU, CARRIE, FOR THAT
INTRODUCTION.
FIRST OF ALL, THANK YOU TO THE
ORGANIZERS FOR GIVING ME THIS
OPPORTUNITY TO REALLY HELP
MODERATE A GROUP OF CLEARLY
DISTINGUISHED IN MANY DIFFERENT
WAYS PANELISTS WHO WILL PROVIDE
THEIR OWN INSIGHT INTO THE
IMPORTANCE OF THE EFFORTS THAT
ARE BEING ADDRESSED TODAY.
AGAIN, I'M DIVISION CHIEF, IT IS
LE BONHEUR, THAT'S WHAT WE CALL
IT IN TENNESSEE, THE GOOD HOUR.
THERE'S A STORY BEHIND THAT IF
ANYONE IS INTERESTED.
BUT I COME TO YOU FROM THE
PERSPECTIVE OF A CLINICAL
GENETICIST WHO HAS NEVER LEFT
CLINICAL PRACTICE SINCE
FINISHING FELLOWSHIP BACK IN THE
MID 1990s, DO A LOT OF OTHER
THINGS AS WELL, BUT NOTHING MORE
IMPORTANT THAN TRYING TO PROVIDE
THE BEST POSSIBLE CLINICAL
GENETICS SERVICES TO THE
PATIENTS, PARTICULARLY THE
CHILDREN THAT WE SERVE TO WHOM
WE HAVE THE GREATEST OPPORTUNITY
TO PROVIDE QUALITY OF LIFE
YEARS.
SO WE HAVE AGAIN A VERY
DISTINGUISHED GROUP OF PANELISTS
TODAY WHO ARE GOING TO ADDRESS
SOME OF THE CRITICAL ISSUES, I
THINK, THAT ARE IMPORTANT FOR US
TO THINK ABOUT.
HAVING BEEN THERE AT THE
BEGINNING OF THE MOLECULAR ERA,
IF YOU WILL, OF DIAGNOSTICS, I
WATCHED THINGS GO THROUGH WHAT I
LIKE TO CALL THE CIRCLE OF LIFE.
THAT SOMEONE DEVELOPS A NEW
TECHNOLOGY AND BEGINS TO
IMPLEMENT IT CLINICALLY.
THEY ASK FOR INSURANCE TO HELP
SUPPORT THAT EFFORT AND
UNDERSTANDABLY INSURANCE
COMPANIES SAY, HEY, THIS IS NOT
PROVEN TO BE EFFECTIVE.
IT'S EXPERIMENTAL, YOU KNOW,
THAT KIND OF THING.
NEVERTHELESS, COMPANIES CONTINUE
TO DEVELOP THE TECHNOLOGIES,
THEY COMPETE WITH EACH OTHER,
THEY DRIVE THE COST DOWN,
FRANKLY, AND ULTIMATELY IT
BECOMES A PART OF MAINSTREAM
PRACTICE ONCE EVIDENCE BASE HAS
BEEN DEVELOPED.
THAT HAS BEEN ONE OF THE KEY
THINGS IN RECENT YEARS THAT HAS
DEVELOPED, OUR ABILITY TO, IN
FACT, DEVELOP THAT EVIDENCE BASE
TO SHOW THAT WHAT WE'RE DOING IN
THAT REGARD IS EFFECTIVE.
ANOTHER IMPORTANT THING TO
CONSIDER IS THE MEASURE OF
CLINICAL UTILITY.
SOME LIKE TO ADD PERSONAL
UTILITY TO THAT DEFINITION.
THINKING BEYOND THE WHAT DID
THIS CHANGE AS FAR AS A DRUG
THAT YOU GAVE OR SPECIFIC
CLINICAL INTERVENTION.
AS YOU'LL HEAR FROM OUR
PANELISTS, THERE'S QUITE A BIT
OF VALUE TO JUST KNOWING THE
ANSWER, IN FACT, AND AS WE JUST
HEARD, A NUMBER OF THERAPEUTICS
THAT ARE NEW, NOVEL, BASED ON
THESE DISCOVERIES.
SO I THINK THIS IS A VERY
IMPORTANT THING TO CONSIDER.
IT MORE THAN JUST A THERAPY OR
INTERVENTION.
ANY NUMBER OF THINGS CONTRIBUTE
TO IMPORTANT CLINICAL UTILITY.
AND FINALLY, SOMETHING NEAR AND
DEAR TO MY HEART, HAVING
PRACTICED AT BAYLOR COLLEGE OF
MEDICINE FOR ABOUT 23 YEARS
BEFORE MY MOVE TO MEMPHIS,
MEMPHIS WHERE THE POPULATION IS
ROUGHLY 64% AFRICAN AMERICAN,
THERE ARE ECONOMIC CHALLENGES IN
THIS PART OF THE COUNTRY, AND WE
ARE CONSTANTLY FACED IN OUR
TRI-STATE AREA OF TENNESSEE,
MISSISSIPPI, AND ARKANSAS, THE
CHALLENGES OF GETTING THE
GENETIC SERVICES FOR THE
PATIENTS WE SERVE.
SO AN IMPORTANT CONSIDERATION IS
ACCESS.
WILL WE BE CREATING GREATER
DISPARITIES IF WE IMPLEMENT
THESE TECHNOLOGIES, AND I
MAINTAIN THE ANSWER TO THAT
QUESTION IS NO, BUT ONLY IF WE
WORK TOGETHER.
IF THE CLINICIANS INVOLVED, IF
THE PAYORS INVOLVED, IF THE
FEDERAL GOVERNMENT, PATIENTS
THEMSELVES, GENOMIC RESEARCHERS,
ALL WORK IN CONCERT TO MAKE SURE
THAT WE ARE NOT CREATING EVEN
GREATER DISPARITIES.
AND WITH THAT, I'M GOING TO MOVE
ON TO THE INTRODUCTION OF OUR
FIRST PRESTIGIOUS GUEST AND
PANELIST, TERI MANOLIO, WHO IS
AT THE NHGRI AND DIRECTOR OF THE
DIVISION OF GENOMIC MEDICINE.
TERI?
>> THANK YOU VERY MUCH.
GOOD AFTERNOON, GOOD MORNING,
EVERYONE.
I'VE BEEN ASKED TO SPEAK ON THE
EMERGENCE OF CLINICAL
SEQUENCING, WHICH REALLY BEGAN
WITH THE HUMAN GENOME PROJECT.
YOU HEARD A LITTLE BIT ABOUT
THAT FROM CARRIE, WHEN THE
GENOME PROJECT PUBLISHED ITS
DRAFT SEQUENCE THE GENOME IN
2001, THE ESTIMATED COST WAS
ABOUT $100 MILLION PER GENOME, A
LITTLE BIT EXTRAVAGANT, EVEN FOR
OUR HEALTHCARE SYSTEM.
BUT YOU CAN SEE THAT OVER TIME,
THE COSTS HAVE REALLY COME DOWN
QUITE DRAMATICALLY.
THAT WAS NOT ACCIDENT TALL AND
THIS BIG INFLECTION POINT THAT
YOU CAN SEE HERE IN 2007 WAS THE
INTRODUCTION OF A DISRUPTIVE
TECHNOLOGY INTERSECTION GENOME
SEQUENCING, THAT ACTUALLY HAD
BEEN THE PRODUCT OF A HUGE
AMOUNT OF EFFORT AND INVESTMENT,
BOTH FROM MY INSTITUTE, NHGRI,
AND OTHERS IN WHAT WERE CALLED
THE $100,000 GENOME AND THOUSAND
DOLLAR GENOME PROJECTS, AND YOU
CAN SEE IN BLUE THE FORMER AND
THEN THE CONTINUED INVESTMENT
FOR THE LATTER.
TOTALING ABOUT 200 MILLION FOR
OUR RELATIVELY SMALL INSTITUTE.
BUT IT REALLY BORE TREMENDOUS
FRUIT.
AND THIS WAS AN ACADEMIC
PUBLIC-PRIEF COLLABORATION IN
DEVELOPMENT OF SEQUENCING
TECHNOLOGY, AND IT CONTINUES
TODAY.
SO WE ARE WORKING VERY ACTIVELY
TO TRY TO IMPROVE AND REFINE AND
MAKE MORE EFFICIENT SEQUENCING,
AND YOU CAN SEE SORT OF IN
YELLOW THE ACADEMIC CONTRIBUTION
WAS AT THE VERY BASIC LEVEL THAT
WOULD NOT/COULD NOT BE PURSUED
BY INDUSTRY, AND THAT KIND OF
SHIFTED OVER THEN INTO PROOF OF
PRINCIPLE STUDIES IN THE
ACADEMIC SECTOR MIXED WITH
PUBLIC-PRIVATE PARTNERSHIP, MORE
THEN OVER TO THE PRIVATE SECTOR
FOR PROTOTYPING AND ALPHA AND
BETA TESTING SEQUENCING CENTERS
WERE SUPPORTED BY NHGRI, THE
LARGE SCALE GENOME SEQUENCING
CENTERS, AND THEY LED TO SORT OF
HARDENING OF THIS PRODUCTION AND
THEN ROUTINE PRODUCTION, AND
THROUGHOUT, THERE WAS NIH
SUPPORT, WHICH CONTINUES TODAY
FOR THESE PROGRAMS.
IN TRYING TO MOVE THIS, THOUGH,
INTO CLINICAL IMPLEMENTATION,
WE'VE HAD A VARIETY OF PROGRAMS.
HEARD ABOUT A COUPLE OF THEM
ALREADY.
AIM TO KIND OF THINK OF THEM ON
A SPECTRUM WITH THE INCREASING
DEPTH OF PATIENT
CHARACTERIZATION ALONG THE Y
AXIS AND THE INCREASING BREADTH
OF IMPLEMENTATION ALONG THE X
AXIS.
WE WANTED TO MOVE FROM THE LOWER
LEFT TO THE UPPER RIGHT, IF YOU
WILL.
YOU HEARD MENTION OF THE UDN AND
THE NSITE PROJECT, BOTH OF WHICH
WERE FOCUSED VERY MUCH ON
INDIVIDUAL PATIENT AND COMING UP
WITH A DIAGNOSIS AND POTENTIAL
CLINICAL CARE FOR THE
INDIVIDUAL.
AND TESTING MULTIPLE MODELS TO
FIND OUT WHAT WAS THE BEST WAY
OF GOING ABOUT THIS.
OUR CAESAR PROGRAM, CLINICAL
SEQUENCING EVIDENCE GENERATING
RESEARCH THEN MOVED A LITTLE BIT
FURTHER TO THE RIGHT AND UPWARD
INCLUDING A FOCUS ON OTHER
STAKEHOLDERS, CLINICIANS AND
LABS IN PARTICULAR.
AND THEN THE ADDITION OF THE
EMERGE AND IGNITE NETWORKS,
IGNITE BEING A CLINICAL TRIAL
PROGRAM, AND EMERGE FOCUSING
CURRENTLY ON THIS PREDICTION
REALLY MOVED MUCH MORE INTO
EVIDENCE GENERATION THAN
SYSTEM-WIDE IMPACT.
OVERARCHING ALL OF THESE IS
CLINGEN, AN INTERNATIONAL EFFORT
OF OVER A THOUSAND INVESTIGATORS
WORLDWIDE FOCUSED ON
STANDARDIZED APPROACHES TO
VARIANT CURE RANGE OF MOTION AND
INTERPRETATION.
FOCUSING DOWN NOW ON THE UDN,
WHICH IS QUITE RELEVANT TO OUR
DISCUSSION TODAY, THIS HAS
ALWAYS BEEN QUITE
PATIENT-FOCUSED.
PATIENTS CAN APPLY DIRECTLY AND
THERE ARE LINKS AND VAICTS IN
ENGLISH AND VAIBILITIES
IN ENGLISH
AVAILABILITIES IN SPANISH AND
ENGLISH.
THE OFFICE OF RARE DISEASES
RESEARCH THEN EXPANDED OUTWARD
TO INCLUDE 12 OTHER SITES.
SO A VERY ACTIVE PROGRAM AND
EARLY IN THEIR EVOLUTION, THEY
PUBLISHED A COUPLE OF PAPERS
LOOKING AT THE FIRST 400
PATIENTS THAT THEY HAD
EVALUATED.
OVER A THIRD RECEIVED DIAGNOSES
AND THIS WAS IN 2019, SO IT'S A
LITTLE BIT HIGHER THAN THAT
SINCE THEN.
THREE QUARTERS OF THOSE
DIAGNOSES WERE MADE BY
SEQUENCING, 21% LED TO
RECOMMENDED CHANGES IN THERAPY,
WELL OVER A THIRD TO CHANGES IN
DIAGNOSTIC TESTING AND ABOUT THE
SAME NUMBER TO VARIANT-SPECIFIC
GENETIC COUNSELING.
SO THIS HAD QUITE AN IMPACT.
BUT ONE OF THE BIG CHALLENGES TO
NOT ONLY IN THE UDN BUT IN
GENETIC RESEARCH IN GENERAL AND
MUCH OF MEDICAL RESEARCH IN THIS
COUNTRY WAS THE VAST INEQUITY IN
ANCESTRAL REPRESENTATION THAT
YOU HEARD A LITTLE BIT ABOUT
FROM CHESTER OF RESEARCH
PARTICIPANTS COMPARED TO THE
GLOBAL POPULATION.
AND THIS IS SHOWING OVER TIME
OVER THE PAST ROUGHLY 10 TO 15
YEARS, EUROPEAN ANCESTRY
INDIVIDUALS, AND THAT'S DEFINED
IN A VARIETY OF WAYS, BUT AT ANY
RATE, ARE CONSIDERABLY
OVERREPRESENTED COMPARED TO
THEIR PROPORTION IN THE
POPULATION, ABOUT A SIXTH OF THE
WORLD'S POPULATION, BUT YOU CAN
SEE THEY'RE 80% OR MORE OF THE
GROUP THAT HAS BEEN STUDIED IN
THIS WAY.
AND COMPARATIVELY MUCH, MUCH,
MUCH LESS IN OTHER POPULATIONS,
SOME OF WHICH DON'T EVEN SHOW UP
ON THESE GRAPHS.
SO THIS IS A MAJOR PROBLEM, WE
ARE TRYING TO ADDRESS IT AT
NHGRI AND OTHER PARTS OF NIH BY
REQUIRING INCREASED
REPRESENTATION OF UNDERSTUDIED
GROUPS FOR RESEARCH QUESTIONS
THAT PARTICULARLY ARE IMPORTANT
TO TARGET THEM, WHICH IS MANY IF
NOT MOST.
AND WE HAVE RECOGNIZED THAT
THERE ARE CRITICAL QUESTIONS
THAT REMAIN IN CLINICAL
SEQUENCING THAT WE'RE CONTINUING
TO PURSUE.
AMONG THEM, WHAT TECHNOLOGIES OR
APPROACHES CAN IMPROVE THE RATE
OF DIAGNOSIS AND DEVELOPMENT OF
TREATMENT FOR UNDIAGNOSED AND
RARE DISEASE PATIENTS.
AS YOU SAW, WE STILL HAVE HALF
TO TWO THIRDS OF THESE PATIENTS
WHO DON'T GET AN INITIAL
DIAGNOSIS FROM CLINICAL
SEQUENCING.
HOW DOES CLINICAL USAGE GINO
IMAGINE -- AND IN IN LOW
RESOURCE SETTINGS.
WHAT'S THE IMPACT OF USING
GENOMIC SEQUENCE INFORMATION TO
PREDICT THE RISK OF COMMON
DISEASES AND HOW CAN WE MAKE
GENOME SEQUENCING DATA MOST
READILY AVAILABLE TO PATIENTS
AND CLINICIANS AS PATIENTS MOVE
ACROSS DIFFERENT HEALTHCARE
SYSTEMS AND THROUGHOUT THEIR
LIVES?
SO WITH THAT, I WILL STOP
SHARING AND TURN IT OVER TO
SUSIE WINGATE, WHO IS MOTHER AND
PARENT ADVOCATE FOR HER SON
HUDSON, WHO'S LIVING WITH A RARE
GENETIC DISORDER CALLED
RIBOFLAVIN TRANSPORTER DISORDER
OR RTD.
>> THANK YOU SO MUCH, TERRY.
IT'S SUCH A PLEASURE TO BE HERE
TODAY.
I AM SUSIE WINGATE FROM
SAN DIEGO, CALIFORNIA.
I AM A FORMER SPECIAL EDUCATION
TEACHER OF 16 YEARS AND NOW
RUNNING MY OWN PROGRAM
SUPPORTING INDIVIDUALS WITH
DISABILITIES.
I AM A WIFE TO MY HUSBAND ERIC
AND THE PROUD MOM OF OUR
BEAUTIFUL SON HUDSON.
HUDSON WAS BORN ON
DECEMBER 22ND, 2018.
IT WAS A FULL TERM PREGNANCY.
I HAD A NATURAL BIRTH WITH NO
COMPLI
COMPLICATIONS.
HUDSON PASSED ALL OF HIS NEWBORN
SCREENING TESTS, HE HAD ALL OF
HIS VACCINES, HIS HEIGHT AND
WEIGHT WERE IN THE AVERAGE
PERCENTILE RANGE AND HE WAS
HITTING ALL OF HIS MILESTONES ON
TIME, AND SOME EVEN BEFORE
EXPECTED.
HIS FIRST YEAR OF LIFE WAS
PERFECT.
AT 13 MONTHS OLD, HUDSON STARTED
HAVING DIFFICULTIES BREATHING.
I TOOK HIM TO THE PEDIATRICIAN,
WHO REFERRED US TO THE ENT, WHO
HAD A PRIVATE PRACTICE.
THE ENT SCOPED AND HUDSON WAS
DIAGNOSED WITH VOCAL CORD
PARALYSIS.
WHAT WE DIDN'T KNOW WAS THE
CAUSE OF THIS.
SO WE WERE ADMITTED THE VERY
NEXT DAY INTO CHILDREN'S
HOSPITAL.
HUDSON RECEIVED A MISDIAGNOSIS
OF MYASTHENIA GRAVIS AT THE
TIME, AND HE DID TWO ROUNDS OF
IVIG.
DURING HIS TIME, HUDSON LOST HIS
ABILITY TO BREATHE ON HIS OWN,
SWALLOW, WALK, TALK, PULL
HIMSELF UP, AND HAD DRAMATIC
WEIGHT LOSS.
HE WENT FROM 12 MONTH CLOTHING
DOWN TO 6 MONTH CLOTHING
RAPIDLY.
AFTER TWO ROUNDS OF IVIG, WE
WERE TOLD THAT THERE WAS NOTHING
MORE THAT COULD BE DONE, AND WE
NEEDED TO LET THE MEDICINE TAKE
ITS COURSE, AND WE WERE
DISCHARGED FROM THE HOSPITAL.
BUT IMMEDIATELY SENT BACK THE
SAME DAY BY HUDSON'S OUTSIDE
ENT.
ONE WEEK LATER, HE HAD A
BREATHING TUBE WHICH IS CALLED A
TRACH INSERTED BECAUSE HE WAS
UNABLE TO BREATHE ON HIS OWN.
WE KNEW THAT WE DID NOT HAVE THE
CORRECT DIAGNOSIS AND WE STARTED
PUSHING FOR WHOLE GENOME
SEQUENCING TO BE DONE.
ON MARCH 2ND, 2020, THE BLOOD
WAS DRAWN, AND 48 HOURS LATER WE
RECEIVED THE RESULTS OF
RIBOFLAVIN TRANSPORTER
DEFICIENCY ALSO KNOWN AS RTD.
THE NEW TREATMENT PLAN STARTED
IMMEDIATELY AND WE NOTICED
DRAMATIC IMPROVEMENTS RIGHT
AWAY.
HOWEVER, HUDSON WAS STILL HAVING
DIFFICULTY SWALLOWING, SO WE
MADE THE DECISION FOR HIM TO
HAVE SURGERY TO GET A FEEDING
TUBE FOR HIS NUTRITION AS WELL
AS HIS MEDICATION.
HUDSON WAS DISCHARGED ON
MARCH 25TH, 2020.
SINCE DISCHARGE, HUDSON HAS HAD
THREE E.R. VISITS, FOUR MORE
SURGERIES AND TWO MORE
DIAGNOSES.
AT THIS TIME, OUR NEXT STEPS ARE
UNKNOWN.
HOWEVER, WE KNOW THAT HE WILL
HAVE MORE SCANS AND MORE
SURGERIES.
IN FACT, RIGHT NOW, HE IS AT THE
HOSPITAL WITH MY HUSBAND, HAVING
A CHEST SCAN AND A SCAN OF HIS
DIAPHRAGM.
WHEN I PUT THIS TIMELINE
TOGETHER, IT REALLY HIT ME HARD
BECAUSE I WAS LIKE, WOW, ALL OF
THIS HAPPENED SO FAST, BUT IT
LITERALLY FELT LIKE ETERNITY AS
WE WERE WATCHING OUR SON SUFFER
IN FRONT OF OUR EYES.
SO THE EMOTIONAL AND FINANCIAL
IMPACT THAT THIS HAD ON OUR
FAMILY, WE HAVE BEEN IN COMPLETE
SURVIVAL MODE.
SOME DAYS I STILL FEEL LIKE WE
ARE IN IT.
WE HAD A LOT OF UNANSWERED
QUESTIONS, ESPECIALLY THE FIRST
MONTH WITH THE MISDIAGNOSIS.
WE WERE WATCHING OUR SON, LIKE I
SAID BEFORE, RAPIDLY DECLINE IN
FRONT OF OUR EYES.
THE UNKNOWN CAUSED SO MUCH
TRAUMA AND STRESS TO ALL OF US.
IT WAS A ROLLER COASTER RIDE OF
EMOTIONS DUE TO THE
UNCERTAINTIES, WHICH WERE VERY
UNSETTLING.
I HAD TO TAKE A LEAVE OF ABSENCE
FROM TEACHING TO CARE FOR HUDSON
FULL TIME, AND MY HUSBAND
CONTINUED HIS JOB TO ENSURE ONE
INCOME.
HOURS UPON HOURS WERE SPENT
TALKING WITH INSURANCE
COMPANIES, DOCTORS, SPECIALISTS,
VENDORS, STATE AGENCIES AND
PROGRAMS AND I KNEW I NEEDED TO
REST BUT I ALSO KNEW THAT OUR
LIFE WAS FLIPPED UPSIDE-DOWN AND
I HAD TO DO WHAT IT TOOK.
IN-HOME NURSING CARE WAS HARD TO
GET DUE TO COVID, AND THE LACK
OF NURSES TRAINED TO CARE FOR
PATIENT WITH TRACHS.
OUR SUPPORT WAS AND CONTINUES TO
BE LIMITED, SINCE WE DO NOT HAVE
FAMILY THAT LIVES NEARBY AND
ALSO WITH STILL THE SHORTAGE OF
IN-HOME NURSING CARE.
THE DIAGNOSIS.
WELL, IT WAS RELIEVING.
IT FINALLY GAVE US OUR ANSWER.
THE ANSWER GAVE US SO MUCH HOPE.
WE WERE ABLE TO FINALLY CONNECT
WITH OTHER FAMILIES DEALING WITH
RTD THROUGH THE CURE RTD
FOUNDATION.
IT HELPED US TREMENDOUSLY.
WE COULD FINALLY REST KNOWING
THAT OUR SON WAS GOING TO LIVE.
GENOME SEQUENCING -- I
APOLOGIZE.
THERE IS PARTS OF HUDSON'S STORY
THAT CHOKE ME UP STILL.
BUT GENOME SEQUENCING AT
CHILDREN'S HOSPITAL SAVED OUR
SON'S LIFE.
HIS TREATMENT PLAN WAS CHANGED
AND WE NOTICED MEDIAL
IMPROVEMENT.
RTD IS AN ULTRA-RARE DISEASE
THAT IS SIGNIFICANTLY
UNDERDIAGNOSED AND/OR
MISDIAGNOSED.
THE TREATMENT IS AFFORDABLE AND
READILY AVAILABLE, HOWEVER, IT
HAS BEEN A CHALLENGE GETTING IT
COVERED BY INSURANCE, SINCE ALL
OF HIS MEDICATIONS ARE VITAMIN
SUPPLEMENTS.
COMPARISON AND THE FUTURE FOR
HUDSON.
WE ARE LUCKY TO BE IN THE RIGHT
PLACE AT THE RIGHT TIME.
MANY PEOPLE HAVE MENTIONED
EARLIER THAT HEALTHCARE AT
CERTAIN HOSPITALS ARE DIFFERENT
THAN OTHERS.
AND DIFFERENT AREAS ACROSS THE
COUNTRY AND SO THIS MADE A HUGE
DIFFERENCE BEING HERE WITH RADY
CHIRP'S HOSPITAL WITH THE
GENOMIC INSTITUTE RIGHT THERE,
READILY AVAILABLE.
AS WELL AS MY HUSBAND'S
INSURANCE PLAN AT THE TIME,
WHICH WAS PHENOMENAL.
WE HAD A SUPER PROACTIVE TEAM,
AND THE EARLY DIAGNOSIS REALLY
HELPED HUDSON'S PROGRESS.
WE WERE ULTRA AGGRESSIVE WITH
THE TREATMENT FROM THE START
ONCE HE WAS DIAGNOSED.
HUDSON WAS ONE OF THE QUICKEST
TO BE DIAGNOSED AND TREATED
AMONGST OTHERS IN THE RTD
COMMUNITY.
HUDSON HAS A SEVERE MUTATION OF
THE GENE, AND WE HAVE TO BE
DILIGENT WITH EVERY LITTLE SIGN
OR SYMPTOM WE NOTICE EACH AND
EVERY DAY.
THINGS CAN REMAIN STABLE FOR
HUDSON WHILE OTHER AREAS CAN
DECLINE.
WE JUST NEVER KNOW WHAT OR WHEN.
THE FUTURE IS UNKNOWN FOR HIM,
AND OTHERS IN THE RTD COMMUNITY,
BUT THERE'S CONTINUED RESEARCH
BEING DONE WITH HOPES TO FIND A
CURE.
THE BIGGEST POINT I WOULD LIKE
EVERYONE TO KNOW AND TAKE AWAY
FROM THIS IS EARLY INTERVENTION
AND DIAGNOSIS IS THE NUMBER ONE
WAY TO SAVE LIVES.
AND ALSO PREVENT IN MOST CASES
SEVERE SYMPTOMS FROM OCCURRING.
GENOME SEQUENCING DID THAT FOR
OUR SON, AND IT NEEDS TO BE THE
FIRST TOOL USED AND OFFERED TO
FAMILIES.
THANK YOU VERY MUCH FOR HAVING
ME HERE TODAY.
IT HAS BEEN A PRIVILEGE TO SHARE
HUDSON'S STORY.
I NOW HAVE THE HONOR TO
INTRODUCE DR. STEPHEN KINGSMORE,
BUT BEFORE I FORGET TO INTRODUCE
HIM, THERE ARE A COUPLE MORE
SLIDES OF PICTURES OF HUDSON, IF
YOU DON'T MIND GOING TO THE NEXT
SLIDE OR TWO, JUST TO SEE WHERE
HE WAS AND WHERE HE IS TODAY.
IT'S HARD TO CHOOSE PICTURES OF
HIM BECAUSE HE'S JUST SO DARN
CUTE.
BUT DR. STEPHEN KINGSMORE IS THE
PRESIDENT AND CEO OF RADY'S
GENOMIC INSTITUTE, AND BECAUSE
OF HIM AND HIS TEAM, OUR SON'S
LIFE WAS SAVED.
THANK YOU VERY MUCH,
DR. KINGSMORE.
>> THANK YOU, SUSIE.
WHAT A FANTASTIC STORY.
THANK YOU SO MUCH FOR SHARING
THAT WITH US.
IT'S BEEN POSSIBLE NOW TO DECODE
A HUMAN GENOME AND MAKE A
DIAGNOSIS IN THREE DAYS FOR 10
YEARS.
DID YOU KNOW THAT DESPITE THIS,
THE AVERAGE FAMILY TODAY HAS TO
WAIT 4.8 YEARS FOR A GENETIC
DISEASE DIAGNOSIS.
BECAUSE OF STORIES LIKE THAT
WHICH SUSIE JUST SHARED WITH US,
THE CALIFORNIA LEGISLATURE ASKED
OUR INSTITUTE TO EXAMINE WHETHER
HUDSON'S STORY COULD BE
GENERALIZED, COULD THIS BE
IMPLEMENTED ACROSS THE STATE.
AND SO WE EXAMINED RAPID
DIAGNOSTIC GENOME SEQUENCING IN
184 BABIES IN INTENSIVE CARE
UNITS.
ALL OF THE BABIES WERE MEDICAID
BENEFICIARIES.
WE FOUND THREE THINGS IN PROJECT
BABY BEAR.
FIRST OF ALL, WE COULD REDUCE
THE AVERAGE DIAGNOSTIC ODYSSEY
FROM 4.8 YEARS TO THREE DAYS.
SECOND OF ALL, THE NET COST OF
DOING THIS IN 184 BABIES WAS
NEGATIVE $2.5 MILLION FOR
MEDICAID.
AND THIRDLY, BABIES SPENT LESS
TIME IN HOSPITAL AND AVOIDED
UNNECESSARY SURGERIES.
OVERALL, THEIR CARE WAS BETTER.
43% OF BABIES RECEIVED A
DIAGNOSIS, AND MANAGEMENT WAS
MORE TARGETED AND MORE EFFECTIVE
IN 31%.
WE DIDN'T STOP THERE.
WE WENT ON TO LOOK AT A LARGER
GROUP OF BABIES, ALSO MEDICAID
BENEFICIARIES, AND FOR A LONGER
PERIOD OF FOLLOW-UP, FIVE YEARS.
WHAT WE FOUND WAS THAT THE
BENEFITS DON'T JUST STOP WITH
THAT FIRST HOSPITALIZATION.
IN FACT, WE FOUND ALMOST 100
ADDITIONAL QUALITY ADJUSTED LIFE
YEARS WAS ADDED TO THOSE 325
BABIES.
AND 64% OF THE ONGOING COSTS OF
CARE WERE ELIMINATED AS A RESULT
OF RAPID DIAGNOSTIC WHOLE GENOME
SEQUENCING.
THERE ARE NOW 31 PUBLISHED
STUDIES THAT SHOW THAT THIS IS
GENERALIZABLE.
RAPID GENOMIC SEQUENCING FOR
DIAGNOSIS OF A GENETIC DISEASE,
ON AVERAGE, YIELDED A DIAGNOSIS
IN OVER A THIRD OF BABIES
TESTED, AND THIS IS AN
UNPRECEDENTED NUMBER, IMPROVED
OUTCOMES IN FULLY 18%.
THIS IS THE EXCITING SLIDE.
AS A RESULT OF THIS EVIDENCE,
ANTHEM BLUE CROSS/BLUE SHIELD
BECAME THE FIRST MAJOR PAYOR
NATIONWIDE TO HAVE A POLICY, A
COVERAGE POLICY FOR RAPID
DIAGNOSTIC GENOMIC SEQUENCING,
AND TO REIMBURSE THE COST OF
CARE.
THE OUT OF POCKET COST FOR
PARENTS.
THAT'S NOW BEEN RATIFIED ACROSS
11 BLUES PLANS.
AND THEN STARTING ABOUT A YEAR
AGO, WE NOW HAVE SIX STATES WHO
HAVE MEDICAID POLICIES TO
PROVIDE THE SAME COVERAGE TO
INFANTS AND CHILDREN IN
INTENSIVE CARE UNITS, AND WE
HAVE THREE STATES WHO ARE
COVERING THE OUT OF POCKET TESTS
FOR PARENTS.
THIS IS HUGELY EXCITING
PROGRESS.
I'D NOW LIKE TO INTRODUCE
DR. BRUCE KORF.
HE'S THE CHIEF GENOMICS OFFICER
AT THE UNIVERSITY OF ALABAMA IN
BIRMINGHAM SCHOOL OF MEDICINE,
AND CO-DIRECTOR OF THE UAB
HUDSON ALPHA CENTER FOR GENOMIC
MEDICINE.
>> GREAT, STEPHEN, THANK YOU.
I'M GOING TO SHARE MY SCREEN.
I'M GOING TO AMPLIFY MANY OF THE
POINTS THAT YOU'VE ALREADY
HEARD, AND LET ME START WITH
REITERATING THE VALUE OF A
GENETIC DIAGNOSIS.
AND I REALLY CAN'T BEAT THE
STORY THAT SUSIE TOLD IN TERMS
OF FIRST OF ALL AVOIDING
UNNECESSARY TESTING THAT WILL BE
UNPRODUCTIVE, PROVIDING GUIDANCE
FOR SURVEILLANCE AND MANAGEMENT
OF A PERSON'S CONDITION.
IN SOME CASES, AS YOU'VE ALREADY
HEARD, TARGETED TREATMENT, AND
THE ABILITY ALSO TO PROVIDE
GENETIC COUNSELING TO FAMILIES.
AND AS YOU HEARD EARLIER,
THERE'S ALSO A CONCEPT OF
PERSONAL UTILITY TO ANTICIPATE
THE FUTURE NEEDS OF AN
INDIVIDUAL WITH A GENETIC
CONDITION, TO INFORM FAMILY
PLANNING, IN MANY CASES TO
ASSUAGE GUILT BECAUSE YOU NOW
KNOW WHAT ACTUALLY HAPPENED, NOT
SOME OF THE THINGS THAT YOU
FEARED MIGHT HAVE HAPPENED.
AND THERE IS, I THINK, A PEACE
OF MIND FROM KNOWING, EVEN IF
IT'S NOT CURRENTLY POSSIBLE
ALWAYS TO TREAT A CONDITION.
SO I'LL MAKE THREE SPECIFIC
POINTS.
THE FIRST IS THAT GENOME
SEQUENCING CAN SAVE MONEY IN
ENDING THE DIAGNOSTIC ODYSSEY, A
POINT THAT STEPHEN ALSO JUST
MADE.
THIS IS A PEAB BABY WE SAW IN THE
NEWBORN NURSERY AT UAB AS PART
OF OUR SOUTHSEQ PROJECT, PART OF
THE CLINICAL SEQUENCING EVIDENCE
GENERATING RESEARCH CONSORTIUM
TERI SPOKE ABOUT EARLIER.
THIS CHILD HAD MULTIPLE MEDICAL
PROBLEMS.
YOU CAN SEE THE TRACH YOS TRACH YOS TRACH EOSTOMY,
PROBLEMS BREATHING AND UNSTABLE
HEART RATE.
HAD MULTIPLE GENETIC TESTS NOT
TO MENTION OTHER TESTS LIKE MRI
SCANS, FOR EXAMPLE, NO DIAGNOSIS
ESTABLISHED, THOUSANDS OF
DOLLARS THAT WERE REALLY
UNPRODUCTIVE.
AND THEN HAD GENOME SEQUENCING,
AND IT REVEALED THE UNDERLYING
DIAGNOSIS, WHICH IS GENETICALLY
DETERMINED CONGENITAL PROBLEM IN
THE FORMATION OF NERVES THAT
CAUSES VERY SEVERE MUSCLE
WEAKNESS AND RESPIRATORY
PROBLEMS, AMONG OTHER PROBLEMS,
AND UNFORTUNATELY, NOT CURRENTLY
AMENABLE TO TREATMENT, BUT WITH
A 25% RISK OF RECURRENCE IN
FUTURE REG PREGNANCIES, A CRITICALLY
IMPORTANT POINT FOR THE FAMILY
TO UNDERSTAND.
I WOULD DARE SAY THAT THE COST
OF ONE MRI SCAN, WHICH WAS PART
OF THE UNPRODUCTIVE WORKUP,
EXCEEDED THE COST OF THE GENOME
SEQUENCING.
THE SECOND POINT WHICH YOU'VE
ALSO HEARD FROM SUSIE IS THAT
GENOME SEQUENCING CAN CHANGE
TREATMENT.
THIS IS A SHOT OF PART OF THE
SKIN OF A WOMAN WHO HAD THIS
DISFIGURING SKIN DISORDER THAT
BEGAN IN CHILDHOOD, SO SHE HAD
BEEN LIVING WITH THIS FOR
DECADES, HAD MULTIPLE TESTS DONE
TO TRY TO ESTABLISH AN
UNDERLYING DIAGNOSIS WITH NO
ANSWERS.
WAS ENROLLED IN THE UAB
UNDIAGNOSED DISEASES PROGRAM,
HAD GENOME SEQUENCING, IT
REVEALED A VARIANT IN THE EGF
RECEPTOR, A PROTEIN THAT IS
INVOLVED IN CELL SIGNALING.
AND IT TURNED OUT THAT THERE ARE
ALREADY DRUGS THAT EXIST THAT
INHIBIT THIS RECEPTOR, AND WE
WERE ABLE TO COMPOUND ONE OF
THESE DRUGS AS A TOPICAL
TREATMENT, AND THE CONTROL WAS
LESS SEVERELY PART OF HER RIGHT
ARM NEAR THE ELBOW, AND THE TEST
WAS ON THE LEFT.
AND I THINK YOU CAN SEE THERE
WAS A SIGNIFICANT DIFFERENCE
THAT WE WERE ABLE TO ACTUALLY
EFFECT A TREATMENT THAT WE WOULD
NOT IN A MILLION YEARS HAVE
THOUGHT OF IF IT WEREN'T FOR THE
GENOME SEQUENCING.
THEN THE THIRD POINT IS THAT
GENOME SEQUENCING IN THE CLINIC
OFTEN RESULTS IN DISCOVERY OF
NEW GENETIC DISORDERS THAT
WEREN'T PREVIOUSLY KNOWN TO
EXIST.
SO THIS IS A CHILD ALSO SEEN IN
THE UAB UNDIAGNOSED DISEASES
PROGRAM WITH SEVERE INTELLECTUAL
DISABILITY, ALSO WAS ON A
DIAGNOSTIC ODYSSEY, IN FACT, WE
FIRST SAW HIM IN ABOUT 2013, AND
WE WEREN'T ABLE TO MAKE A
DIAGNOSIS AND CERTAINLY DID LOTS
OF THINGS TO TRY TRY.
UMENT IT REVEALED A VARIANT IN A GENE
CALLED AG01 THAT HAD NEVER BEEN
SEEN BEFORE, NOBODY HAD EVER
REPORTED A VARIANT IN THIS GENE
CAUSING ANY PARTICULAR MEDICAL
PROBLEM.
WE PUT THE INFORMATION INTO A
DATABASE CALLED GENE MATCHER,
WHERE PEOPLE PUT GENETIC
INFORMATION THAT CAN BE SEEN BY
OTHER RESEARCHERS AND CLINICIANS
AROUND THE WORLD, AND IF
SOMEBODY ELSE SOMEWHERE ELSE HAS
A PATIENT WITH A SIMILAR KIND OF
GENETIC VARIANT OR VARIANT IN
THE SAME GENE, IT LINKS YOU
TOGETHER BY EMAIL AND YOU CAN
COMPARE NOTES.
THE OUTCOME WAS THERE WERE OVER
20 INDIVIDUALS WITH
AG01 PATHOGENIC VARIANTS, OUR
PATIENT IS SHOWN HERE AS CASE
NUMBER 21.
THIS IS A PUBLISHED CASE NOW
ESTABLISHING A NEW GENETIC
CONDITION THAT WAS PREVIOUSLY
NOT KNOWN TO EXIST.
MAY ASK HOW OFTEN DOES
SEQUENCING RESULT IN DIAGNOSIS?
WE HAVE A COLLABORATION WITH
HUDSON ALPHA INSTITUTE FOR
BIOTECHNOLOGY IN HUNTSVILLE
WHERE THE SEQUENCING IS DONE.
SO 22% WOULD GET A DIAGNOSIS OF
A PATHOGENIC OR LIKELY
PATHOGENIC VARIANT IN THIS
RESEARCH PROGRAM, AND
SUBSTANTIAL NUMBER HAD VARIANTS
OF UNKNOWN SIGNIFICANCE THAT ARE
STILL UNDER STUDIED AND ARE
POSSIBLE CANDIDATE.
YOU'LL SEE ESTIMATES OF THE
LIKELIHOOD OF A DIAGNOSIS, I'D
SAY, FOR ABOUT 25 TO OVER 50%,
MUCH DEPENDS ON THE INDICATIONS
FOR TESTING IN THE FIRST PLACE.
BUT REMEMBER, EVERYBODY ENROLLED
IN THIS HAD ALREADY BEEN THROUGH
A DIAGNOSTIC ODYSSEY, HAVING
UNPRODUCTIVE TESTS.
SO THE FACT THAT YOU COULD MAKE
A DIAGNOSIS BY SEQUENCING IN 25
OR MORE%, THESE ARE 25% OF
PEOPLE WHOM OTHERWISE WOULD
NEVER HAVE HAD A DIAGNOSIS.
SO TON TO CONCLUDE, GENOME
SEQUENCING I WOULD SAY NOW IS AN
ESSENTIAL COMPONENT OF CLINICAL
CARE, IT IS NOT A RESEARCH TEST
ANYMORE THAT CAN REDUCE THE COST
OF EVALUATION, IT CAN RESULT IN
CHANGES OF MANAGEMENT, INFORM
FAMILY PLANNING, EXPAND OUR
UNDERSTANDING OF THE CAUSES OF
GENETIC CONDITIONS, AND FINALLY
OPEN THE DOOR TO TREATMENT.
AND WITH THAT, I WILL TURN IT
BACK TO CHESTER, OUR MODERATOR.
>> ALL RIGHT, AND I WOULD INVITE
ALL THE PANELISTS NOW TO MAKE
THEMSELVES VISIBLE FOR THE PANEL
DISCUSSION.
WE HAVE A TOTAL OF SEVEN
QUESTIONS THAT WE'VE BEEN ASKED
TO ADDRESS.
AND I'LL BE GOING THROUGH THOSE
QUESTIONS.
KEEP IN MIND, PLEASE, WE'RE
TRYING TO STAY ON SCHEDULE AND
SO I'VE ALREADY DONE THE MATH.
IT'S AN AVERAGE OF ABOUT 3 1/2
MINUTES PER QUESTION, SO I DON'T
WANT TO TAKE ANY MORE TIME FROM
THE EXPLANATION, AND PLEASE, THE
QUESTIONS ARE DIRECTED TO
SPECIFIC PANELISTS IN SOME
CASES, AND SOME ARE FROM THE
AUDIENCE, ACTUALLY.
SO FOR TERI, STEPHEN AND BRUCE,
WHILE IT'S EXCITING TO HEAR
ABOUT THE HIGH DIAGNOSTIC RATES
FOR PATIENTS WHO HAVE HAD ACCESS
TO SEQUENCING, NOT EVERYONE GETS
A DIAGNOSIS AS WE KNOW.
SO WHAT OPTIONS ARE THERE FOR
PATIENTS IN THIS SITUATION?
SO TERI, STEPHEN, BRUCE, I DON'T
KNOW WHO WOULD LIKE TO TAKE THAT
ON.
>> I'LL START BY TURNING IT OVER
TO STEPHEN AND BRUCE.
WHO HAVE DONE MUCH MORE WORK IN
THIS.
BUT RECOGNIZING THAT AS GENOMIC
INFORMATION INCREASES AND
EVOLVES, PEOPLE DO GET ANSWERS
SOMETIMES A LITTLE BIT DOWN THE
ROAD BUT THERE ARE OTHER
FORECAST
TECHNOLOGIES AS WELL.
STEPHEN, DO YOU WANT TO COMMENT?
>> THANK YOU, TERI.
I'LL MAKE ONE REALLY QUICK
POINT.
WHICH IS VERY IMPORTANT.
IN THE NIH FUNDED NSIGHT STUDY,
WE FOUND THAT ALMOST EVERY
PARENT AND PEDIATRICIAN TOLD US
THEY FELT THAT GENOME SEQUENCING
WAS BENEFICIAL FOR THAT CHILD.
FOR EXAMPLE, A NEGATIVE GENOME
SEQUENCING TEST CAN EFFECTIVELY
RULE OUT GENETIC DISEASES THAT
PHYSICIANS ARE WORRIED ABOUT,
AND ALLOW THEM TO REFOCUS ON
NON-GENETIC COSTS OF DISEASE.
>> THE ONE ADDITIONAL POINT I
WOULD MAKE IS THAT WHEN WE REACH
A POINT WHERE SEQUENCING AND
ANYTHING ELSE WE MIGHT HAVE
OFFERED DOESN'T PROVIDE A
DIAGNOSIS, THAT DOESN'T END OUR
RELATIONSHIP WITH THE PATIENT.
WE RECOMMEND THAT THEY BE SEEN
ON A REGULAR BASIS PRACTICALLY,
DEPENDING ON WHAT'S GOING ON.
THAT MEANS ABOUT ONCE A YEAR.
AND I'LL TELL YOU THAT THERE ARE
MANY INSTANCES, AND IN FACT, THE
TRIAL WITH THAT AG01 VARIANT WAS
ONE OF THEM, WHERE THE FIRST
TIME AROUND WE DID NOT COME UP
WITH AN ANSWER, BUT THEN ON
RE-ANALYSIS AND WATCHING THINGS
EVOLVE A BIT WITH THE CHILD, AN
ANSWER EMERGED.
SO IT REQUIRES A LONG TERM
RELATIONSHIP WITH THE FAMILY,
NOT TO GIVE UP AFTER A FIRST TRY
IF YOU DON'T GET AN ANSWER.
>> I AGREE, WE HAD SEVERAL
EXAMPLES TO THAT IN OUR PRACTICE
AS WELL, BRUCE, A RE-LOOK, A
SECOND LOOK AT THE DATASET OFTEN
DO PROVIDE AN ANSWER.
ALL RIGHT.
THANKS.
SECOND QUESTION, THIS ONE FROM FOR
STEEIVE AND BRUCE.
WE'VE HEARD ABOUT THE CLINICAL
IMPACT THAT SEQUENCING CAN HAVE,
AND I KNOW THERE ARE NEW STUDIES
COMING OUT LOOKING AT THE
COST-EFFECTIVENESS OF SEQUENCING
AS WELL.
CAN YOU SUMMARIZE WHAT THE
FINDINGS ARE LOOKING LIKE FOR
THE COST-EFFECTIVENESS FOR
SEQUENCING?
I THINK, STEPHEN, YOU WERE
ADDRESSING THAT IN YOUR TALK, SO
IF YOU'D LIKE TO EXPAND THAT,
THAT WOULD BE GREAT.
>> SURE, THANK YOU, CHESTER.
AGAIN BRUCE, FORGIVE ME, I'LL GO
FIRST.
I WENT THROUGH A LOT OF DATA
FAST.
BUT THOSE SLIDES ARE AVAILABLE,
TAKE A LOOK AT THEM.
THERE'S NOW STRONG EVIDENCE THAT
THIS IS CLINICALLY EFFECTIVE AND
COST-EFFECTIVE.
AND JUST TO SUMMARIZE ONE OF THE
SLIDES, WHAT WE FOUND IS FOR
CHILDREN IN INTENSIVE CARE
UNITS, RAPID DIAGNOSTIC GINO
NICK MID-ATLANTIC GENOMIC
SEQUENCING SAVES MEDICAID
$11,000 PER TEST.
THAT IS REMARKABLE.
NOW, WE DON'T KNOW THE ANSWER
YET IN BROADER SETTINGS.
WE DON'T KNOW ABOUT OUTPATIENT
ECONOMICS, OR GENERAL PEDIATRIC
FLOOR PATIENTS, OR EMERGENCY
DEPARTMENT.
SO WE NEED MORE STUDIES.
AND WE ALSO -- THESE NEW
POLICIES I MENTIONED, MEDICAID
POLICIES, ARE BRAND NEW, SO WE
NEED TO COLLECT THAT EVIDENCE.
WE NEED TO COLLECT THAT DATA AND
SEE WHAT THE REAL WORLD PICTURE
IS FOR OUR SOCIETY.
>> ALL I CAN ADD IS THAT THIS IS
ALL A MOVING TARGET.
THE COST OF SEQUENCING HAS
CONTINUED TO COME DOWN, AND IT
CLEAR TO ME THAT FOR ALMOST
EVERY PATIENT WE'VE DIAGNOSED,
IF THEY HAD SEQUENCING AS THE
FIRST TEST INSTEAD OF THE LAST
TEST, IT WOULD HAVE BEEN
THOUSANDS OF DOLLARS SAVED.
>> ALL RIGHT.
WE'LL MOVE ON TO OUR THIRD
QUESTION FOR THE ENTIRE PANEL.
DO YOU HAVE CONCERNS ABOUT
EQUITY OF ACCESS TO SEQUENCING,
AND WHAT SHOULD WE BE DOING TO
KNOCK DOWN THOSE BARRIERS?
SPECIFICALLY FOR SUSIE, ARE YOU
HEARING ABOUT THIS CHALLENGE IN
THE RARE DISORDERS NETWORK THAT
YOU'RE A PART OF OR THE BROADER
RARE DISEASE COMMUNITY?
>> SO FOR ME, I KNOW THAT WE HAD
TO PUSH VERY HARD FOR WHOLE
GENOME SEQUENCING, EVEN WITH IT
BEING RIGHT AT THE HOSPITAL.
SO I CAN ONLY IMAGINE, AND I
LIVE IN MY LITTLE BUBBLE HERE IN
SAN DIEGO, AND BEING MORE
INVOLVED NOW, I'M LEARNING MORE
ABOUT OTHER PARTS OF THE COUNTRY
AND THE WORLD, AND YEAH, I AM
CONCERNED, BECAUSE KNOWING THAT
THIS WAS A COUPLE FLOORS DOWN IN
THE HOSPITAL WHERE WE COULD HAVE
HAD THAT TOOL MAYBE A MONTH
EARLIER USED ON OUR SON, I STILL
QUESTION, WOULD HE HAVE A TRACH
TODAY, WOULD HE HAVE A G-TUBE,
WOULD HE HAVE COCHLEAR IMPLANTS,
COULD WE HAVE PREVENTED SOME OF
THESE THINGS.
SO YES, IT IS CONCERNING FOR
OTHER PARTS OF THE COUNTRY TOO.
>> TERI, PERHAPS YOU COULD
COMMENT ON THE NIH'S VIEW ON
THIS AND HOW THEY'RE THINKING
ABOUT ADDRESSING THE DISPARITIES
ISSUE.
>> WE'RE EXTREMELY CONCERNED AND
WE SEE A HUGE MOUNTAIN TO BE
CLIMBED.
ON THAT GRAPH I SHOWED YOU IN
TERMS OF DATA THAT ARE
AVAILABLE.
BUT IT ISN'T JUST DATA, IT'S
UNDERSTANDING AND ACCEPTANCE,
ISSUES OF TRUST WITH THE MEDICAL
CARE SYSTEM, THE NEED TO COLLECT
GENOMIC DATA, WHICH HAVE BEEN
USED IN OTHER AND SOMETIMES NE
NEFARIOUS WAYS.
THESE ARE ALL ASPECTS THAT WE
TRY TO ADDRESS THROUGH NOT ONLY
OUR RESEARCH BUT ALSO IN PUBLIC
MESSAGING AND WORKING WITH OTHER
GOVERNMENT AGENCIES.
>> SO BRUCE -- GO AHEAD.
>> LET'S JUST REMEMBER THAT 45
STATES DON'T HAVE A COVERAGE
POLICY, WHICH MEANS THAT YOU'RE
NOT GOING TO GET THIS TEST IN
THOSE STATES.
AND FURTHERMORE, SOME PATIENTS
WHO HAVE PRIVATE INSURANCE ARE
DISADVANTAGED.
THEY'D BE BETTER OFF ON
MEDICAID.
>> OKAY.
LET'S MOVE TO THE NEXT, AGAIN,
THIS FOR THE ENTIRE PANEL.
WE'VE HEARD ABOUT THE BENEFITS
THAT A DIAGNOSIS CAN BRING TO
THE INDIVIDUAL PATIENT.
BUT WE ALSO KNOW THERE CAN BE
BENEFIT TO FAMILY MEMBERS OR
OTHERS IN THE COMMUNITY.
CAN YOU TALK ABOUT THE RIPPLE
EFFECT OF GETTING A DIAGNOSIS?
I GUESS I CAN LEAVE THAT OPEN TO
JUST ABOUT ANYONE.
>> I CAN START.
I'M SURE EVERYBODY CAN ADD TO
THIS.
SO I MENTIONED THE ALABAMA
GENOMIC HEALTH -- JUST TO COME
BACK TO THE PREVIOUS QUESTION
FOR A SECOND, WE HAVE A
COMMUNITY ADVISORY BOARD AS PART
OF THE STATE FUNDED PROJECT, AND
PART OF WHAT WE'RE DOING IS
GOING OUT INTO THE COMMUNITY TO
LEARN WHAT ARE THE CONCERNS AND
WHAT ARE THE SENSITIVITIES THAT
WE NEED TO BE ALERT TO AS WE
INTEGRATE GENOMICS, WHICH WE'RE
DOING INTO FAMILY MEDICINE?
ONE OF THE THINGS WE'RE DOING IS
IDENTIFYING INDIVIDUALS AT RISK
FOR A VARIETY OF DISORDERS,
CANCER, CARDIOVASCULAR DISEASE,
TO NAME A COUPLE, AND WHAT WE'RE
FINDING IS THAT SOMETIMES IT
COMPLETE NEWS TO THEM THAT THEY
WERE AT RISK.
SOMETIMES THEY WERE QUITE AWARE
THAT THEY HAD SOMETHING, BUT
OFTEN THEY HAD NO IDEA THAT IT
WAS SOMETHING THAT COULD AFFECT
OTHER MEMBERS OF THE FAMILY, AND
WHAT WE'RE NOW OFFERING IS
GENETIC COUNSELING TO THESE
INDIVIDUALS WITH THE ABILITY TO
HELP THEM TO NOTIFY OTHER FAMILY
MEMBERS OF RISK THEY MIGHT HAVE
OTHERWISE BEEN COMPLETELY
OBLIVIOUS TO.
THESE ARE ALL THINGS WHERE THERE
IS A TREATMENT AVAILABLE TO
PREVENT SEVERE OUTCOMES IF A
DIAGNOSIS IS MADE EARLY ON.
SO IT CAN MAKE A HUGE DIFFERENCE
TO A FAMILY.
>> ANY COMMENTS ABOUT RADY AND
KIND OF THEIR GENERAL APPROACH
TO SUCH THINGS?
>> I TOTALLY AGREE WITH BRUCE,
THIS IS FAMILY IMPACT.
AS PEDIATRICIANS, WE TREAT
FAMILIES AND NOT PATIENTS, SO IT
HAS RIPPLE EFFECTS THROUGHOUT
THE FAMILY AND SO OFTEN WE HEAR
STORIES OF, WELL, THAT EXPLAINS
SO MUCH, NOW I UNDERSTAND WHAT
WAS GOING ON WITH GRANNY.
SO THIS IS HUGELY IMPORTANT.
AND THE OTHER WONDERFUL THING IS
THAT ONCE WE HAVE A GENOME
SEQUENCE, WE HAVE SOMETHING WE
CAN GO BACK TO.
AS SUSIE MENTIONED, HER LITTLE
SON HAS HAD TWO DIAGNOSES SINCE
HE HAS ONGOING ISSUES.
WE CAN RE-LOOK AT THE GENOME AND
SEE IS THERE ANYTHING ELSE
THERE.
THAT'S GOING TO BE VERY POWERFUL
IN THE YEARS TO COME.
>> AND IF I CAN JUST ADD IN KIND
OF GENERAL STANDARD CLINICAL
GENETICS PRACTICE, IF WE KNOW
THAT THERE'S A RISK TO THE
EXTENDED FAMILY, WE'LL TYPICALLY
OFFER TO THE FAMILIES WE'RE
WORKING WITH THE OPPORTUNITY OR
OFFER THE POSSIBILITY OF
COMMUNICATING WITH OTHER FAMILY
MEMBERS, EITHER THROUGH A BRIEF
DESCRIPTIVE LETTER THAT WOULD
THEN ALLOW THEM TO CONTACT US IF
THEY WANTED TO PURSUE ADDITIONAL
HELP IN THAT SPACE.
SO IT IS SOMETHING THAT'S PART
OF CLINICAL GENETICS PRACTICE
AND HAS BEEN FOR A VERY LONG
TIME.
>> ALL RIGHT.
LET'S MOVE ON.
WE'RE GOING TO MOVE ACTUALLY
DOWN A LITTLE BIT TO AB AN
AUDIENCE-GENERATED QUESTION
DIRECTED TO STEPHEN, BRUCE AND
TERI.
TODAY THERE ARE MANY DIFFERENT
LABS OFFERING GENETIC TESTING
AND GENETIC SEQUENCING SERVICES.
CAN YOU SPEAK TO PROGRESS ON
STANDARDIZATION?
THAT IS, HOW ARE THE RESULTS OF
SEQUENCING TESTS BEING REPORTED
TO PROVIDERS, AND HOW ARE
PROVIDERS IN TURN THEN
COMMUNICATING THOSE RESULTS TO
PATIENTS?
HOW ARE RESULTS HANDLED WHEN
THERE ARE MUTATIONS DETECTED
WITHOUT A KNOWN IMPACT ON
HEALTH?
SO-CALLED VARIANCE OF UNCERTAIN
SIGNIFICANCE.
SO ANYONE LIKE TO TAKE THAT ON?
>> MAYBE I'LL TAKE THE EASY PART
ON THE VARIANCE OF UNKNOWN
SIGNIFICANCE FOR MOST LABS ARE
NOT CURRENTLY REPORTING THEM AND
THEY ARE NOT RECOMMENDED TO BE
RETURNED.
WE DO HAVE PARTICIPANTS IN
STUDIES AS WELL AS PATIENTS WHO
WANT EVERYTHING.
AND WHEN THEY ASK FOR
EVERYTHING, A LOT OF TIMES IT'S
NOT CLEAR WHAT EXACTLY THEY'RE
LOOKING FOR, BUT IN GENERAL,
LABS DON'T PROVIDE THOSE.
WHEN IT COMES TO
STANDARDIZATION, THIS IS STILL A
WORK IN PROGRESS.
I THINK, BRUCE, YOU WERE VERY
HEAVILY INVOLVED IN SOME EFFORTS
TO AT LEAST PUT OUT GUIDELINES
FOR LABORATORIES AS TO WHAT
SHOULD BE INCLUDED IN GENETIC
TESTING.
I DON'T KNOW IF YOU WANT TO
COMMENT ON THAT.
>> SURE.
SO THE AMERICAN COLLEGE OF
MEDICAL GENETICS AND GENOMICS
AND THE ASSOCIATION OF MOLECULAR
PATHOLOGISTS GOT TOGETHER A FEW
YEARS AGO NOW AND PUT TOGETHER
GUIDELINES ON HOW TO INTERPRET
SPECIFIC GENOMIC VARIANTS.
AND IT'S A FAIRLY COMPLICATED
SORT OF ALGORITHM, ALTHOUGH YOU
MIGHT THINK OF IT AS ALL STUFF
THAT GOES ON UNDER THE HOOD IN
THE LABORATORY, TRYING TO DECIDE
A PARTICULAR VARIANT.
REALIZE WHEN YOU SEQUENCE A
WHOLE GENOME, ANYBODY WILL HAVE
LIKE 6 MILLION VARIANTS, SO
YOU'RE LOOKING FOR THE ONE THAT
YOU THINK IS MOST LIKELY
RESPONSIBLE FOR THE PROBLEM THAT
YOU'RE TRYING TO EXPLAIN.
AND SO THERE ARE PRETTY WELL
STANDARDIZED CRITERIA NOW.
HONESTLY, THERE'S STILL
OCCASIONAL DISAGREEMENTS BETWEEN
LABS AS TO EXACTLY HOW TO
INTERPRET A PARTICULAR VARIANT,
PARTICULARLY THOSE VARIANT OF
UNKNOWN SIGNIFICANCE, AND I
WOULD SAY THAT THERE'S PROBABLY
STILL WORK TO BE DONE TOWARDS
STANDARDIZING LABORATORY REPORTS
SO THAT A CLINICIAN WOULD KNOW
EXACTLY WHERE TO LOOK FOR
THE CRITICAL INFORMATION.
REALIZING A GENOME'S WORTH OF
DATA IS A LOT OF INFORMATION TO
DIGEST.
BUT HOPEFULLY WE'LL MAKE
PROGRESS IN TERMS OF CODIFYING
IT SO THAT IT'S A BIT EASIER TO
INTERPRET.
AND ASIDE FROM VARIANTS OF
UNKNOWN SIGNIFICANCE, THERE ARE
ALSO SOME CALLED SECONDARY
FINDINGS, WHERE YOU FIND
SOMETHING THAT IS MEDICALLY
IMPORTANT, HAPPENS NOT TO BE
CONNECTED WITH THE REASON DID
YOU THE SEQUENCING IN THE FIRST
PLACE, AND NOW THE STANDARD IS
TO ASK PEOPLE AT THE TIME WHEN
SEQUENCING IS INITIATED IF THEY
WANT TO KNOW ABOUT THOSE.
THE AMERICAN COLLEGE OF MEDICAL
GENETICS AND GENOMICS MAINTAINS
A GROWING LIST OF GENES WHERE IF
YOU CAN IDENTIFY A PATHOGENIC
VARIANT, YOU CAN ACTUALLY OFFER
PREVENTIVE CARE TO AVOID SERIOUS
OUTCOMES SUCH AS CANCER AND
HEART DISEASE, TO TA NAME NAME A COUPLE.
>> WOULD ANYONE CARE TO COMMENT
ON HOW THAT IS COMMUNICATED TO
THE FAMILIES WHEN THEY DO OCCUR,
WHAT YOUR PRACTICE STYLES ARE OR
HAVE BEEN?
>> WHEN WE SIT DOWN WITH A
FAMILY TO GO OVER THE RESULTS OF
SEQUENCING, YOU CAN'T TALK ABOUT
ALL SIX MILL YN MILLION VARIANTS
OBVIOUSLY SO WE FOCUS IN ON THE
ONES THAT WE THINK EITHER
THERE'S COMPELLING EVIDENCE OF
PATHOJE NIS TI OR STRONGLY
PATHOGENIC AND -- THINGS WILL
RETURN.
WE IN A CLINICAL SETTING DO NOT
GET INTO LOTS OF DETAIL ABOUT
VARIANTS OF UNKNOWN SIGNIFICANCE
UNLESS THERE'S A HIGHLY
PLAUSIBLE SORT OF RELATIONSHIP
AND A PATHWAY THAT WE CAN OFFER
TO TRY TO RESOLVE IT.
WE HAVE AVAILABLE, I MENTIONED
EARLIER, GENE MATCHERS
POSSIBILITY, WHICH OF COURSE
EVERYONE HAS AVAILABLE.
WE ALSO HAVE A CENTER FOR
PRECISION ANIMAL MODELING WE CAN
ENROLL PEOPLE IN FOR RESEARCH.
SO THAT, WE KIND OF CUSTOMIZE
WHAT WE TALK ABOUT DEPENDING ON
WHAT THE KIND OF INTEREST AND
NEEDS OF THE FAMILY ACTUALLY
ARE.
>> LET ME JUST ADD THAT GENETIC
COUNSELORS ARE THE GLUE HERE.
THEY ARE THE HEALTHCARE
PROFESSIONALS WHO HAVE THE TIME
AND THE REMIT TO EXPLAIN IN
LEHMANN'S
LAYMAN'S LANGUAGE WHAT THE
RESULTS MEAN.
TRAGICALLY WE HAVE VERY FEW
TRAINING PROGRAMS FOR GENETIC
COUNSELORS.
AS OUR FIELD EXPLODES AND WE'RE
ABLE TO DO THIS FOR THOUSANDS
MORE CHILDREN, WE'RE GOING TO
BADLY NEED MORE GENETIC
COUNSELORS TO FILL THAT GAP.
BECAUSE IT CAN TAKE HOURS TO
UNPACK A REPORT.
>> JUST VERY BRIEFLY, I'LL ADD
ONE THING, BRUCE, I THINK WE'RE
PRETTY CONSISTENT AS FAR AS OUR
REPORTING PRACTICES.
IF THERE IS A BIOASSAY
DOWNSTREAM OR SOMETHING ELSE
THAT CAN ADD SUPPORTING EVIDENCE
TO THAT VARIANT IF WE THINK IT'S
A STRONG CANDIDATE, THEN WE'LL
OF COURSE PURSUE THAT TO SEE IF
THERE'S FUNCTIONAL EVIDENCE OF
AN EFFECT.
>> WE JUST STARTED MAKING NED
CAL DECISIONS BASED ON VUSs
BUT WE CAN SOMETIMES OFFER A
FURTHER PATHWAY TOWARDS
RESOLUTION OF THOSE.
>> OKAY.
JUST A COUPLE QUESTIONS LEFT
HERE, SO I THINK WE WILL BE ON
TARGET AS FAR AS OUR TIME
LIMITATIONS HERE.
THIS AGAIN FOR STEPHEN, BRUCE
AND TERRY.
AS MORE STATES AND PRIVATE PLANS
BEGIN TO COVER RAPID WHOLE
GENOME SEQUENCING, WE ARE
STARTING TO SEE SOME THEMES AND
SIMILARITIES AMONG COVERAGE
CRITERIA AND CUTOFFS.
FOR EXAMPLE, MANY COVERAGE
POLICIES LIMIT SEQUENCING
ELIGIBILITY TO ONE YEAR OF AGE
OR YOUNGER.
CAN YOU SPEAK TO YOUR EXPERIENCE
OF HOW WE ARRIVED AT THIS CUTOFF
AND WHAT THE EVIDENCE BASE IS
LIKE FOR SEQUENCING IN PATIENTS
WHO ARE OLDER?
>> THIS IS AN AREA THAT I HAVE A
LOT OF TIME INVESTED IN, SO
MAYBE I'LL HAVE A QUICK GO AT
IT.
IT'S TRUE.
SO THE STARTING POINT WAS THE
OWE
NEONATAL INTENSIVE CARE UNIT,
WHERE THE FIRST CLINICAL UTILITY
DATA AND THE FIRST
COST-EFFECTIVENESS DATA WAS
GENERATED.
BUT MORE RECENT STUDIES HAVE
SHOWN WHAT'S TRUE IN THE NICU IS
ALSO TRUE IN THE PEDIATRIC
INTENSIVE CARE UNIT WITH OLDER
CHILDREN.
AND THAT, IN FACT, THE FINDINGS
ARE ALMOST IDENTICAL, AND THE
SAME IN THE CARDIOVASCULAR
INTENSIVE CARE UNIT.
SO MORE RECENTLY, THE MOST
RECENT OF THE POLICIES, SO
THAT'S IN MINNESOTA, FOR
EXAMPLE, HAVE EXPANDED IT FROM
CHILDREN LESS THAN ONE YEAR OF
AGE TO ALL CHILDREN WHO ARE
MEDICAID BENEFICIARIES IN ANY
INTENSIVE CARE UNIT SETTING.
SO I THINK THIS IS EVOLVING, I
THINK WE NEED TO CONTINUE TO
GENERATE THE DATA AND THE PAST
PRACTICES BUT I DON'T THINK
WE'RE FINISHED YET, I THINK WE
ARE STILL MISSING DESERVING
CHILDREN AND BABIES WHO MAY NOT
MAKE IT.
HUDSON'S STORY, FOR MOST OF HIS
HOSPITALIZATION WAS NOT IN THE
INTENSIVE CARE UNIT, AND THAT
WAS A LARGE REASON WHY HE DIDN'T
GET GENOME SEQUENCING EARLIER.
SO THERE ARE INTENSIVE CARE
UNITS WE ALSO NEED COVERAGE FOR.
>> I'M TRAINED AS A PEDIATRICIAN
BUT SEE LOTS OF ADULTS AND
ACTUALLY THE FIRST FAMILY THAT
WE SOLVED BY SEQUENCING, THE
YOUNGEST MEMBER OF THREE, I
THINK, WAS OVER 20.
THIS SIP SHIP HAD BEEN TREATED
WITH THE COMPLETELY APPROPRIATE
AND INEFFECTIVE, I MIGHT ADD,
TREATMENT BECAUSE THE DIAGNOSIS
WAS WRONG.
ONCE THE DIAGNOSIS WAS
ESTABLISHED BY SEQUENCING, THEIR
ENTIRE TREATMENT REGIMEN
CHANGED.
AND I CAN MENTION MANY OTHER
EXAMPLES OF ADULTS I'VE SEEN
WHERE DIAGNOSTIC ODYSSEYS HAD
GONE ON MANY TIMES FOR DECADES,
AND WHERE RESOLUTION COULD BE
ACHIEVED AND IN MANY CASES, NEW
TREATMENTS OFFERED.
>> ALL RIGHT.
SO I'VE JUST BEEN NOTIFIED BY
MAX THAT WE NEED TO GO AHEAD TO
OUR LAST QUESTION NOW.
I REQUEST THAT THE RESPONSES ARE
BRIEF FOR ANY PANELISTS THAT
WOULD LIKE TO RESPOND.
WHAT ADVICE WOULD YOU OFFER TO
THOSE WHO MAY BE INTERESTED IN
ADVANCING ACCESS TO SEQUENCING?
SO PRETTY OPEN-ENDED THERE.
>> OBVIOUSLY AS STEPHEN
ADDRESSED, PROVIDING BROADER
COVERAGE FOR IT ACROSS AGE
GROUPS AND ACROSS STATES.
>> REACH OUT TO US.
THERE IS A COMMUNITY INVESTED IN
HELPING INDIVIDUALS.
JUST REACH OUT.
WE CAN'T PROMISE WE CAN HELP,
BUT WE'LL SURE DO OUR BEST TO
PUT YOU IN CONTACT WITH THE
RIGHT PEOPLE.
>> MY ANSWER WOULD, LISTEN TO
THE PATIENT COMMUNITY.
THESE ARE THE PEOPLE WHO KNOW
BEST, REALLY, WHAT THEIR NEEDS
ARE, AND I THINK WE HAVE A LOT
TO LEARN FROM PATIENT ADVOCATES
AND PEOPLE WHO ARE LIVING THIS
EVERY DAY.
>> OKAY.
SUSIE, PROBABLY MOST
IMPORTANTLY, WHAT WOULD YOU SAY?
>> UM, IN MY EXPERIENCE, I KNOW
THAT THE DOCTORS AND SPECIALISTS
AND NURSES IN THE HOSPITAL TO
ALSO BE AWARE OF WHAT GENOME
SEQUENCING IS, WHERE TO FIND
THAT, HOW TO ACCESS IT,
PROVIDING INFORMATION IS KEY,
BECAUSE WE DID NOT KNOW ANYTHING
ABOUT IT UNTIL WE HAD A FAMILY
FRIEND WHO MENTIONED TO US.
SO THAT'S MY ADVICE.
>> ALL RIGHT.
SO AGAIN, THANK YOU ALL FOR
JOINING US TODAY AND PROVIDING
YOUR VALUABLE INSIGHT INTO THESE
VERY, VERY IMPORTANT QUESTIONS
FOR WHAT WE ALL ASPIRE TO, AND
THAT IS PROVIDING BEST POSSIBLE
CARE FOR OUR PATIENTS.
SO WITH THAT, I'LL TRANSITION
NOW TO INTRODUCE OUR NEXT
SPEAKER, LEE FLEISHER, CHIEF
MEDICAL OFFICER AND DIRECTOR FOR
THE CENTER FOR CLINICAL
STANDARDS AND QUALITY WITH THE
CENTERS FOR MEDICARE AND
MEDICAID SERVICES.
SO LEE, YOU'RE ON.
>> THANK YOU SO MUCH, AND IT'S A
PRIF LENL TO
PRIVILEGE TO BE HERE WITH YOU
TODAY AND TO HEAR HUDSON'S STORY
AND THE THOUGHTS ABOUT HOW DO
YOU GET THIS COVERAGE AS SOMEONE
WHO CONTINUES TO PRACTICE AND
SOMEONE WHO, IN FACT, BOTH I AND
MY WIFE, HAVE A GENETIC DISEASE,
FORTUNATELY WE HAVE TWO HEALTHY
GROWN ADULTS AT THIS POINT, BUT
REALLY THE COMMENTS THAT WERE
MADE ABOUT THE IMPORTANCE AT THE
BEGINNING OF GENETIC CONCEPTS AS
A KEY COMPONENT OF THIS, THAT
WAS REALLY CRITICAL WHEN WE WERE
MAKING DECISIONS.
SO YOU KNOW, AS THE CHIEF
MEDICAL OFFICER FOR CMS, I WANT
TO FIRST ACKNOWLEDGE THAT REALLY
WE HAVE TWO DIFFERENT PROGRAMS.
OUR PROGRAMS DO INFLUENCE HOW
OTHER INSURERS LOOK AT IT.
OUR MEDICARE PROGRAM IS TRULY
NATIONAL, ALTHOUGH EVEN WITHIN
THAT CONTEXT, THERE'S
DIFFERENCES BETWEEN DIFFERENT
MEDICARE ADMINISTRATIVE
CONTRACTORS OR ESSENTIALLY
DIFFERENT COMPONENTS WITHIN THE
COUNTRY, BUT ALSO OUR MEDICAID
PROGRAM REALLY, AS YOU'VE HEARD
TODAY, IS STATE-BASED.
AS WE THINK OF GENOMIC TESTING,
AND WE AT CMS HAVE THOUGHT QUITE
A BIT ABOUT, WE ACTUALLY IN
2018, FOR THE MEDICARE
POPULATION, HAD THE FIRST NEXT
GENERATION SEQUENCING NATIONAL
COVERAGE DECISION.
AND WE PROVIDE CONSISTENT
MEDICARE COVERAGE FOR
FDA-APPROVED OR CLEARED
DIAGNOSTIC TESTS USING THIS NGS
OR NATIONAL COVERAGE DECISION
RELATED TO GENOMIC TESTING THAT
WAS REALLY BEGAN WITH ADVANCED
CANCERS MEETING SELECT CRITERIA.
IN 2020, WE, IN FACT, ADDED
FDA-APPROVED OR CLEARED
DIAGNOSTIC TESTS FOR CERTAIN
PATIENTS WITH GERMLINE TESTING.
AND FOR LAB TESTS, FOR TESTS
DEVELOPED AT PLACES LIKE
UNIVERSITY OF ALABAMA AND OTHER
SITES, WE ALLOWED THESE
CONTRACTORS TO DO THAT.
BUT THE STATES REALLY DO IT
DIFFERENTLY, AND THAT'S WHAT
YOU'RE HEARING TODAY, THAT WE AT
CMS AND PARTICULARLY
ADMINISTRATOR VERY MUCH WANTS TO
WORK WITH THE STATE TO PROVIDE
THE BEST CARE, AND WHAT I HEARD
WAS IN EQUITABLE FASHION.
IT SHOULDN'T BE IF YOU'RE IN ONE
STATE OR ONE AREA, YOU GET
ACCESS TO CARE.
BUT WE DO HAVE CERTAIN STATUTORY
AUTHORITIES THAT REALLY LIMIT
THIS.
AND I THINK THAT'S THE KEY
MESSAGE WHEN YOU WERE ASKING HOW
DO YOU DO THIS.
IT'S WORKING WITH YOUR LOCAL
STATE, BECAUSE THEY CAN
IMPLEMENT UTILIZATION MANAGEMENT
TO DETERMINE MEDICAL NECESSITY.
AS YOU DEFINED HERE TODAY THAT
IDEA OF DEVELOPING THAT EVIDENCE
BASE AND MAKING SURE YOU
ADVOCATE FOR CERTAIN CONDITIONS
TO BE ABLE TO DO THAT TESTING.
THE EARLY AND PERIODIC SCREENING
DIAGNOSTIC AND TREATMENT OR THE
EPSDT BENEFIT, AS WE CALL IT
WITHIN THE AGENCY, PROVIDES
COMPREHENSIVE PREVENTIVE
HEALTHCARE SERVICES FOR CHILDREN
UNDER 21 WHO ARE ENROLLED IN
MEDICAID.
BUT PER THAT BENEFIT, THE STATE
MAY DETERMINE THAT GENETIC
TESTING IS MEDICALLY NECESSARY
BASED ON INDIVIDUAL
DETERMINATION FOR CHILDREN UNDER
21, AND WHAT YOU'LL HEAR NEXT IS
REALLY WHAT WE SEE AS A PROGRAM
IN MICHIGAN IN WHICH YOU CAN DO
RAPID WHOLE GENOME TESTING TO
PROVIDE HOSPITAL REIMBURSEMENT
OUTSIDE OF THE DIAGNOSIS-RELATED
GROUP FOR SPECIFIC TESTING.
SO I THINK THE REAL THEME YOU
HEAR FROM ME TODAY IS, WE ARE
SUPPORTIVE AND THAT AS YOU WORK
WITH THE STATES, WE LK LOOK FORWARD
TO HEARING FROM THE STATES TO
PROPOSE A PLAN TO EVALUATE SO
THAT WE CAN EXPAND THOSE
PROGRAMS THAT SERVE THE PEOPLE
WE SERVE SO WELL, AS IS THE
THEME FROM OUR ADMINISTRATOR, AS
WELL AS REALLY ENSURING THAT
PEOPLE GET EQUITABLE CARE.
SO WITH THAT, I'LL TURN IT OVER
TO WENDY FROM THE UNIVERSITY OF
MICHIGAN TO MODERATE THE NEXT
PANEL.
>> I AM A GENETIC COUNSELOR AND
CLINICAL PROFESSOR AT THE
UNIVERSITY OF MICHIGAN.
GOOD AFTERNOON, MY NAME IS WENDY
UHLMANN, I'M A GENETIC COUNSELOR
AND CLINICAL PROFESSOR AT THE
UNIVERSITY OF MICHIGAN.
I HAVE BEEN ASKED TO GIVE A
THREE-MINUTE INTRODUCTION TO
THIS PANEL, WHICH ACCORDING TO
MY GOOGLE SEARCH, IS 450 WORDS.
THE STATE OF MICHIGAN HAS A RICH
HISTORY IN GENETICS.
THE FIRST GENETICS CLINIC IN THE
WORLD WAS LAUNCHED AT THE
UNIVERSITY OF MICHIGAN IN 1941.
OUR STATE HAS HAD A PUBLIC
HEALTH GENETICS PROGRAM SINCE
1979, WITH GENETIC OUTREACH
CLINICS OFFERED IN THE UPPER
PENINSULA AND OTHER PARTS OF THE
STATE SINCE 1980.
IN 2000, EIGHT YEARS BEFORE THE
PASSAGE OF GANA, THE GENETIC
NON-DISCRIMINATION ACT, MICHIGAN
BECAME AMONG THE EARLY STATES TO
PASS LEGISLATION TO PREVENT
GENETIC DISCRIMINATION BY HEALTH
INSURERS AND EMPLOYERS.
SINCE 2000, MICHIGAN HAS BEEN
ONE OF THE FEW STATES WITH A LAW
THAT REQUIRES HEALTHCARE
PROFESSIONALS TO FULLY INFORM
PATIENTS HAVING PRESYMPTOMATIC
OR PREDICTIVE GENETIC TESTING
ABOUT THE BENEFITS, RISKS AND
LIMITATIONS BEFORE TESTING IS
DONE.
FOR OVER THREE DECADES, I HAVE
PROVIDED GENETIC COUNSELING TO
ADULT PATIENTS.
PATIENTS FACE INSURANCE COVERAGE
AND OTHER BARRIERS TO ACCESS
GENETIC SERVICES AND GENETIC
TESTING.
THE INABILITY FOR PATIENTS TO
HAVE GENETIC TESTING AND
IDENTIFY THE GENETIC CAUSE FOR
THEIR MEDICAL CONDITION HAS
IMPLICATIONS NOT ONLY FOR THE
PATIENT'S CARE, BUT POTENTIALLY
FOR THEIR OTHER RELATIVES AS
WELL.
OFTEN IT IS NECESSARY TO TEST AN
AFFECTED INDIVIDUAL TO SEE IF A
GENE CHANGE IS IDENTIFIABLE
BEFORE AT-RISK FAMILY MEMBERS
CAN BE TESTED.
FACILITATING WHAT IS KNOWN AS
CASCADE SCREENING.
THEREFORE, THE IMPACT OF GENETIC
TESTING EXTENDS BEYOND THE
PATIENT TO FAMILY MEMBERS, AND
CAN ALSO HAVE IMPACT BEYOND
MEDICAL CARE TO REPRODUCTIVE AND
LIFE DECISIONS.
WHEN I WAS CONTACTED BY MAX
BRONSTEIN, I WAS IMPRESSED TO
LEARN THAT MICHIGAN, IN 2021,
BECAME THE FIRST STATE TO MAKE
RAPID WHOLE GENOME SEQUENCING A
COVERED BENEFIT FOR ELIGIBLE
INFANTS WITH MEDICAID INSURANCE,
AND THAT INDEPENDENTLY, BLUE
CROSS/BLUE SHIELD OF MICHIGAN
ALSO MADE A SIMILAR COVERAGE
DECISION.
WHILE THIS IS AN IMPORTANT FIRST
STEP IN ADDRESSING EQUITY IN
CLINICAL GENOMIC SCWEEPSING SEQUENCING
ACCESS, IT IS LIMITED TO
INFANTS.
THEREFORE, WE ARE JUST BEGINNING
TO ADDRESS THE NEEDS OF PATIENTS
IN THIS SPACE, AND NEED TO
CONSIDER HOW TO EXTEND INSURANCE
COVERAGE TO PATIENTS OF ALL
AGES.
LIKE EVERYONE ATTENDING TODAY, I
AM INTERESTED IN LEARNING HOW
INSURANCE COVERAGE DECISIONS
WERE SUCCESSFULLY ACHIEVED FOR
GENOMIC SEQUENCING OF ELIGIBLE
INFANTS AND ESPECIALLY FOR A NEW
TECHNOLOGY.
THANK YOU TO ATTENDEES FOR
SUBMITTING SO MANY THOUGHTFUL
QUESTIONS OF WHICH JUST A
PORTION CAN BE ADDRESSED TODAY.
I'VE DONE THE MATH, WE ACTUALLY
HAVE 11 QUESTIONS THAT WE HOPE
TO GET THROUGH, BUT ACTUALLY IF
YOU COUNT THE SUBQUESTIONS,
WE'RE UP TO 18.
SO I WANT TO GET STARTED HERE,
AND IT IS MY PRIVILEGE AND HONOR
TO INTRODUCE OUR PANEL SPEAKERS.
DR. LYNNE CARTER, MEDICAL
DIRECTOR, BLUE CROSS/BLUE SHIELD
OF MICHIGAN.
LAURA APPEL, EXECUTIVE VICE
PRESIDENT OF GOVERNMENT
RELATIONS AND PUBLIC POLICY,
MICHIGAN HEALTH & HOSPITAL
ASSOCIATION.
BRIAN KEISLING, DIRECTOR, BUREAU
OF MEDICAID POLICY, MICHIGAN
DEPARTMENT OF HEALTH & HUMAN
SERVICES.
AND DR. CALEB BUPP, DIVISION
CHIEF OF MEDICAL GENETICS AND
GENOMICS, BEAUMONT HEALTH
SPECTRUM HEALTH AND HELEN DEVOS
CHILDREN'S HOSPITAL.
SO OUR FIRST QUESTION IS GOING
TO GO TO CALEB.
IN THE FIRST PANEL, WE HEARD
ABOUT THE CLINICAL UTILITY OF
SEQUENCING AND THE REMARKABLE
DIAGNOSTIC DATA FROM STATE
PILOT.
CAN YOU TELL THE AUDIENCE ABOUT
HOW PROJECT BABY BEAR CAME
TOGETHER AND WHAT WERE THE KEY
FINDINGS?
>> SURE.
THANKS, EVERYBODY, FOR THE
CHANCE TO TALK ABOUT OUR HOME
STATE HERE.
SO PROJECT BABY DEAR STARTED AS
A CONVERSATION AT LUNCH.
I WAS AT THE FRONTIERS IN
PEDIATRIC GENOMIC MEDICINE
CONFERENCE AND WAS EATING LUNCH
WITH A NEONATOLOGIST FROM
ANOTHER HOSPITAL IN MICHIGAN,
DR. ANDREA SHERR, AND WE HAD
JUST HEARD A PRESENTATION ABOUT
PROJECT BABY BEAR, WHICH YOU
HEARD ABOUT A LITTLE EARLIER.
HERE IN MICHIGAN WE STARTED
USING RAPID GENOME SEQUENCING
ABOUT A YEAR AHEAD OF THAT
CONFERENCE BECAUSE WE WERE
LOOKING AT KIND OF WHAT WAS
COMING NEXT FOR THE CARE OF
CHILDREN AND ABOUT AN HOUR SOUTH
OF US AT ANOTHER HOSPITAL,
BRONSON CHILDREN'S HOSPITAL,
THEY WERE STARTING TO SAY HOW
CAN WE USE GENOME SEQUENCING
TOO?
SO OUR HOSPITALS ARE A LITTLE
DIFFERENT, SO OUR CHILDREN'S
HOSPITAL WHERE I'M AT HAS A
LEVEL FOUR NICU, BRONSON HAS A
LEVEL 3, ABOUT HALF THE SIZE BUT
TURNS OUT BOTH NICUs HAVE
CHILDREN WITH GENETIC DISEASES
IN THEM.
SO WE STARTED TO BUILD THIS
RELATIONSHIP TALKING BACK AND
FORTH.
WE WERE SITTING AT LUNCH AND
ANDREA SAID TO ME THAT BABY BEAR
THING WAS REALLY COOL.
WE SHOULD DO THAT IN MICHIGAN.
I'LL GIVE HER ALL THE CREDIT,
SHE SAID WE'LL CALL IT PROJECT
BABY DEAR.
SO WE LEFT THAT CONFERENCE AND
CONNECTED WITH MHA AND MHA EVERY
YEAR CONVENES A CHILDREN'S
COUNCIL WHERE THEY BRING
TOGETHER LEADER FROM ALL THE
HEALTH SYSTEMS IN MICHIGAN FOR
SORT OF JUST AN UPDATE, SO WE
WENT AND TALKED ABOUT RAPID
WHOLE GENOME SEQUENCING, REALLY
IT WAS MEANT TO BE EDUCATIONAL,
AND THAT ROOM, IT WAS ONE OF
THOSE TIMES WHERE JUST THE LIGHT
BULBS WENT ON, ABOVE EVERYBODY'S
HEAD.
IT WAS LIKE, WOW, THIS IS REALLY
COOL, WE COULD DO THIS IN
MICHIGAN.
SO WHAT THAT LED TO WAS PROJECT
BABY DEAR, AND WE MET LATE IN
THE YEAR RIGHT BEFORE
THANKSGIVING FOR A STAKEHOLDER'S
MEETING, INVITED EVERY
CHILDREN'S HOSPITAL IN THE STATE
TO HAVE REPRESENTATION AND WE
KIND OF TALKED THROUGH THIS,
WHAT WOULD THIS LOOK LIKE, WHAT
COULD WE DO.
WHAT WE SELL THE SETTLED ON WAS OPENING
UP ACCESS TO RAPID WHOLE GENOME
SEQUENCING TO EVERY CENTER IN
MICHIGAN.
WE TALKED ABOUT NOT CAPPING THE
AGE AT 1 OR 12, WE JUST SAID,
HEY, WHATEVER AGE, AND IT ALSO
DIDN'T MATTER WHAT INSURANCE
PATIENTS HAD.
WE ACTIVELY ENGAGED WITH PAYORS
IN OUR STATE PARTICULARLY WITH
THE HELP OF MHA WORKING WITH MDH
RIGHT OFF THE BAT AND GATHERING
USEFUL ECONOMIC DATA AS WE WENT
THROUGH THIS USING SORT OF A
STANDARD CLINICAL ASSESSMENT.
SO WHAT WE LEARNED THE LAST
SNAPSHOT WE DID WAS ABOUT 90
KIDS THROUGHOUT THE STATE OF
MICHIGAN.
WE WERE REALLY EXCITED THAT THE
RACE AND ETHNICITY FAIRLY
MATCHED WHAT MICHIGAN LOOKS LIKE
IN GENERAL, AND WE SAW WHAT
OTHERS HAD SEEN, A DIAGNOSTIC
RATE OF ABOUT 39%, A CHANGE IN
MANAGEMENT OF 27%, AND I THINK
STEPHEN SHARED EARLIER THERE ARE
MULTIPLE STUDYS THAT HAVE SHOWN
THIS.
SO WE WEREN'T NECESSARILY DOING
ANYTHING NOVEL, BUT WHAT WE WERE
DOING WAS BEING TRUE TO OUR WORD
AS SORT OF A GRASSROOTS GROUP
THAT, HEY, WE WERE GOING TO
STUDY THIS, WE WERE GOING TO
LOOK AT IT, WE WERE GOING TO
PROVIDE THAT INFO BACK AND FORTH
TO SHARE AND WE ALSO SAW THE
FINANCIAL SAVINGS AS WELL.
SO THAT'S A LITTLE ABOUT HOW
THINGS STARTED AND THEN WE'LL
TALK ABOUT WHERE THINGS HAVE
GONE FROM HERE.
>> FANTASTIC.
I THINK THERE'S A BABY MANATEE
PROJECT IN FLORIDA AND I HOPE
WE'LL RUN OUT OF ANIMALS AS ALL
THE STATES FOLLOW SUIT.
SO THIS QUESTION IS GOING TO
ACTUALLY BE TO LAURA.
HOW DID THE MHA LEVERAGE THE
DATA FROM PROJECT BABY DEAR, AND
CAN YOU TELL US MORE ABOUT THE
EDUCATION CAMPAIGN THAT YOU
HELPED TO LEAD AND WHO WERE THE
KEY PARTNERS IN DRIVING THE
CAMPAIGN FORWARD?
SO I GUESS THAT'S THREE
QUESTIONS IN ONE.
TAKE THEM IN ANY ORDER YOU WANT.
>> I THINK I'LL START WITH KIND
OF PART 21ST, AND THAT IS, YOU -- PART 2 1 ST, HOW
DID WE JUMP OFF -- DR. SHERR
CAME TO US AND HAD THIS
CONVERSATION AT THE CHILDREN'S
COUNCIL.
WE DID THINK TO OURSELVES, HEY,
MAYBE WE COULD GET A LITTLE
APPROPRIATION FOR THIS AND SEE
IF WE COULD GET IT STARTED THAT
WAY, BUT ALSO PROBABLY REALLY
OUR FIRST PARTNER WAS THERE IS A
FOUNDATION THAT'S ASSOCIATED
WITH ONE OF OUR CHILDREN'S
HOSPITALS.
WE WENT TO THEM, IT WAS AT THE
TIME CALLED CHILDREN'S
MICHIGAN -- FOUNDATION, BUT A
LITTLE BIT OF MONEY TO GET THIS
OFF THE GROUND.
SO THEY WERE A WONDERFUL
PARTNER, YOU CAN TELL BY THEIR
NAME THEY'RE FOCUSED ON KIDS,
AND THEN WE TOOK THAT -- WE
BUILT FROM THAT, WE UNDERSTOOD
MORE ABOUT HOW THIS ALL WORKS
AND WHAT THE OUTCOMES ARE AND
FOR A SMALL APPROPRIATION, WE
WERE LOOKING FOR GETTING THIS
MATCHED BY MEDICAID AND ALSO
SOME PRIVATE DOLLARS, SO WE'RE
TRYING TO GIVE IT A VERY SMALL
APPROPRIATION, AND SO LONG STORY
LONG, WE GOT THE MONEY
APPROPRIATED IN A BUDGET, IN A
STATE BUDGET, AND NOW IT'S TIME
TO TALK TO OUR MICHIGAN
DEPARTMENT OF HEALTH AND HUMAN
SERVICES, WHO BRIAN REPRESENTS
HERE, AND WE DID HAVE SOME DATA,
AND AS CALEB MENTIONED, AND IT
WAS VERY SIMILAR TO WHAT
DR. KINGSMORE MENTIONED EARLIER.
YOU COULD SEE THAT -- I ASKED A
PHYSICIAN TOTALLY SEPARATE ALL
OF THIS FROM ONE TIME, I SAID,
YOU KNOW, ABOUT ONE OUT OF THREE
TIMES THE CHANGE IN THE
MANAGEMENT HAPPENS, AND I SAID
IS THAT A LOT, IS THAT A LITTLE,
LIKE HOW DOES IT FIT?
I'M NOT A CLINICIAN.
HE SAID, THAT'S A LOT.
SO I THOUGHT, OKAY, THAT'S GOOD
TO KNOW.
BUT I WANT TO BE REALLY CLEAR
THAT, YOU KNOW, I REMEMBER THE
VERY FIRST MEETING THAT WE HAD
WITH BRIAN'S TEAM BETWEEN MHA
AND BRIAN'S GROUP, AND MEDICAID
IN OUR STATE -- IT WAS CALLED
THE MEDICAL SERVICES
ADMINISTRATION, MSA.
OUR RELATIONSHIP WITH MSA IS
SOMETHING THAT GOES WAY BACK.
THERE ARE PEOPLE HERE AT MHA
THAT HAVE A LONG-STANDING
RELATIONSHIP SPECIFICALLY WITH
MEMBERS OF THAT TEAM, AND IT WAS
VERY MUCH ONE OF THOSE
SITUATIONS WHERE WE WERE NOT
MAKING FRIENDS THE DAY WE NEEDED
THEM.
SO WE CAME AT IT WITH -- THERE
WERE MANY WAYS THAT MHA AND MSA
INTERSECT, AND I THINK THE OTHER
THING, THOUGH, THAT WAS REALLY
REWARDING WAS THE FIRST
CONVERSATION WE HAD WITH MDHHS.
IT WAS CLEAR THAT THEY HAD
ALREADY BEEN THINKING ABOUT THIS
IN TERMS OF WHAT DOES THIS
REALLY MEAN.
IT WASN'T LIKE CONVINCE US, I
THINK THEY HAD ALREADY BEEN
DOING INTERNALLY THINKING ABOUT
HOW ARE WE GOING TO MAKE THIS
WORK, WHAT WOULD BE THE BEST WAY
TO APPROACH IT, THINGS LIKE
THAT.
SO -- BECAUSE GOING BACK TO THE
QUESTION ABOUT THE DATA, WE HAD
NOT A BIG -- WE DIDN'T HAVE A
BIG SAMPLE, BUT THE SAMPLE WAS
VERY SIMILAR TO WHAT EVERYBODY
ELSE HAS TALKED ABOUT HERE
TODAY.
YOU DO HAVE SOME CHANGE IN
MEDICAL MANAGEMENT.
ONE THING I WOULD SAY THAT
SURPRISED ME BL OUR INITIAL
SAMPLING STILL KIND OF
SURPRISING ME IS THAT A LOT OF
ANSWERS ARE NOT GREAT.
WE END UP GETTING A LOT OF
BABIES WHO NEED COMFORT CARE.
BUT EVEN, I THINK AS HUDSON'S
FAMILY SAID, JUST KNOWING, YOU
JUST WANT TO KNOW, PLEASE LET US
KNOW WHAT'S GOING ON HERE.
AND THAT'S BEEN ONE OF THE MOST
REWARDING THINGS ABOUT WORKING
ON THIS, IS HELPING FAMILIES
KNOW.
BUT I GUESS MY CONCLUSION IS, IN
TERMS OF PARTNERING, THIS WAS
ANOTHER OPPORTUNITY WITH OUR
PARTNERS AT OUR DEPARTMENT OF
PUBLIC HEALTH, WHICH IN MICHIGAN
IS MDHHS.
IT WASN'T OUR FIRST, IT WAS
REALLY OUR CONTINUATION.
>> I'M CERTAINLY GETTING THE
FEELING ABOUT CONNECTIONS AND
RELATIONSHIPS AND HOW THAT PLAYS
A ROLE.
SO WITH THAT ACTUALLY, BRIEP,
CAN YOU SHARE A LITTLE BIT HOW
WAS THE DATA LEVERAGED BY
MEDICATE AND WHAT WAS THE MOST
HELPFUL IN DESIGNING A COVERAGE
POLICY IN THIS SPACE?
>> SURE, HAPPY TO DO THAT.
THANKS FOR YOUR KIND WORDS,
LAURA.
WHICH I WOULD ECHO.
YOU KNOW, I WOULD SAY THAT THE
DATA WAS -- IT WAS CENTRAL AND
JUST AS WE STARTED TO LOOK AT
THIS, WHEN WE STARTED
IMPLEMENTATION STEPS JUST
KNOWING ABOUT PREVALENCE,
KNOWING ABOUT RARENESS, KNOWING
THAT WE WEREN'T TALKING, YOU
KNOW, THOUSANDS, TENS OF
THOUSANDS OF KIDS, WE'RE TALKING
HUNDREDS OF KIDS AND POTENTIALLY
HAVING THE ABILITY TO INFLUENCE
IN A POSITIVE WAY WHAT HAPPENED
WITH A REALLY SMALL SUBSET BUT A
REALLY IMPORTANT SUBSET OF OUR
POPULATION.
THAT WAS CRUCIAL, HAVING THE
BABY DEAR PILOT UP AND RUNNING,
SO WE HAD A LITTLE BIT OF
INFORMATION BUT KNOWING THAT AT
THE MOST, WE WERE TALKING IN THE
LOW HUNDREDS, AS A STATEWIDE
NUMBER, AND MEDICAID IN MICHIGAN
IS PROBABLY NOT AN OUTLIAR IN
THAT WE PAY FOR ROUGHLY HALF THE
BIRTHS IN THE STATE, SO SIMPLE
MATH, ROUGHLY HALF OF THE
SICKEST KIDS AT LEAST WOULD
PROBABLY FALL TO US AT SOME
POINT IN TIME.
SO HAVING THAT DATA WAS CRUCIAL,
AND THEN ESPECIALLY HAVING
INFORMATION ABOUT TSH -- HONESTLY --
I WORK ON A LOT OF FINANCIAL
THINGS.
THIS WASN'T PURELY A FINANCIAL
DECISION.
BUT KNOWING THE HOSPITAL DAYS
COULD BE AVOIDED, PROCEDURES
COULD BE CANCELED, CORRECT
PROCEDURES COULD BE SCHEDULED.
THAT WAS A VERY COMPELLING
ARGUMENT, BUT I THINK THE MOST
COMPELLING ARGUMENT WAS REALLY
JUST THE FACT THAT AS A PARENT
OF THREE, KNOWING IF I HAD A KID
IN ONE OF THOSE SITUATIONS, JUST
KNOWING, GETTING A DIAGNOSIS
EXPEDITED WOULD BE VERY
IMPORTANT TO ME.
SO IT WAS VERY RELATABLE FROM
THAT PERSPECTIVE.
AND FROM -- YOU KNOW, FROM A
MEDICAID PERSPECTIVE, THESE
TESTS ARE NOT INEXPENSIVE STILL,
YOU KNOW, FROM THE WAY WE HAVE
TO BE CAREFUL -- GOOD STEURTS OF
THE RESOURCES WE HAVE AS A
PUBLIC PROGRAM, BUT HAVING A
BABY LANGUISH IN THE NICU IS
ALSO VERY EXPENSIVE, AND TO THE
EXTENT THAT WE COULD GET THEM
OUT OF THERE AND GET THEM BACK
HOME BECAUSE WE EITHER HAD A
DISEASE THAT COULD BE DIAGNOSED
AND TREATED OR AT LEAST GIVE
THEM COMFORT CARE THAT THEY
NEEDED, THAT WAS COMPELLING FOR
US.
>> AND ACTUALLY, BRIAN, I
ACTUALLY APPRECIATE WHAT YOU
JUST SAID ABOUT THE COST --
WHILE COSTS OF GENOMIC
SEQUENCING IS THERE, SO IS THE
COST OF HAVING A CHILD IN THE
NICU AS WELL.
SO LYNNE ACTUALLY, IT TURNS OUT
AS MEDICAID WAS DOING THIS
SIMULTANEOUSLY BLUE CROSS/BLUE
SHIELD OF MICHIGAN WAS
CONSIDERING A COVERAGE POLICY IN
THIS SPACE AS WELL.
SO CAN YOU SHARE KIND OF WHAT
WERE THE KEY TOOLS IN GUIDING
THE DECISION-MAKING, AND WHAT
ROLE DO YOU SEE IN PRIVATE
PAYORS ADDRESSING HEALTH
DISPARITIES AND ADVANCING EQUITY
THROUGH BROADENED ACCESS?
>> WELL, THANK YOU, WENDY, FOR
THE QUESTION AND I'M HAPPY TO
PARTICIPATE IN THIS DISCUSSION.
AND I SEE I HAVE A TWO-PART
QUESTION ALSO, SO I WILL DO MY
BEST TO RESPOND TO BOTH PARTS.
I WOULD SAY UPON REFLECTION,
THERE REALLY WERE NO TOOLS PER
SE THAT WE USE TO MAKE THE
DECISION.
IT WAS REALLY THE CONTINUED
EVOLUTION OF OUR THINKING.
GENETIC TESTING AS WE ALL KNOW,
AND REALLY APPRECIATE, HAS
CHANGED THE LANDSCAPE OF
HEALTHCARE.
IT HAS CHANGED THE PRACTICE OF
MEDICINE.
IT TOUCHES SO MANY PARTS,
WHETHER IT'S THE DIAGNOSIS,
WHETHER IT'S THE
PROGNOSTICATION, WHETHER IT'S
TREATMENT STRATEGIES.
GENETIC TESTING AND THE RESULTS
OF THAT ARE PART OF IT, AND WITH
THAT CHANGE TO HEALTHCARE
DELIVER REAL THERE'S BEEN CHANGE
TO THE PAYOR.
WHEN WE LOOK AT WHAT WE DECIDE
TO COVER, IT OFTEN -- I GUESS
FOUNDATIONALLY, IT REALLY
REVOLVES AROUND UTILITY AND
WE'VE HEARD REFERENCE TO THAT IN
THE FIRST SECTION, BUT WHEN WE
LOOK AT UTILITY, WE REALLY WANT
TO KNOW, WILL THIS INTERVENTION,
WILL THESE RESULTS LEAD TO A
CHANGE IN MANAGEMENT THAT THEN
CREATES IMPROVED HEALTH OUTCOMES
FOR OUR MEMBERS, AND THAT WE
STICK WITH.
HOWEVER, WITH GENETIC TESTING,
AND THE GROWTH AND THE
TECHNOLOGY AND THE KIND OF --
THE EMERGENCE OF SO MUCH
INFORMATION SO COMPLETELY, IT'S
BEEN CHALLENGING TO DISTINGUISH
BETWEEN WHAT IS USEFUL AND WHAT
IS PRESENT BUT MAYBE NOT
CLINICALLY MEANINGFULMENT SO WE
HAVE EMBRACED INGFUL.
SO WE HAVE EMBRACED GENETIC
TESTING -- WHOLE GENOME
SEQUENCING IN SOME SITUATIONS
AND WE REALIZE WITH MULTIPLE
CONGENITAL ANOMALIES OR KNOWN
DEVELOPMENTAL CONDITIONS, AND
ROUTINE TESTING AS THAT FOUND AN
ANSWER OR THE ANSWER IS
NECESSARY TO REALLY PROVIDE AN
OUTCOME THAT WE ARE -- THAT WE
WANT FOR ALL OF OUR MEMBERS, THE
SEQUENCING TESTING WAS
NECESSARY.
SO WE WERE THERE, BUT INVOLVING
THIS SITUATION, WE WERE REALLY
BEING APPROACHED BY SPECIALISTS
AND PROVIDERS WHO WE RESPECT WHO
WERE SAYING THERE'S A REAL
BENEFIT TO THIS TESTING, AND WE
WITHIN QUESTION -- CAN YOU
DISTINGUISH BETWEEN WHAT IS
IMPORTANT TO KNOW OR THAT YOU
NEED TO KNOW VERSUS WHAT IS NICE
TO KNOW.
BECAUSE WE WANT TO COVER WHAT
YOU NEED TO KNOW TO MAKE A
DIFFERENCE.
AND THEY SAID YES, WE HAD THE
OPPORTUNITY TO TALK WITH A
MEDICAL DIRECTOR WHO WAS WITH
THE PROGRAM IN CALIFORNIA AND WE
WERE ABLE TO REVIEW THAT DATA,
AND THAT, TOO, WAS NOT JUST
POLICY
PROMISING BUT WAS SHOWING
EFFECTIVENESS.
WE DID REVIEW THE PROJECT BABY
DEER AND WHAT THEY WERE
PROPOSING.
ALL OF THIS WORKED TOGETHER TO
CHALLENGE OUR DECISION ABOUT
WHAT SHOULD BE COVERED.
BECAUSE IT SEEMED TO BE THAT A
SPECIFIC CLINICAL SITUATION SUCH
AS A CRITICALLY ILL BABY WHERE A
GENETIC BASIS IS PROBABLY THE
CAUSE THAT THE BABY IS LANGE LAN
LANGUISHING IN THE INTENSIVE
CARE, HAVING AN EFFECT ON
DECISION-MAKING.
SO WITH ALL THAT IN MIND, WE
CAUTIOUSLY STEPPED FORWARD AND
DECIDED THIS WAS AN AREA THAT WE
THOUGHT WAS NECESSARY AND WE
DECIDED TO COVER.
>> THAT'S FANTASTIC.
IN TERMS OF REALLY HOW DOES THIS
IMPACT HEALTH DISPARITIES AND
EQUITY?
I THINK THAT WAS PART 2 OF MY
QUESTION.
IN GENERAL I DON'T SEE A
PREDETERMINED ROLE FOR A PAYOR
IN THIS AREA.
THE HEALTH DISPARITIES AND
TRYING TO ACHIEVE EQUITY IS A
COMPLICATED MULTIFACETED AREA
THAT REALLY NEEDS THE -- MANY
PEOPLE NEED TO BE AT THE TABLE.
ESSENTIALLY IT LIKE A PUBLIC
HEALTH NEED.
AND SO KEEP THAT IN MIND.
BUT MORE SPECIFICALLY AS BEING A
PAYOR, THE POINT WAS MADE THAT
GENETIC TESTING IS EXPENSIVE.
IT IS COSTLY.
SOME OF THAT COST HAS GONE DOWN
BUT IT STILL REMAINS A
SIGNIFICANT INVESTMENT.
AND SO AS A PAYOR, WHAT WE
PROVIDE IS EXCESS.
I THINK COSTS CAN DIRECTLY BE
RELATED TO AXE SES ACCESS, DIRECTLY
RELATED TO HET HEALTH DISPARITIES
AND INTERFERENCE WITH ACHIEVING
EQUITY.
>> MY APOLOGIES FOR CUTTING OFF,
I WANT TO MAKE SURE WE GET TO
ALL OF THESE QUESTIONS.
ACTUALLY I'M GOING TO WANT THE
PANEL TO BE INVOLVED WITH THIS
NEXT QUESTION BECAUSE IT
ACTUALLY TOUCHES ON THE WHOLE
DISPARITIES ISSUE SOME MORE.
WHICH IS THAT OBVIOUSLY MANY
PATIENTS IN MICHIGAN, AND THIS
IS TRUE FOR OTHER STATES AS
WELL, THAT THEY MAY NOT LIVE
ANYWHERE NEAR AN ACADEMIC
MEDICAL CENTER OR OTHER
FACILITIES THAT MAY PROVIDE
ACCESS TO GEE NE TICK GENETIC SEQUENCING.
MICHIGAN HAS A LOWER AND AN
UPPER PENINSULA.
SO WHAT ROLES HAVE PAYORS AND/OR
PROVIDERS PLAYED IN HELPING TO
ENSURE THAT PATIENTS IN
UNDERSERVED SETTINGS STILL HAVE
ACCESS TO WORLD CLASS CARE?
>> WELL, I THINK I CAN GIVE A
BRIEF ANSWER TO THAT THAT PLAYS
A PART IN THIS.
I THINK THE ADVENT OF TELEHEALTH
AND TELEHEALTH
AND TECHNOLOGY IN THAT REALM HAS
HAD BENEFIT HERE, AND HAS WHAT I
WOULD SAY LEVELED THE PLAYING
FIELD SO THERE IS UNIVERSAL
ACCESS.
BLUE CROSS/BLUE SHIELD MICHIGAN
HAS LONG BEEN A SUPPORTER OF
TELEMEDICINE EVEN PRIOR TO THE
PANDEMIC, AND THEN THE PANDEMIC
REALLY EXPOSED THE NEED FOR A
DIFFERENT DELIVERY OF CARE THAT
COULD OVERRIDE THESE ISSUES THAT
THE PANDEMIC BROUGHT OUT AND SO
WHEN WE HAVE SOMEONE WHO LIVES
IN THE UP AND WE MAY NOT HAVE
ACCESS OR THE
ACCESS OR THE HOSPITAL THE CHILD
IS ADMITTED TO, MAY NOT HAVE
ACCESS TO GENETICIST OR
ESSENTIALLY HAVE ACCESS TO
DR. BUPP.
WHAT CAN WE DO TO ALLOW THEM
THAT INPUT THAT WILL POTENTIALLY
LEAD TO A DIAGNOSIS OR LEAD TO A
CHANGE IN MANAGEMENT THAT IS SO
IMPORTANT IN THE CARE OF THAT
CHILD.
SO I THINK HAVING A VIRTUAL
BEDSIDE EVALUATION, WHICH IS
SOMETHING WE TOTALLY SUPPORT AND
COVER, IS PART OF WHAT WE CAN DO
AND ARE DOING TO PROVIDE WORLD
CLASS CARE THROUGHOUT MICHIGAN
STATE.
>> IN THE STATE OF MICHIGAN, THE
MAJORITY OF CENTERS THAT CARE
FOR KIDS DON'T HAVE ON-SITE
GENETIC PROFESSIONALS.
LIKE LYNNE SAID, TELEMEDICINE IS
A FANTASTIC SOLUTION THERE BUT
THE TELEPHONE IS STILL ANOTHER
WAY TO JUST TALK TO SOMEBODY AND
PHYSICIAN TO PHYSICIAN TALK
THROUGH A CASE, THIS IS WHAT I'M
SEEING, I'M THINKING ABOUT THIS.
YOU CAN GET A LOT DONE THERE.
I THINK THE QUESTION OF PAYOR
COVERAGE, THOUGH, IS KEY FOR
CENTERS THAT AREN'T AS
COMFORTABLE WITH USING GENETIC
TESTING LET ALONE RAPID GENOME
SEQUENCING FOR THESE KIDS THAT
IT IS A NO-BRAINER THAT RAPID
GENOME SEQUENCING IS GOING TO
MAKE A CLINICAL DIFFERENCE FOR
THEM.
BECAUSE AS A CLINICIAN IF YOU
THINK IT'S THE RIGHT THING TO
DO, BUT IT'S NOT GOING TO GET
PAID FOR, YOU'RE GOING TO GET
PUSHBACK FROM YOUR HOSPITAL OR
YOUR LAB, THAT KIND OF ENDS THE
CONVERSATION SO HAVING THE
COVERAGE POLICY HAS REALLY HOPED
OPENED THE DOOR.
WE HAVE A LOT OF STUFF TO FIGURE
OUT ON THE BACK END.
WE NEED TO MAKE SURE PROVIDERS
ARE EDUCATED THAT WE'RE DOING IT
ON THE RIGHT PATIENTS, THERE'S A
LONG WAY TO GO, BUT FOR ME ON
THE CLINICAL SIDE, HAVING THIS
COVERAGE PIECE START TO GET
SORTED OUT, IT'S A GAME CHANGER.
>> I HAVE TO SAY ONE OF THE
THINGS I'VE BEEN ALWAYS VERY
PROUD OF THE FIELD OF GENETICS
IS THAT REALLY FROM THE VERY
BEGINNING THAT THERE WAS THIS
COMMITMENT TO OUTREACH CLINICS
IN DIFFERENT STATES BECAUSE AS
YOU POINTED OUT, VERY FEW
GENETIC PROVIDERS ACROSS THE
COUNTRY, MORE LOCALIZED IN MAJOR
CITIES, I THINK WHEN I GAVE YOUR
INTRODUCTION I HAD TO LIST THREE
DIFFERENT HOSPITALS THAT YOU ARE
INVOLVED WITH IN GENETICS AND
LIKE I SAY, I'M VERY PROUD HERE
IN MICHIGAN THAT WE'VE HAD
OUTREACH CLINICS FOR OVER 40
YEARS.
BUT ANYTHING ELSE ANYONE WANTS
TO SAY ABOUT KIND OF ADDRESSING
SOME OF THE EQUITY AND DISPARITY
ISSUES?
>> I'LL JUST QUICKLY SAY THAT
EVEN BEFORE WE HAD THE FUNDING
SECURED, ALL OF THE HOSPITALS WE
COULD THINK OF THAT WOULD BE
POTENTIAL SITES FOR INITIATING
GENETIC TESTING.
I THINK WE HAVE 12 OR 14 IN THE
ROOM.
SO -- AND THEN I THINK ONE OF
THE THINGS THAT CAME OUT OF THAT
CONVERSATION WAS NOT ONLY ARE WE
INTERESTED IN BEING IN THIS ROOM
TOGETHER, BUT THAT THERE ARE
OTHER PLACES THAT NEED, LIKE YOU
JUST SAID, DR. UHLMANN, THERE
ARE OTHER PLACES THAT NEED THIS
EXPERTISE, LET'S FIGURE OUT HOW
TO SPREAD THAT FURTHER.
NOT LONG AFTER THAT, WE HAD THE
WORLD OF THE PANDEMIC EXPLODE,
SO I THINK SOME OF THAT -- WE
HAVEN'T FOLLOWED UP ON THAT BUT
I KNOW THAT THE INTEREST IS OUT
THERE SHARING HOW TO RESPOND TO
THIS AND THE PREVIOUS PANEL
SHARED THERE'S A LOT MORE TO --
WHEN WE FIND OUT WHAT'S GOING ON
WITH THE GENETICS IN YOUR CHILD,
YOU'RE FINDING OUT A LOT ABOUT
YOUR ENTIRE FAMILY.
>> JUST ONE POINT TO ADD JUST
FROM A MEDICAID PERSPECTIVE,
WHEN WE FIRST STARTED TALKING
ABOUT THIS IN THE MEDICAID
PROGRAM, I DON'T THINK THE BLUE
CROSS COVERAGE POLICY, I THINK
IT WAS IN PROCESS AND NOT
NECESSARILY FULLY RELEASED YET,
SO QUITE CANNED QUITE CANDIDLY -- THOSE T HAT
HAVE FINANCIAL ABILITY TO PAY
FOR THEM SM THEMSELVES AND MORE
LIKELY FOR THE MEDICAID
POPULATION, THAT'S NOT GOING TO
HAPPEN.
THAT'S FROM THE PERSPECTIVE OF
WANTING TO PUT THE MEDICAID
POPULATION IN A LITTLE BIT MORE
EQUAL FOOTING WITH PRIVATE PAY.
I THINK IT'S WONDERFUL THAT THE
BLUES HAVE STEPPED FORWARD, BUT
THAT DID FACTOR INTO OUR
THINKING ON THE FRONT END AS
WELL.
>> SO WE'VE BEEN FOCUSING KIND
OF COVERING THE COST OF CLINICAL
GENOMICS SEQUENCING AND I WANTED
TO PIVOT A LITTLE BIT TO THE
FACT THAT WHILE GETTING A
DIAGNOSIS CAN CERTAINLY BE LIFE
CHANGING FOR FAMILIES, IT'S
OFTEN THE FIRST STEP ON ANOTHER
JOURNEY TOWARDS GETTING
EFFECTIVE TREATMENT.
SO HOW CAN PAYORS AND PROVIDERS
HELP ENABLE COMPREHENSIVE CARE
FOR PATIENTS, INCLUDING ACCESS
TO GENETIC COUNSELING, TO
SPECIALISTS OR TO OTHER
HEALTHCARE PROVIDERS, TO ENSURE
THAT PATIENTS ARE REALLY REAPING
THE FULL BENEFITS OF GETTING A
GENETIC DIAGNOSIS.
>> WENDY, YOU TALKED ABOUT
GETTING TO TREATMENT.
I WANTED TO EMPHASIZE YOU HAVE
TO KNOW WHAT YOU'RE TREATING TO
GET THE RIGHT TREATMENTS.
I'LL GIVE A SHOUT OUT TO GENETIC
COUNSELORS.
THEY, I THINK WERE TALKED ABOUT
EARLIER, I CAN'T REMEMBER THE
TERM THAT WE USED, BUT THEY'RE
THE BEST, AND THEY REALLY KIND
OF HOLD THINGS TOGETHER.
MICHIGAN IS IN THE PROCESS OF
LICENCING GENETIC COUNSELORS.
A HUGE STEP FORWARD.
THERE'S SOME NATIONAL WORK ABOUT
CMS RECOGNIZING GENETIC
COUNSELORS AS PROVIDERS BECAUSE
THEY DO HAVE THAT EXPERTISE TO
EXPLAIN, TO TALK, AND TO REALLY
HELP FAMILIES UNDERSTAND AND
PROCESS THE INFORMATION.
LAURA AND I HAVE TALKED A LOT
OVER THE YEARS ABOUT THE FAMILY
ASPECT OF THIS, AND YOU ARE
GIVING CARE TO A SICK KID, YOU
ARE GIVING CARE TO THOSE PARENTS
TOO, BECAUSE THEY WANT TO KNOW
WHAT'S THE CHANCE THIS HAPPENS
AGAIN, DID I DO THIS, DID I DO
SOMETHING WRONG, AND THOSE ARE
IMPORTANT ASPECTS TO REMEMBER
ABOUT THE HOLISTIC CARE THAT
WE'RE ABLE TO GIVE, LET ALONE
GETTING ACCESS TO TREATMENTS.
THERE ARE GENE THERAPIES NOW,
THERE ARE MORE GENE THERAPIES
COMING, THERE ARE TARGETED
TREATMENTS, THE ABILITY TO
REPURPOSE DRUGS, BUT YOU CAN'T
DO ANY OF THAT UNLESS YOU KNOW
WHAT YOU'RE ACTUALLY TREATING.
>> LYNNE AND BRIAN OR LAURA, ANY
COMMENTS ON THAT QUESTION JUST
IN TERMS OF BEING ABLE TO COVER
THE TREATMENT ONCE THE GENETIC
DIAGNOSIS HAS BEEN MADE?
>> I'D JUST SAY, AND I THINK
BRIAN AND I ARE VERY MUCH ON THE
SAME PAGE HERE AND PROBABLY
DR. CARTER TOO, THROUGHOUT THIS
PROCESS, IT HAS BEEN VERY
IMPORTANT TO MHA REPRESENTING
THE COVERAGE EXPANSION THAT --
COVERAGE FOR SOMETHING THAT'S
TRULY EFFECTIVE, AND SO IT'S NOT
NECESSARILY THAT WE'RE SAYING WE
ONLY THINK THIS IS VALUABLE IF
IT'S GOING TO SAVE MONEY.
WE WANTED THERE TO BE -- WANTED
TO BE CLEAR THAT IT IS
PRODUCTIVE.
SO ARE YOU HAVING A CHANGE IN
MANAGEMENT, ARE YOU EXPLAINING
TO FAMILIES WHAT'S GOING ON, ALL
OF THOSE THINGS, AND SO I THINK
THAT IT'S NOT JUST A MATTER OF
GETTING PAYMENT, IT'S MAKING
SURE THAT WE ARE DOING THE RIGHT
PAYMENT POLICY FOR THE THINGS
THAT GO ALONG WITH THIS.
I THINK WE'RE ALL TRYING TO BE
VERY GOOD STEWARDS OF THIS
OPPORTUNITY, AND BECAUSE I THINK
WE ALL FEEL LIKE IF IT JUST
BECOMES A, WELL, WE JUST START
TESTING ALL CHILDREN FOR -- TEST
ALL CHILDREN FOR EVERYTHING, WE
MIGHT LOSE THE FAITH IN WHAT WE
WERE PURSUING.
SO I GUESS IT NOT EXACTLY A
RIGHT ON TARGET ANSWER TO YOUR
QUESTION, BUT I JUST WANTED TO
PUT THAT OUT THERE AS YOU WERE
SEEING A LOT OF THINGS AT FDA
RIGHT NOW, AND IS THIS DRUG
REALLY EFFECTIVE, AND ILT NOT AN
EASY ANSWER, BUT WE ARE TRYING
TO STAY ON THE RIGHT SIDE OF
THAT ANSWER, I GUESS, WITH THIS
EFFORT.
>> I AGREE WITH YOU VERY MUCH,
LAURA, IN YOUR COMMENTS.
I THINK THERE'S THE ONGOING
PIVOT FROM KIND OF A FEE-BASED
HEALTHCARE SYSTEM TO A
VALUE-BASED HEALTHCARE SYSTEM.
AND WE'VE DONE MANY THINGS IN
THAT AREA, NOT SPECIFIC TO WHAT
WE'RE TALKING ABOUT, CHILDREN
WITH RARE DISEASES OR INFANTS
WITH RARE DISEASES THAT ARE
GENETICALLY BASED, BUT IN OTHER
WAYS, AND WE'RE RECOGNIZING THE
IMPORTANCE OF HAVING KIND OF A
PATIENT-CENTERED, CENTER-BASED
CARE WHERE THE PROVIDER IS
LOOKING FORWARD AND THEY'RE
LOOKING FOR INVOLVING
DECISION-MAKING THAT LOOKS AT
QUALITY, AND WE INCENTIVIZE
MAKING DECISIONS BASED ON
QUALITY AND EFFICACIOUS
DECISIONS.
SO WE ALL WIN WHEN THAT HAPPENS.
BECAUSE WE ALL KNOW THERE ARE
LIMITED RESOURCES AND WE WANT TO
GO WHERE WE GET THE MOST BANG
FOR OUR BUCK.
I HATE TO RELY ON CLICHES, BUT
IN THIS SITUATION, I THINK, YOU
KNOW, IT SAYS WHAT IT NEEDS TO
SAY.
AND THERE MUST BE VALUE, AND WE
SEE THE VALUE IN THE TESTING,
AND WE SEE THE VALUE IN THE
MANAGING THAT DIAGNOSIS TO THE
BEST END POSSIBLE.
>> BRIAN, YOUR THOUGHTS IN TERMS
OF COVERING TREATMENT, WHERE
SOMETIMES MEDICATIONS CAN BE,
FOR INSTANCE, IN THE THOUSANDS
OF DOLLARS WITH PATIENTS THAT
HAVE MEDICAID COVERAGE?
>> I DON'T KNOW I HAVE A LOT TO
ADD BEYOND WHAT THE PANEL HAS
ALREADY SAID.
WE DO IT PRETTY EFFECTIVELY IN
THE MEDICAID PROGRAM.
ONE OF THE THINGS THAT WE END UP
DOING IS ACTUALLY NOT TERRIBLY
DISSIMILAR TO THIS, THAT SOME OF
THE MORE EXPENSIVE DRUGS, WE
ACTUALLY CARVE OUT OF THE
MEDICAID HEALTH PLANS AND PAY
FOR THOSE ON A FEE FOR SERVICE
BASES TO MAKE SURE WE HAVE
ACCESS AND DON'T HAVE ISSUES
WITH THOSE PROVIDING THOSE
DRUGS.
I DON'T HAVE A WHOLE LOT MORE TO
ADD.
SO THANK YOU.
>> AND SO AFTER THIS IS GOING TO
BE TO BRIAN AND LYNNE.
IT LOOKS LIKE IT'S A FOUR-PART
QUESTION.
SO I WILL LET YOU, AGAIN, DECIDE
WHAT ORDER TO ANSWER IT IN.
SO NOW THAT WE HAVE COVERAGE
POLICIES IN PLACE FOR
SEQUENCING, HOW IS IT GOING?
AND I THINK WE'VE HEARD SOME OF
THIS A LITTLE BIT AS WE'VE BEEN
GOING ALONG TOO.
BUT THE KEY ONE HERE IS, ARE
THERE ANY CHALLENGES THAT YOU
WANT TO HIGHLIGHT FOR OTHER
STATES AND/OR PAYORS WHO MAY BE
CONSIDERING CRAFTING A COVERAGE
POLICY IN THIS SPACE AND AS WE
SPEAK HERE ABOUT CHALLENGES,
WHAT ABOUT SOLUTIONS?
WERE THERE SOLUTIONS THAT YOU
DEPLOYED TO MEET THOSE
CHALLENGES, AND THEN LASTLY IS,
IS THERE ANY ANALYSIS, POST
COVERAGE ANALYSIS BEING
CONDUCTED TO ASSESS THE IMPACT
OF COVERAGE AND ANY ONGOING
ISSUES?
>> DR. CARTER, DO YOU WANT TO GO
FIRST OR DO YOU WANT ME TO?
I CAN GO FIRST IF YOU'D LIKE.
>> GO ON, BRIAN.
>> OKAY.
IT'S FINE.
OKAY.
SO YOU KNOW, WE'RE ABOUT A YEAR
IN.
IT'S RELATIVELY EARLY YET JUST
FROM TAKING THE LONG VIEW.
BUT I WOULD SAY THINGS ARE GOING
RELATIVELY WELL OVERALL IN TERMS
OF AUTHORIZATION.
I HAVE A FEW NUMBERS HERE.
THROUGH LAST MONTH, WE HAVE 35
APPROVALS FOR THE TESTS, WE HAVE
FIVE DENIALS AND SEVEN THAT HAVE
BEEN RETURNED FOR ADDITIONAL
INFORMATION, SO JUST -- THAT
GIVES YOU SOME FEEL FOR THE
VOLUME WE'RE LOOKING AT.
WHICH IS REALLY KIND OF ON PAR
WITH WHAT WE THOUGHT.
THERE IS A LEARNING CURVE ON THE
PAYMENT SIDE, SO PRACTITIONERS
HAVE SUBMITTED AUTHORIZATIONS,
WE'VE WORKED THROUGH THOSE AND
THEN WE SORT OF STALLED ON
ACTUALLY MAKING THE PAYMENTS.
WHAT I WOULD SAY IS WE WILL GET
THERE, BUT THE LESSON LEARNED IS
THAT WE STRUCTURED SOMETHING A
LITTLE DIFFERENT THAN WHAT
NORMALLY HAPPENS WITH HOSPITAL
REIMBURSEMENT AND THAT WE WOULD
PULL THIS OUT OF THE HOSPITAL'S
NORMAL PAYMENT, HAVE A
PROFESSIONAL CLAIM SO THEY CAN
PAY THAT SEPARATELY.
CMS WAS INCREDIBLY SUPPORTIVE,
APPROVED OUR PROPOSAL QUICKLY,
THE POLICY WENT THROUGH, WAS
SUPPORTED BY PRACTITIONERS AND
THOSE ON THE GROUND, BUT I THINK
THE LESSON THERE IS THAT IF
YOU'RE DOING SOMETHING THAT'S
DIFFERENT THAN THE NORM FROM A
PAYMENT PERSPECTIVE AND IT'S
ALSO FAIRLY RARE, THAT THERE'S A
LEARNING CURVE REQUIRED AND WE
HAVE BEEN COORDINATING AND MORE
COORDINATION -- WE'LL GET
THROUGH IT AND WE'LL FIGURE THAT
PART OUT, BUT I DON'T KNOW
THAT -- I DON'T KNOW THAT I
ANSWERED ALL FOUR OF YOUR
QUESTIONS BUT THOSE ARE MY --
THOSE ARE MY PRELIMINARY
THOUGHTS.
>> ANY ANALYSIS THAT'S BEING
DONE ON THE BACK END, TO TRY TO
ASSESS THE IMPACT OF COVERAGE
AND ONGOING ISSUES, DID YOU SAY?
>> IT'S A LITTLE BIT EARLY FOR
THAT SO WE'RE KIND OF
PRELIMINARY IN THOSE REVIEWS TO
BE CANDID.
>> APPRECIATE CANDID.
WELL, SO LYNNE, YOUR THOUGHTS.
>> I AGREE WITH YOU, BRIAN, IT'S
A BIT EARLY TO DIVE INTO ALL OF
THOSE QUESTIONS.
ONE ASPECT OF THE BABY DEER
PROJECT THAT HAS BEEN REALLY
ENLIGHTENING FOR US IS TO
PARTICIPATE IN THE MONTHLY CALLS
WHERE PRACTITIONERS FROM AROUND
THE STATE BASICALLY DISCUSS
CASES, AND THEY DISCUSS FROM
WHAT I REMEMBER DOING IN
RESIDENCY, WHICH IS PRESENTING
THE CASE, AND THEN ALSO TALKING
ABOUT THE TESTING, THE RESULTS
OF THE TESTING, WAS THAT THAT
THE RIGHT DECISION AND WHAT DID
THE RESULTS LEAD THEM TO.
SO AS I AND MY COLLEAGUES HAVE
LISTEN TODAY THESE DISCUSSIONS,
IT DOES DEMONSTRATE THE
IMPORTANCE OF WHAT THIS TESTING
IS DOING AND THOSE VERY
PRESCRIBED SITUATIONS, AND IT
ALSO REMINDS ME THAT WHEN WE
WERE FIRST LOOKING AT PROJECT
DEER, THE DOCUMENTS THAT WERE
AVAILABLE, THEY SPOKE TO DOING
AN ANALYSIS AFTER A PERIOD OF
TIME, REALLY STEPPING BACK AND
LOOKING AT THE DATA TO SHOW WHAT
THE DATA SHOWS, AND THEN AFTER A
FEW MORE YEARS, LOOKING AT THE
DATA TO SEE THE IMPACT ON HEALTH
COST SAVINGS OR DIFFERENT AREAS,
AND I KNOW THAT WAS AN
IMPORTANT -- OF INTEREST TO US,
AND I THINK THAT WILL CONTINUE
TO BE OF INTEREST TO ANYONE, AND
IT REALLY HARKENS BACK TO WHAT
WAS SAID IN THE FIRST SESSION,
WHERE THE GENERATION OF DATA IS
CONSEQUENTIAL TO MOVING FORWARD.
AND SO I THINK IN TERMS OF
RECOMMENDATIONS TO OTHER PARENTS
WHO MAY BE CONSIDERING THIS, THE
PROMISE OF THAT IS GOOD.
HEARING ABOUT THE CAUSE ON KIND
OF THAT IMPLEMENT TALL LEVEL HAS
BEEN GOOD, BUT WE ARE WAITING
FOR THE WHOLE PICTURE TO DEVELOP
AND TO BE PROVIDED AS WE SIT
BACK AND LOOK AT OUR DECISION.
>> THANKS FOR BRINGING UP THAT
CASE REVIEW, LYNNE.
IT'S SOMETHING THAT WE DID FROM
THE BEGINNING, ONCE A MONTH,
ROTATING BETWEEN DIFFERENT
HOSPITAL, AND WE TRIED TO PROMPT
PEOPLE TO SAY LIKE WHAT WERE YOU
THINKING?
ASK PEOPLE TO BE AS TRANSPARENT
AS POSSIBLE, AND THEN TO TALK
THROUGH, SHOULD I HAVE DONE
SOMETHING DIFFERENT, AND AGAIN,
THOSE HAVE BEEN OPEN TO
PROVIDERS, PAYORS, AND IT OPEN
TO ANYBODY BECAUSE IT REALLY
HELPS SORT OF START THAT
DIALOGUE AND HELPS THAT IRON
SHARPENS IRON TYPE APPROACH.
>> CALEB, YOU MENTIONED THOSE
ARE OPEN, DO PEOPLE JUST
CONTACT, HOW DO PEOPLE --
>> YEP, THEY CAN REACH OUT TO
THE MHA, THEY CAN REACH OUT TO
ME.
WE DO THEM EVERY MONTH.
WE'RE GOING TO BE PLANNING TO DO
A TOWN HALL IN OCTOBER TO KIND
OF REPORT OUT FROM EACH
DIFFERENT HOSPITAL ABOUT HOW HAS
THE FIRST YEAR GONE FOR YOU.
WE KNOW THAT THERE ARE
CHALLENGES AND WE'RE NOT TRYING
TO BE SHY ABOUT THAT, BUT IT IS
KIND OF THAT ABILITY TO LEARN
FROM EACH OTHER, BECAUSE EVERY
BABY THAT GOES THROUGH THIS
TEACHES YOU SOMETHING DIFFERENT.
EVERY TIME I FEEL LIKE, ALL
RIGHT, WE FINALLY GOT THIS DOWN,
THE NEXT BABY AND FAMILY COMES
ALONG AND WE'RE LIKE, HOW DID WE
NOT THINK OF THAT?
SO IT'S JUST AN EVOLVING
PROCESS, BUT I GUESS THAT IS
RARE DISEASE SOMETIMES.
>> IT SEEMS LIKE THAT COULD BE
HELPFUL POTENTIALLY TO PEOPLE IN
OTHER STATES THAT ARE THINKING
ABOUT PUTTING SOMETHING LAKE
THIS TOGETHER.
I THINK IT FAIR TO SAY WE'RE
STRONGER TOGETHER WHEN WE CROWD
SOURCE OUR KNOWLEDGE AND ARE
ABLE TO -- IT'S IMPORTANT TO
ADMIT WHAT WE KNOW BUT TO ADMIT
EVEN MORE IMPORTANTLY WHAT WE
DON'T KNOW.
>> DO YOU YOU THINK THIS -- CALEB,
WHO THIS SHOULD BE DIRECTED
TOWARDS, THAT WILL BE CONTINUED
TO LOOK AT OR REFINE?
>> I THINK SO, BECAUSE WHEN I
PRESENTED CASES AT OUR MICHIGAN
REVIEW, I TRIED TO PICK ONES
WHERE LIKE, MAN, WAS THIS THE
RIGHT THING TO DO?
WE'VE HAD A COUPLE OF KIDS THAT
WERE TEENAGERS THAT WE'VE USED
WHOLE GENOME SEQUENCING ON, AND
WE FOUND SOMETHING.
SO IT'S JUST LIKE, HEY, THIS WAS
DIFFERENT OR -- SO AGAIN, EVERY
CHANCE YOU GET TO TRY TO REFINE
THINGS A LITTLE BIT BECAUSE I
STILL DON'T THINK WE LANDED ON
THE RIGHT POPULATION FOR TESTING
FOR COVERAGE.
WE'RE STILL IN EARLY DAYS SO
THIS IS AN EXCITING TIME OF
LEARNING.
>> AND I THINK AS YOU BOTH
POINTED OUT, WE'RE BARELY A YEAR
INTO THIS IN THE STATE OF
MICHIGAN.
AS WELL.
SO STAY TUNED.
SO BRIAN ACTUALLY GETS THE LAST
QUESTION BEFORE EVERYONE ON THE
PANEL GETS TO ANSWER A QUESTION.
SO BRIAN IS JUST GOING A LITTLE
DEEPER INTO THE ISSUE ABOUT
COVERAGE.
BECAUSE SOME STATES HAVE ELECTED
TO BUNDLE PAYMENT FOR THIS
SERVICE, SO IN OTHER WORDS, IN
TERMS OF COVERING THE WHOLE
RAPID WHOLE GENOME SEQUENCING,
SO SOME ARE BUNDLING IT AS PART
OF A FLAT FEE BASED ON
DIAGNOSIS.
WHILE OTHER STATES HAVE CREATED
A SEPARATE CODE OF REIMBURSEMENT
FOR SERVICES AND CAN YOU SPEAK A
LITTLE MORE HOW MICHIGAN
MEDICAID HAS ADDRESSED THIS?
>> SURE.
I THINK I ALLUDED TO IT A LITTLE
BIT IN MY LAST ANSWER, BUT WE
ARE PAYING FOR IT SEPARATELY.
AS A PROFESSIONAL FEE SCHEDULE,
THERE'S A COUPLE DIFFERENT CODES
THAT WE REIMBURSE.
THE ONE THING I WOULD NOTE,
WE -- THE DEPARTMENT ARE PAYING
FOR THIS ON A FEE FOR SERVICE
BASIS REGARDLESS OF THE FACT
THAT ALMOST ALL -- AND IN
MICHIGAN, WE DO COVER OUR -- AT
LEAST OUR INITIAL STEP IS TO
COVER THROUGH AGE 1.
BUT NEARLY ALMOST ALL OF THOSE
BABIES ARE IN A MEDICAID HEALTH
PLAN, SO THIS DOESN'T INCREASE
THE HEALTH PLAN'S LIABILITY.
IT'S JUST THE HEALTH PLAN WOULD
BE PAYING FOR THE HOSPITAL STAY,
BABIES IN THE NICU ARE GENERALLY
WHAT'S OCCURRING FOR US SO FAR.
BUT OUTSIDE OF THAT, THE
DEPARTMENT WILL BE PAYING FOR
THIS ON A FEE FOR SERVICE BASIS
DIRECTLY TO THE HOSPITAL.
>> THANK YOU FOR THAT ANSWER,
BRIAN.
AND IN IN THE COUPLE MINUTES WE
HAVE LEFT HERE, I'M GOING TO
THROW OUT SHORT RESPONSE
QUESTIONS FOR EVERYONE TO TAKE A
CRACK AT, WHICH IS, WHAT CLOSING
ADD VASE WOULD YOU OFFER TO
PATIENTS, PAYORS OR OTHER
STAKEHOLDERS WHO WANT TO ADVANCE
EQUITY AND ACCESS TO CLINICAL
SEQUENCING?
SOME I KNOW HAVE GIVEN THAT IN
YOUR ANSWERS BUT IF YOU'RE
RIDING UP THAT ELEVATOR WITH
SOMEONE, WHAT WOULD YOU WANT TO
QUICKLY SAY WITH THEM?
>> I GUESS I WOULD SAY IT TAKES
A VILLAGE.
TO BOTH DEFINE EQUITY AND TO
ADVANCE EQUITY, ESPECIALLY
WITHIN THE GENOMIC SPACE.
WE NEED PARTICIPATION FROM
MULTIPLE ENTITIES AND I THINK
WE'RE SEEING THAT HERE.
IT'S BEYOND JUST WHAT A PAYOR
CAN DO.
IT'S A GROUP ACTIVITY.
THE IMPORTANCE OF DATA IN
UTILITY REMAINS THE DRIVING
FORCE THAT WILL PROPEL CHANGE IN
THIS AREA.
AND LEADERSHIP COMES FROM ALL
AREAS FROM BOTH THE PRIVATE
SECTOR AND FROM THE PUBLIC
SECTOR AND THE GOVERNMENT.
>> I CAN ADD ON TO THAT.
TALK ABOUT IT TONIGHT AT DINNER,
RIGHT, TALK ABOUT IT WITH YOUR
BOSS, WITH YOUR TEAM.
THIS IS COOL STUFF.
THIS IS CHANGING HEALTHCARE.
AND NO MATTER WHAT YOUR ROLE IN
ALL OF THIS IS, WE ALL HAVE A
GENOME, WE ALL HAVE ERRORS IN
IT, AND SOMETIMES IT MANIFESTS
AS DISEASE, AND WHAT A WONDERFUL
THING THAT WE CAN FIND IT AND DO
THINGS ABOUT IT NOW.
SO I THINK JUST CONTINUING TO
HAVE THIS BE PART OF OUR
CONVERSATION IN HEALTHCARE,
HEALTHCARE POLL SEAL AND RARE
DISEASE POLICY AND RARE
DISEASE IS CRUCIAL TO MOVING THE
NEEDLE FORWARD.
>> BRIAN?
>> BOY, IT'S HARD TO FOLLOW
THOSE TWO.
I DON'T KNOW I HAVE A LOT MORE
WISDOM TO IMPART OTHER THAN
COLLABORATION WORKS HERE AND
ESPECIALLY ON SOMETHING AS KIND
OF CUTTING EDGE AS THIS.
SO COLLABORATE WITH PEOPLE IN
THE FIELD THAT HAVE PASSION AND
KNOW WHAT THEY'RE DOING.
>> AND BEING ABLE TO LEARN FROM
EACH OTHER, RIGHT?
>> YES.
>> LAURA.
>> I JUST WANT TO POINT OUT, FOR
THOSE -- I HOPE PEOPLE CAN SEE,
I CHANGED MY NAME ON THE SCREEN
TO MY EMAIL ADDRESS, SO IF
PEOPLE ARE LOOKING FOR A
CONNECTION TO OUR MONTHLY CASE
REVIEW, JUST REACH OUT TO ME BY
EMAIL ANDLY FIGURE OUT WHO CAN
GET -- I WILL FIGURE OUT WHO CAN
GET THAT TO YOU FROM OUR
ORGANIZATION.
AND MY CLOSING COMMENT IS, YOU
KNOW, I LEARNED A LITTLE BIT OF
SOMETHING AS WE WENT ALONG WITH
THIS, AND SO MY ADVICE IS TO
THOSE WHO ARE PURSUING THIS IS
MAYBE -- I'M GOING TO SAY -- I
DON'T FEEL LIKE WE WERE
OVERSELLING IT, BUT I WENT INTO
THIS THINKING WE WERE GOING TO
HAVE THIS A LOT OF MIRACLES, A
LOT OF LIKE, IF WE JUST KNEW
ABOUT THIS GENETIC THING, THIS
VERY ILL CHILD, THERE'S GOING TO
BE THIS REALLY GREAT OUTCOME.
AND A LOT OF THE OUTCOMES AREN'T
GREAT.
AND SO I JUST WANT TO -- I GUESS
PREPARE YOURSELF FOR THE GOOD
NEWS IS THAT EVERYBODY SEEMS TO
GET A LOT OF COMFORT FROM THIS.
BUT ON THE OTHER SIDE OF IT IS,
YOU KNOW, THERE ARE A LOT OF --
A LOT OF THINGS GOING TO THE
LIBRARY, LIKE DR. KORF SAID,
WHERE EVERY TIME WE FIND
SOMETHING OUT, WE GET TO -- WE
PUT IT IN THE FILE AND YOU FIND
A LOT OF KIDS THAT MAYBE SHARE
THAT CIRCUMSTANCE OR SOMEBODY
WILL LEARN FROM IT NEXT TIME.
BUT IT MIGHT BE THAT THOSE
CHILDREN THAT WE FIND THAT OUT
ABOUT DON'T HAVE A GREAT
OUTCOME, AND I WAS REALLY KIND
OF TAKEN ABACK, I GUESS, WITH
HOW MANY OF THOSE TIMES THAT
THAT HAPPENED, AND SO JUST MAYBE
KIND OF BE AWARE OF THAT AS
YOU'RE WORKING ON THIS.
IT'S NOT THAT IT'S BAD.
IT'S JUST THAT IT'S NOT --
THEY'RE NOT ALL MIRACLES, AND I
GUESS I KIND OF HAD THAT -- I
KIND OF WAS A LITTLE UNPREPARED
FOR ALL THAT.
BUT I'M NOT A CLINICIAN, SO I
PROBABLY -- YOU KNOW, I WAS
PROBABLY OVERESTIMATING, BUT SO
JUST HAVE THAT IN THE BACK OF
YOUR MIND, I GUESS IS WHAT I'M
SAYING.
>> SO LAURA, AS YOU PUT YOUR
NAME UP THERE, MY UNDERSTANDING
IS THAT THERE ARE OVER 1300
ATTENDING TODAY, SO I HOPE YOUR
MAILBOX IS PREPARED TO HANDLE
WHAT COULD BE AN INFLUX OF --
>> THAT'S NO PROBLEM.
>> MHA HAS A WEBSITE FOR PROJECT
BABY DEER, CORRECT?
>> I'LL CHECK AND MAKE SURE WE
STILL HAVE EVERYTHING ALL UP TO
DATE.
>> WELL, I WANT TO THANK OUR
PANELISTS FOR THEIR WONDERFUL
INSIGHT AND KIND OF SHARING THE
ANSWERS TO THE QUESTIONS THAT WE
ARE ALL INTERESTED IN IN TERMS
OF HOW THIS IS DONE.
IT'S REALLY BEEN VERY
ENLIGHTENING AND WITH THAT I AM
ACTUALLY GOING TO TURN IT OVER
TO MAX BRONSTEIN AND ALSO JUST
AS I TURN IT OVER, JUST WANT TO
AGAIN THANK MAX AND THE
ORGANIZERS FOR THIS WONDERFUL
AFTERNOON THAT WE'VE HAD
TOGETHER HERE.
>> THANK YOU, WENDY, AND THANK
YOU TO OUR LAST PANEL OF
SPEAKERS.
SO LET ME AGAIN SAY THANK YOU TO
ALL OF OUR SPEAKERS WHO JOINED
TODAY AND FOR PARTICIPATING, AND
MY THANKS TO OUR AUDIENCE.
SO WE HAD AN AMAZING TURNOUT
TODAY, AS WENDY MENTIONED, WE
ACTUALLY HAD ABOUT 1300 PEOPLE
REGISTERED FOR THIS EVENT.
I ALSO HAVE TO SAY THANK YOU TO
THE NICHD AND OSTP STAFF THAT
HELPED MAKE TODAY'S EVENT
POSSIBLE, AND MANY OF YOU HAVE
ASKED IF THE EVENT WOULD BE
RECORDED AND INDEED IT WAS.
AND IT CAN BE FOUND ON THE NIH
VIDEOCAST WEBSITE AT THE LINK
BELOW, SO THANK YOU ALL AGAIN
FOR ATTENDING THE EVENT TODAY
AND HAVE A WONDERFUL AFTERNOON.
TAKE CARE.