Keystone Edition
Strides in Genomics
2/25/2021 | 27mVideo has Closed Captions
What strides have doctors in our area made in this field?
As scientists learn more about the human genome, the medical practice of genomics has emerged. Doctors practicing genomics can use a patient's genetic information to help inform and determine treatment plans. What strides have doctors in our area made in this field, and how does this impact the health of our region?
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Keystone Edition is a local public television program presented by WVIA
Keystone Edition
Strides in Genomics
2/25/2021 | 27mVideo has Closed Captions
As scientists learn more about the human genome, the medical practice of genomics has emerged. Doctors practicing genomics can use a patient's genetic information to help inform and determine treatment plans. What strides have doctors in our area made in this field, and how does this impact the health of our region?
Problems with Closed Captions? Closed Captioning Feedback
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Learn Moreabout PBS online sponsorship>> LIVE FROM YOUR PUBLIC MEDIA STUDIOS, WVIA PRESENTS A PUBLIC AFFAIRS PROGRAM THAT GOES BEYOND THE HEADLINES TO ADDRESS ISSUES AND NORTHEASTERN AND CENTRAL PENNSYLVANIA.
THIS IS KEYSTONE EDITION HEALTH, AND NOW OUR MODERATOR.
>> GOOD EVENING, AND WELCOME.
THANK YOU FOR JOINING US.
THE HUMAN GENOME PROJECT MAPPING OF GENES NOT ONLY HELPS HUMANS TO UNDERSTAND OUR DNA, BUT IS GIVING RISE TO NEW FIELDS THAT CAN HELP US LIVE HEALTHIER LIVES.
WE WILL LOOK AT LOCAL STRIDES MADE IN THE FIELD OF GENOMICS AND HOW THE EMERGING SCIENCE IS HELPING OUR RESIDENTS.
IF YOU HAVE A QUESTION, CALL 1-800-396-6292.
FIRST, WVIA'S PAULA WILL INTRODUCE US TO THE GROWING FIELD OF GENOMICS.
>> GENES, EACH CELL IN OUR BODY , AND A BUILDING BLOCK OF WHO WE ARE.
WHILE THE STUDY OF GENETICS FOCUSES ON INHERITANCE, GENOMICS SEEKS TO USE THE INFORMATION AS PART OF THEIR HEALTH CARE.
DOCTORS AND SCIENTISTS PRACTICING GENOMIC MEDICINE HOPE THAT THE PERSONALIZED APPROACH CAN IMPROVE THE TREATMENT OF DISEASE AND EVEN HELP PREVENT OR DETECT GENETIC DISEASES.
CANCERS CAN BE DETECTED THROUGH GENOMIC METHODS.
THROUGH THE CANCER SURVEILLANCE REPORTS, THE COUNTIES THAT MAKE UP NORTHEAST PENNSYLVANIA CONTINUE TO HAVE A STATISTICALLY HIGHER CASES OF TOBACCO AND LUNG CANCER.
INDIVIDUALS DAIICHI YEAR.
LOCAL WORKER CAN ADDRESS LOCAL ISSUES.
THE MY CODE PROGRAM GIVES PATIENTS AN OPPORTUNITY TO PARTICIPATE.
THOUSANDS OF GENES IN EVERY CELL AND FOR EVERY GENOMIC SCIENTIST, THOUSANDS OF CHANCES TO PREVENT DISEASE.
MODERATOR: JOINING US IN STUDIO TONIGHT, WE HAVE DR. KRISTIN MARTIN, DR. MARILYN D. RITCHIE, AND WE ARE ALSO JOINED BY DR. LOUIS, AND IF YOU HAVE A QUESTION FOR ONE OF OUR GUESTS, CALL 1-8 HUNDRED-326 -- CALL THE NUMBER ON YOUR SCREEN, OR USING THE SOCIAL MEDIA #KEYSTONEHEALTH.
WE WILL LEARN MORE ABOUT THE PROJECT, BUT FIRST LET'S HEAR FROM A PARTICIPANT.
♪ >> MY NAME IS ANTHONY, AND I HAVE BEEN IDENTIFIED WITH THE LDLR ABERRANT GENE WHICH IS A PRECURSOR FOR EARLY HEART DISEASE.
WE ARE DISCOVERING THAT EVERYONE IN MY FAMILY HAD HIGH CHOLESTEROL, AND IT CAME FOR MY MOTHER'S SIDE.
>> HE HAD HIS FIRST HEART ATTACK AT 35.
I ALWAYS FELT GUILTY BECAUSE I KNEW IT WAS MY BLOODLINE THAT HE WAS FOLLOWING.
ANTHONY: IF YOU LOOK AT MY CODE STUDY, IT CONFIRMED OUR INTUITION.
TO ME, IT GIVES HOPE FOR A CURE.
IT GIVES MY MOM PEACE OF MIND, I THINK GENETICS ARE GOING TO CHANGE THE WORLD.
MODERATOR: MOST TIMES WHEN PEOPLE HEAR THE WORD GENOMICS, THEY THINK ABOUT DNA, MAYBE SOME SCREENING TESTS, BUT THERE IS A LOT MORE INVOLVED TO IT THAN THAT.
THERE IS THE EPICS OF DATASHARING, GENETIC COUNSELING, THERE IS GENE EDITING AND I AM LOOKING FORWARD TO HEARING FROM ALL OF YOU ABOUT YOUR RESEARCH.
CAN YOU TELL US ABOUT THE PROJECT.
>> SCHERF, AND THANK YOU FOR INVITING ME HERE TODAY.
-- SURE, AND THANK YOU FOR INVITING ME HERE TODAY.
SO IT STARTED AS A BIO BANK WHERE THEY WERE COLLECTING PATIENT SAMPLES FOR FUTURE USE, BUT IT HAS GROWN TODAY TO HAVE MORE THAN 275,000 OF OUR PATIENTS CONSENTED AND PARTNERING WITH US IN THE RESEARCH.
IT IS THE LARGEST COHORT IN THE WORLD THAT HAS DNA SEQUENCE PAIRED WITH ELECTRONIC HEALTH DATA.
BECAUSE IT HAS USED AN ELECTRONIC HEALTH SYSTEM FOR MORE THAN 20 YEARS NOW, A PROVIDES AN EXTREMELY RICH RESOURCE FOR DIFFERENT STUDIES.
THEY FOCUS ON STUDIES LIKE OBESITY, CANCER, HEART DISEASE, AUTISM, CEREBRAL PALSY THE HAVE ALLOWED US TO MAKE A LOT OF GROUNDBREAKING DISCOVERIES, AND THEN MORE RECENTLY, STARTED TO USE THE INFORMATION FROM MY CODE TO GET CLINICALLY RELEVANT INFORMATION BACK TO OUR PATIENT PARTICIPANTS, LEADING TO WHAT WE HOPE IS EARLY THE TEXT AND OR PREVENTION OF HEART DISEASE OR CANCER.
MODERATOR: YOU ARE ALSO A RESEARCHER BY EDUCATOR AS WELL AND I KNOW YOU ARE PASSIONATE ABOUT TEACHING YOUNG FOLKS ABOUT GENOMICS.
CAN YOU TELL US ABOUT THE COURSE , THE HIDDEN SEQUENCE OF THE GENOME?
>> I WOULD LOVE TO.
I TEACH A COURSE THAT IS DIRECTED TOWARDS NON-BIOLOGY USERS.
IT IS CALLED "THE HIDDEN SECRETS OF GENOME."
THE AIM IS TO MAKE GENOMIC SCIENCE ACCESSIBLE TO UNDERGRADUATES WHO REALLY ARE HONESTLY A LITTLE BIT AFRAID OF SCIENCE.
TO HELP THEM TO FEEL CONFIDENT IN THEIR ABILITY TO PARTICIPATE IN SOCIETY, TO UNDERSTAND WHAT IS GOING ON IN THE NEWS, TO GO TO THE DOCTOR'S OFFICE AND BE GIVEN SOME INFORMATION FROM A OBJECT LIKE MY CODE AND BE ABLE TO SAY, I THINK I UNDERSTAND WHAT YOU ARE SAYING AND I CAN MAKE APPROPRIATE DECISIONS USING THAT INFORMATION.
THE AIM OF THE COURSE IS TO TEACH PEOPLE ABOUT WHAT IS ACTUALLY HIDDEN, THAT INFORMATION THAT IS HIDDEN INSIDE ALL OF OUR GENOMES.
MODERATOR: YOU ALSO ARE WORKING AT A BIOBANK, AND COLLECTING HUMAN BIO SPECIMENS.
THIS IS THE CORNERSTONE TO HEALTH.
CAN YOU TELL US ABOUT THAT WORK?
>> ABSOLUTELY, AND THANK YOU FOR INVITING ME TO BE HERE.
AT PENN MEDICINE, WE ALSO HAVE A BIOBANK THAT IS SIMILAR TO THE OTHER ONE.
WE HAVE 70,000 RESEARCH FOR THIS -- RESEARCH PARTICIPANTS, AND THEY ALSO CONSENT TO USE ELECTRONIC HEALTH DATA, WHICH ALLOWS US TO GET INFORMATION ABOUT THE MEDICATIONS THAT THEY TAKE AS WELL AS THE CLINICAL LAB MEASUREMENTS THEY HAVE, THINGS LIKE BLOOD PRESSURE AND GLUCOSE, AND WE CAN PUT THAT DATA TOGETHER TO ASK QUESTIONS ABOUT HEALTH AND DISEASE.
ONE OF THE OTHER FEATURES IS THAT WE HAVE CONSENT OF THEM TO RETURN RESULTS.
WE HAVE STARTED TO DO SOME HIGHLIGHTS RETURNING, DISEASE RISK GENES, AND WHAT I AM EXCITED ABOUT IS THE WAY THAT PEOPLE RESPOND DIFFERENTLY TO MEDICATION -- WE ALL HEAR STORIES ABOUT SOMEONE WHO THE MEDICINE DID NOT WORK FOR OR THEY HAD AN ADVERSE DRUG REACTION, AND A LOT OF THAT IS CODED IN DNA.
MODERATOR: I KNOW YOU ARE ALSO INTERESTED IN THE SOCIAL DETERMINANTS OF HEALTH, AND YOU ARE DOING THINGS WITH RESEARCH WHERE YOU ARE ASKING PARTICIPANTS TO TAKE PART IN SHARING WHAT THEY DO, WHAT THEIR DAY-TO-DAY LIVES, CAN YOU TELL US?
>> ABSOLUTELY.
ONE OF THE OPPORTUNITIES WE HAD BECAUSE OF COVID-19 WAS THE WAY TO REACH OUT TO PARTICIPANTS.
WE USED TO DO FACE-TO-FACE, BUT BECAUSE OF COVID, WE SWITCHED TO ELECTRONIC.
WE SENT OUT A SURVEY TO OUR PARTICIPANTS TO ASK QUESTIONS ABOUT THEIR LIFESTYLE, THEIR EXERCISE, THEIR DIETS, AND THINGS THAT EARLY ON, WE WERE QUESTIONING HOW THEY WERE RELATED TO COVID, BUT THEY ARE RELATED TO A LOT OF OTHER AREAS AREAS AS WELL.
WE ARE STARTING TO SURVEY OUR PARTICIPANTS AND COLLECT THAT INFORMATION.
SO MUCH OF WHAT IS IMPORTANT HAPPENS NOT AT THE DOCTOR.
AND THAT WE ARE USING GENOME CODING.
OTHER SOCIAL DETERMINANTS THAT THEY MAY NOT BE AWARE ARE RISK FACTORS FOR THEIR HEALTH AND BECAUSE WE KNOW WHERE THEY LIVE, WE CAN PUT THAT DATA TOGETHER AND TRY TO BUILD BETTER PREDICTIVE MODELS OF THEIR FUTURE HEALTH STATUS.
MODERATOR: BESIDES YOUR RESEARCH, YOU ARE ALSO WORKING WITH AUTISTIC PATIENTS AND THEIR FAMILIES.
CAN YOU TELL US ABOUT THAT?
>> SURE.
PEOPLE HERE GENOMICS AND THEY THINK IT IS ALL RESEARCH, BUT THERE IS A LOT OF GENOMICS THAT GOES ON WITH EVERYDAY HEALTH CARE.
ONE OF MY ROLES AND IS DIRECTING THE AUTISM AND DEVELOPMENTAL INSTITUTE.
IT HAS BEEN REALLY REWARDING OVER THE YEARS OF MY CAREER TO SEE THE NUMBER OF PATIENTS THAT WE CAN ACTUALLY GET A GENETIC DIAGNOSIS.
IT IS ONLY ABOUT 2.5% OF PATIENTS THAT WE COULD GIVE AN ANSWER TO, BUT TODAY, IT IS REWARDING THAT OUT OF THE PATIENTS THAT ENTER OUR CLINIC, WE ARE APPROACHING 50% OF PATIENTS WHO WE CAN SAY, WE HAVE FOUND A GENETIC CAUSE FOR YOUR AUTISM.
WE NOW CAN LINK THEM WITH OTHER FAMILIES WHO HAVE THE SAME GENETIC CAUSE.
IT IS ALMOST LIKE CANCER, YOU WOULD NOT TREAT EVERY FAMILY LIKE -- WITH CANCER THE SAME, AND THAT IS THE SAME WITH A CLINICAL DIAGNOSIS LIKE AUTISM.
UNDERSTANDING THE UNDERLYING CAUSE ALLOWS US TO TARGET TREATMENTS.
WE HOPE TO IMPROVE OUTCOMES IN THOSE FAMILIES.
IT ALSO ALLOWS US TO REALLY PROVIDE MORE SPECIFIC GENETIC COUNSELING TO THE FAMILIES.
TALKING ABOUT, THEY HAVE A CHILD NOW, AND FAMILIES WANT TO KNOW, WHAT CAUSED THIS.
THIS PROVIDES AN ANSWER.
NOT ONLY CAN WE NOW HOPEFULLY TAILOR TREATMENT TO BETTER, BUT TALK TO YOU ABOUT FUTURE RECURRENCE RISK.
IT GOES, AND IT CAN RANGE AND A LIST OF LESS THAN 1% TO AS HIGH AS 50%, DEPENDING ON HOW IT IS INHERITED.
IT ALLOWS US TO PREPARE BETTER, AND CARE, BUT THE BETTER WE WILL HOPE THE OUTCOMES WILL BE IN THE LONG RUN.
MODERATOR: THE STUDY OF GENOMICS HAS ALSO ELIMINATED ISSUES IN THE WAY THAT HUMAN SEPARATE THEMSELVES INTO RACES.
LET'S TAKE A LOOK AT THIS SHORT VIDEO BEFORE OUR PANEL WEIGHS IN.
>> THE OVERWHELMING REALITY OF HUMAN POPULATION GENETICS IS HOW SIMILAR WE ARE, NOT HOW DIFFERENT WE ARE.
>> OUR HUMAN MIGRATION HAS ALLOWED FOR SUPERFICIAL GENETIC DIFFERENCES TO EVOLVE, THERE IS NO EVIDENCE FOR GROUPING PEOPLE BY MORE COMPLEX TRAITS.
>> OUR SOCIALLY DEFINED NOTIONS OF RACE ARE NOT SUPPORTED GENOMIC LEAVE.
THERE IS MORE GENETIC VARIATION WITHIN THE GROUPS THAT WE HAD THOUGHT WERE BIOLOGICAL RACES THAN BETWEEN THEM, MEANING THAT THEY REALLY ARE NOT RACES.
>> WE CAN CALL PEOPLE THIS THAT AND THE OTHER, BUT IF WE LOOK AT THE UNDERLYING BASIS OF WHAT MAKES PEOPLE PEOPLE, THOSE CATEGORIES SIMPLY DO NOT EXIST.
>> GENETIC DIFFERENCE MATTERS IS NOT AT THE LEVEL OF A, BUT INDIVIDUALLY, AND HERE, A SINGLE GENETIC ABERRATION CAN MEAN THE DIFFERENCE BETWEEN LIFE AND DEATH.
MODERATOR: W MIGHT SH -- MIGHT YOU WANT TO COMMENT ON HOW GENOMICS COMMENTS ON THE FALLACY OF RACE?
>> I THINK THAT VIDEO IS SPECTACULAR AND I HAD NOT SEEN THAT BEFORE.
LET ME GIVE A LITTLE BIT OF BACKGROUND ON SOME OF THE EDUCATION WORK THAT I DO.
I AM A MEMBER OF THE GENOMIC EDUCATION PARTNERSHIP WHICH IS A GROUP OF GENOMIC EDUCATORS THAT WAS ORIGINALLY PUT TOGETHER AT WASHINGTON UNIVERSITY, AND A NUMBER OF US ARE THINKING NOW ABOUT PUTTING TOGETHER EDUCATIONAL MATERIALS, HELPING US TO UNDERSTAND HOW RACE IS IS REALLY KIND OF -- THE THING THAT WE CONSIDER TO BE RACE IS NOT A MEANINGFUL DISTINCTION.
I THINK THE VIDEO DID A REALLY EXCELLENT JOB OF DESCRIBING HOW PEOPLE ARE VERY, VERY CLOSELY RELATED, DIFFERENCES BETWEEN GROUPS ARE NOT ACTUALLY MEANINGFUL, AND THERE IS NO GENETIC BASIS FOR THOSE DIFFERENCES.
WE ARE HOPING TO CREATE SOME NEW CURRICULUM ITEMS, SHARE WITH THE COMMUNITY IN THE NEAR FUTURE THAT WILL HELP IN COMBINATION WITH STUNNING VIDEOS LIKE THESE, THAT WILL HELP EDUCATORS TO TEACH ABOUT THIS DIFFICULT SOCIETAL CONUNDRUM.
MODERATOR: WE ACTUALLY HAD A QUESTION, IN FROM A CALLER THAT I AM HOPING YOU CAN ANSWER.
THE QUESTION IS WHETHER OR NOT SOME ETHNICITIES ARE MORE SUSCEPTIBLE TO CATCHING COVID.
>> THAT IS A GREAT QUESTION, AND I WISH I KNEW THE ANSWER WITH CERTAINTY.
RIGHT NOW, THE SCIENCE LOOKS LIKE IT IS MORE SO RELATED TO OUR SOCIAL DETERMINANTS OF HEALTH THEN GENETIC ANCESTRY.
AGAIN, MUCH LIKE THE VIDEO WAS SAYING, WE NEED TO BE CAREFUL HOW WE USE THE WORDS OF RACE AND ETHNICITY AND ANCESTRY.
MANY PEOPLE USE THEM SYNONYMOUSLY AS IF THEY MEAN THE SAME THING AND THEY DON'T FORGET ANCESTRY -- AND THEY DON'T FO AND THEY DON'T.
FOR MANY OF US NOW, WE ARE A MIXTURE OF DIFFERENT COUNTRIES, SO WE DO NOT EVEN HAVE A CONTINENTAL ANCESTRY.
ETHNICITY IS A SOCIAL AND CULTURAL CONSTRUCT.
RACE IS A POLITICAL CONSTRUCT.
WHAT THE DATA SUGGESTS IS THAT THERE ARE RISKS RELATED TO OUR SOCIAL DETERMINANTS OF HEALTH.
OUR LIVING SITUATION, THE TYPES OF JOBS THAT WE HAVE WHERE WE ARE IN A CROWDED PLACE AND ABLE TO PRACTICE SOCIAL DISTANCING AND MASK EFFECTIVELY, AND THE OTHER FACTOR IS THE UNDERLYING RISK FACTORS RELATED TO IMMUNITY AND INFECTION THAT SO FAR, THE DATA DOES NOT LOOK LIKE IT IS GENETIC.
IT LOOKS SOCIAL AND ENVIRONMENTAL.
MODERATOR: THANK YOU, RICH, FOR ASKING THAT QUESTION.
I ALSO WANTED TO ASK YOU ABOUT YOUR RESEARCH -- YOU ARE RESEARCHING HOW GENES ARE PACKAGED WITH IN THEMSELVES, AND I KNOW IT IS SOMETHING YOU COULD SHARE WITH US.
>> I WOULD LOVE TO.
THIS IS SOMETHING THAT IS AN INTERESTING QUESTION THAT HAS BEEN A QUESTION FOR A LONG, LONG TIME.
AND EVERY SINGLE ONE OF OUR, ALL OF US CARRY ABOUT TWO METERS OF DNA, THAT IS HELD IN A CELL THAT IS SO SMALL THAT YOU COULD NOT SEE IT WITH THE NAKED EYE.
ONE OF THE THINGS THAT I HAVE BEEN STUDYING IS HOW WE PACKAGE THAT DNA SUCH THAT WE CAN ACCESS THE INFORMATION INSIDE OF IT AND IN ADDITION TO THAT, HOW THAT PACKAGING CAN HELP WITH REGULATION.
QUESTIONS OF TIGHT PACKAGING.
IF YOU FOLD UP A PAPER REALLY, REALLY TIGHTLY, IT IS A LOT HARDER TO ACCESS THE INFORMATION WRITTEN ON THE PAPER, THEN IF A PIECE OF PAPER IS LAID ON A TABLE.
THAT IS ONE OF THE AREAS THAT I HAVE BEEN STUDYING.
HOW DO WE PACKAGE IN GENERAL, AND HOW LOCAL PACKAGING CAN IMPACT HOW WE ACCESS THE INFORMATION IN OUR GENOME.
NOT ONLY IS THE INFORMATION IT SELF-IMPORTANT, BUT CAN YOU GET TO THE INFORMATION?
THAT IS ANOTHER IMPORTANT PART.
MODERATOR: HOW DO YOU THINK THAT GENOMICS MIGHT BE USED BY A FAMILY POSITION IN THE FUTURE?
RIGHT NOW, WE SEE IT MOSTLY WITH SPECIALTIES, BUT WHAT MIGHT TO MY FAMILY DOCTOR BE ABLE TO USE GENOMICS FOUR.
>> WE WANT TO INFUSE YOUR NOMEX TO HEALTH CARE AND NOT HAVE SOMEBODY TO A SPECIALIST -- INFUSE GENOMICS TO HEALTH CARE AND NOT HAVE SOME BUDDY HAVE TO GO TO A SPECIALIST.
WE HAVE ONE WHERE ANY PATIENT WHO COMES IN IS OFFERED A DNA TEST.
THERE ARE GENES THAT CAUSE DISEASES LIKE BREAST CANCER, OVARIAN CANCER, HEART DISEASE, HIGH CHOLESTEROL, AND OTHER CONDITIONS THAT ARE COSMETICALLY ACTIONABLE.
SO TAKING ACTION ON A PATIENT'S HEALTH CARE, HOPEFULLY IF IT IS A RISK FOR CANCER, TO DO EARLIER SCREENING TO MONITOR OR PREVENT IT COMPLETELY.
WE ALREADY HAVE LOTS OF EXAMPLES WHERE WE HAVE FOUND SOME OF THE GENETIC CLUES IN OUR PATIENTS, AND GO INT DASH AND TO DO A SCREENING TEST, AND FIND THAT THEY HAVE EARLY CANCER, BUT THEY DID NOT SHOW SYMPTOMOLGY YET.
WE ARE BANKING ON THE FUTURE OF HEALTH CARE TO INCORPORATE THIS INTO PATIENT CARE.
SO FAR AS OUR SCHOOL OF MEDICINE IS OUT OF THEIR PRIMARY CARE PROGRAM IS NOW INCORPORATING GENOMICS AS PART OF THEIR TRAINING SO WHEN THEY GO OUT IN THE WORLD, THEY FEEL COMFORTABLE ORDERING GENETIC TESTS, EXPLAINING GENETIC INFORMATION TO PATIENTS, AND INCORPORATING IT IN THE PATHWAY.
MODERATOR: DO WE BELIEVE THAT IT COULD BE A PART OF SOMEONE'S ELECTRONIC RECORD, WOULD IT BE TRANSFERRED FROM MY FAMILY DOCTOR TO RHEUMATOLOGIST, POTENTIALLY, AND WHAT ARE THE ETHICS WITH DATASHARING?
>> I THINK WE WILL HAVE IT ON OUR PHONES, MAYBE SOMEDAY.
[LAUGHTER] WE ALREADY HAVE SEQUENCING INFORMATION ON OVER 180,000 OF OUR PATIENTS ON MY CODE.
HAVING THAT IN AN ELECTRONIC FORMAT THAT CAN BE ACCESSED OVER TIME, AND WHEN A NEW CONDITION POPS UP, WE ARE ABLE TO USE THAT GENETIC INFORMATION TO CARE FOR THAT PATIENT.
IT IS NOT JUST THAT PATIENT, BUT IT IS THEIR FAMILY.
THERE COMES THE GENETIC COUNSELING BACK INTO PLAY OF I HAVE IDENTIFIED SOMEONE IN THE FAMILY THAT HAS THIS CHANGE.
ALL OF THEIR CHILDREN ARE AT RISK OF INHERITING THAT.
THEIR SISTERS, BROTHERS, CHECK THEIR PARENTS.
HAVING THE INFORMATION IS DEFINITELY THE FUTURE, AND DATA SHARING IS IMPORTANT.
I KNOW PEOPLE TEND TO USE SCARE TACTICS, BUT WE SHARE HEALTH DATA ALL THE TIME.
THAT IS HOW WE MADE SOME OF THE DISCOVERIES WE HAVE BEEN ABLE TO, BY PUTTING THE LARGE DATA SETS TOGETHER.
THE MORE WE HAVE, THE MORE PATIENTS WE CAN TAKE CARE OF.
MODERATOR: YOU MENTIONED USING GENOMICS WHEN TALKING ABOUT MEDICATIONS AND WHY SOME MAY WORK FOR ONE BUT NOT FOR ANOTHER.
WHAT OTHER CLINICAL USES ARE THERE FOR GENOMICS?
>> SOME OF THOSE ARE THE ONES THAT KRISTA ALREADY HIGHLIGHTED.
THESE ARE THE GENES THAT ARE INHERITED THROUGH FAMILIES AND A SPECIFIC MUTATION THAT PUT SOMEONE AT RISK OR SOMETHING LIKE REST CANCER OR COLON CANCER, OR HIGH BLOOD PRESSURE.
THERE ARE OTHERS, HOWEVER, THEY ARE MUCH MORE COMPLEX.
DISEASES LIKE DIABETES AND A LOT OF FORMS OF HEART DISEASE, PSYCHIATRIC CONDITIONS, AUTOIMMUNE CONDITIONS, A LOT OF THEM ARE NOT DUE TO A SINGLE GENE BUT A COMBINATION OF GENES AND PROBABLY ALSO THE ENVIRONMENT.
SCIENTISTS ARE WORKING ON METHODS THAT ARE CALLED INTEGRATED RISK SCORES, AND PUT ALL OF THESE DATA TOGETHER TO TRY TO PREDICT THE RISK OF DISEASE.
IT IS AN EMERGING AREA THAT IS NOT BEING USED ROBUSTLY IN THE CLINIC YET.
HERE IN THERE, YOU ARE STARTING TO SEE IT.
THERE IS A RISK SCORE FOR BREAST CANCER BEING USED IN SOME CLINICS.
THAT IS ANOTHER PLACE, IF I WAS GOING TO PREDICT FIVE OR 10 YEARS FROM NOW, I THINK WE WILL SEE MORE OF THOSE.
THEY ARE NOT QUITE READY FOR PRIME TIME, BUT PRETTY SOON.
MODERATOR: WHEN WE THINK ABOUT RISK AND RISK FACTORS, HOW DO YOU DETERMINE WHETHER OR NOT YOU LET A PATIENT KNOW IF THEY ARE AT RISK, ESPECIALLY IF WE ARE LOOKING AT PEOPLE'S GENOMES FROM THE START JUST LIKE BLOODWORK, AND HOW DO YOU DETERMINE WHEN IS THE BEST TIME TO TELL THEM?
>> GREAT QUESTION AND AN ETHICAL ONE WE ARE TALKING ABOUT A LOT.
BACK TO THE TERM THAT KRISTA USED, SOMETHING THAT IS MEDICALLY ACTIONABLE, THAT IS WHEN WE WANT TO TELL THEM ABOUT THE RISK.
KNOWING YOU ARE AT RISK FOR SOMETHING MAYOR MAY NOT HAPPEN AND THERE IS NOTHING THAT YOU CAN DO ABOUT IT, THAT IS DEBATABLE, BUT FOR MEDICALLY ACTIONABLE THINGS WHERE MAYBE YOU COULD DO DIFFERENT PREVENTATIVE CARE.
MAYBE YOU CAN MAKE LIFESTYLE CHANGES.
MAYBE YOU COULD TAKE PROPHYLACTIC MEDICINE.
THINGS WHO ARE -- LIKE PEOPLE WHO ARE LIKELY TO HAVE ELEVATED LIPIDS, THAT IS WHY THEY'LL GO ON A MEDICATION EVEN IF IT IS THE LDL THAT IS NOT TOO HIGH.
BUT WE TALK A LOT ABOUT WHAT ABOUT LOW RISK.
WOULD YOU EVER TELL ANYONE AT LOW RISK?
NO.
MODERATOR: EXACTLY, I GUESS I NEVER THOUGHT ABOUT IT THAT WAY.
I AM WONDERING IF THERE IS SOMETHING WRONG WITH ME BUT IF I AM SUPER HEALTHY, I MIGHT MAKE BAD CHOICES BECAUSE OF THAT.
AS WE BEGIN TO WRAP UP THIS EVENING, I WOULD LIKE TO ASK YOU ALL IF YOU HAVE ANYTHING THAT YOU WOULD LIKE TO SHARE WITH OUR VIEWERS THAT THEY COULD DO TO SUPPORT THE WORK THAT YOU ARE DOING.
>> ONE THING THAT I THINK IS PRETTY AMAZING ABOUT GENOMICS AND IN PARTICULAR, GENOMICS EDUCATION WHICH IS WHAT I DO IS THAT IT IS REALLY A GREAT EQUALIZER IN A TIME LIKE NOW.
THE RESEARCH THAT CAN BE DONE ON VARIOUS GENOMICS PROJECTS AND THE STUDY OF GENOMICS CAN BE DONE REMOTELY.
IT DOES NOT REQUIRE THAT YOU SPEND TIME IN A LAB, IT DOES NOT REQUIRE THAT YOU BE WITH OTHER PEOPLE AT ALL TIMES.
I THINK THAT IS A REALLY NICE KIND OF LESSON FOR OUR STUDENTS TO TAKE THAT THEY CAN DO THIS AND THEY CAN DO IT NOW.
MODERATOR: I WOULD LIKE TO THANK OUR PANELISTS FOR PARTICIPATING AND THANK YOU FOR JOINING US.
FOR MORE INFORMATION, PLEASE VISIT WVIA.ORG, AND YOU CAN REWATCH THIS EPISODE OR ANY PREVIOUS EPISODE ON DEMAND ANY TIME ONLINE OR ON THE WVIA APP.
FOR KEYSTONE ADDITION HEALTH, THANK YOU FOR WATCHING.
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