Articles, Blog

From the Human Genome Project to Precision Medicine: A Journey to Advance Human Health

December 22, 2019


>>HI, GOOD AFTERNOON. I’M DIRECTOR OF THE SUMMER EDITION PROGRAM AND POSTBAC PROGRAM IN THE OFFICE OF INTRAMURAL TRAINING AND EDUCATION, AND TODAY I’M SO PLEASED TO INTRODUCE DR. ERIC GREEN, OUR FIRST SPEAKER FOR THE SUMMER LECTURE SERIES. DR. GREEN IS THE DIRECTOR OF THE NATIONAL HUMAN GENOME RESEARCH INSTITUTE THE, NHGRI, AT THE NATIONAL INSTITUTES OF HEALTH. SINCE 2009, HE CAME TO NIH AS A PRINCIPAL INVESTIGATOR IN 1994, AND SERVED AS DIRECTOR OF THE NIH INTERTHE MURAL SEQUENCING CENTER, CHIEF OF THE NHGRI TECHNOLOGY BRANCH AND LATER BECAME THE NHGRI SCIENTIFIC DIRECTOR. DR. GREEN RECEIVED HIS B.S. DEGREE FROM THE UNIVERSITY OF WISCONSIN-MADISON AND HIS MD PH.D. FROM WASHINGTON UNIVERSITY IN ST. LOUIS. DURING RESIDENCY TRAINING, HE STARTED HIS CAREER IN GENOMICS RESEARCH. DR. GREEN’S RESEARCH WAS AT THE FOREFRONT OF SEQUENCE AND UNDERSTAND HIS WORK INCLUDED SIGNIFICANT INVOLVEMENT IN HUMAN GENOME PROJECT. HE HAS AUTHORED AND CO-AUTHORED OVER 340 PUBLICATIONS, THAT’S A LOT, RIGHT? TODAY, DR. GREEN WILL TALK ABOUT HIS RESEARCH IN HOW GENOMIC KNOWLEDGE IS BEING USED BY RESEARCHERS AND CLINICIANS TO TACKLE INCREASINGLY COMPLEX PROBLEMS IN BIOMEDICINE. PLEASE JOIN ME IN WELCOMING DR. ERIC GREEN. [APPLAUSE]>>THANK YOU VERY MUCH, IT’S A PLEASURE TO BE HERE. I’M ALWAYS DELIGHTED TO SPEAK TO THE SUMMER INTERNS AND SUMMER TRAINEES. THE I DO IT EVERY YEAR FOR THE SUMMER TRAINEES WHO ARE AT MY INSTITUTE, NHGRI, WHEN I WAS INVITED TO DO THIS FOR THE ENTIRE NIH PROGRAM, I IMMEDIATELY ACCEPTED AND WAS LOOKING FORWARD TO SPENDING THIS AFTERNOON WITH YOU. AS YOU CAN SEE FROM THE TITLE, AND YOU MAY HAVE GOTTEN A LITTLE HINT OF THIS FROM THE INTRODUCTION, I’M GOING TO TALK ABOUT THIS FIELD OF GENOMICS THAT I’VE BEEN INVOLVED WITH ACTUALLY SINCE THE INCEPTION OF THE FIELD, BUT I’M REALLY GOING TO DESCRIBE FOR YOU A NUMBER OF JOURNEYS, WHICH IS WHY THE HAVE THE WORD JOURNEYS SPECIFICALLY IN THE TITLE OF THIS TALK. IT’S GOING TO BE A JOURNEY ABOUT THIS FIELD OF GENOMICS, AND WHERE IT’S COME FROM, FROM ITS VERY BEGINNING. IT’S GOING TO BE A DESCRIPTION OF THIS NEW EMERGING JOURNEY FOR PRECISION MEDICINE, WHICH I’LL TALK ABOUT NEAR THE END OF MY TALK, BUT I’M ALSO GOING TO INTERWEAVE MY OWN PERSONAL JOURNEY. ONE OF THE THINGS I WAS ASKED TO TALK ABOUT TO AN AUDIENCE LIKE THIS IS A LITTLE ABOUT MY OWN STORY, MY OWN JOURNEY AS YOU ARE ABOUT TO ENTER YOUR PROFESSIONAL JOURNEYS SH AND SOMETIMES IT’S ILLUSTRATIVE TO HEAR WHAT OTHERS HAVE DONE BEFORE YOU SO I THOUGHT YOU MIGHT BE INTERESTED TO HEAR SOME THINGS ABOUT REALLY VERY MUCH HOW MY OWN PERSONAL JOURNEY HAS BEEN INTERWOVEN WITH THE JOURNEY OF GENOMICS AND INCREASINGLY THE JOURNEY OF PREVISION MEDICINE. NOW, PRE — PRECISION MEDICINE. US A HEARD IN THE INTRODUCTORY COMMENTS>>SPEAKER2: WAS BORN AND RAISED IN ST. LOUIS, MISSOURI, I CAME BACK TO WASHINGTON UNIVERSITY HAVING MADE THE DECISION TO PURSUE AN MT PH.D. DEGREE. THAT WAS A KEY DECISION, I WANTED JOINT TRAINING TO BE BOTH A PHYSICIAN AND A SCIENTIST. HERE I AM AT MY MEDICAL SCHOOL GRADUATION CEREMONY, I SHOW THIS PICTURE NOT SO THAT YOU CAN SEE ME AS A YOUNGSTER BUT RATHER I WANT YOU TO NOTE THE DATE, BECAUSE IT’S A RELEVANT PART OF THIS JOURNEY. I GOT MY MD PH.D. DEGREE IN 1987. HOLD THAT THOUGHT, WE’LL COME BAB TO IT IN A BIT. I THEN HAD ANOTHER DECISION TO MAKE, WHAT WAS I GOING TO DO. WAS I GOING TO DO A RESEARCH CAREER, WAS I GOING TO BECOME A PHYSICIAN, WAS I GOING TO TRY DO BOTH, DO SOME RESEARCH AND DO SOME CLINICAL WORK, AND THAT WAS ANOTHER KEY DECISION I MADE. WHAT I GRAVITATED TO WAS AN AREA OF PATHOLOGY KNOWN AS LABORATORY MEDICINE, SOMETIMES REFERRED TO AS CLINICAL PATHOLOGY, WHICH IS THE PART OF PATHOLOGY THAT REALLY RUNS THE DIAGNOSTIC LABORATORIES IN HOSPITALS, THE BLOOD BANK CHEMISTRY LAB, MICROBIOLOGY LAB, AND WHAT I WAS SORT OF VAGUELY INTERESTED IN WAS THE IDEA OF DNA DIAGNOSTICS AS ILLUSTRATED IN THE BOTTOM RIGHT OF THIS SLIDE, THINKING THAT THERE ARE SOME EXCITING DEVELOPMENTS GOING ON IN MOLECULAR BIOLOGY, THE USE OF DNA TECHNOLOGY, WHICH WOULD BE A NICE WAY TO BE INVOLVED NOT ONLY THROUGH CLINICAL LABORATORY MEDICINE BUT AS A SCIENTIST AS WELL. WHAT ATTRACTED ME ABOUT A RESIDENCY IN PATHOLOGY, ANY TYPE OF PATHOLOGY RESIDENCY, IS IT GIVES YOU TIME TO GET BACK TO THE RESEARCH LAB TO PURSUE POSTDOCTORAL RESEARCH. AND SO AFTER MY FIRST CLINICAL YEAR IN LABORATORY MEDICINE, I WAS ALLOWED TO PICK A RESEARCH LABORATORY TO PURSUE POSTDOCTORAL TRAINING, AND I WAS VERY DEFINITIVE IN WHAT I WANTED TO DO AT THAT POINT WHEN I REALIZED THAT I COULD WORK IN A LABORATORY THAT WAS JUST STARTING TO WORK ON PROBLEMS RELATED TO THIS BRAND NEW FIELD OF GENOMICS. NOW, 1987 COMES UP AGAIN HERE FOR A VERY DELIBERATIVE REASON. THE FIELD OF GENOMICSDID NOT EXIST BEFORE 1987. IN FACT, IT DIDN’T EVEN EXIST BY NAME UNTIL 1987 IN FACT, THE FIRST USE OF THE WORD GENOMICS IN THE SCIENTIFIC OR MEDICAL LITERATURE HAPPENED IN THIS INAUGURAL ISSUE OF A BRAND NEW JOURNAL CALLED “GENOMICS” WHERE THE EDITORS BASICALLY WROTE AN EDITORIAL AND TALKED ABOUT THIS NEW DISCIPLINE AND NEW NAME IN A NEW JOURNAL AND FOR THIS NEWLY DEVELOPING DISCIPLINE OF GENOME MAPPING AND SEQUENCING FOR WHICH THEY ADOPTED THE TERM GENOMICS. SO I JUST MAKE THIS POINT THAT I GOT ATTRACTED TO THIS FIELD BASICALLY AT ITS INCEPTION AND IT WAS IN 1987 THAT THIS FIELD FIRST GOT NAMED, AND YET I GRADUATED IN 1987, WHICH MEANS NEVER ONCE DURING MY FORMAL EDUCATION, MEDICAL SCHOOL OR GRADUATE SCHOOL, DID I EVER HEAR THE WORD GENOMICS ONCE BECAUSE THE WORD DIDN’T EXIST, AND YET HERE I AM LEADING THE INSTITUTE AT THE NIH RESPONSIBLE FOR GENOMICS RESEARCH IN THE UNITED STATES AND REALLY THE LEADER IN THE WORLD FOR GENOMICS RESEARCH BASED ON THE ACTIVITIES OF WHAT MY INSTITUTE IS RESPONSIBLE FOR. NOW WHAT IS GENOMICS AND WHY IS IT THAT 1987 WAS A YEAR FOR STARTIN A NEW SCIENTIFIC DINS DYSPALESTINIAN? DISCIPLINE? I SUSPECT MOST OF YOU KNOW FUNDAMENTALLY WHAT GENOMICS IS BUT A LITTLE BIT OF CONTEXT PROBABLY WOULD BE HELPFUL TO BRING EVERYBODY ALONG. THINK ABOUT THE CONCEPT THAT THE HUMAN BODY HAS SOMETHING ON THE ORDER OF 10 TO 20 TRILLION CELLS THAT MAKE UP THE HUMAN BODY. AND I COULD TELL YOU THAT FOR DECADES, IF NOT CENTURIES, I THINK SCIENTISTS AND PHYSICIANS WERE IP TREEGED INTRIGUED BY
THIS IDEA THA
T ALL OF THESE CELLS IN OUR BODY OPERATE IN DIFFERENT WAYS BUT YET OPERATE OFF THE SAME FUNDAMENTAL BLUEPRINT. HOW IS IT ALL THOSE TRILLIONS OF CELLS WHEN THEY’RE OPERATING IN THE BRAIN, THE MUSCLE, THE LIVER, ALL HAVE THE SAME FUNDAMENTAL BLUEPRINT, AND WOULDN’T IT BE INTRIGUING TO UNDERSTAND THAT BLUEPRINT? WELL, AS TIME MARCHED ON, WITH HE CAME TO LEARN THAT THAT BLUEPRINT WAS HOUSED IN THE NUCLEUS OF CELLS AND THESE STRUCTURES KNOWN AS CHROMOSOMES BUT WHILE HINTS CAME ALONG IN THE EARLY 1900s, IT REALLY KRI KRAIS TALLIZED OUR UNDERSTANDING OF THAT BLUEPRINT MOLECULE IN THE 1950s WHEN WATSON AND CRICK MADE THE STUDY ABOUT THE DOUBLE HEELY CAL STRUCTURE OF DNA. IT WAS THE LAST PIECE OF THE PUZZLE THAT GAVE US THE INSIGHTS ABOUT HOW IT WAS THAT DNA WAS THE BLUEPRINT, IN OTHER WORDS, THE INFORMATION MOLECULE FOR HEREDITY. WHAT I SAW BASICALLY TRANSFORM THE FIELD IN THE 1970s AND 1980s WAS BETTER AND BETTER AND BETTER METHODS FOR STUDYING DNA. IN PARTICULAR WHEN I WAS A GRADUATE STUDENT CERTAINLY THAT WAS THE TIME OF THE MOLECULAR BIOLOGY REVOLUTION WHEN ALL THESE TECHNIQUES CAME ABOUT FOR BASICALLY CLONING ISOLATING MANIPULATING DNA IN A LABORATORY. IN THE LATE 1970s, WHEN THOSE FIRST METHODS CAME AVAILABLE FOR ACTUALLY READING OUT THE BUILDING BLOCKS OF DNA AND OF COURSE THE ABILITY TO READ OUT THE Gs, As, Ts AND Cs, THE ORDER OF WHICH ENCODES ALL THE INFORMATION NECESSARY FOR LIFE, THAT IS THE BLUEPRINT INFORMATION. THE NOTION BY THE LATE 1980s WAS THAT, WOW, WE’VE GOT REALLY GOOD AT ISOLATING AND MANIPULATING AND READING DNA. MAYBE WE COULD ACTUALLY THINK ABOUT READING OUT OUR ENTIRE BLUEPRINT. IF WE COULD GET REALLY GOOD AT SEQUENCING DNA AND DO IT IN AN ORGANIZED WAY, MAYBE WE CAN READ ALL THE DNA OF THE HUMANS AND OTHER ORGANISMS AND ALL THE DNA OF A HUMAN OR AN ORGANISM IS ITS GENOME. AND THAT LED BASICALLY TO THE REATION OF THIS FIELD OF GENOMICS. THE COMPREHENSIVE STUDY OF THE DNA OF AN ORGANISM. AND WHAT BECAME PARTICULARLY ATTRACTIVE WAS THIS IDEA THAT WHILE HUMANS HAD A LOT OF DNA IN ITS GENOME, IT’S NOT INFINITE, IT’S ABOUT 3 BILLION LETTERS. IT’S 3 BILLION Gs, As, Ts AND Cs MAKE UP THE HUMAN GENOME AND WOULD IT BE POSSIBLE TO GET ORGANIZED ENOUGH TO READ OUT ALL 3 BILLION OF THOSE LETTERS ONCE AND FOR ALL AND MAKE THAT FUNDAMENTAL INFORMATION ABOUT THE HUMAN BLUEPRINT AVAILABLE TO ALL SCIENTISTS AROUND THE WORLD. THIS WAS CONCEPTUALIZED IN THE LATE 1980s, AND ORGANIZED INTO A PROJECT THAT LAUNCHED ON OCTOBER 1 OF 1990, SOMETHING CALLED HEWITT THE HUMAN GENOME
PROJECT. I WAS IN THE RIGHT PLACE AT THE RIGHT TIME, I WAS IN A PLACE THAT WAS DOING SOME EARLY GENOMICS WORK AND I HAD THE ABILITY TO BASICALLY JOIN THE HUMAN GENOME PROJECT AS A POSTDOCTORAL FELLOW ON DAY ONE, ON THE FRONT LINE AND PARTICIPATE IN THE PROJECT FROM BEGINNING TO END. I WAS A RESIDENT AT THE TIME, I WAS A POSTDOCTORAL TRAINEE BUT I WAS ABLE TO ANALOGY MATE ALL THESE THINGS AND BASICALLY BE INVOLVED IN THE GENOME PROJECT REALLY AT ITS COMPLETE INCEPTION INCEPTION. THE GENOME PROJECT WAS INCREDIBLY SUCCESSFUL BY ALMOST ANY METRIC. 13 YEARS LATER, THE PROJECT WAS COMPLETED, WE ACCOMPLISHED ALL OF OUR GOALS, WE THRIFERRED THE FIRST SEQUENCE OF THE HUMAN GENOME AND TO SOME EXTENT THE REST WAS HISTORY. IT WAS 15 YEARS AND SEVERAL MONTHS AGO WHEN THE GENOME PROJECT CONCLUDED. AND IT WAS TRULY A EUPHORIC TIME FOR BIOMEDICAL RESEARCH BECAUSE THERE WAS PLENTY OF SKEPTICISM ABOUT WHETHER THE GENOME PROJECT WOULD BE SUCCESSFUL AT THE BEGINNING BUT HAVING IT BE SO WILDLY SUCCESSFUL WAS SORT OF A VALIDATION OF THE IDEAS OF WHY WE WANTED TO PURSUE SEQUENCING THE HUMAN GENOME IN THE FIRST PLACE. I’LL COME BACK TO THE STORY LINE OF THE JOURNEY OF GENOMICS BUT LET ME JUST SAY A COUPLE MORE THINGS ABOUT MY OWN STORY LINE THAT I OFTEN GET ASKED ESPECIALLY AS A DIRECTOR OF AN NIH INSTITUTE, SORT OF LIKE WHAT WAS SORT OF THE DIFFERENT STAGES OF YOUR CAREER, WHY DID YOU MAKE THESE DECISIONS, HOW DID YOU EVER BECOME AN NIH INSTITUTE DIRECTOR AND SO FORTH. I WILL TELL YOU THAT I HAVE NOT BEEN THE SAME OVER THE ROUGHLY 30 YEARS OF MY PROFESSIONAL CAREER. I’VE CERTAINLY HAD DIFFERENT PERSONAS AND I SOMETIMES HEAR A JOKE ABOUT HOW DIFFERENT I’VE BEEN IN MY CAREER. SO FOR EXAMPLE, I GOT INVOLVED IN THE GENOME PROJECT FROM THE VERY BEGINNING, I ENDED UP HAVING MY OWN LABORATORY WHERE WE WORKED ON THE GENOME PROJECT AND WORKED ON OTHER THINS AS YOU HEARD 24 YEARS AGO, I GOT RECRUITED HERE, AND I HAD A VERY ACTIVE RESEARCH PROGRAM HERE FOR A NUMBER OF YEARS, HAD PLENTY OF SUMMER STUDENTS COME WORK ON THE GENOME PROJECT AND THEN ACTIVITIES AFT GEE MOAM PROJECT AND I WOULD SAY IF YOU SORT OF ASK ME WHAT’S A GOOD PERSONA THAT DESCRIBES WHAT YOU WERE LIKE DURING THE HUMAN RESEARCH PROJECT, WHEN YOU WERE RUNNING YOUR OWN LAB>>SPEAKER2: WOULD THINK ABOUT SOME MOVIE CHARACTERS AND I WOULD SAY THE PERSONA THAT MATCHES ME PERFECTLY ALMOST IS THIS GUY. IT’S EMIT BROWN OF BACK TO THE FUTURE. VERY ENERGETIC, CRAZY IDEAS GOING A MILLION DIFFERENT DIRECTIONS, TALKING VERY FAST. THAT WAS ME, ESPECIALLY DURING THE GENOME PROJECT AND A FEW YEARS BEYOND. BUT THEN OPPORTUNITIES COME UP, YOU HEARD DURING THE INTRODUCTION I HAD OPPORTUNITIES TO TAKE OH ON LEADERSHIP RESPONSIBILITIES, I EVENTUALLY BECAME THE DIRECTOR OF OUR INTRAMURAL PROGRAM, BECAME DIRECTOR OF THE INSTITUTE. AND NOW I DON’T GET TO HAVE AS MUCH FUN. EMMETT BROWN ALWAYS GOT TO HAVE FUN. YOU NO I HAVE A WHOLE DIFFERENT JOB DIRECTING THE INSTITUTE. NONOW IF YOU SAID WHAT ARE YOU LIKE AS AN INSTITUTE DIRECTOR REALLY IT’S MORE LIKE THIS, THIS GUY, JUST SORT OF LIKE — I DON’T REALLY DO ANYTHING. I JUST WAIT AROUND, PEOPLE BRING ME ISSUES, PROBLEMS, I GO IN MY BOOTH, TURN SOME DIELTS, SEND SOME EMAILS AND TRY TO SOLVE SOME PROBLEMS. IT’S MUCH DIFFERENT, IT’S VERY GRATIFYING TO BE HONEST BUT IT’S MUCH MORE LIKE THE WIZARD OF OZ THAN HE MET BROWN. OFTEN WHEN I TALK TO UNDERGRADUATES, THEY SAY YOU WERE REALLY SMART, YOU HAD THIS GREAT PLAN, YOU WERE EVENTUALLY GOING TO BE AN INSTITUTE DIRECTOR, HOW DID YOU EVER FORMULATE YOUR LIFE PLAN? AND I WOULD SAY, YOU MUST BE KIDDING ME. I NEVER HAD A PLAN WHATSOEVER, I HAD NO IDEA WHAT I WAS GOING TO BE DOING WHEN I WAS YOUR AGE, I HAD NO IDEA WHAT I WAS GOING TO BE DOING AT MULTIPLE STAGES OF MY CAREER. MY LIFE, ALL OF YOUR LIVES, THIS IS WHAT IT’S ALL ABOUT. YOU COME TO A FORK IN THE ROAD, YOU EITHER GO RIGHT OR LEFT. YOU DECIDE DO YOU WANT TO GO TO MEDICAL SCHOOL, GRADUATE SCHOOL, DO YOU WANT TO DO NEITHER? YOU JUST GO ONE WAY OR THE OTHER. AND THEN A YEAR OR TWO OR THREE OR FOUR OR FIVE LATER, YOU COME TO ANOTHER FORK IN THE ROAD, YOU MAKE YOUR DECISION. I CAN TELL YOU ABOUT EIGHT DIFFERENT TIMES I CAME TO A MAJOR FORK IN THE ROAD AND I JUST HAD TO GO ONE WAY OR THE OTHER. I NEVER REALLY HAD A GRAND PLAN THAT I WAS GOING TO TAKE THREE RIGHTS AND THEN TWO LEFTS. IT JUST DOESN’T EXIST. I’VE GOT TO TELL YOU, I FIRMLY BELIEVE THAT YEAH, YOU CAN HAVE A GENERAL PLAN WHAT YOU WANT TO DO IN LIFE, BUT THEN A LOT OF YOUR LIFE IS ABOUT IMPRO SIZE VOLUMIZING, IT’S ABOUT JUST
IMPROVISING, LIFE IS JUST THAT SMALL INTERFACE BETWEEN THE TWO. I COULD POINT TO MULTIPLE TIMES IN MY LIFE WHERE I JUST HAD TO IMPROVISE AND I MADE DECISIONS, I DON’T KNOW IF THEY WERE THE BEST BUT I’VE ENDED UP IN THIS POSITION AND I’VE HAD A VERY GRATIFYING CAREER, BUT TRUST ME, WHEN I WAS YOUR AGE, I WAS AT YOUR STAGE, I HAD NO IDEA WHAT I WAS GOING TO BE DOING THREE OR — TWO, THREE, FOUR ME KAIDZ LATER. SO THAT’S ENOUGH ABOUT MY JOURNEY. LET ME RETURN TO THE JOURNEY OF GENOMICS. SO WHERE I LEFT OFF IS THAT WE HAD COMPLETED THE HUMAN GENOME PROJECT. SO NOW I WANT TO TELL YOU ABOUT SORT OF SOME OF WHAT I THINK ARE THE KEY ADVANCES, THE REAL HIGHLIGHTS THAT WE’VE SEEN IN THE FIRST THREEISH DECADES OF GENOMICS. WE’VE GONE FROM 1987 TO NOW 2018, 31 YEARS OF GENOMIC. WHAT HAVE BEEN THE BIG HIGHLIGHTS? I’LL TELL YOU ABOUT SIX OF THEM BECAUSE I THINK THEY NICELY SHOWCASE WHAT WE’VE ACCOMPLISHED IN THIS YOUNG DISCIPLINE. I TOLD YOU ABOUT THE FIRST ONE, AND THE FIRST HIGHLIGHT WILL ALWAYS BE THE FIRST HIGHLIGHT. WE SEQUENCED THE HUMAN GENOME FOR THE VERY FIRST TIME BUT BI-THE HUMAN GENOME PROJECT. WE LAID OUT THE ORDER OF THE 3 BILLION LETTERS THAT MAKE UP A REFERENCE HUMAN GENOME SEQUENCE. AND WHAT I CAN TELL YOU IS THAT HAVING COMPLETED THAT 15 YEARS AGO, OH, MY GOSH, HAS GENOMICS CAUGHT FIRE AND SPREAD ACROSS THE BIOMEDICAL RESEARCH LANDSCAPE, ACTUALLY IT’S SPREAD EVEN BEYOND. THE APPLICATIONS OF GENOMICS HAVE BEEN BREATHTAKING AND THEY HAVE BEEN WIDE AND FAR. SHOWN HERE IS A SUBSET OF THE AREAS THAT HAVE BEEN PROFOUNDLY INFLUENCED BY GENOMICS OVER THE PAST 15 YEARS. EACH ONE OF THESE COULD BE A LECTURE IN AND OF THEMSELVES. I’M ACTUALLY NOT GOING TO TOUCH ON REALLY ANY OF THESE NINE AREAS, RATHER THE AREA THAT I’M GOING TO EMPHASIZE IS THE AREA THAT I WORK IN. I’M GOING TO EMPHASIZE THE IMPLEMENTATION OF GENOMICS FOR STUDYING HUMAN HEALTH AND DISEASE AND POSSIBLY FOR CHANGING THE PRACTICE OF MEDICINE. AND OF COURSE THE REASON I’M GOING TO TAKE THIS MORE MEDICALLY ORIENTED TRACK IN DESCRIBING ACCOMPLISHMENTS IN GENOMICS IS BECAUSE WHERE WE’RE AT, WHERE WE ARE HERE. WE’RE AT THE NATIONAL INSTITUTES OF HEALTH. ALL ABOUT TURNING DISCOVERY INTO HEALTH. AND IN PARTICULAR, THE INSTITUTE THAT I’VE NOW BEEN AT FOR 24 YEARS AND HAVE NOW LED FOR EIGHT PLUS YEARS, THE NATIONAL HUMAN GEE NOME INSTITUTE, WE WERE ORIGINALLY CREATED BY THE U.S. CONGRESS TO LEAD THE U.S.’ EFFORT IN THE HUMAN GENOME PROJECT, BUT WELL, YOU KNOW, 15 YEARS AGO, WE FINISHED THAT PART OF IT SO WE HAD TO EXPAND WHAT WE WERE GOING TO DO AND NOW WE THINK ABOUT WE REALLY WANT TO ADVANCE HUMAN HEALTH THROUGH GENOMICS RESEARCH. SO THEN THE QUESTION BECOMES, OKAY, LET’S THINK ABOUT IT, 15 YEARS AGO, WOW, ALL RIGHT, YOU HAVE A FIRST SEQUENCE OF THE HUMAN GENOME, HOW ARE YOU GOING TO GO FROM THAT TO ACTUALLY CHANGING THE PRACTICE OF MET MEDALLION SIN THROUGH A BETTER UNDERSTANDING OF THE ROLE OF GENOMICS IN HEALTH AND DISEASE? WHAT I WOULD TELL YOU IS WE ARE PROGRESSIVELY MOVING IN THAT DIRECTION. IN PARTICULAR, WHAT I HAVE EMPHASIZED AND REALLY HAVE HELPED PUSH THE INSTITUTE OVER THE LAST — AND REALLY THE FIELD OVER THE LAST EIGHT YEARS IS TO FOSTER THESE MEDICAL APPLICATIONS OF GENOMICS. AND TO REALIZE THIS EMERGING DISCIPLINE OF GENOMIC MEDICINE. NOW, BY GENOMIC MEDICINE, I MEAN USING GENOMIC INFORMATION ABOUT AN INDIVIDUAL AS PART OF THEIR CLINICAL CARE. HERE’S THE KEY. EACH ONE OF US IS A LITTLE DIFFERENT THAN ANYBODY ELSE IN THIS ROOM, AND YET SO MANY ASPECTS OF MEDICINE, WE TREAT EVERYBODY SORT OF LIKE THEY’RE THE AVERAGE PATIENT. BUT WE ALL KNOW EACH OF OUR BLUEPRINTS IS A LITTLE BIT DIFFERENT. IF ONLY WE CAN USE UNIQUE BLUEPRINT INFORMATION ABOUT INDIVIDUAL PATIENTS, MAYBE WE CAN TAYLOR THEIR MEDICAL CARE AND DO BETTER THAN WHAT WE’RE DOING NOW. THAT IS THE IDEA OF GENOMIC MEDICINE. USING GENOMIC INFORMATION TO GUIDE THE CARE OF PATIENTS. NOW YOU’LL HEAR OTHER WORDS SOMETIMES USED, OTHER SYNONYMS, INDIVIDUALIZED MEDICINE, PERSONALIZED MEDICINE, WE’LL TALK ABOUT PRECISION MEDICINE LATER. THESE ARE ALL SORT OF SYNONYMOUS BUT GENOMIC MEDICINE IS VERY NARROW IN THAT IT’S JUST TALKING ABOUT GENOMIC INFORMATION, NOT OTHER TYPES OF INFORMATION ABOUT AN INDIVIDUAL, JUST GENOMIC INFORMATION, AND THAT’S WHAT I WILL EMPHASIZE. WELL, THAT SOUNDS GREAT, LET’S DO IT, BUT HOW DO YOU DO IT? HOW DO YOU PROGRESS FROM THE MOST FUNDAMENTAL INFORMATION ABOUT OUR BLUEPRINT THAT THE HUMAN GENOME PROJECT PRODUCED TO ACTUALLY CHANGING THE PRACTICE OF MEDICINE? WELL, THIS IS GOING TO BE A JOURNEY, CERTAINLY GOING TO BE A HARD JOURNEY. IT’S GOING TO NOT INVOLVE A SINGLE STEP, IT’S GOING TO INVOLVE MULTIPLE STEPS AND WE CAN’T POSSIBLY IMAGINE WE KNOW WHAT ALL THOSE STEPS ARE, BUT LIKE ANY OTHER JOURNEY, YOU GET STARTED, YOU FIGURE IT OUT AS YOU GO. THE OTHER THING ABOUT THIS JOURNEY IS THAT IT’S NOT GOING TO HAPPEN QUICKLY, WE KNOW IT’S NOT GOING TO BE A SPRINT, AND WE’RE NOT GOING DO IT ALONE. IT’S NOT LIKE IT’S GOING TO BE TWO OR THREE SCIENTISTS AND CLINICIANS ARE GOING TO SORT OF FIGURE IT ALL OUT AND TELL ALL THE REST OF US. THAT IS GOING TO BE MUCH MORE INTERDISCIPLINARY, IT’S GOING TO REQUIRE ALL SORTS OF DIFFERENT PEOPLE FROM DIFFERENT BACKGROUNDS ALL WORKING TOGETHER TO BASICALLY SLOWLY AND VERY METHODICALLY FIGURE OUT HOW WE’RE GOING TO USE FUNTD FUND MENTAL INFORMATION ABOUT OUR GENOMES TO PRACTICE MEDICINE IN A METHODICAL WAY. IT’S LIKE A MARATHON, MANY PEOPLE RUNNING TOGETHER SHOULDER TO SHOULDER ALL BROUGHT THE TOGETHER WITH A COMMON GOAL. SO THAT’S THE VISION FOR THIS JOURNEY. BUT HOW DO YOU ACTUALLY MAKE THAT HAPPEN AT A FUNDING AGENCY LIKE HERE AT THE NIH OR IN MY INSTITUTE TO NHGRI? ONE THING THAT HAS BENEFITED US WELL IS TO ENGAGE THE SCIENTIFIC COMMUNITY TO HELP US BASICALLY DEVELOP GUIDES, DEVELOP STRATEGIC PLANS THAT WILL SORT OF TELL US WHAT WE MIGHT NEED TO ACCOMPLISH EACH OF THOSE STEPS THAT WOULD INCH US CLOSER AND CLOSER TO THE REALIZATION OF GENOMIC MEDICINE. SO WE HAVE VERY MUCH BENEFITED FROM THIS, WE BENEFITED FROM IT DURING THE HUMAN GENOME PROJECT AND EVER SINCE THEN, WE’VE BENEFITED AS WELL. WE SORT OF SEE PROGRESSION AS REALLY BEING A JOURNEY THAT NEEDS TO BE GUIDED ALONG BY EXPERT ADVICE ON A CONTINUAL BASIS. SO ALONG THOSE LINES, WE ENGAGE THE SCIENTIFIC AND MEDICAL COMMUNITIES FOR THE TWO YEARS LEADING UP TO THE END OF THE HUMAN GENOME PROJECT AND THEN THE DAY THE HUMAN GENOME PROJECT ENDED, WE PUBLISHED IN “NATURE,” THE INSTITUTE PUBLISHED THIS STRATEGIC PLAN THAT SORT OF SAID IN 2003, WHAT NEEDED TO BE DONE OVER THE NEXT FIVE TO 10 YEARS TO MAKE GENOMIC MEDICINE A REALITY. ALTHOUGH WE DIDN’T EVEN USE THE WORD GENOMIC MEDICINE, WE JUST SAID TO APPLY IT TO HUMAN HEALTH. IT REALLY SERVED US WELL AND I’LL SHOW YOU ONE VIVID EXAMPLE OF THAT IN A MINUTE, BUT A GOOD STRATEGIC VISION HAS TO BE UPDATED BECAUSE NO MATTER WHAT YOU THINK YOU KNOW NOW, FIVE YEARS FROM NOW, 10 YEARS FROM NOW YOU HAVE A MUCH CLEARER VISION OF WHAT’S NEEDED SO BY 2011, WE UPDATED OUR STRATEGIC VISION WITH THIS STRATEGIC PLAN PUBLISHED IN NATURE AGAIN AND IN PARTICULAR NOTICE THE WORD GENOMIC MEDICINE ACTUALLY APPEARS IN THE TITLE. WE LAID OUT A MUCH MORE DETAILED WHAT WERE THE STEPS THAT WERE NEEDED TO ACTUALLY SEE GENOMIC MEDICINE BECOME A REALTD. SO THESE TWO GUIDES HAVE BASICALLY HELPED SHOW US THE STEPS THAT WERE NEEDED IN THIS JOURNEY GOING FROM THE THE HUMAN GENOME PROJECT TO THE REALIZATION OF GENOMIC MEDICINE. WELL WITH THOSE AS THE GUIDES, WHAT HAVE BEEN SOME OTHER HIGHLIGHTS? WELL, I WOULD CERTAINLY TELL YOU THAT THE NUMBER TWO HIGHLIGHT, AND I THINK THIS WILL BE NUMBER TWO ON THIS LIST FOR A LONG TIME, HAS TO RELATE TO THE TECHNOLOGIES THAT WE HAVE DEVELOPED OVER THE LAST 15 YEARS TO SEQUENCE DNA. AND IT’S BEEN REMARKABLE HOW QUICKLY AND HOW EFFECTIVELY THESE TECHNOLOGIES HAVE BEEN APPLIED FOR USE IN A RESEARCH LABORATORY AND INCREASINGLY IN THE CLINIC. AND WHAT WE HAVE SEEN HAPPEN IN 15 YEARS SINCE THE END OF THE HUMAN GENOME PROJECT IS THAT PRECIPITOUS DECLINE IN THE COST FOR SEQUENCING A HUMAN GENOME SUCH THAT NOW I CAN TELL YOU THE COST FOR SEQUENCING A HUMAN GENOME HAS BEEN REDUCED BY NEARLY 1 MILLION FOLD. NOW, THIS DID NOT HAPPEN BY ACCIDENT. IN FACT, I WANT TO BRING YOU BACK TO AS I PROMISED I WOULD THE STRATEGIC PLAN THAT WE PUBLISHED THE DAY THE HUMAN GENOME PROJECT ENDED IN 2003. AND WE TALKED ABOUT A LOT OF THINGS THAT NEEDED TO BE DONE HAVING COMPLETED THE HUMAN GENOME PROJECT, BUT AMONG THE REAL HIGHLIGHTS AND THE IMPORTANT THINGS THAT WE SAID IS THAT WE SAID THAT THERE WERE TECHNOLOGICAL LEAPS THAT SEEMED SO FAR OFF AS TO BE ALMOST FICTIONAL BUT WHICH, IF THEY COULD BE ACHIEVED, WOULD REVOLUTIONIZE BIOMEDICAL RESEARCH IN CLINICAL PRACTICE. THE EXAMPLE THAT WE GAVE, WHICH WAS A PRETTY AUDACIOUS EXAMPLE, WAS THE ABILITY TO SEQUENCE DNA AT COSTS LOWERED BY FOUR TO FIVE ORDERS OF MAGNITUDE THAN THE CURRENT COST, ALLOWING A HUMAN GENOME TO BE SEQUENCED FOR $1,000 OR LESS. NOW, OUR NAMES WENT ON THIS PAPER, AND YET WE GAVE AS THE EXAMPLE THE NOTION OF SEQUENCING THE HUMAN GENOME FOR $1,000. A NICE ROUNDED NUMBER. WHY WAS THAT SO AUDACIOUS TO PUT OUR NAMES ON A SCIENTIFIC PAPER MAKING A CLAIM LIKE? WELL, THE REASON WAS A LITTLE BIT AUDACIOUS, IS BECAUSE THIS WAS THE DAY THE HUMAN GENOME PROJECT ENDED, WE HAD JUST SEQUENCED OUR FIRST HUMAN GENOME EVER AND IT COST SOMETHING ON THE ORDER OF A BILLION DOLLARS. ROUGHLY. HERE WE ARE SAYING COME UP WITH BETTER TECHNOLOGIES AND KNOCK SIX FIGURES OFF THAT NUMBER, WHICH ACTUALLY SEEMED LIKE A REASONABLE CLINICAL TEST, IT WAS THE REASON WHY WE PICKED $1,000, IT WAS VERY ROUNDED AND VERY AFFORDABLE FROM A MEDICAL POINT OF VIEW, THAT WAS ABOUT THE COST OF AN MRI OR A CAT SCAN BACK THEN, AND THAT WAS THE GOAL. THE ONLY PROBLEM IS, WE HAD NO IDEA HOW WE WERE ACTUALLY GOING DO THAT, WE JUST SAID THAT’S WHAT WE NEED TO DO. WHAT WAS REALLY PARTICULARLY CHALLENGING ABOUT IT IS YOU HAVE TO REALIZE HOW THE HUMAN GENOME SEQUENCE WAS ACTUALLY GENERATED BY THE HUMAN GENOME PROJECT. IT WAS GENERATED IN FACTORIES THAT LOOKED LIKE THIS. THIS IS A PHOTOGRAPH OF ONE OF THE MAIN LABORATORIES THAT SEQUENCED THE GENOME FOR THE FIRST TIME. THERE WERE DOZENS OF THESE AROUND THE COUNTRY, AROUND THE WORLD, OPERATE BID LITERALLY THOUSANDS OF PEOPLE WORKING IN THESE LABORATORIES, THEY WOULD OPERATE 7/24 GENERATING DATA. THOSE MACHINES, WHICH WERE THE MACHINES THEN USED TO GET THE GENOME PROJECT ACROSS THE FINISH LINE, WERE ABOUT THE SIZE OF THIS PODIUM, AND THEY WOULD JUST CONSTANTLY FEED THEM TO GENERATE DATA. AND HERE WE WERE — THAT’S WHY IT COST A BILLION THRARS, RIGHT? BIG EQUIPMENT, LOTS OF PEOPLE, PRODUCTION 7/24 AND SO FORTH. AND HERE WE’RE SAYING, WOW, WE JUST NEED SOMETHING NEW, BETTER, QUICKER, DISPOSABLE, SOME FANCY DEVICE SUCH AS SHOWN IN ICONIC FORM HERE, AND MAYBE THEN WE CAN GET SEQUENCING TO BE SO CHEAP THAT WE COULD SEQUENCE A HUMAN GENOME FOR ATHOUSAND DOLLARS OR LESS. WELL, THE GOOD NEWS IS THAT WE SORT OF HAVE DONE IT. OUR INSTITUTE DEVELOPED A MAJOR TECH FOLLOWING DEVELOPMENT PROGRAM, WE GAVE OUTLOTS OF GRANTS TO LOTS OF PEOPLE AND LOTS OF PLACES, UNIVERSITIES, EVEN COMPANIES, RESEARCH INSTITUTIONS, SOME IDEAS WERE TOTALLY WHACKO BUT WE WANTED TO TEST IDEAS AND SOME WERE REALLY QUITE SPOT BE ON AND A LOT OF GOOD NEW IDEAS AND NEW TECHNOLOGIES CAME OUT OF THAT. IN ADDITION, THOUGH, WE CAN’T TAKE ALL THE CREDIT, THE PRIVATE SECTOR GOT QUITE INVOLVED, MULTIPLE COMPANIES CAME UP AND IT WAS A BEAUTIFUL EXAMPLE OF BOTH THE GOVERNMENT-BASED FUNDING AND PRIVATE SECTOR FUNDING, EACH DOING THEIR THING, HELPING TO FEED NEW INTELLECTUAL IDEAS INTO THESE COMPANIES THAT WOULD GET COMMERCIALIZED AND TO SOME EXTENT THE REST IS HISTORY. IT’S WORKED EXTREMELY WELL PRETTY QUICKLY. SHOWN HERE IS A STORY FROM NATURE FROM A FEW YEARS AGO TALKING ABOUT HOW CLOSE WE WERE TO A THOUSAND DOLLAR GENOME. SHOWN ON THE BOTTOM LEFT IS A GRAPH WE KEEP TRACK OF, NOTICE IT’S LOGARITHMIC, AND THE COST STARTED ABOUT 2007 WHEN SOME OF THE NEW TECHNOLOGIES GOT INTRODUCED AND YOU CAN SEE THE COSTS JUST GO PLUMMETING DOWN AND NOW SORT OF HOVERING AROUND THE THOUSAND DOLLAR MARK. BUT WHAT’S REALLY REMARKABLE ABOUT IT IS JUST THESE NEW TECHNOLOGIES THAT JUST KEEP POPPING UP, KEEP POPPING UP, BETTER AND NEWER ONES. SO SHOWN ON THE FAR RIGHT, FOR EXAMPLE, KIND OF THE STATE OF THE ART AT THE MOMENT WHERE A LOT OF THINGS ARE TON, THERE’S LITTLE CHIPS, I’M GOING TO SHOW YOU IN MY HAND SORT OF YOU CAN SEE IT LOOKS SOMETHING LIKE THIS IS ONE OF THOSE DEVICES. YOU PUT SAMPLES ON HERE, THEN THESE LITTLE CHIP-LIKE DEVICES GET PUT INTO INSTRUMENTS THAT ACTUALLY WOULD FIT NICELY RIGHT ON TOP OF THIS PODIUM SO WE’VE GONE AS BEING AS BIG A AS THIS PODIUM AS TO SOMETHING THAT WOULD FIT VERY NICELY ON TOP OF THIS PODIUM AND WOW, YOU CAN SEQUENCE GENOMES QUITE EFFICIENT LAIND EFFECTIVE. BUT IT’S NOT JUST THE COST, IT’S ALSO HOW RAPIDLY YOU CAN DO IT. WHAT I TOLD YOU BEFORE WAS THAT THAT FIRST HUMAN GENOME SEQUENCE COST ABOUT A BILLION DOLLARS BUT WHAT I DIDN’T TELL YOU WAS WE WERE ACTIVELY SEQUENCING DNA FOR ABOUT SIX TO EIGHT YEARS TO GET ONE HUMAN GENOME SEQUENCE. THE GOOD NEWS IS USING THESE FANCY CHIP-LIKE DEVICES, IT’S COUNCIL TO ALMOST $1,000, WE’LL PROBABLY GO BELOW FAIRLY SOON BUT WE CAN GENERATE A GENOME SEQUENCE IN A DAY OR TWO OR THREE. THAT STARTS TO BECOME A CLINICAL TEST, SO THAT HAS BEEN ALSO REALLY REMARKABLE. NOW THE OTHER THING THAT’S REMARKABLE IS DON’T I DON’T
WORRY ABOUT THIS STUFF ANYMORE. I AM QUITE OPTIMISTIC ON WHAT’S HAPPENING WITH WHAT WE CURRENTLY HAVE BUT MORE IMPORTANTLY WHAT’S LIKELY GOING TO COME IN THE COMING YEARS. IN FACT, ANY OF YOU INVOLVED IN SEQUENCING DNA THESE DAYS, WHATEVER TECHNOLOGY YOU’RE USING, PROBABLY BY THE TIME YOU’RE A GRADUATE STUDENT OR CERTAINLY AS A POSTDOC OR PHYSICIAN, WE’LL HAVE YOU A NEW TECHNOLOGIES. THERE’S MANY, MANY NEW PLATFORMS THAT ARE IT STILL BEING DEVELOPED AND AT DIFFERENT STAGES OF COMMERCIALIZATION. I THOUGHT YOU MIGHT THINK IT WAS FUN TO SORT OF SEE WHAT THE LATEST ONE IS, SO I TOLD YOU FIRST WE STARTED WITH AN INSTRUMENT AS BIG AS THIS PODIUM, THEN WE HAVE ANOTHER INSTRUMENT THAT WE’VE TALKED ABOUT THAT IS ABOUT — THAT SITS ON TOP OF THE PODIUM, BUT THE REAL RAINL REAL RAGE GOING ON NOW IS THIS THING CALLED NANOPORES, YOU PULL STRANDS OF DNA THROUGH AND YOU MEASURE DIFFERENT THINGS THAT ALLOW YOU TO DETECT EXACTLY WHICH BASE IS BEING PULLED THROUGH IN REALTIME. BUT YOU WHAT’S REMARKABLE ABOUT NANOPORES IS THAT EVERYTHING GETS MINIATURIZED. THIS IS ACTUALLY ONE OF THE DEVICES OUT OF THE LEADING COMPANY. THIS IS THE ENTIRE LABORATORY IN MY HAND. THAT’S ALL YOU NEED. IT’S BASICALLY A LAB ON A CHIP. I IT UP, THERE’S A LITTLE CHIP THAT COMES OUT, YOU BASICALLY APPLY YOUR SAMPLE, IT CAN EVEN JUST BE BLOOD, THAT’S ALL YOU NEED TO DO. YOU DON’T NEED A LABORATORY. YOU THEN TAKE THIS DEVICE WHICH IS A USB DEVICE AND YOU PLUG IT IN TO A LAB TOP AND YOU CAN SEQUENCE DNA. THIS IS NOT SCIENCE FICTION. YOU REALLY CAN SEQUENCE DNA. YOU CAN ACTUALLY USE A LAPTOP
OR MACINTOSH, IT’S INCREDIBLY GOOD FOR SEQUENCING VIRAL GENOMES, BACTERIAL GENOMES, IT’S GETTING BETTER AND BETTER FOR SEQUENCING HUMAN GENOMES. THE PORTABILITY AND THE EXPENSE IS CHEAP AS COULD BE AND IT’S INCREDIBLY PORTABLE. SO THIS EXACT DEVICE, GUESS WHAT, WAS USED IN THE FIELD, IN AFRICA, DURING THE EBOLA OUTBREAK TO TYPE EE EBOLA
STRAINS IN DIFFERENT VILLAGES. DIDN’T NEED A LABORATORY, JUST A LAPTOP. SIMILARLY, THIS EXACT DEVICE USING IN — ANALYZE DIFFERENT ENVIRONMENTAL SAMPLES, AND THIS DEVICE WAS USED TO DNA AND SPACE FOR THE VERY FIRST TIME ON THE INTERNATIONAL SPACE STATION. PRETTY COOL, ALL TRUE. SO THIS IS THE KIND OF TECHNOLOGY WE CAN EXPECT THAT WILL PROBABLY FLOW AND OTHER TECHNOLOGIES WILL SUPPLANT THAT THEREAFTER. THIS SAME COME KP HAS CLAIMS THEY WON’T EVEN NEED A LAPTOP BECAUSE THEY HAVE PACEICALLY AN EARLY DESIGN OF A DEVICE THAT WILL ATTACH TO YOUR IPHONE OR SMARTPHONE. THIS IS NOT A JOKE. THIS IS SERIOUS. IT PROBABLY WILL COME TO PASS. SO THIS IS THE KIND OF EXCITEMENT WE HAVE AROUND TECHNOLOGY. AND YOU’RE GOING TO JUST SEE WAVES AND WAVES OF NEW TECHNOLOGY, I THINK SEQUENCING DNA WILL GET CHEAPER AND CHEAPER. SO I REALLY SPENT A LOT OF TIME TALKING ABOUT THIS BECAUSE I REALLY WANT TO MAKE AN IMPORTANT POINT HERE. I’VE READ THIS ABOUT, I’VE SEEN SOME OF THIS AND I THINK YOU MAY SEE THIS IN YOUR CAREER, MAYBE NOT IN GENOMICS BUT IN SOME OTHER AREA. TECHNOLOGY ADVANCES REALLY DO DRIVE SCIENCE. IT’S WHY GENOMICS HAS BEEN SO REMARKABLE ESPECIALLY OVER THE LAST 15 YEARS, IS THE TECHNOLOGY SURGES. YOU GO BACK IN HISTORY, WHEN THE FIRST TELESCOPE WAS INVENTED, THAT CHANGED THE WHOLE FIELD OF ASTRONOMY. WHEN THAT FIRST SCANNING DEVICE, THE CAT SCAN-LIKE DEVICE, COMPLETELY CHANGED RADIOLOGY, GUESS WHAT, THESE SEQUENCING STEUMENTS, THEY’RE CHANGING GENOMICS, CHANGING BIOMEDICINE, IT’S ALL BECAUSE TECHNOLOGY HAS GRIFFIN THIS SO HARD, SO FAST AND SO REMARKABLY EFFECTIVELY. SO, THAT HAS BEEN THE FIRST — OR THE SECOND HIGHLIGHT ON MY HIGHLIGHT REAL. I REEL. I WANT TO TAKE YOU TO THE 2011 STRATEGIC PLAN BECAUSE IT WILL SORT OF TELL YOU THE PROGRESSION FOR OUR NEXT SET OF HIGHLIGHTS. THE JOURNEY THAT WE DESCRIBED STARTING IN 2011 WAS ONE THAT MOVED US ALONG FROM LEFT TO RIGHT BECAUSE WE MOSTLY HAD BEEN LEARN BGHT STRUCTURE OF GENOMES ON THE FAR LEFT. WE REALIZED HAVING THAT TECHNOLOGY CAPABILITIES, WE NEED TO NOW EXPAND OUR ANALYSES TO BETTER UNDERSTAND BITOLOGY OF GENOMES, EVENTUALLY USE THAT INFORMATION TO UNDERSTAND HOW GENOMICS PLAYS A ROLE IN HUMAN DISEASE, AND IF WE COULD GET THAT FAR, WE’D BE ABLE TO GET INSIGHTS ABOUT ADVANCING THE SCIENCE OF MEDICINE AND EVENTUALLY HAVING IDEAS FOR IMPROVING THE EFFECTIVENESS OF HEALTHCARE BY USING GENOMIC INFORMATION. THIS PROGRESSION REALLY BECAME A GUIDE. IF YOU WILL, THE KIND OF STEPS THAT WERE GOING TO BE NEEDED TO REAL I’D GENOMIC MEDICINE. HOW HAVE WE DONE ON SEEING THOSE STEPS COME TO PASS? AND I THINK WE’VE DONE WELL, ALTHOUGH WE CERTAINLY HAVE A LOT MORE TO DO. THE THIRD HIGHLIGHT REALLY RELATES TO THIS IDEA THAT THE REASON WE GENERATED BETTER WAYS OF SEQUENCING GENOMES IS BECAUSE WE WANTED TO SEQUENCE GENOMES. WE DIDN’T WANT TO JUST SEQUENCE ONE GENOME. WE’RE NOT INTERESTED IN A HYPOTHETICAL REFERENCE GENOME ALONE. WE’RE VERY INTERESTED IN OUR GENOMES AND WE’RE INTERESTED IN HOW OUR GENOMES DIFFER FROM EVERYBODY ELSE’S GENOMES. EEFNTLY WE WANT TO BE INTERESTED IN OUR PATIENTS’ GENOMES. SO WE WANT TO SEQUENCE A LOT OF PEOPLE’S GENOMES AND THE GOOD NEWS IS WE’VE DONE THAT NOW. WE’VE SEQUENCED TENS OF THOUSANDS, ACTUALLY WE BELIEVE IT’S HUNDREDS OF THOUSANDS OF HUMAN GENOMES HAVE NOW BEEN SEQUENCED. THE REASON WE DID THAT AND CONTINUE TO DO THAT IS WE WANT TO KNOW NOT HOW WE’RE THE SAME, WE WANT TO KNOW HOW WE’RE DIFFERENT. FOR OUR HEALTH AND WELL-BEING. APPRECIATE A LITTLE ABOUT HUMAN GENOMIC VARIATION. SO IF YOU TAKE A STRETCH OF DNA AND YOUR GENOME, FOR EXAMPLE, ANY GIVEN STRETCH, AND YOU SCAN ACROSS IT, YOU BASICALLY DIFFER ABOUT 1 OUT OF A THOUSAND BASES COMPARED TO, LET’S SAY, THE PERSON SITTING NEXT TO US. SO ALL OF US ARE 99% IDENTICAL WITH BUT THAT MEANS — SO YOUR GENOME, YOU HAVE ABOUT 3 TO 5 MILLION DIFFERENCES IN YOUR GEE NOPE COMPARED TO THE PERSON SITTING NEXT TO YOU. YOU HAVE OTHER KINDS — WE JUST KEEP IT SIMPLE AND LOOK AT SINGLE LETTER DIFFERENCES, SINGLE BASE OR SINGLE NUCLEOTIDE DIFFERENCES. ABOUT THREE TO 5 MILLION OF THEM. BUT BY THE WAY, MOST OF THOSE 3
TO 5 MILL
ION VARIANTS, SOMEBODY ELSE PROBABLY HAS. MOST OF THEM ARE COMMON VARIANTS, THEY EXIST IN A FEW AMOUNT IN THE POPULATION. MOST OF THEM ARE QUITE COMMON. OF COURSE WE’RE INTERESTED IN THAT. WE WOULD LOVE TO HAVE A DEEP CATALOG OF THE VARIANTS THAT EXIST IN THE WORLD POPULATIONS. WE WANT TO KNOW WHICH ONE OF THOSE ARE MEDICALLY OR FUNCTIONALLY IMPORTANT. TURNS OUT THAT MOST, MOST, MOST, MOST, MOST OF YOUR 3 TO 5 MILLION VARIANTS ARE INCONSEQUENTIAL, THEY HAVE NO INFLUENCE ON YOUR PHYSIOLOGY, YOUR HEALTH OR WELL-BEING. BUT A IS UP D SET OF YOUR VARIANTS ARE CONS QINGS. WE’D LIKE TO KNOW THOSE SUBSET OF VARIANTS THAT MAYBE AREN’T THE BEST, MAYBE THEY CON FIR RISK FOR GETTING THE DISEASE, BUT THERE’S OTHERS YOU WANT TO KNOW ABOUT BECAUSE THEY MAY PROTECT YOU FROM GETTING DISEASE OSH ASSOCIATED WITH SOME OTHER POSITIVE ATRI PEUTS. AND THE IDEA WAS SO SINCE MOST VARIANTS ARE RELATIVELY COMMON, WOULDN’T IT MAKE SENSE TO GENERATE REALLY BIG CATALOGS OF THE MOST COMMON VARIANTS THAT EXIST IN THE WORLD, PUT IT UP ON THE INTERNET FOR EVERYBODY TO STUDY, THEN HAVE GIANTS FIGURE OUT WHICH VARIANTS ARE — DO THIS VERY SYSTEMATICALLY, AND THAT MIGHT BE A PATH TO FIGURE OUT WHICH OF THE VARIANTS CAN WE IGNORE, WHICH DO WE WANT TO PAY ATTENTION TO. THERE HAVE BEEN A NUMBER OF PROJECTS PERFORMED THAT HAVE BASICALLY TRIED TO SEQUENCE LOTS OF PEOPLE’S GENOMES, CATALOG THE VARIANTS, MAKE THEM AVAILABLE ON THE INTERNET. THEY’VE BEEN INCREDIBLY SUCCESS UL IF IN TERMS OF GIVING
UNSITES& ABOUT THE MOST COMMON VARIANTS THAT EXIST ACROSS THE WORLD’S POPULATIONS. TO GIVE YOU A SENSE, WHEN THE GENOME PROJECT ENDED 15 YEARS AGO, THERE WERE PROBABLY A FEW TENS OF THOUSANDS OF PLACES WE KNOW PEOPLE DIFFERENT. WE KNOW IT’S APPROACHING ABOUT A 1,000 — ALL THAT IS AVAILABLE TO RESEARCH SCIENTISTS. SO WE’VE GONE FROM VERY LITTLE INFORMATION TO HAVING VERY DENSE AND RICH CATALOGS THAT YOU CAN ALL UTILIZE, THE MOST COMMON VARIATIONS IN THE THANK HUMAN
GENOME ACROSS THE WORLD’S POPULATIONS. THAT’S WONDERFUL. NOARND, JUST BECAUSE YOU HAVE A VARIANT, YOU CAN’T IMMEDIATELY KNOW WHETHER THAT VARIANT IS FUNCTIONALLY SIGNIFICANT OR NOT, BECAUSE WHAT YOU NEED IS KNOWLEDGE ABOUT HOW THE THANK
THE HUMAN GENOME ACTUALLY WORKS, AND WILL EVER YOU’LL KNOW HAVE A SPELLING DIFFERENCE — HOW VSM WE BEEN DOING IN INTERPRETING THAT HUMAN GENOME SEQUENCE? WE’VE DONE WELL. WE HAVE A LONG WAY TO DID, WE’VE DONE WELL. I THINK WE HAVE MADE PROFOUND ADVANCES, BUT NOTICE WE DON’T HAVE COMPLETE INSIGHTS ABOUT HOW THE HUMAN GENOME FUNCTIONS. SO LET ME TELL YOU WHAT WE KNOW, WHAT WE DON’T KNOW. SO SHOWN HERE IS THE HUMAN GENOME SEQUENCE, WELL, ACTUALLY NOT, IT’S ONLY .0001% BUT YOU GET THE IDEA. NOW LET ME BE CLEAR. THE HUMAN GENOME PROJECT DELIVERED THE SEQUENCE. IT DIDN’T DELIVER AN INTERPRETATION. NEVER MADE THAT PROMISE. THAT WAS WHAT WAS GOING TO HAPPEN AFTER GOING FROM THIS BASIC Gs, As, Ts AND Cs TO ACTUALLY KNOWING WHERE ARE THE FUNCTIONAL SEQUENCES, THE JEAN GENES, THAT’S A LOT HARDER AND WILL TAKE LONGER THAN THE GENOME PROJECT, BUT WE’RE MAKING PROGRESS. WE’VE GOTTEN REALLY GOOD AT UNDERSTANDING WHERE ARE THE PARTS OF THE HUMAN GENOME THAT DIRECTLY CODE FOR PROTEINS, IN OTHER WORDS, PROTEIN CODING GENES, AND WE HAVE A PRETTY GOOD CATALOG IN THE SEQUENCES THAT CODE FOR PROTEIN, ABOUT 1.5% OF THE THE LETTERS OF ALL OF THE HUMAN GENOME. A VERY, VERY, VERY SMALL FRACTION CODES FOR PROTEINS. BUT WE KNOW WE HAVE ABOUT 20,000 GENES, WE’VE GOT A GREAT CATALOG, THAT’S ALL WONDERFUL. HERE’S THE TWIST. THE TWIST IS, THAT’S ACTUALLY NOT WHERE WE’RE COMPLICATED. WE HAVE A FAIRLY — AS A SPECIES HAVE A FAIRLY MODEST NUMBER OF GENES, AN OUR COMPLEXITY TURNS OUT WHAT IS OFTEN REFERRED TO AS THE TARK SIDE OF THE HUMAN GENOME. IT’S THE SIDE OF THE THE HUMAN GENOME THAT WE ACTUALLY KNOW IS FUNCTIONALLY IMPORTANT BECAUSE IT’S ACTUALLY CONSERVED THROUGHOUT EVOLUTION, THERE’S LOTS OF PLACES IN OUR GENOME THAT DON’T ENCODE FOR GENES, AND YET YOU CAN GO BACK AS FAR AS REPTILES AND BIRDS AND FIND THOSE SAME EXACT SEQUENCES THAT ARE HIGHLY CONSERVATIVE, EVOLUTION HAS HELD ON TO THEM BECAUSE THEY’RE INCREDIBLY IMPORTANT, WE JUST DON’T TOTALLY KNOW WHY THEY’RE IMPORTANT SO THAT’S THE DARK SIDE OF THE GENOME. IT TURNS OUT WE USE A DIFFERENT COLOR TO HIGHLIGHT THOSE, IT’S A MUCH — UPWARDS OF MAYBE 10 OR 20% OF OUR GENOME, IS NOT CODING. WE’RE GETTING BETTER AND UNDERSTANDING THIS. THESE ARE SEQUENCES THAT ARE INVOLVED IN REGULATING GENES AND PLAYING OTHER ROLES IN HOW OUR DNA GETS REPLICATED AND
PACKAGEED AND BASICALLY HOW CHROMOSOMES FUNCTION, BUT IT’S STILL NOT QUITE APPARENT EXACTLY HOW ALL THOSE SEQUENCES WORK. THAT REMAINS A PRETTY BIG CHALLENGE, ALTHOUGH WE’VE MADE GREAT PROGRESS IN CATALOGING THESE SEQUENCES AND BEGINNING TO UNDERSTAND WHAT THEY MIGHT BE DOING. THE OTHER THING WE’VE LEARNED IN THE LAST 15 YEARS IS THAT WE CAN’T JUST PAY ATTENTION TO THE ORDER OF THE Gs, As. Ts AND Cs IN OUR GENOME BUT RATHER THERE’S A WHOLE OTHER GENOMIC CODE. THERE’S A WHOLE OTHER CODE RELATED TO EPIGENOMICS, WHERE OUR DNA GETS DECORATED. IT GETS MODIFIED WITH CHEMICALS, IT GETS ASSOCIATED WITH PROTEINS, AND THESE EPIGENOMIC MARKS ON OUR DNA ARE VERY IMPORTANT FOR GENOME FUNCTION BUT WE’VE GOT REALLY GOOD AT BEING ABLE TO DETECT THOSE MARKS. SO THERE’S THIS WHOLE THIRD LANGUAGE OF DNA OR HERE IT’S CALLED THE SECOND GENOMIC CODE WHERE WE NEED A THIRD COLOR TO ANNOTATE WHAT PARTS OF THE HUMAN GENOME GET EPIGENOMIC MARKS AND UNDER WHAT CONDITIONS AND SO FORTH. IT’S ONE OF THE WAYS THE ENVIRONMENT LIKELY INFLUENCES OUR GENETIC, IS THROUGH EP GENOMICS, AND WE’RE UNDERSTANDING IT MORE AND MORE BUT WE HAVE A LONG WAY TO GO. THE OTHER OH THING WE’VE COME TO APPRECIATE IN THE LAST 10 YEARS IN PARTICULAR IS DO NOT THINK OF DNA AS A NICE, INNOCENT LINEAR MOLECULE ON THE INSIDE OF CELLS, BUT PRYOR YOU MUST APPRECIATE THAT THE GENOME IS A THREE-DIMENSIONAL STRUCTURE AND WE ARE LEARNING THAT DNA IN ITS SORT OF EXAT FORM IN THE NUCLEUS OF CELLS ACTUALLY HAVE SOME FUNCTIONAL ASPECTS TO IT RELATED TO DIFFERENT PARTS OF DIFFERENT CHROMOSOMES THAT INTERACT WITH ONE ANOTHER IN WAYS THAT WE’RE JUST BEGINNING TO CHARACTERIZE, SO THERE’S A WHOLE THREE DIMENSIONAL LANGUAGE AND WE HAVE A LOT MORE TO LEARN. SO IT IS SORT OF, I WOULD SAY, SORT OF A FULL COURT PRESS ON TRYING TO UNDERSTAND HOW THE HUMAN GENOME WORKS. WE’VE GONE FROM KNOWING ABOUT THIS MUCH TO MAYBE KNOWING ABOUT THIS MUCH, ULTIMATELY WE NEED TO KNOW THIS MUCH, RIGHT THE? SO WE HAVE MULTIPLE WAYS WE ARE CONTINUING TO APPROACH THIS. WE HAVE MAJOR INTERNATIONAL CONSORTIUM THAT CONTINUE TO WORK TOGETHER TO TRY TO DO ALL SORTS OF COMPUTATIONAL ANAL SEIZE AND LABORATORY BASED ANALYSES TO BASICALLY — THERE’S A CONSTANT EFFORT TO GO BACK AND FORTH BETWEEN THE HUMAN GENOME AND MODEL ORGANISM GENOMES AND BEING ABLE TO USE THE POWER AND EVEN EVEN NON-CODING PORTIONS TO UNDERSTAND HOW THOSE FUNCTION AS WELL, SO A KEY INTERPLAY OF CLEANING THROUGH THE LENS OF ORGANISMS. NOR AND MORE WE NEED EVERYTHING IN DATA SCIENCE THAT COULD BE BROUGHT TO THIS BECAUSE THAT LINEAR CODE IS PRETTY COMPLICATED AND WE NEED TO BASICALLY TRY TO FIGURE OUT EVERY LITTLE NUANCE ASSOCIATED WITH IT. AND IMPORTANTLY, WE CONTINUE TO PROVE TECHNOLOGIES TO TRY TO GET US BETTER AND BETTER INSIGHTS ABOUT THE FUNCTION OF THE HUMAN GENOME. SO WE HAVE A LONG WAY TO GO. I OFTEN REFER TO GENOME INTERPRETATION A MULTIGENERATIONAL PROBLEM. IT WON’T JUST BE MY GENERATION OR EVEN YOUR GENERATION THAT WILL FULLY INTERPRETED TO FINALLY FIGURE OUT MOST OF THE PP — HAVING COME A LONG WAY, WHAT I WOULD SAY IT’S IT’S TIME TO THINK ABOUT VARIATION SUPERIMPOSED UPON SO NOBODY —
IT MAY INFLUENCE THE FUNCTIONS OF THE GENOME, WHICH OF THE SUBSET OF GENETIC VARIANTS ACTUALLY INFLUENCES US AN INFLUENCES OUR — WE’VE MADE PROGRESS IN STARTING TO LOOK AT THE TRAITS WE’RE MOST INTERESTED IN, HUMAN DISEASE. I WOULD CONTEND THAT HERE IN 2018, WE HAVE MADE SIGNIFICANT ADVANCES IN UNRAVELING THE GENOMIC BASIS. TO REALLY APPRECIATE HUMAN GENETIC DISEASE, WHICH BASICALLY ARE ALL DISEASES HAVE AT LEAST A GENETIC AND GENOMIC INFLUENCE, RILEY HAVE TO APPRECIATE THAT THEY COME SORT OF IN MAJOR CATEGORIES. THE SIMPLEST ALTHOUGH IMPERFECT WAY OF THINKING ABOUT IT ARE SORT OF RARE DISEASES AND COMMON DISEASES. SO LET ME TELL YOU ABOUT EACH. SO ON THE ONE HAND, YOU HAVE RARE DISEASES. THESE ARE DISEASES THAT, LIKE SICKLE CELL ANEMIA, CYSTIC FIBROSIS, HUNTINGTON’S DISEASE IT TURNS OUT THAT THEY’RE SORT OF SIMPLE AT A GENOMIC LEVEL BECAUSE IT BASICALLY INVOLVES MUTATION TO BREAK A SINGLE GENE. MOST OF THESE ARE SINGLE DPEEN OR MONOGENIC DISORDERS, AFTER THE FAMIST — YOU HAVE MUTATIONS IN THE GENES, YOU GET THE DISEASE. THERE MIGHT BE SOME OTHER VARIANTS IN THE GENOME, THERE MIGHT EVEN BE SOME VIERT TALL CONTRIBUTION. HERE THERE’S BEEN GREAT PROGRESS BECAUSE IT’S A SIMPLE PROBLEM ONCE YOU HAVE ALL THESE THINGS, WE’VE MADE GREAT PROGRESS, ESPECIALLY THE LAST 15 YEARS. LET ME PUT A NUMBER ON IT. THE DAY THE HUMAN GEE NOME PROJECT GEAN,. 61 RATHER DISEASES THAT WE KNEW WHAT GREEN GENE WAS MUTATED TO CAUSE THE DISEASE. 61. FAST FORWARD TO TODAY, THAT NUMBER IS ABOUT 4800, NEARLY 5,000. SO THAT’S REMARKABLE. WE NOW KNOW THE GENOMIC BASIS OF ALMOST 5,000 GENETIC DISEASES, NOW THERE’S STILL A COUPLE THOUSAND MORE THAT WE HAVEN’T FIGURED OUT. WE’RE WORKING ON THAT, LOTS OF MAJOR BUT WE STILL HAVE GREAT INROADS TO THAT. HERE’S THE THING, WE WE NEED TO ALSO CAUTION OURSELVES TO RECOGNIZE THAT RARE DISEASES ARE NOT THE MAJOR HEALTHCARE BURDENS WORLDWIDE. IT’S NOT WHAT FILLS HOSPITALS AND CLINICS AROUND THIS WORLD. WHAT FILLS HOSPITAL AND CLINICS AROUND THIS WORLD ARE THESE DISEASES. THESE ARE COMMON DISEASES. THESE ARE DISEASES LIKE HYPERTENSION, DIABETES, CARDIOVASCULAR DISEASE, MENTAL ILLNESS, AUTISM, ALZHEIMER’S. THESE ARE DISEASES COMMON TO THE POPULATION, BUT TURNS OUT THEY’RE COMPLICATED AT A GENETIC AND GENOMIC LEVEL BECAUSE IT INVOLVES MULTIPLE QUEEN GENES. IT’S NOT A SINGLE GENE THAT’S BROKEN WHEN YOU GET THE DISEASE BUT IT’S MULTIPLE GENOMIC CONTRIBUTION THAT ALL HAVE A SMALL CONTRIBUTION TO THE RISK FOR DISEASE, AND IT’S OFTEN AND ALMOST ALWAYS A GREATER INFLUENCE OF OTHER ENVIRONMENTAL FACTORS, LIFESTYLE FACTORS AND SO FORTH. SO TEASING OUT THESE SMALL CONTRIBUTIONS END UP BEING MUCH MORE DIFFICULT. SO WHERE WE’VE MADE GREAT PROGRESS SO FAR IN RARE DISEASES, WE CAN LOOK AT THAT IN THE REARVIEW MIRROR, WITH COMMON DISEASES, THERE’S ONLY A LITTLE BIT WE CAN SEE IN THE MIRROR, MOST OF OUR ACCOMPLISHMENTS ARE GETTING BETTER, THEY INVOLVE IN VE LARGE STUDIES SO YOU GET ENOUGH STATISTICAL POWER TO SEE THESE SMALL CONTRIBUTIONS COME UP TO BE SPECIFICALLY CONSISTENT. YOU’LL HAVE A BETTER AND BETTER INSIGHT THAT WILL BE GAPED WITH THESE SMALL GENETIC — HYPERTENSION, DIABETES, ASTHMA, CARDIOVASCULAR DISEASE, THESE PROJECTS ARE ALL ONGOING, PRAKICALLY EVERY INSTITUTE AT NIH IS WORKING ON THEM WEE GETTING SOME EARLY INSIGHTS THAT ARE ACTUALLY QUITE REVEALING AND QUITE GRATIFYING. SO THOSE ARE MY FIRST FIVE HIGHLIGHTS. I WILL TELL YOU HONESTLY THAT ABOUT FIVE YEARS AGO, MAYBE SIX YEARS AGO WHEN I WOULD GIVE A TALK LIKE THIS, THIS SOMEWHERE I’D SAY, DO YOU HAVE ANY QUESTIONS BECAUSE WE’RE DONE. AND THE GOOD NEWS IS I DON’T HAVE TO STOP MY TALK HERE ANYMORE, BECAUSE WE ACTUALLY GET TO ADD A HIGHLIGHT. I CAN NOW TALK ABOUT VIVID EXAMPLES OF GENOMIC MEDICINE THAT’S JUST EMERGING AND THAT JUST WASN’T THE CASE FIVE YEARS AGO. IT’S VERY GRATIFYING TO SEE BECAUSE IT MEANS WE REALLY ARE PROGRESSING DOWN THIS JOURNEY TOWARDS — WE ARE BEGINNING TO BRING GENOMIC MEDICINE INTO FOCUS. WE ALWAYS KNEW IT WAS OUT THERE SOMEWHERE, WE DIDN’T REALLY KNOW WHAT IT WASSING IT WAS GAG TO
LOOK LIKE, AND WHAT I’M GOING TO SCRIBE NOW ARE SOME OF THE EARLIEST EXAMPLES, BUT BELIEVE ME, IT’S THE TIP OF THE EISENBERG, AND I’VE BEEN DELIGHTED TO KNOW THAT THERE IS A TIP TO THIS ICEBERG AND THAT WE COULD POINT TO THESE THINGS. WHAT’S ACTUALLY INTERESTING, I THINK THERE’S OTHERS OH OUT THERE EVEN MORE OPTIMISTIC THAN I AM THAT GENOMIC MEDICINE THAT BECOME A REALITY. I WAS REALLY SURPRISED TWO YEARS AGO WHEN THIS MAGAZINE CALLED MODERN HEALTHCARE DID A SURVEY OF ITS READERS AND THEY ASKED THE READERS, OVER THE LAST 40 YEARS, WHAT HAS BEEN THE TOP RATED SET OF ADVANCES AND THEY ACTUALLY CAME BACK AND SAID THE TOP ADVANCE OVER THE LAST 40 YEARS IN HEALTHCARE HAS BEEN SEQUENCING OF THE HUMAN GENOME. I DON’T THINK IT WAS BECAUSE OF WHAT WE ACCOMPLISHED, I THINK THEY SAW THIS POTENTIAL OF WHAT WE WERE GOING TO SEE SORT OF BE INFLUENCED IN MEDICINE BECAUSE OF SEQUENCING OF THE HUMAN GENOME. SO WHAT WERE THESE READERS SO EXCITED ABOUT AND WHY AM I SO EXCITED THAT I DON’T HAVE TO STOP MY TALK AT THIS POINT? I THINK THERE’S PROBABLY ABOUT FIVE HOT AREAS IN GENOMIC MEDICINE. THE FIRST FOUR IN PARTICULAR REALLY ARE DEMONSTRATING THAT GENOMIC MEDICINE IS HERE OR BEGINNING TO BE HERE IN CERTAIN PARTS OF THE MEDICAL — OF MEDICAL PRACTICE. SO I’M GOING TO GO THROUGH THESE FAIRLY QUICKLY BUT I THINK THEY’LL ILLUSTRATE TO YOU THAT IT’S NOT HYPOTHETICAL ANYMORE, IT REALLY IS COMING INTO BEING, AND I THINK FOR THOSE WHO ARE THINKING ABOUT PROFESSIONS IN MEDICINE, HEADING OFF TO MEDICAL SCHOOL, THIS IS STUFF THAT YOU’LL BE A PART. NOT JUST SEEN IN THE EARLY DAY, YOU’LL BE A PART OF REALLY OPERATIONALLIZING SOME OF THIS. WENT SO WHAT ARE SOME OF THESE HOT AREAS? LET’S START WITH PROBABLY THE OBVIOUS ONE, CANCER. ACTUALLY THE HOTTEST AREA IN GENOMIC MEDICINE RIGHT NOW. IF YOU’RE NOT I A WEAR OF THIS, CANCER IS A DISEASE OF THE GENOME, IT IS A GENOMIC DISEASE. CANCER IS NOTHING MORE THAN NORMAL CELLS PICKING UP MUTATIONS TO THE POIND THAT THOSE CELLS NO LONGER ARE IN CONTROL WHEN THEY GROW, AND THEY FORM A TUMOR. WHAT WE’RE ABLE TO DO, BY THE WAY, IS WE CAN OPEN UP A TUMOR CELL AND READ ITS GENOME JUST AS EASILY , AND WHAT’S GOING ON? AMONG THE MANY TENS OF THOUSANDS OF HUMAN GENOMES THAT HAVE BEEN SEQUENCED, MANY OF THOSE BECOME CANCER GENOMES. THEY THOUGHT THIS WOULD BE INCREDIBLY VALUABLE TO START READING OUT THE COMPLEES SEQUENCE OF CANCERS, AND IT HAS BEEN TRANSFORMATIVE. AND I THINK ALL OF CANCER RESEARCH AND INCREASINGLY CANCER CARE IS GOING TO CHANGE BECAUSE OF THE INFUSION OF GENOMICS. I THINK ABOUT IT IN PARTICULAR, IT’S GIVING US INSIGHTS ABOUT THE CAUSES OF CANCER AT A GENOMIC LEVEL. I THINK ABOUT IT FROM A DIAGNOSTIC POINT OF VIEW, MAYBE AGAIN BECAUSE I’M A DIAGNOSTICIAN BY CLINICAL TRAINING, A PATHOLOGIST LOOKS AT THE TUMOR FROM THAT PATIENT AND TRIES TO FIGURE OUT EVERYTHING THEY CAN ABOUT THE TUMOR IN THAT PATIENT. BUT ALL THEY COULD DO IS VISUALIZE WHAT THEY COULD SEE OVER A TOOL HERE, BECAUSE NOW WE CAN SEQUENCE THE GENOME OF THAT TUMOR AND WE CAN TAKE — SORT OF MAKE MAPS OF THE ARRANGEMENTS
ARRANGEMENTS
OF THE GENOME IN THAT PATIENT IN THAT TUMOR, AND WE CAN AUGMENT BASIC INFORMATION ABOUT MORPHOLOGY WITH INFORMATION ABOUT CHANGES IN THE GENOMIC SIGNATURE AND USE THAT TOGETHER TO BASICALLY HAVE MUCH BETTER WAYS OF SUBTYPING THE DIFFERENT KINDS OF CANCER BUT ALSO MAKING PREDICTIONS ABOUT PROGNOSIS AND BEST TREATMENT OPTIONS. THIS IS CHANGING, SO MANY THINGS ABOUT CANCER, I CAN’T EVEN TELL YOU. IT’S A TALK IN AND OF ITSELF. NEEDLESS TO SAY, I THINK THAT LIST WILL GROW CONSIDERABLY IN THE COMING DECADE, AND BY THE TIME YOU GUYS ARE OUT OF MEDICAL SCHOOL, I TBAIRN TEE YOU GENOMICS IS GOING TO BECOME A MAINSTAY AROUND THE WORLD. SECOND AREA, HOT BECAUSE IT’S HERE AND NOW FOR SOME IN SOME SETTINGS, I THINK THIS LIST WILL GROW. IT’S A BIG WORD BUT YOU CAN BREAK IT DOWN. PHARMACOGENOMICS. IT’S GIVING OUT PRESCRIPTION MEDICINE BASED ON GENOMIC INFORMATION. IT IS REMARKABLE AND I THINK ALL OF YOU ARE AWARE OF THIS THIS PROBABLY, HOW IMPRECISE WE ARE IN THE PRESCRIBING MEFDCATIONS. MANY OF YOU, EITHER YOURSELF OR YOUR FAMILY MEMBERS, HAVE — IT EITHER MAKES YOU WORK OR IT MAKES YOU SICKER. IT’S NOT BECAUSE THE DOCTOR WAS MEAN AND WANTED TO HURT YOU, IT’S BECAUSE THE DOCTOR WAS BLIND TO WHETHER IT WAS GOING TO WORK FOR YOU OR NOT. LOOK AT THE IMPRECISE NATURE OF MEDICINE. SO SHOWN HERE 10 COMMONLY PRESCRIBED MEDICATIONS WHERE IT IS KNOWN THAT EVERY INDIVIDUAL SHOWN IN BLUE WHERE THE MEDICATION WORKS OH, ARE ALL — THE MEDICATION DOESN’T WORK. THE PROBLEM IS, YOU DON’T KNOW WHEN A PATIENT IS SITTING IN FRONT OF YOU WHETHER THEY’RE BLUE OR RED. EXCEPT GUESS WHAT, WE’RE LEARNING THAT INCREASINGLY THE REASON WHY SOME OF US ARE RED AND SOME ARE BLUE IS BECAUSE WE HAVE VARIANTS IN DRUG METABOLISM PATHWAYS THAT INFLUENCE WERE WE’RE GOING TO BE A GOOD IDEA OR BAD IDEA. SELECTING THE RIGHT DRUG FOR YOU AMONG A SET OF OPTIONS. SO WHAT PHARMACOGENOMICS IS, WHEN YOU HAVE TO KE SIDE WHAT MEDICATION TO GIVE A PATIENT, PICK A MEDICATION BASED ON YOUR UNIQUE GENOMIC PROFILE, AND KNOWING WHICH VARIANTS INFLUENCE WHICH DRUG METABOLISM PATHWAYS AND PICK THE MEDICATION THAT’S MOST LIKELY TO WORK FOR YOU. THIS WAS ALL HYPOTHETICAL UNTIL WE BEGAN TO GET AT KNOWLEDGE ABOUT INFLUENCING DRUG RESPONSE, AND NOW THE IDEA IS THAT IT’S HERE AND NOW FOR SOME MEDICATIONS, WHERE YOU CAN TAKE PATIENTS ALL WITH THE SAME DIAGNOSIS, DO A GENOMIC ANALYSIS OF THEM AND STRATIFY THEM, FIGURE OUT THE ONES TO GIVE A MEDICATION TO, DECIDE THE ONES NOT TO GIVE MEDICATION TO AND SO FORTH THE. SO WHILE THIS MAYBE IS SORT OF MAINSTREAM FOR A FEW DOZEN MEDICATIONS, IT’S EXPECTED THAT LIST WILL GROW CONSIDERABLY IN THE COMING YEARS. NEXT HOT AREA, ABSOLUTELY HERE AND NOW, SOME OF IT HERE AND NOW IN THIS BUILDING ITSELF AT THE NIH CLINICAL CENTER. THE USE OF GENOMICS FOR THE DIAGNOSIS OF RARE GENETIC DISEASES. NOW HERE, IT HAS COME FAST AND FURIOUS, AND I HAVE WATCHED — I’VE WITNESSED THIS SORT OF AMAZED AT HOW QUICKLY WE’VE GONE FROM REALLY NOT BEING ABLE TO USE GENOMIC INFORMATION TO DIAGNOSE A PATIENT WITH AN UNKNOWN DISORDER TO NOW HAVING THIS BE FAIRLY ROUTINE. FOR A LONG TIME THEY SAID WOULDN’T IT BE WONDERFUL IF WE SEQUENCE SOMEBODY’S GENOME WHEN THEY’RE SICK AND DECIDE WHAT’S WRONG WITH THEM FOR THE FIRST TIME. THAT ALL SEEMED HYPOTHETICAL UNTIL THE YEAR 2011, THEN IT WAS SORT OF THE FIRST EXAMPLE, FIRST SET OF EXAMPLES, THIS BOY FROM MILWAUKEE AND THESE TWINS IN SAN DIEGO. EACH OF THEM WERE REALLY HEADING TOWARDS A VERY BAD MEDICAL OUT OUTCOME AND ALMOST IN DESPERATION DECISION WAS MADE TO SEQUENCE THEIR GENOMES. THEY WERE VERY FORTUNATE THAT THEY COULD FIGURE OUT WHAT THE MUTATION WAS THAT WAS CAUSING THE DISEASE AND THEY WERE VERY FORTUNATE BECAUSE NOT ALWAYS THE CASE, THERE WAS A DECISION THAT COULD BE PAID ABOUT A TREATMENT OPTION BASED ON THE MUTATION THAT WAS FOUND. IN BOTH CASES THE MEDCALITY INTERVENTION WORKED, THESE KIDS ARE ALIVE, IN COLLEGE, DOING QUITE WELL, AND IT HAS BEEN TRULY BREATHTAKING TO SEE THIS HAPPEN IN 2011. NATURE PREDICTED BY 2014 THAT YOU KNOW WHAT YOU IF YOU DON’T KNOW WHAT’S WRONG WITH A PATIENT AFTER STANDARDS TESTS, JUST SEQUENCE THEIR GENOME. SO WHAT I CAN TELL YOU IS THAT A COUPLE — LITERALLY EVERY MONTH HUNDREDS IF NOT THOUSANDS OF PATIENTS ARE GETTING THEIR GENOMES SEQUENCED. YOU DON’T ALWAYS GET AN ANSWER, WHEN YOU GET AN ANSWER, MAYBE ABOUT HALF THE TIME. THAT’S GROWING WITH TIME. EACH WHEN YOU GET AN ANSWER YOU DON’T ALWAYS HAVE A TREATMENT OPTION BUT SOMETIMES YOU DO. WHERE YOU ACTUALLY LEARN SOMETHING AND CAN DO SOMETHING ABOUT IT THAT SAYS WE SHOULD JUST BE DOING THIS, SO THIS IS ABSOLUTELY BECOMING MAINSTREAM. THE OTHER SETTING THIS IS BECOMING MAINSTREAM AND WAS FIRST DEMONSTRATED IN THIS HOSPITAL WAS THIS IDEA OF WHAT DO YOU DO WITH PATIENTS WHO HAVE JUST NEVER GOTTEN A DIAGNOSIS, HAVE GONE AROUND A LONG TIME IN THEIR LIVES, IN THE THE CASE OF A DULTS, OR MANY CHILDREN WHERE THEY GO FROM HOSPITAL TO HOSPITAL, MEDICAL CENTER TO MEDICAL CENTER, DOCTOR TO DOCTOR AND THEY CAN’T GET A DIAGNOSIS. THE IDEA WAS, IS THERE A WAY TO USE SORT OF A REALLY CRITICAL FINAL CLINICAL EVALUATION COUPLED WITH GENOMIC ANALYSIS SHOWN HERE IS THE TEAM OF THE UNDIAGNOSED DISEASES PROGRAM THAT STARTED HERE IN THE CLINICAL CENTER AT THE NIH AND ACTUALLY WAS SO SUCCESSFUL AT SORT OF DEMONSTRATING THE VALUE OF HAVING SUCH AN APPROACH AND NOW WE HAVE A NATIONAL NETWORK OF UNDIAGNOSED DISEASE CENTERS THAT BASICALLY REFER PATIENTS IN WHO DON’T HAVE A DIAGNOSIS AND USE A COMBINATION OF VERY RICH CLINICAL EVALUATION COUPLED WITH CLINICAL ANALYSIS, AND SIMILAR PROGRAMS ARE POPPING UP ALSO THANKS TO THE KIND CH ADVANCES DEVELOPED HERE. THE FOURTH HOT AREA IS ACTUALLY TWO STORIES. THEY BOTH RELATE TO PREGNANCY. AND HERE ONE OF THEM IS REALLY HOT, THE FIRST ONE. THE SECOND ONE IS A BIT OF A QUESTION MARK BUT IS WORTH ALL OF YOU THINKING ABOUT. LET ME BREAK DOWN THE GENOMICS OF PREGNANCY IN A VERY SIMPLE WAY, PRENATAL, POSTNATAL. THERE’S TWO DIFFERENT STORIES. PRENATAL STORY FIRST, THE IDEA OF PRENATAL GENETIC TESTING IS NOT NEW. IT’S ACTUALLY BEEN AROUND FOR DECADES. MANY PARENTS WAND TO HAVE GENETIC TESTING DONE OF THEIR CHILDREN BEFORE THEY’RE BORN, MOSTLY LOOKING FOR ABNORMAL NUMBERS OF CHROMOSOMES
CHROMOSOME. FOR A LONG TIME, THIS APPROACH HAS BEEN QUITE HEAVILY UTILIZE BUD IT’S INVOLVED FAIRLY INVASIVE METHODS SUCH AS AMNIOCENTESIS, WHICH I’VE BEEN TOLD IS NOT SO PLEASANT, AND I’M ALSO AWARE THAT IT ALSO RISKS THE VIABILITY OF THE PREGNANCY AT A VERY SMALL% BUT IT’S BEEN USED FOR YEARS TO ACCESS FETAL DNA. BUT YOU ACCESS FETAL FETAL DNA,
CHROME CHROMOSMAL AK NORMT, READ OUTS IN A MORE SOPHISTICATED WAY, BUT IT STILL INVOLVED GETTING TO THAT DNA IN AN INVASIVE WAY. BUT GUESS WHAT? YOU DON’T NEED TO DO IT THAT WAY ANYMORE BECAUSE THEE NEW METHODS HAVE GOTTEN SO EXQUISITELY SENSITIVE THAT THEY ALLOW YOU TO ANALYZE THE FEE TEM DNA THAT NATURALLY SHEDS FROM THE PLACENTA AND FLOATS AROUND IN THE MATERNAL FLOOD BLOOD STREAM. THIS IS KNOWN AS NONINVASIVE PRENATAL GENETIC TESTING AND INVOLVES AS YOU CAN SEE A
SIMPLE& BLOOD DRAW FROM A FREG NANT MOM, WHICH PREGNANT MOMS GET ALL THE TIME. YOU CAN DETECT USING THESE FANCY NEW METHODS, THE SAME AMOUNT OF SCREENING — IS NOW HEAVILY, HEAVILY UTILIZED INSTEAD OF THINGS LIKE AMNIOCENTESIS. TO GIVE YOU A TIP OF HOW THIS BE HAS BEEN, YOU CAN SEE STARTING IN 2012 WORLDWIDE, MAJOR UPTICK IN THE NUMBER OF PREGNANT WOMEN THAT ARE USING THIS TEST AND NOW DAYS IT’S ESTIMATED ?A FOUR TO 6 MILLION WOMEN WORLDWIDE ARE GETTING THIS NONINVASIVE METHOD. IN FACT, ONE COULD ARGUE THIS IS THE NUMBER ONE USE OF GENOMIC MEDICINE IN TERMS OF SHEER NUMBER. 4 TO 6 MILLIN TESTS PERFORMED WORLDWIDE. IT’S ABSOLUTELY BECOME STANDARD OF CARE, THIS IS NOW SORT OF TAKING OVER AS THE MAJOR TOOL USED FOR PRENATAL GENETICS TESTING. THAT’S PRENATAL. HOT. VERY HOT. WHAT ABOUT POSTNATAL, WHAT DO YOU DO WITH A NEWBORN? “TIME” MAGAZINE, FOR EXAMPLE, WONDERED IF FOUR YEARS AGO WHETHER BY 2025 OR SO, EVERYONE WOULD JUST GET THEIR DNA MAPPED, I THINK THEY MEAN DNA SEQUENCED AT BIRTH. BUT, YOU KNOW, THERE’S A LOT OF QUESTIONS ASSOCIATED WITH THAT. THERE’S A LOT OF THINGS WE WANT TO TALK ABOUT OR THINK ABOUT, DO WE WANT TO HAVE A GENOME SEQUENCE OF EVERY CHILD THAT’S BORN IN THE UNITED STATES? WHO WOULD GET THAT INFORMATION, HOW WOULD WE STORE IT, WHO WOULD HAVE ACCESS TO IT, HOW OFTEN WOULD YOU INTERPRET IT, RE-INTERPRET IT. LOTS OF QUESTIONS. UNCLEAR. WE ACTUALLY GOT TOGETHER WITH THE CHILD HEALTH INSTITUTE HERE AT NIH AND WE NOW HAVE A MAJOR PROGRAM STOW DI THIS AS A RESEARCH PROJECT. WHAT DO YOU LEARN FROM A GENOME SEQUENCE THAT YOU DON’T OTHERWISE GET, HOW VALUABLE IS THAT TO PEDIATRICIANS IN EARLY STAGES OF A CHILD’S LIFE, AND SO FORTH. AND WE’RE GOING TO LEARN A LOT OF LOGISTICAL CHALLENGES, A LOT OF ETHICAL CHALLENGES AND WE’VE BEEN STUDYING THIS AND THINKING ABOUT THIS I THINK OVER THE NEXT FIVE, 10 YEARS, WE’LL GET MUCH BETTER INSITES ABOUT THE VARIABILITY OF SEQUENCING EVERY CHILD AT BIRTH. SOMEDAY WE MIGHT DO THAT BUT I THINK THE JURY IS OUT ON WHETHER WE WANT TO PURSUE THAT RIGHT NOW OR NOT. THERE IS ONE SETTING WHERE ONE OF OUR RESEARCH GROUPS THAT WE FUNDED CLEARLY ILLUSTRATED A NEED, AND THAT RELATED NOT TO HEALTHY NEWBORNS BUT TO ACUTELY ILL NEWBORNS. HERE WE’VE SEEN THE PRACTICE OF MEDICINE CHANGE, VERY, VERY RAPIDLY. IN MOST HIGH RISK NEONATAL INTENSIVE CARE UNITS, OFTENTIMES THE NEONATOLOGISTS CAN IDENTIFY CHILDREN WHERE THEY SIMPLY DON’T KNOW WHAT’S WRONG WITH THEM, THEY DON’T KNOW HOW TO TREAT THEM, BEST THEY COULD DO IS PREDICT HOW MANY MORE DAYS THEY’LL LIVE AND ALMOST ARE GIVING UP. FOR THOSE PATIENTS WHAT THIS INVESTIGATOR DID WAS DEVELOP A WAY TO BASICALLY DO A VERY RAPID GENOME SEQUENCE AND INTERPRETATION, SOMETHING LIKE ABOUT 24 HOURS, AND THEY ARE FINDING THAT IN MANY CASES THEY CAN FIGURE OUT WHAT’S WRONG WITH THE CHILD AND IN MANY CASES THEY CAN INTERVENE AND SAVE THE CHILD’S LIFE. THIS MAKES SENSE TO DO AND SO A LOT OF NEONATAL INTENSIVE CARE UNITS FOR VERY RAPID GENOME SEQUENCING TO BE ABLE TO USE THIS AS A FRONT LINE TOOL FOR THOSE WHERE THEY SIMPLY DON’T KNOW WHAT’S WRONG WITH THEM AND THOSE CHILDREN ARE HEADING TOWARDS A BAD OUTCOME IF THEY DON’T AT LEAST ATTEMPT TO SEE IF GENOMIC INFORMATION WILL AID THEIR CLINICAL CARE. LAST HOT AREA IS NOT HOT BECAUSE WE HAVE ACCOMPLISHMENT, IT’S HOT BECAUSE IT’S REALLY CHALLENGING. IT’S SOMETHING FOR MANY OF YOU TO THINK ABOUT AS WELL. IT REALLY RELATES TO THIS IDEA THAT WE NEED INFORMATION SYSTEMS TO HELP US IMPLEMENT CLINICAL GENOMICS. NOW WHY IS THAT SUCH A BURDEN, WHY IS IT THAT WE CAN’T JUST SEQUENCE A PATIENT’S GENOME AND KNOW IMMEDIATELY WHAT TO DO? I’M VERY OPTIMISTIC AS YOU CAN TELL BUT I’M ALSO VERY REALISTIC AT TIMES. THIS IS ONE OF THESE AREAS WHERE I HAVE TO BE VERY HONEST WITH YOU IN TELLING YOU WHAT ONE OF THE BARRIERS IS. THIS IS NOT A BARRIER. GENERATING A GENOME SEQUENCE NOW DAYS, IT’S ACTUALLY ALMOST TRIVIAL. IT’S NOT VERY EXPENSIVE, IT GOES ON EVERY SINGLE DAY ON THIS CAMPUS. GENOME SEQUENCING IS STRAIGHTFORWARD. THAT’S NOT WHAT’S HARD. WHAT’S HARD IS THAT WE CAN GENERATE A SEQUENCE OF ANY PATIENT HERE IN THIS CLINICAL CENTER. THE PROBLEM IS WHEN WE HAVE THAT SEQUENCE, THAT WE CAN EVEN RUN IT THROUGH YOU A COMPUTER PROGRAM AND SPIT OUT THE THREE TO 5 MILLION VARIANTS THAT EXIST IN THAT PATIENT’S GENOME. BUT REALISTICALLY, EVEN WHEN WE GO AROUND ON THAT PATIENT THE NEXT MORNING, THIS IS WHAT WE FEEL LIKE. WE LOOK AT THAT LIST OF VARIANTS AND WE ACTUALLY HAVE NO IDEA WHAT MOST OF THOSE VARIANTS MEAN MEAN. IT’S NOT THAT THERE’S NO KNOWLEDGE ABOUT THOSE VARIANTS BECAUSE ACTUALLY IF YOU GO INTO THE SCIENTIFIC LITERATURE, EVERY WEEK THERE’S DOZENS OF PAPERS THAT COME OUT THAT SAY THIS VARIANT MEANS THIS, THIS VARIANT MEANS THIS, WE THINK THIS MIGHT MEAN THIS, THIS WORM DOES THIS. THE PROBLEM IS, A BUSY ROUNDING HEALTHCARE PROFESSIONAL DOESN’T HAVE TIME TO CULL THROUGH THIS HUGE LITERATURE AND KEEP UP WITH THIS INCREDIBLE ADVANCING KNOWLEDGE ABOUT VARIATION IN GENOME FUNCTION. SO THERE’S A GAP IN OUR ABILITY TO GENERATE THE DATA AND OUR ABILITY TO INTERPRET THE DATA, AND THAT GAP GROWS EVERY SINGLE WEEK. SO THE REAL PROBLEM THAT WE’RE TRYING TO HIT THIS HEAD ON IS, HOW DO WE SORT OF REDUCE TO PRACTICE SO THAT A BUSY PHARMACIST, PHYSICIAN, NURSE, CAN ACTUALLY USE THE INFORMATION IN GENOMICS AND IMMEDIATELY KNOW WHAT TO TELL THE PATIENT. THIS SHOULD ALL INTEGRATE WITH THE ELECTRONIC HEALTH RECORD, THIS SHOULD ALL SIT THERE AND BE READILY PULL UPABLE ON SOME I DEVICE OR SOP TABLET YOU’RE OR
SOME TABLET
IN A CLINICAL WORK FLOW BUT SOMEHOW WE NEED TO GET BETTER HAVING A SIMPLE FLOW OF INFORMATION SO THE BUSY FRONT LINE HEALTH CARE LOW PROA FETIONAL KNOWS WHAT DO WHEN THEY ENCOUNTER A PATIENT WITH GENOMIC INFORMATION AND KNOW WHAT IT MEANS. WE ARE NOT THERE YET. IT’S REALLY A RESEARCH PROJECT AS MUCH AS ANYTHING ELSE, IT IS A GRAND CHALLENGE. I WOULD NOT BE SURPRISED IF THOSE OF YOU WHO GO INTO MEDICINE WITH, WHEN YOU START TO ENCOUNTER GENOMICS, YOU WILL FACE SOME OF THIS HURDLE BECAUSE IT’S NOT GOING TO BE FIXED IN THE NEXT FIVE YEARS, ALTHOUGH WE’RE WORKING ON IT, IT REALLY REPRESENTS A GRAND CHALLENGE FOR THE NEXT FIVE TO 10 TO 20 YEARS. SO THOSE ARE THE HOT AREAS. WHAT I WANT TO DO AND I’M GOING TO TRY TO GO QUICK ALTHOUGH I DO WANT TO COVER A FEW MORE THINGS AND THERE’S PLENTY OF TIME WE’LL STILL HAVE FOR DISCUSSION IS JUST TO REALLY EMPHASIZE THAT IN THE 30 YEAR ARC THAT I’VE NOW DESCRIBED FOR YOU OF GENOMICS, I’VE BEEN THERE FROM THE BEGINNING AND IT IS REMARKABLE HOW THE FIELD RELEVANCE HAS CHANGED, I HOPE YOU CAN APPRECIATE THIS, WHEN I GOT INVOLVED IN GENOMICS AT THE VERY BEGINNING, IT WAS ONLY RELEVANT TO RESEARCH, IT WAS GEEKS LIKE ME AT THE BENCH OR THE COMPUTER, IT WAS JUST GENOMIC SCIENTISTS, JUST RESEARCHERS. THAT WAS THROUGH THE GENOME PROJECT. WHEN TENDED, IT DID EXPAND ITS RELEVANCE BECAUSE WE GOT HEALTHCARE PROFESSIONALS INTERESTED IN THIS VISION, THIS JOURNEY TO GENOMIC MEDICINE AND THEY JOINED US IN THIS MARATHON. BUT IT WAS STILL JUST PROFESSIONALS THINKING ABOUT GENOMICS. BUT YOU KNOW WHAT? WHEN GENOMICS STARTS TO TOUCH CANCER PATIENT AND THEIR LIVES AND GENOMICS STARTS TO BECOME RELEVANT FOR THE DECISIONS ABOUT MEDICATIONS RK WHEN IT BECOMES RELEVANT TO PREGNANT WOMEN AND COUPLES DOING PRENAY PRENATAL
GENETIC TESTING, FAMILIES WITH RARE DISEASES, ALL OF A SUDDEN IT’S NOT JUST ABOUT PROFESSIONALS ANYMORE. GENOMICS IS ABOUT PATIENTS. ONCE IT’S ABOUT PATIENTS, WE’RE ALL PATIENTS, IT’S ABOUT SOCIETY. SO WHAT’S BEEN VERY INTERESTING IS WHEN I GOT INVOLVED IN THIS FIELD, IT WAS JUST A FIELD OF SCIENTISTS AND THEN A FIELD OF MEDICAL PROFESSIONALS AS WELL, WITH BU NO THIS IS A FIELD VERY MUCH INTEGRATED IN SOCIETIMENT OVER THE YEARS WE HAVE REALLY THOUGHT ABOUT THE DIFFERENT SOCIETAL CHALLENGES ASSOCIATED WITH GENOMICS. ISSUES AROUND PRIVACY, NOW AS GENOMICS STARTS TO TOUCHING MEDICINE, ISSUES ABOUT LITERACY, OUR UNDERSTANDING OF GENOMICS, WHAT OUR HEALTHCARE PROFESSIONALS UNDERSTAND, WHAT PATIENTS UNDERSTAND, ISSUES ABOUT REGULATING GENOMICS, ISSUES ABOUT WHO PAYS FOR THESE GENOMIC TESTS, SO THERE ARE HUGE SETS OF GENOMIC ISSUES THAT ALL OF A SUDDEN BECOME VERY RELEVANT. MY INSTITUTE ONCE UPON A TIME IS JUST WORRIED ABOUT THE SCIENCE. NOW WE’VE GOT TO THINK ABOUT A LOT OF THESE OTHER ISSUES AND IT IS AN IMPORTANT RESPONSIBILITY WE HAVE IN ADDITION TO SEEING THE REALIZATION OF GENOMIC MEDICINE. SO I WANT TO REALLY EMPHASIZE THAT BECAUSE OFTENTIMES STUDENTS WILL ASK A LOT OF QUESTIONS THAT ARE VERY RELEVANT AT A SOCIETAL LEVEL. I DON’T WANT TO LEAD YOU TO THE IMPRESSION THAT WE’RE IGNORING THESE THINGS, WE’RE VERY MUCH NOT ONLY EMBRACING UNDERSTANDING THESE THINGS, WE’RE ACTUALLY STUDYING THEM. WITH HEWE SEE HOW IMPORTANT
THESE ARE GOINGTO BE TO UNDERSTAND AS GENOMICS INCREASINGLY GETS INFUSED INTO EVERYDAY LIFE. BUT THE LAST TOPIC I WANTED TO COVER REALLY IS ABOUT THE FUTURE, AND IT’S REALLY THE LAST JOURNEY THAT I WANT TO TELL YOU ABOUT BECAUSE I DON’T WANT TO LEAVE YOU WITH THE IMPRESSION THAT I THINK ALL ASPECTS OF HUMAN DISEASE AND ALL ASPECTS OF MEDICINE ARE GENOMIC, BECAUSE IT’S NOT. THAT’S NOT AT ALL THE CASE. I FULLY PREERNT FULLY APPRECIATE
THAT. I WANT TO SHARE WITH YOU THIS EARLY PART OF THE JOURNEY OF PRECISION MEDICINE BECAUSE I THINK FOR THOSE OF YOU WHETHER YOU GO TO RESEARCH OR MEDICINE, YOU’RE GOING TO SEE THIS BECOME A REALITY BECAUSE IT IS IN A VERY EXCITING EVOLVING AREA. WHAT I WILL TELL YOU IS WHEN YOU LOOK, AND I SHOWED YOU THIS PIE CHART EARLIER, I GET VERY EXCITED ABOUT THE LEFT SIDE BECAUSE I’M RIDING A WAVE OF TECHNOLOGICAL ADVANCES THAT ALLOW YOU TO DISSECT THE LEFT HALF OF THIS PIE CHART. BUT I COMPLETELY UNDERSTAND AND APPRECIATE THAT THE RIGHT SIDE IS INCREDIBLY IMPORTANT FOR HUMAN HEALTH AND DISEASE. BUT WHAT’S BEEN LACKING IS TECHNOLOGIES FOR MONITORING LIFESTYLE AND SO FORTH, BUT THAT WON’T BE THE CASE FOREVER AND ONE COULD IMAGINE THE DAY WHERE THERE WILL BE BETTER TECHNOLOGIES THAT WILL FILL IN VERY NICELY THE RIGHT SIDE OF THE PIE CHART. THIS HAS LED TO THIS IDEA OF PRECISION MEDICINE. PRECISION MEDICINE BEING MORE PRECISE, IN INDIVIDUALIZING THE CARE OF PATIENTS. I THINK OF PRECISION MEDICINE AS JUST A MORE PRECISE ACCOUNTING OF INDIVIDUAL VARIABILITY. I SPENT OVER AN HOUR NOW TELLING YOU ABOUT GENOMICS. AND HOWP GENOMICS IS ONE AREA OF INDIVIDUAL VARIABILITY. BUT THERE’S SO MUCH MORE TO OUR LIVES, THERE’S UNIQUE ASPECTS OF OUR PHYSIOLOGY, WE’RE GOING TO TO GET BETTER AT MEASURING THAT, THERE’S ASPECTS OF OUR LIFESTYLE THAT INFLUENCE OUR HEALTH AND DISEASE, THERE’S ASPECT OF OUR ENVIRONMENT, THERE’S ASPECTS OF THINGS THAT SORT OF ARE HALFWAY BETWEEN LIFESTYLE AND ENVIRONMENT LIKE WHAT WE EAT, WHAT WE EXPOSE OUR BODIES TO AND SO FORTH. AND SO THE QUESTION IS, CAN WE START TO HARNESS INFORMATION ABOUT THE VARIABILITY IN ALL OF THESE DIFFERENT AREAS TO BASICALLY COME UP WITH MORE PRECISE WAYS TO PRACTICE MEDICINE. THIS HAS BECOME MAJOR RESEARCH AREA AT NIH AND ACTUALLY AROUND THE WORLD AND IT GETS BACK TO A FUNDAMENTAL QUESTION EARLIER WHEN I WAS INTRODUCING YOU TO GENOMIC NED SIN. IT’S REALLY THIS SAME ISSUE ON A BROADER SCALE. THE WAY WE PRACTICE MEDICINE TODAY IS BASED ON THE RESPONSE OF THE AVERAGE PATIENT. WE WILL LOOK BACK ON HOW WE PRACTICE MEDICINE IN 2018 AND THINK WE WERE COMPLETELY ANTIQUATED IN HOW WE WERE DOING IT BECAUSE WE WERE DOING IT BASED ON WHAT A TYPICAL PERSON DID, NOT WHAT AN INDIVIDUAL PATIENT DID. WE CAN DO BETTER. THERE WILL BE A TOMORROW WHERE MEDICAL CAREWILL BE BASED ON INDIVIDUAL GENOMIC LIFESTYLE DIFFERENCES. I THINK WE’RE STARTING TO DO THAT AND I THINK GENOMIC MEDICINE IS BECOMING A REALIT. BUT WHAT’S EXCITING IS TO THINK ABOUT HOW ARE WE GOING TO GET MORE EXREES HEN CIVIL TO WHERE WE ARE TODAY TO TOMORROW. I’VE EMPHASIZED IN MY TALK THE GENOMICS ASPECT OF THIS BUT THERE’S MORE TO BE DONE. WHAT YOU’RE GOING TO HEAR INCREASINGLY ABOUT IS USING INFORMATION AND BIG DATA INFORMATION COMING OUT IN ELECTRONIC HEALTH RECORDS. WHEN THE GENOME PROJECT STARTED, THERE WERE ALMOST NO FUNCTIONAL ELECTRONIC HEALTH RECORDS IN THE UNITED STATES BUT NOW MOST SITES IN THE UNITED STATES HAVE FUNCTIONING ELECTRONIC HEALTH RECORDS. MOST OF THE INFORMATION IN ANY OF YOUR ELECTRONIC HEALTH RECORDS SITS THERE AND DOESN’T GET ANALYZED FOR RESEARCH BUT THAT’S CHANGING. INCREASINGLY WE’RE RECOGNIZING IF WE CAN HARNESS THE INFORMATION IN OUR RECORDS, WITH HE CAN WE CAN DO A LOT THAT TEACHES US ABOUT VARIABILITY. CAN WE IMAGINE A DAY WHERE WE HAVE BETTER TECHNOLOGIES THAT WILL I A LOW US TO MORE ACCURATELY MONITOR OUR ENVIRONMENT, LIFESTYLE, PHYSIOLOGY? WELL, YEAH, WE CAN, BECAUSE YOU’RE ABOUT TO SEE THOSE TECHNOLOGIES COME ON THE XENO. AND I THINK ALL OF US RECOGNIZE AND THERE’S MANY ARTICLES THAT TALK ABOUT ALL THESE INCREDIBLE WEARABLE DEVICES AND MOBILE HEALTH CENTERS COMING ON XENOSTARTING TO BE DEPLOYED IN A CLINICAL SETTING, RECREATIONAL DEVICES LIKE FITBITS, THEY’RE FUN AND TEACH US SOMETHING ABOUT OUR PHYSIOLOGY, BUT THEY’RE NOT CLINICAL GRADE. REALLY GOOD CLINICAL GRADE THINGS ARE COMING, OUR ABILITY TO DO MUCH MORE ROBUST MONITORING OF OTHER ASPECTS OF OUR PHYSIOLOGY. COULD ONE IMAGINE HARNESSING THESE TECHNOLOGIES AND USING THESE IN A WAY THAT MEASURE IN REALTIME AND COLLECT LOTS OF DATA ABOUT PEOPLE, MAYBE OVER MANY YEARS, AND MAYBE ON A VERY LARGE SCALE. THIS HAS LED TO A NUMBER OF POPULATION-BASED STUDIES GOING ON AROUND THE WORLD. THE ONE GOING ON HERE IN THE UNITED STATES THAT WAS LAUNCHED EARLIER THIS YEAR WAS SOMETHING CALLED THE ALL OF US RESEARCH PROGRAM. THAT IS THE U.S.’ MAJOR FORAY INTO THE IDEA OF DEVELOPING A COLLECTION OF INDIVIDUALS, A COHORT OF INDIVIDUAL WHO ARE GOING TO BE STUDIED FOR MANY YEARS AND WE’RE GOING TO BASICALLY LEARN A LOT ABOUT PRECISION MEDICINE. THIS PROGRAM IS ABOUT RECRUITING ABOUT A MILLION OR MORE U.S. VOLUNTEERS WHO ARE GOING TO AGREE TO SHARE A LOT OF STUFF ABOUT THEMSELVES. GENOMIC DATA, LIFESTYLE INFORMATION, BIOLOGICAL SAMPLES AND ACCESS TO ELECTRONIC HEALTH RECORDS. THIS IS GOING TO BE AN INCREDIBLE DATA RESOURCE AND WHAT WE’RE HOPING IS THAT PEOPLE LIKE YOU WILL ACTUALLY ANALYZE THIS DATA BECAUSE WE’RE GOING TO PROVIDE OPEN RESPONSIBLE DATA SHARING, BUILDING IN LOTS OF PRIVACY PROTECTIONS, BUT LOTS OF PEOPLE WILL ANALYZE THIS DATA IN THE COMING 10, 20, 30 YEARS, AND WE HOPE WE CAN LEARN A LOT ABOUT ALL THE SMALL CONTRIBUTIONS TO HEALTH AND DISEASE IN THE PRACTICE OF MEDICINE IN A MUCH MORE POWERFUL WAY. AND SO MAKING PRECISION MEDICINE A REALITY IS REALLY BECOMING A VERY PRIORITY HERE IN THE U.S. THERE ARE SIMILAR PROGRAMS GOING ON IN MULTIPLE COUNTRIES AROUND THE WORLD, BUT I WOULD SAY THAT THERE’S A LOT OF ANALOGIES OR MANY ANALOGIES BETWEEN THE HUMAN GENOME PROJECT THAT I SAW 30 YEARS AGO COMING ON THE XENOOR 25 YEARS AGO AND THIS ALL OF US PROGRAM SPREADING ACROSS THE UNITED STATES THAT I SEE NOW, I’M VERY EXCITED BEING INVOLVED IN BOTH OF THESE, I ACTUALLY FEEL VERY FORTUNATE. ITS A SENSE OF DEJA VU BECAUSE I CANNOT TELL YOU THAT IF YOU GO BACK 25 YEARS, THE GENOME PROJECT WAS IN ABOUT ITS THIRD YEAR, VERY EXCITING, VERYUNCLEAR HOW WE WERE ACTUALLY GOING TO DO IT, BUT WE COULD SORT OF SEE THIS MADE A LOT OF SENSE TO BE DOING AND YOU COULD SEE A LOT OF BENEFITS COMING FROM THE DATA THAT WOULD BE GENERATED. THAT’S EXACTLY HOW I FEEL ABOUT THE ALL OF US RESEARCH PROGRAM. A LOT OF UNCERTAINTY, UNCLEAR OF MANY DETAILS, BUT WOW, DOES IT MAKE SENSE TO COLLECT THIS DATA AND HAVE AN INCREDIBLE COMMUNITY OF SCIENTISTS BEING ABLE TO ANALYZE THAT KIND OF SCALE OF DATA FOR TEASING OUT INDIVIDUAL VARIABILITY AND ITS ROLE IN HEALTH AND DISEASE AND THINKING ABOUT BETTER WAYS OF PRACTICING MEDICINE. BUT LET ME EMPHASIZE, A LOT OF UNCERTAINTIES. WE REALLY DON’T PRECISELY KNOW THE BEST WAY TO IMPLEMENT PRECISION MEDICINE, NO BETTER THAN WE KNOW THE BEST WAYS TO ACTUALLY SEQUENCE THE HUMAN GENOME THE VERY FIRST TIME WE DID IT DURING THE HUMAN GENOME PROJECT. SO LET ME JUST LEAVE YOU WITH A QUOTE FROM THIS GUY, BECAUSE I ACTUALLY BELIEVE IN THIS, IT’S SO MUCH OF I THINK WHAT WE DO ON THESE JOURNEYS, WHETHER IT BE JOURNEYS OF GENOMICS OR PRECISION MEDICINE, THERE’S A QUOTE FROM EINSTEIN, IT’S A SIGN THAT I HAVE ABOVE MY DOOR IN MY OFFICE, IT SAYS — WHERE EINSTEIN SAID IF WE KNEW WHAT WE WERE DOING, IT WOULDN’T BE CALLED RESEARCH. I HOPE UL ALL OF YOU DOING
RESEARCH THIS SUMMER DOING RESEARCH — THE EXCITING PART ABOUT RESEARCH IS THE UNCERTAINTY AND THE FACT THAT YOU’RE OUT THERE DOING SOMETHING FOR THE VERY FIRST TIME AND LEARNING SOMETHING THAT SOMEBODY ELSE HAS NEVER FIGURED OUT, AND THAT’S THE EXCITING ASPECTS OF THIS JOURNEY OF GENOMICS AND PRECISION MEDICINE. SO I WILL STOP THERE AND PUT IN ONE MORE PLUG BUT IF YOU’RE ALL EXCITED ABOUT WHAT YOU HEARD ABOUT, I PUT OUT A MONTHLY NEWSLETTER THAT MY STAFF AND I PUT TOGETHER TO GIVE UPDATES ABOUT GENOMICS. IF YOU WANT ONE EXTRA EMAIL A MONTH, YOU CAN DUB CAN SUBSCRIBE
TO IF YOU WANT. I WILL STAY HERE AS LONG AS ANY OF YOU WANT TO ANSWER ANY OF YOUR QUESTIONS. THANK YOU VERY MUCH. [APPLAUSE] THIS IS BEING WEBCAST SO BEFORE ALL OF YOU TRIP OVER EACH OTHER, SLOWLY COME TO THE MICROPHONE TO ASK QUESTIONS AND DON’T BE SHY BECAUSE I’M TOLD THE SUMMER STUDENTS ARE INCREDIBLY EXTROVERTED. IF NOT I’LL ASK YOU QUESTIONS. THAT’S THE FLIP SIDE OF IT. GO FOR IT.>>ALL RIGHT. SO YOU TALKED ABOUT THE IMPORTANCE OF DATA SCIENCE IN ANALYZING GENOMES AND UNDERSTANDING WHAT’S TO COME, AND THEN YOU ALSO TALKED ABOUT LIFESTYLE CHOICES AND LOOKING AT DIFFERENT OMICS LIKE GENOMICS AND PROTEOMIX AND EVEN PHONO MICS? PHYSICIAN YOL. SO IN YOUR VIEW, HOW WOULD YOU SEE CRITICAL ASPECTS OF INCORPORATING DIFFERENT TYPES OF OMICS IN UNDERSTANDING BASIC PHYSIOLOGY THAT RELATE TO HEALTH?>>SO PROBABLY A LOT OF DIFFERENT WAYS I COULD ANSWER THIS. I MEAN, I WOULDN’T JUST LIMIT IT TO OMICS, I WOULD PROBABLY CAST IT AS THERE’S GOING TO BE ALL DIFFERENT KINDS OF DATA THAT ARE — THAT WILL BE GENERATED OR ARE AVAILABLE. I WOULD THROW IN THERE ELECTRONIC HEALTH RECORD DATA, WHICH ISN’T EVEN RESEARCH DATA BUT IT’S INCREDIBLY VALUABLE FOR RESEARCH. GENOMIC DATA, AS BETTER TECHNOLOGIES COME FOR MEASURING PROTEINS, IT WILL BE PROTEOMICS, GLYCOMICS, AS FITBITS BECOME EMBEDDED DEVICES, WHRE HAVE EKGs OF PEOPLE, THERE WILL JUST BE IMMENSE AMOUNTS OF DATA. I COULD JUST SORT OF STOP AT ANY ONE OF THESE THINGS, JUST THINK ABOUT HOW MUCH BETTER IT IS TO OH HAVE MORE DATA THAN A SINGLE CLINICAL MEASUREMENT OF YOUR BLOOD PRESSURE WHEN YOU GO SEE YOUR PHYSICIAN. YOU THINK ABOUT ALL THAT DATA AND ALL THESE THINGS, IT BECOMES A DATA SCIENCE CHALLENGE. I THINK IT’S THE REASON WHY, THE NEXT SPEAKER IS PATTY BRENNAN, I’M SURE SHE’LL BE TALKING ABOUT DATA SCIENCE BECAUSE IT’S A BIG PART OF WHAT HER INSTITUTE IS RESPONSIBLE FOR. UNDERLYING ALL OF THIS, I THINK YOUR GENERATION WILL ABSOLUTELY DO SCIENTIFIC INQUIRY IN A VERY DIFFERENT WAY THAN MY GENERATION DID. I THINK I’VE SEEN SOME OF THIS TRANSITION EVEN WHEN I HAD MY LAB, I SAW THE TRANSITION WHERE ALL OF A SUDDEN EVERYBODY EARLY ON WAS WORKING AT THE BENCH, PIPETTING, THAT WAS LIKE THE 1990s, THEN BY THE BEGINNING OF 2000, THEY WERE ALL AT THE COMPUTER AND EVEN THE WAY WE WANTED TO DESIGN LABS HERE AT NIH HAS CHANGED. AND I THINK THEY’RE GOING TO BE SIGNIFICANT NUMBERS OF BRILLIANT SCIENTISTS IN YOUR GENERATION THAT WILL NEVER TOUCH A PIPETTE, THAT I THINK WILL REALLY ANALYZING ALL OF THESE DATA BECAUSE GENERATING THE DATA IS GOING TO TURN OUT TO BE VERY EASY AND WE’RE WORKING HARD TO MAKE SURE AWFUL THIS DATA IS SHAREABLE, THAT EVERYBODY CAN ACCESS IT. SO SOME OF THESE INCREDIBLY EXCITING OPPORTUNITIES, IT’S JUST A VERY DIFFERENT WAY OF DOING RESEARCH. IT WON’T BE FOR EVERYBODY, BUT I JUST THINK THE CENTER OF GRAVITY WILL BE MORE ON DATA ANALYSIS THAN DATA GENERATION. I HOPE THAT HELPS. OVER HERE.>>PRECISION MEDICINE IS OBVIOUSLY VERY PROMISING BUT WHAT IS THE ROLE OF PRECISION MEDICINE IN REDUCING OR ELIMINATING HEALTH DISPARITIES AND HOW ARE WE GOING TO TRAIN THE NEXT GENERATION OF PHYSICIAN SCIENTISTS TO USE THAT EXPLOSION OF DATA TO DO JUST THAT?>>THAT’S GREAT QUESTION. YOU ASKED THE QUESTION ABOUT HOW DO WE DEAL WITH PRECISION MEDICINE, I WOULD ACTUALLY JUST BROADEN IT AND SAY HOW DO WE DEAL WITH ANY OF THESE ADVANCES, HOW DO WE — IT’S REALLY NICE, GO BACK TO MY GENOMICS IN SOCIETY SLIDE, BECAUSE UNDER THAT SLIDE IS JUST DOZENS OF TOPICS. HOW DO WE SEE THESE GREAT EXCITING ADVANCES BENEFIT ALL. AND WOULDN’T IT BE A TRAGEDY IF IT’S ONLY TO BENEFIT THE WEALTHY, ONLY TO BENEFIT CERTAIN INDIVIDUALS FROM CERTAIN GROUPS. WE THINK ABOUT THIS A LOT, AND IT’S REALLY NO DIFFERENT THAN OTHER ASPECTS OF MEDICINE. WHAT I HAVE FOUND VERY INTERESTING, EVEN THOUGH I WENT TO MEDICAL SCHOOL, I HADN’T FULLY APPRECIATED THAT THE SECOND YOU START TOUCHING THE MEDICAL ECOSYSTEM, YOU JUST COMPLETELY DON’T REALIZE HOW COMPLICATED THINGS ARE. BECAUSE AS A MEDICAL STUDENT OR EVEN AS A RESIDENT, YOU SORT OF KNOW THAT IMMEDIATE ENVIRONMENT BUT OH, MY GOSH, IT GETS SO COMPLICATED, MEDICINE IS DELIVERED IN SO MANY DIFFERENT SETTINGS AND SO MANY DIFFERENT SOCIAL AND CULTURAL CONTEXTS, AND THERE’S SO — IT’S SO EASY TO HAVE IT COCKY CUTTER WORKING IN ONE PLAY, NOT EVEN REALIZING IT’S A COMPLETELY INEFFECTIVE WAY TO WORK IN ANOTHER PLACE. SO I DON’T HAVE A SIMPLE ANSWER BECAUSE AS YOU KNOW, HEALTH DISPARITIES IS NOT NEW TO GENOMICS, IT’S PERVASIVE. WHAT I WOULD SAY IS THE FACT I THINK WE’RE TALKING ABOUT THIS A LOT AND WE’RE STUDYING THIS A LOT AND I WILL TELL YOU A LOT OF PEOPLE IN MY INSTITUTE ARE QUITE INVOLVED THINKING ABOUT WHAT ARE THE THING WE COULD BE DOING TO GET AHEAD OF THE PROBLEM, BECAUSE WE WILL ALL BE VERY DISAPPOINTED IF GENOMICS EXACERBATES HEALTH DISPARITIES. ONE OF THE THINGS I WILL TELL YOU, IT’S A DETAIL BUT WORTH STRESSING, THE ALL OF US RESEARCH PROGRAM, AS WE GO TO COLLECT THESE MILLION OR MORE AMERICANS, THERE IS UNBELIEVABLE ATTEMPTS TO RECRUIT TO THAT PROGRAM GROUPS THAT HAVE TRADITIONALLY NOT PARTICIPATED IN BIOMEDICAL RESEARCH. SO YOU’RE GOING TO SEE THE DIVERSITY OF THAT COHORT WILL BE UNLIKE ANYTHING NIH HAS EVER DONE BEFORE, TO HELP THINK ABOUT THE KIND OF ISSUES THAT YOU JUST RAISED. GREAT QUESTION.>>THANKS FOR THE TALK. MY QUESTION IS ALSO ABOUT THE ALL-OF-US INITIATIVE. YOU TALKED ABOUT TALKING MAKING
THE DATA AVAILABLE TO EVERYONE AND SOME OF THE ISSUES THAT YOU FACE IN TRYING TO DO THAT. PRIVACY, HIPAA, ALL OF THAT. I WAS WONDERING IF YOU COULD JUST TALK MORE ABOUT YOUR VISION IN TERMS OF HOW — WHAT KIND OF — WHAT THE ACCESS TO THAT DATA WILL LOOK LIKE, WHAT FORM THAT DATA WILL TAKE AND KIND OF THE FUTURE OF THAT DATA ANALYSIS BASICALLY.>>WE HAVE A LOT OF PRECEDENT TO UNDERSTAND WHAT ACCESS MIGHT LOOK LIKE BECAUSE ALL THE GENOMIC DATA WE’RE GENERATING NOW AND ALL THE DATA IN MANY PROJECTS, WE’RE INVOLVED IN, NOT MY INSTITUTE, MANY INSTITUTES, THERE ARE WAYS OF DOING THIS WHERE YOU HAVE TO BE SORT OF A CREDENTIALED INVESTIGATOR, YOU HAVE TO HAVE YOUR RESEARCH INSTITUTIONS SUPPORT HOW YOU’RE GOING TO DEAL WITH THE DATA AND WHAT YOU’RE GOING TO DO WITH IT AND NOT DO WITH IT. SO WE’RE TRYING TO THINK A LITTLE BROADER THAN THAT. ONE OF THE VISIONS THAT I KNOW, I CAN JUST SPEAK ON BEHALF OF THE NIH DIRECTOR BECAUSE HE TALKS ABOUT THIS IN PUBLIC, IS THAT WE KNOW HOW TO TO THAT BUT WE ALSO WANT TO MAKE SURE WE CAN THINK ABOUT THAT INCREDIBLY SMART HIGH SCHOOL, CITIZEN SCIENTIST, WHO HAS SOME IDEA OF WHAT THEY WANT TO ANALYZE, THEY REALLY WON’T HAVE A RESEARCH INSTITUTION BEHIND THEM, WE WANT TO THINK ABOUT WHAT’S THE WAY TO SORT OF GET THEM ACCESS TO THIS BUT IN A FASHION WE CAN MAKE SURE WE DON’T VIOLATE ANYBODY’S PRIVACY. SO THERE’S A LOT OF VERY SMART PEOPLE WORKING ON THIS, TRYING TO THINK REALLY CREATIVELY. WE ALSO THINK ABOUT — THINK ABOUT COLLEGE CLASSES AND THINK ABOUT COMPUTER SCIENCE CLASSES. HARNESSING THE ENERGY OF STUDENTS IN COLLEGES AND VARIOUS DISCIPLINES, ACCESS TO THAT DATA. THERE PROBABLY WILL BE DISCOVERIES THAT WILL BE MADE BY PROJECTS COMING OUT OF SOME OF THESE SCHOOLS SO WE NEED TO THINK ABOUT WHAT’S THE WAY TO GET THEM ACCESS BUT MAKING SURE WE HAVE ENOUGH PROTECTIONS THAT PEOPLE’S PRIVACY ISN’T VIOLATED. SO IT’S A BIG CHALLENGE BUT IT’S BEING LOOKED AT ALREADY, IT’S BEING EXTENSIVELY LOOKED AT BEFORE THE FIRST DATA STARTS ROLLING IN. YES.>>ONE THING THAT YOU DIDN’T TOUCH UPON EXACTLY IS WHY EXACTLY IS IT IMPORTANT TO BE ABLE TO INTERPRET THE ENTIRE HUMAN GENOME? LIKE I UNDERSTAND WHY IT’S IMPORTANT FOR PRECISION MEDICINE OR TO BE ABLE TO IDENTIFY ONE GENETIC DISORDER, BUT WHAT’S THE BEN BENEFIT IN UNDERSTANDING THE ENTIRE THING? OBVIOUSLY THERE’S AN INTELLECTUAL BENEFIT BUT I’M JUST WONDERING WHAT YOU HAD IN MIND.>>SO THAT’S A GREAT QUESTION. HERE’S WHAT I WOULD SAY IS, WE DON’T KNOW, WE DON’T KNOW. ONE OF THE THINGS THAT I WILL TELL YOU IS THAT THERE ARE SOME VERY STRONG CLUES TO SUGGEST THAT A LOT OF THE — THE GENOMIC VARIANTS THAT PLAY A ROLE IN COMMON DISEASES WERE R. NOT IN PROTEIN CODING SEQUENCES. I’M NOT GOING TO GO THROUGH THE DETAIL BUT — WRAIR DISEASES, MOST OF THE TIME IT SEEMENTS SEEMS LIKE IT BREAKS THE GENE BY BREAKING THE CODING SEQUENCE. IT SEEMS LIKE FOR A LOT OF COMMON DISEASES, WE DON’T THINK IT’S NECESSARILY THE PROTEIN CODING PORTION OF THE JEAN GEEB
THAT IS MUTATED BUT RATHER THE NON-CODING SEQUENCES THAT REGULATE THE GENE. ONE COULD IMAGINE IT MAY NOT BE OVERTLY BREAKING A GENE SO YOU HAVE NONE OF THAT GENE PRODUCT THAT CAUSES DISEASE BUT MAYBE THEY DON’T MAKE ENOUGH OF IT OR THEY MAKE TOO MUCH OF IT OR THEY MAKE IT AT THE WRONG TIME AT THE WRONG PLACE AND THAT GIVES A SUBTLE LITTLE TWEAK TO YOUR SYSTEM THAT GIVES YOU A LITTLE MORE RISK TO BEING HYPERTENSIVE OR DIABETIC. SO BECAUSE OF THAT, IT’S BEEN GREATLY MOTIVATED TO FIGURE OUT WHAT ABOUT THE NON-GENE PARTS OF THE GENOME, BECAUSE THAT MAY ACTUALLY BE INCREDIBLY IMPORTANT FOR UNDERSTANDING HUMAN DISEASE. SO THAT’S A GOOD REASON IN AND OF ITSELF.>>THANK YOU FOR THE TALK, IT WAS VERY HIGH OPENING. SO MY QUESTION IS, YOU HAD THAT SLIDE WITH ALL OF THE BASE PAIRS AND THE DIFFERENT COLORS HIGHLIGHTING WITH THE PURPLE. HOW DO YOU ACCOUNT FOR THE EPIGENETIC FACTORS AND COMPILE THAT ALL INTO ONE SORT OF CONCLUSION OF TREATMENT OR DIAGNOSTIC? WHAT’S YOUR VISION FOR THAT IN THE FUTURE?>>SO ONE OF THE THINGS, IF YOU WANT TO TAKE A LOOK, I WOULD SEND YOU — DO A GOOGLE SEARCH AND GET BACK TO A COMPUTER TO UC SANTA CRUZ GENOME BROWSER, UNIVERSITY OF CALIFORNIA SANTA CRUZ GENOME BROWSER. WE FUND THEM. EVEN RIGHT WHEN THE PROJECT ENDED, THEY CREATED A VISUALIZATION FRAMEWORK FOR VISUALIZING THE HUMAN GENOME, JUST ONE OF THESE CLASSIC BROWSERS, YOU COULD ZOOM IN AND OUT AND GET ALL THE WAY DOWN TO BASE PAIR. THEY’VE SET UP TRACKS THAT ARE HORIZONTAL, SEQUENCE GOES ON TOP AND THEN TRACKS, AND YOU CAN ASK ANY QUESTION YOU WANT. YOU CAN SORT OF SAY, OKAY BEING HERE I’M SITTING IN THE MIDDLE OF THE — SOME GENE, PICK A GENE, WHATEVER QUEEN GENE YOU WANT, YOU CAN ZOOM IN, YOU SEE RIGHT WHERE THE EXON IS, WHERE THE INTRONS ARE, YOU CAN SEE WHERE ALTERNATE SUPPLIES FORMS, WHAT ARE THE THINGS THAT ARE CONSERVED THROUGH DIFFERENT ANIMALS, WHERE SMALL RNA IS MADE, IT JUST LAYERS ON DATA AFTER DATA. SO I GUESS THAT’S MY VISION, IT’S A VISION. YOU RAISE THE A QUESTION BUT THEN THAT’S ACTUALLY TOO COMPLICATED FOR A BUSY HEALTHCARE PROFESSIONAL SO THEY DON’T REALLY CARE WHAT’S CONSERVED IN CHICKENS THERK JUST WANT TO DO IT IN MY PATIENT. SO THERE’S A WHOLE OTHER WAY OF VISUALIZING THIS, THAT’S THE THING WE’RE WORKING ON. BUT AT THE END OF THE DAY, A SIMPLE VISION IS THAT MOST OF OUR VARIANTS ARE NOT RELEVANT FOR HEALTH. SO WE REALLY WANT TO GET THIS DOWN TO THIS SUBSET OF VARIANTS THAT ARE RELEVANT. EVENTUALLY YOU WANT TO HAVE SOMETHING THAT’S LIKE IF YOU ENCOUNTER A PATIENT AN THEY’RE HYPERTENSIVE AND THEY HAVE A VARIANT HERE, DON’T GIVE THEM THIS MEDICINE, GIVE THEM THAT MEDICINE. IT’S LIKE A LEARNING SYSTEM THAT WOULD POP UP AND TELL YOU. MAYBE THAT WILL ALL GET INTEGRATED WITH YOUR ELECTRONIC HEALTH RECORDS. THAT’S SORT OF ONE VISION.>>I WAS WONDERING HOW YOU COULD TALK A LITTLE ABOUT HOW YOU SAW THE HUMAN GENOME PROJECT AND GENOMICS, KIND OF THE LESSONS LEARNED FROM THAT WHOLE PROCESS IN FORMING THE BIG DATA INITIATIVES WITH EHR AND THINGS THAT ARE KIND OF MORE VARIABLE IN HOW THEY’RE DEFINED AND COLLECTED.>>SO IF I UNDERSTAND YOUR QUESTION, YOU TELL ME IF I DIDN’T QUITE ANSWER IT, I THINK YOU’RE GETTING AT A VERY INTERESTING POINT, IS THAT THE GENOME PROJECT IN SOME WAYS WAS EASY BECAUSE WE KNEW WHEN WE WERE DONE. IT HAD A VERY FINITE GOAL. WHEN YOU’RE DONE ORDERING 3 BILLION LETTERS, YOU POP THE CORK ON THE CHAMPAGNE AND SAY YOU’RE DONE. WE SORT OF DONE THAT IN 2003. WE DIDN’T HAVE ALL THE LETTERS,
BUT YOU INTO KNEW WHEN YOU WERE
DONE. IF I UNDERSTAND YOUR QUESTION, THERE’S SORT OF AN ISSUE AROUND PREET SITION MEDICINE INITIATIVE, IT REALLY IS MUCH MORE OF WE’RE GOING TO CREATE THIS PLAYGROUND AND PEOPLE ARE GOING TO LEARN A LOT BY ANALYZING THAT TATA. I THINK THAT’S SOMETHING WE WILL FACE IN THE COMING YEARS, YOU KNOW, HOW DO YOU KNOW WHEN TO STOP IT, HOW DO YOU KNOW WHEN TO — WHAT DOES IT LOOK LIKE, AND IT’S TOO EARLY. AGAIN, IF WE KNEW WHAT WE WERE DOING, WE WOULDN’T CALL IT RESEARCH. BUT I THINK YOU’RE MAKING A FAIR POINT THAT THE GENOME PROJECT WAS UNIQUE IN THAT IT HAD A REASONABLY DISCRETE FINISH LINE. SOME OF THESE OTHER THINGS I’M TALKING ABOUT AREN’T QUITE AS DISCRETE. ALTHOUGH THERE ARE ODOMETER MOMENTS. I MEAN, THE GOAL IS ENROLL A MILLION PEOPLE. I KNOW THEY HAD A PARTY WHEN THEY ENROLLED THE FIRST ONE, THEY PROBABLY WILL HAVE A PARTY WHEN THEY ENROLL THE HUNDRED THOUSANDTH, I’M SURE THEY’LL HAVE A PARTY AT THE MILL THE THE
MILLIONTH
. IS THAT WHAT YOU’RE GITTING AT?>>AND JUST HOW EHR DATA IS SO VARIABLE.>>I ALWAYS WANT TO TEMPER MY INCREDIBLE ENTHUSIASM WITH PREELISM. I DON’T KNOW IF PEOPLE KNOW MUCH ABOUT EHR, ELECTRONIC HEALTH RECORDS, VENDORS FIGHT WITH EACH OTHER, THEY’RE NOT INTRAOPERABLE, THEY’RE REALLY CLUNKY. I DON’T KNOW ANYTHING ABOUT THIS, WHEN I WAS A STUDENT, IT WAS ALL PAPER CHART, BUT THEY ARE A MESS, AND A LOT OF THE DATA AND EVERYTHING IS SO GREAT. BY THE WAY, IT’S ONE OF THE REASONS WHY WHEN YOU LOOK AT ANY OF THESE STUDIES THAT INVOLVE ELECTRONIC HEALTH RECORD, YOU ALWAYS WANT TO HAVE BIG NUMBERS LIKE A MILLION OR HUNDREDS OF THOUSANDS, BECAUSE YOU’VE GOT TO BE ABLE TO BASICALLY ELIMINATE CRAPPY DATA, YOU’VE GOT TO GET BY BY STARTING OUT BIG AND SIFTING OUT AND THROWING AWAY.>>THANK YOU FOR THE LECTURE. YOUR ENTHUSIASM IS REALLY INFECTIOUS. SO MY QUESTION IS KIND OF REGARDING THE ETHICS OF GENOMICS IN THE FUTURE. SO I’M SURE A NUMBER OF PEOPLE HERE HAVE SEEN THE MOVIE GATTICA. HOW CAN WE ENSURE THAT IN THE FUTURE, THE GENOME ISN’T USED AS A STATUS SYMBOL OR –>>HOW MANY OF YOU SAW THE MOVIE? I HAVE A FUNNY STORY TO TELL YOU ABOUT GA ATTICA. SO WHEN GATTICA CAME OUT, IT’S BEEN A WHILE, WHEN IT CAME OUT, BEFORE IT CAME OUT, SCIENCE MAGAZINE WAS GOING TO DO A STORY ABOUT GATTICA, LIKE A MOVIE REVIEW. THEY CALLED ME UP AND SAID, WILL YOU GO TO A SNEAK PREVIEW OF THE MOVIE AND WE WANT TO INTERVIEW YOU AFTERWARDS, BUT WE HAVE TO GO TONIGHT, IT WAS DOWNTOWN BETHESDA, THEY HAD SOME THEATER THEY HAD RENTED OUT JUST FOR THE SNEAK PREVIEW, AND I LOOKED AT THE CALENDAR AND REALIZED IT WAS MY WEDDING ANNIVERSARY AND I SAID, WELL, I’M NOT SURE I CAN GO BECAUSE IT’S MY WEDDING ANNIVERSARY AND THE REPORTER SAID OH, YOU CAN BRING YOUR WIFE. I SAID WELL, WE’VE BEEN MARRIED LONG ENOUGH, MAYBE SHE’D THINK THIS WOULD BE FUN. I CALLED HER AND SAID WOULD YOU LIKE TO SEE THIS AND SHE SAID WE’VE BEEN MARRIED LONG ENOUGH, THAT SOUNDS LIKE FUN. SO MY WIFE WAS ON THE RIGHT, THIS REPORTER WAS ON MY LEFT. WE GOT MAYBE A HALF-HOUR INTO THE MOVIE WHICH IS LIKE ONE OF THE DARKEST MOVIES YOU COULD EVER POSSIBLY IMAGINE AND I TURNED TO THE SCIENCE REPORTER, I SAID, ARE YOU REALLY GOING TO WRITE AN ARTICLE ABOUT THIS IN SCIENCE? HE SAID NO, I DECIDED ABOUT TWO XENOS AGO, THERE’S NO WAY SCIENCE IS GOING TO WANT TO WRITE AN ARTICLE. SO THE ARTICLE NEVER APPEARED IN SCIENCE BUT I GOT TO SEE THE MOVIE FOR FREE. TRUE STORY. SO WHAT DO I THINK OF IT? ON THE ONE HAND WHETHER IT CAME OUT, IT WAS JUST RIDICULOUS THAT THEY COULD SEQUENCE A GENOME THAT QUICK. THEN I SHOWED YOU THE EXAMPLE OF THE KID IN THE NEONATAL INTENSIVE CARE UNIT. THE MOVIE IS DRAMATIC AND RAISES LOTS OF ISSUES BUT, IT DOES RAISE A LOT OF THINGS TO THINK ABOUT WITH RESPECT TO IS GENETICS EVERYTHING, DETERMINISM, DARE WE FIND OURSELVES IN A SITUATION WHERE WE LET GENOMIC INFORMATION SOMEHOW INFLUENCE HOW — WHAT OPPORTUNITIES CHILDREN HAVE, ET CETERA, ET CETERA. SO THE ONE THING ABOUT IT I WOULD SAY IS THAT IT’S NOT SURPRISING THAT THAT WOULD GET POPULAR ATTENTION, IT’S ONE OF THE REASONS WHY LITERALLY WHEN THE GENOME PROJECT STARTED, OUR INSTITUTE BEGAN OUR ETHICAL LEGAL SOCIAL IMPLICATIONS RESEARCH PROJECT, OTHERWISE KNOWN AS THE ELSI PROGRAM, WE STILL DEDICATE 5% OF ALL OF OUR RESEARCH DOLLARS TO STUDYING THE LEGAL ETHICAL SITUATIONS, LOTS OF ISSUES AROUND PRIVACY, LOTS OF ISSUES AROUND THE USE OF GENOMIC INFORMATION OF. THE CHALLENGES ARE ALWAYS REMAINING. GATTICA I DIDN’T THINK WAS GREAT MOVIE BUT THE ISSUES ARE WORTH DISCUSSING. YOU WANT TO GET A LITTLE NERVOUS TO EMPHASIZE YOUR QUESTION, DO GOOGLE SEARCHES ON GENOMIC OR GENETIC TESTING. ACTUALLY I’VE MEANT TO MAKE SOME SLIDES FOR THIS, THERE ARE ABC LEET COMPANIES THAT WILL TEST YOUR CHILDREN FOR WHAT SPORT THEY SHOULD DO, THAT JUST CAME OUT ABOUT A YEAR AGO. THERE ABSOLUTELY ARE COMPANIES THAT CLAIM THEY DO GENOMIC TESTING TO TELL YOU WHAT COSMETIC YOU SHOULD USE, WHAT PERSON YOU SHOULD MARRY, WHAT FOOD YOU SHOULD EAT. IT JUST KEEPS GOING AND GOING. I DON’T THINK THERE’S MUCH SCIENTIFIC BASIS FOR MOST OF THOSE THINGS AND SO THERE’S A LOT OF ISSUES AROUND MAKING SURE PEOPLE UNDERSTAND WHAT THEY SHOULD AND SHOULD NOT BELIEVE, AND I WOULD — THE THING THAT WORRIES ME IS THAT THEY HEAR ENOUGH ABOUT INAPPROPRIATE USE OF GENOMIC INFORMATION IN THESE RECREATIONAL THINGS THAT ARE TOTAL B.S., I WORRY THEY’LL LOSE FAITH IN IT WHEN THEY BECOME A CANCER PATIENT OR HAVE OTHER APPLICATIONS, PHARMACOGENOMICS, VERY IMPORTANT CLINICALLY. THAT’S THE CONCERN. OBVIOUSLY I DON’T WANT PEOPLE TO BE HARMED BECAUSE THEY BELIEVE SOME OF THIS STUFF. SO GATTICA OPENED OUR EYES TO THIS. THERE’S BEEN MANY COMPANIES LIKE 23 AND ME, THAT ALLOW PEOPLE TO ACCESS GENOMIC INFORMATION ON THEIR OWN.>>HI. SO IN THE SLIDES, YOU’VE TALKED ABOUT HOW GENOMIC MEDICINE CAN TAKE A REALLY IMPORTANT ROLE IN TREATING COMMON ILLNESSES OR ILLNESSES WITH MULTIPLE GENETIC FACTORS, BUT ALSO YOU’VE TALKED ABOUT HOW THE RIGHT SIDE OF THAT PIE CHART IS ALSO REALLY IMPORTANT. SO I’M WONDERING WHERE THAT LINE IS DRAWN. SPECIFICALLY WHAT DO YOU SEE AS THE FINAL POTENTIAL OF GENOMIC MEDICINE IN A VACUUM, AND HOW MIGHT GENOMIC MEDICINE OF THE FUTURE TREAT SOMETHING LIKE THE COMMON COLD?>>SO ACTUALLY I MATE HAVE MIGHT
HAVE MISLED YOU IF YOUR INTERPRETATION FROM WHAT I SAID THAT WITH COMMON DISEASES, THAT GENOMIC INFORMATION WOULD ACTUALLY NECESSARILY CHANGE HOW WE PRACTICE MEDICINE. I ACTUALLY THINK THAT WHAT WE WILL LEARN OVER THE NEXT 10 YEARS ABOUT THE GENOMIC VARIANTS RELATED TO COMOP DISEASES WILL
COMMON DISE
ASES WILL BE VERY VALUABLE FOR HELPING US UNDERSTAND THE UNDERLYING BASIS OF DISEASE, MIGHT HELP US WITH NEW TREATMENTS, I’M NOT OH SURE HOW MUCH IT WILL BE HELPFUL, SO FOR EXAMPLE, IF I FOUND OUT SOMEBODY HAD THREE OR FOUR VARIANTS THAT MAY MAKE THEM SLIGHTLY MORE PREDISPOSED TO HYPERTENSION, WE ALSO KNOW THAT THERE’S A BUNCH OF OTHER VARIANTS, WE ALSO KNOWS NOA — I’M NOT SURE THAT WOULD NECESSARILY CHANGE WHAT THEY’RE DOING. I THINK THERE’S SOME BIG QUESTIONS. ACTUALLY I DIDN’T MENTION 23 AND ME, BUT I ALLUDED TO IT ON THE LAST QUESTION. THAT’S ONE OF THE BIG QUESTIONS AROUND 23 AND ME LIKE INFORMATION, IS IT GIVES YOU INSIGHTS ABOUT SOME OF THESE COMMON DISEASES BUT THERE’S SO MUCH MORE TO THE STORY. SO I THINK SOME PEOPLE ARE NOT SO CERTAIN THAT GENOMIC INFORMATION WILL HELP MAKE PREDICTIONS ABOUT COMMON DISEASES. OARNT,ON THE OTHER HAND, WHERE I
THINK IT MIGHT BE HELPFUL, IF YOU HAVE A PATIENT AND THEY’RE HYPERTENSIVE, YOU MIGHT WANT TO KNOW AMONG A SET OF KNOWN VARIANTS THAT PLAY A ROLE IN HYPERTENSION, YOU MIGHT WANT TO KNOW WHICH ONES ARE THEY, AND THAT RM MAY RELATE MAY RELATE TO
THE BEST MEDICATION TO GIVE THEM BECAUSE YOU MIGHT KNOW THAT OUT OF FIVE PATHWAYS, THIS PATIENT HAS PATHWAYS 1 AND 3 — SO IT’S A LITTLE NOT SO MUCH ABOUT PREDICTING AND MAYBE STRATIFYING IN MAKING THE BEST CHOICE FOR MEDICATION.>>FIRST OF ALL THANK YOU.>>ONE MORE AND THEN I’LL STICK AROUND AND PEOPLE STILL HAVE QUESTIONS COME TO SEE ME IN PERSON.>>FIRST OF ALL THANK YOU SO MUCH FOR THE PRESENTATION. BUT I NO HE THAT YOU’RE SUPER, SUPER OPTIMISTIC ABOUT ALL THESE DISCOVERIES AND ADVANCES IN TECHNOLOGY, BUT I’M TRAINING IN BIOETHICS SO THE ETHICAL PART IS A CONCERN TO ME. BUT I WANT TO ASK YOU, I MEAN, DO YOU FEEL LIKE THE BIOETHICS OF THIS IS HOLDING BACK, LIKE, THE DISCOVERY OR ADVANCEMENT OF TECHNOLOGY, AND ON A SIMILAR NOTE, HOW DO YOU SEE POLICY FOLLOWING THESE ADVANCES?>>WHAT I WOULD SAY IS, IF IT’S HOLDING IT BACK, SO FAR I’M NOT SURE I HAVE ANY SERIOUS CONCERNS ABOUT THAT. HERE’S WHAT WE DO, I THINK TO DIRECTLY ANSWER YOUR QUESTION, I DIDN’T MENTION THIS EARLIER. A LOT OF OUR BIG GENOMIC MEDICINE RESEARCH PROGRAMS THAT WE HAVE, WE IN MOST CASES ARE CARVEING OUT BIOETHICS RESEARCH PROJECTS THAT ARE DIRECTLY ASSOCIATED WITH THEM. SO THIS GG ON AT NIH AND OTHER PLACES AS WELL, INSTEAD OF SAYING HERE IS SORT OF THESE BIOMEDICAL RESEARCH PROJECTS AND OVER HERE ARE BIOETHICS PROJECTS, WE’RE DOING MUCH MORE INTEGRATIVE STUFF. AND I THINK THERE’S SOME REALLY GOOD EXAMPLES OF WHAT WE’VE DONE IN THAT AREA THAT SORT OF HAS HELPED BIOETHICS QUESTIONS INKRED BLIBL RELEVANT TO ADVANCES TAKING PLACE. IF NOTHING ELSE, THE DATA COMING OUT OF THAT HELPS INFORM POLICY DECISIONS AND A LOT OF POLICY DECISIONS THAT HAVE TO BE MADE ARE GOING TO NEED RESEARCH DATA BEHIND THEM BECAUSE WE CAN’T MAKE THEM IN A VACUUM. I WOULD ALSO SAY THAT THERE’S NOTHING EXCEPTIONAL ABOUT GENOMICS, THAT IF YOU GO OVER THE HISTORY OF BIOMEDICINE, ANY TIME THERE’S ADVANCES, THERE’S LOTS OF ETHICAL ISSUES ASSOCIATED WITH IT. GENOMICS RAISES A BUNCH OF ONES THAT ARE SOMEWHAT CONCERNING TO SOME PEOPLE, YOU JUST SORT OF DEAL WITH THEM ONE AT A TIME AND HOPEFULLY YOU TRY TO DEAL WITH FACTS AND RESEARCH DATA TO INFORM THOSE DISCUSSIONS. AND AT THE END OF THE DAY, A LOT OF THIS BECOMES VERY PERSONAL. PEOPLE WHO DECIDE WHAT THEY’RE COMFORTABLE WITH, WHAT THEY’RE NOT, AND IT DOESN’T HAVE TO BE SWEEPING THAT EVERYBODY HAS TO FOLLOW THE SAME ROUTINE. WELL, THANK YOU FOR YOUR ATTENTION. ANYBODY HAS QUESTIONS, I’LL STICK AROUND, HAPPY TO ANSWER THEM IN PERSON. [APPLAUSE]

5 Comments

  • Reply David Schnell July 20, 2018 at 6:47 pm

    I don't comprehend the distinction between clinical and laboratory. Labs > examination rooms I hope. I just know i can afford basic kit on the monthly because my kids settled out of cuort.

  • Reply Terrilyn Forwood August 16, 2018 at 4:21 am

    AWESOME!Here is a cute gift for my nurse practitioner
    https://yesecart.com/products/funny-nurse-mug

  • Reply Sanapala Srikanth February 7, 2019 at 12:36 pm

    Global Precision Medicine Market- Share, Outlook, Trends, Size and Forecasts (2018 โ€“ 2024)

    Precision Medicine Market is accounted for USD XX billion in 2017 and expected to grow at a CAGR of X% to reach USD XX billion by 2024.

    Keyplayers:-

    @nanostringtech

    @Roche

    @pfizer

    @Medtronic

    Download a Sample Report at:- https://www.envisioninteligence.com/industry-report/global-precision-medicine-market/?utm_source=yt-srikanth

  • Reply Hema Gayatri March 15, 2019 at 10:02 am

    Global Precision Medicine Market is accounted for USD XX billion in 2017 and expected to grow at a CAGR of X% to reach USD XX billion by 2024.
    Request a sample @ https://www.envisioninteligence.com/industry-report/global-precision-medicine-market/?utm_source=yt-hema

  • Reply Tyler Dettloff September 12, 2019 at 3:39 am

    Interesting, but a shame that he included autism on the list of "diseases"… youd think a scientist would know better

  • Leave a Reply