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  • (applause)

  • >> WELL, HELLO TO EVERYBODY AND THANK YOU VERY MUCH

  • FOR GIVING ME THE OPPORTUNITY AND DR. CONNOR TO COME IN

  • AND SPEAK HERE AT GRAND RAPIDS COMMUNITY COLLEGE.

  • I'M HAPPY TO BE WITH YOU TODAY.

  • UM, I HAVE ONE RULE FOR MY PRESENTATIONS WHEN I GIVE THEM

  • AND THAT IS THAT WE KEEP THINGS INFORMAL.

  • SO, IF THROUGHOUT THE COURSE OF THIS PARTICULAR DISCUSSION,

  • YOU FEEL COMPELLED TO RAISE YOUR HAND

  • AND ASK A QUESTION OR INTERJECT OR WHATEVER,

  • I INSIST THAT YOU DO IT.

  • LET'S KEEP THIS AS DISCUSSIONAL AS POSSIBLE.

  • WE'VE GOT AN HOUR AND A HALF TOGETHER, AND, UH...

  • I HAVE ABOUT A MILLION SLIDES TO GO THROUGH.

  • SO, DEPENDING ON HOW MY NERVOUSNESS IS, THEY'LL BE DONE IN SIX MINUTES

  • OR, YOU KNOW, A COUPLE HOURS.

  • SO, WE'LL SEE HOW THIS GOES.

  • UH, SO, YEAH, IT IS QUITE A LONG TITLE TO MY PRESENTATION TODAY,

  • AND IT'S, "WILL YOU BE ABLE TO PREORDER THE SEX, HEIGHT, HAIR COLOR,

  • "PERSONALITY OF YOUR NEW BABY?

  • "AND IF YOU CAN, SHOULD YOU?"

  • SO... UH-OH.

  • THERE WE GO.

  • SO, I'VE KINDA CONDENSED THAT TITLE TO BE "GENOMICS & YOU."

  • SO, BEFORE WE GO REALLY FARTHER TODAY...

  • I HAVE TO GIVE THIS DISCLAIMER, AND THIS IS ACTUALLY IMPORTANT

  • AND THERE'S A REASON THAT I'M DOING IT.

  • SO, I WANT YOU ALL TO UNDERSTAND THAT I'M HERE TODAY

  • AND I'M NOT REPRESENTING MY COMPANY.

  • I'M REPRESENTING MYSELF AND MY EXPERIENCES,

  • AND ANYTHING THAT I SAY OR IMPLY COMES COMPLETELY FROM ME

  • AND NOT FROM ANYTHING THAT MY COMPANY DOES OR BELIEVES IN...

  • OR WHAT HAVE YOU.

  • SO, THIS IS ALL ME, NONE THEM.

  • AND THE REASON THAT I'M MAKING THIS DISCLAIMER

  • IS BECAUSE WE'RE GONNA HEAD INTO SOME MURKY WATERS...

  • AND A LOT OF PEOPLE FIND THE THINGS THAT I'M GONNA TALK ABOUT CONTROVERSIAL.

  • AND I WANT TO BE FREE TO TALK ABOUT THIS STUFF WITH YOU

  • AS AN INDIVIDUAL PERSON IN SOCIETY,

  • RATHER THAN A REPRESENTATIVE OF A COMPANY,

  • WHO MAY HAVE A DIFFERENT AGENDA AND SHAREHOLDERS TO ACCOUNT FOR.

  • SO, THIS IS ABOUT US TODAY.

  • UM, JUST TO EXTEND A LITTLE BIT ON THE INTRODUCTION,

  • SO THAT YOU CAN DECIDE FOR YOURSELF WHETHER OR NOT

  • YOU'D LIKE TO BELIEVE ANYTHING I HAVE TO SAY.

  • SO, I DID GET SOME TRAINING, EARLY ON, AT HILLSDALE COLLEGE.

  • I STUDIED BIOLOGY AND CHEMISTRY.

  • I WENT TO OHIO UNIVERSITY AND I GOT A PhD IN MOLECULAR BIOLOGY,

  • AND I STUDIED ONE PART OF MOLECULAR BIOLOGY

  • CALLED "POST-TRANSCRIPTIONAL PROCESSING,"

  • WHICH JUST BASICALLY HAS TO DO WITH THE ACTIVITY OF THE GENOME.

  • I WAS OF RESEARCH FELLOW AT THE DEFENSE DEPARTMENT

  • IN THE DIVISION OF EXPERIMENTAL THERAPEUTICS,

  • WHERE WE TRIED TO DEVELOP DRUGS TO FRONT-LOAD SOLDIERS WITH--

  • BEFORE THEY WENT INTO BATTLE,

  • SO THAT IF THEY WOULD WALK INTO A FIELD OF SARIN GAS,

  • THAT WE COULD GIVE THEM AN APPROPRIATE DRUG BEFOREHAND

  • AND THEY'D BE IMPERVIOUS TO THE DRUG.

  • ALL VERY SCI-FI MILITARY-TYPE STUFF...

  • BUT I ALSO WORKED AT THE NATIONAL CANCER INSTITUTE

  • DOING A BUNCH OF WORK AS A SCIENTIST, WITH CANCER.

  • BUT IT WAS ABOUT THAT TIME, IN MY EARLY 30s,

  • THAT I LEFT ACADEMIC RESEARCH

  • AND WENT OVER TO THE DARK SIDE OF BUSINESS,

  • AND I WORKED FOR A BIOTECH COMPANY CALLED AFFYMETRIX

  • AS AN APPLICATION SCIENTIST.

  • AND THEN, I HAD FIGURED IT WOULD BE A GOOD IDEA

  • TO START MY OWN COMPANY.

  • SO, YOU KNOW, THOSE SOMETIMES WORK OUT, SOMETIMES THEY DON'T,

  • AND WE DID OKAY WITH THAT,

  • BUT MY COMPANY, CALLED "TENEO SCIENCES"--

  • WE WORKED IN ARTIFICIAL INTELLIGENCE.

  • AND WHAT WE DID WITH THAT COMPANY

  • IS TRIED TO DEVELOP ARTIFICIAL INTELLIGENCES

  • THAT WOULD COMB THROUGH LARGE SETS OF GENETIC DATA

  • AND TRY TO MAKE SENSE OF IT.

  • AND YOU MAY UNDERSTAND WHY THAT'S IMPORTANT LATER,

  • BY THE END OF THIS TALK.

  • I'VE ALSO BEEN A CONSULTANT AND INVENTOR FOR SHADY GROVE CENTER

  • FOR PRE-IMPLANTATION GENETICS.

  • THIS IS A LARGE, EAST COAST IN VITRO FERTILIZATION CLINIC,

  • AND WE DEVELOPED TECHNOLOGIES TO INTERROGATE EMBRYOS

  • BEFORE THEY WERE IMPLANTED IN THE RECIPIENT FEMALE.

  • UM, I WAS A VICE PRESIDENT AT deCODE GENETICS,

  • WHICH IS AN ICELANDIC COMPANY, AND WHILE I WAS THERE,

  • WE WERE THE WORLD'S LARGEST GENETICS ANALYSIS COMPANY.

  • THEY'RE STILL QUITE LARGE.

  • AND THEY'VE BEEN SUPPLANTED BY COMPLETE GENOMICS,

  • WHERE I WORK RIGHT NOW,

  • WHERE WE DO WHOLE HUMAN GENOME SEQUENCING AND THAT'S IT.

  • THAT'S ALL WE DO.

  • THERE WE GO.

  • SO, I HAVE ONE MAJOR OBJECTIVE HERE.

  • (clearing throat)

  • IF I COULD BE ONE THING TODAY WITH ALL OF YOU,

  • I'D LIKE TO BRING WHOLE HUMAN GENOME SEQUENCING AND GENETICS

  • AND GENOMICS TO THE FOREFRONT OF YOUR MIND

  • AND GET YOU TO THINK ABOUT IT AND ITS IMPLICATIONS IN SOCIETY

  • AND IN YOUR LIFE AND PERHAPS EVEN IN YOUR CAREERS,

  • IF YOU ARE MOVING IN THE DIRECTION OF HAVING A CAREER.

  • AND TO DO THAT,

  • I'M GOING TO GIVE A VERY HIGH-LEVEL LOOK AT GENOMICS AND GENETICS.

  • I'M NOT GOING TO GET INTO THE WEEDS OF HOW ALL THAT STUFF'S PUT TOGETHER

  • OR ANALYSIS IS DONE.

  • AND I WANNA MAKE THIS AS REAL AS POSSIBLE FOR ALL OF YOU.

  • AND SO, TO DO THAT, I'M GONNA GIVE YOU REAL EXAMPLES FROM REAL PEOPLE,

  • AND SOME OF THESE EXAMPLES WILL TEND FROM THE MUNDANE--

  • THE STUFF IN THE BEGINNING OF THE TALK--

  • TO RATHER EXOTIC STUFF TOWARDS THE END OF THE TALK.

  • OKAY, SO, IN THE PROCESS, I WANT TO BE VERY CLEAR WITH YOU

  • ON THE DIFFERENCE BETWEEN FACT AND OPINION.

  • SO, I-- WHEN YOU WALK OUT HERE,

  • I WANT YOU TO BE ABLE TO SAY, "THESE ARE FACTS--

  • "THESE THINGS WE KNOW TO BE TRUE,

  • "AND THESE OTHER THINGS

  • "THAT GUY IN THE FRONT OF THE ROOM SAID WERE HIS OPINIONS,"

  • 'CAUSE THEY ARE JUST THAT.

  • BUT MY OPINIONS HAVE BEEN FORMED ON THIS SUBJECT,

  • TRAVELING AROUND THE WORLD OVER THE LAST TEN YEARS,

  • TALKING TO WORLD LEADERS IN GENETICS AND GENOMICS,

  • AND MY OWN PERSONAL OPINIONS.

  • OKAY.

  • SO, TO START OFF-- THE CENTRAL DOGMA OF D.N.A.

  • ACTUALLY, BEFORE I GO ANY FURTHER,

  • I'D LIKE TO FIND OUT A LITTLE BIT ABOUT YOU.

  • HOW MANY STUDENTS IN HERE ARE IN PSYCHOLOGY MAJOR?

  • DON'T BE SHY.

  • HOW ABOUT SOCIOLOGY?

  • OKAY, HOW ABOUT BIOLOGY?

  • AND THAT WAS ONLY ABOUT, LIKE, HALF THE ROOM.

  • WHAT ARE THE REST OF YOU DOING?

  • NURSING?

  • OR WHAT ARE THE OTHER KINDS OF--

  • JUST GO AHEAD AND SHOUT OUT WHAT SOMEBODY ELSE IS DOING IN HERE.

  • >> PRE-MED. >> PRE-MED, GOOD.

  • >> CRIMINAL JUSTICE. >> CRIMINAL JUSTICE, EXCELLENT.

  • VERY GOOD.

  • ARCHITECTURE?

  • FANTASTIC.

  • YOU'RE GOING TO LIKE THE FIRST SLIDES.

  • OKAY, ALL RIGHT.

  • THAT'S GREAT.

  • AND I SEE THAT THERE'S SOME FACULTY IN HERE AS WELL.

  • IS THAT ALL FACULTY FROM GRCC?

  • YEAH?

  • OKAY.

  • OKAY...

  • SO, HERE IS THE VERY, VERY TRADITIONAL...

  • EXPLANATION OF D.N.A.

  • D.N.A. IS THE PLAN, RIGHT?

  • THIS IS HOW, FOR AGES, PEOPLE HAVE TALKED ABOUT IT.

  • IT'S THE ANALOGY THAT WE USE.

  • SO, IN OTHER WORDS, YOU KNOW, WHAT WE HAVE RIGHT HERE IS ON...

  • THE LEFT SIDE OF THE SCREEN, FOR ALL OF YOU--

  • IS SORT OF A BLUEPRINT RENDERING OF FRANK LLOYD WRIGHT'S "FALLING WATER."

  • THAT'S THE BLUEPRINT FOR HIS BEAUTIFUL HOME

  • IN PENNSYLVANIA, "FALLING WATER."

  • AND SO, THE ANALOGY WOULD GO

  • THAT THE D.N.A. ITSELF IS A SIMILAR PLAN,

  • AND THAT THAT PLAN CREATES AN ORGANISM-- IN THIS CASE, THE HUMAN.

  • SO, I THINK THAT-- I THINK THAT THAT IS...

  • AN OLD FASHIONED WAY TO THINK ABOUT D.N.A.

  • AND NOT REALLY TOTALLY CORRECT.

  • SO, MORE THAN JUST THE PLAN, D.N.A.-- YOUR GENOME--

  • IS A INSTRUCTION MANUAL.

  • IT DOES MORE THAN JUST LAY OUT WHAT THE STRUCTURE OF THINGS SHOULD BE.

  • IT IS THE SET OF DIRECTIVES THAT ARE REQUIRED

  • TO CREATE, GROW, MATURE,

  • OBSOLETE, AND KILL AN ORGANISM.

  • ALL THIS IS CONTAINED WITHIN IT.

  • AND WE PASS THIS INFORMATION FROM GENERATION TO GENERATION

  • THROUGH HERITABILITY.

  • SO, I THINK IT AS THE INSTRUCTION MANUAL, FULL OF DIRECTIVES.

  • (clearing throat)

  • SO, MANY OF YOU HAVE HAD THIS IN YOUR INTRODUCTORY BIOLOGY CLASSES,

  • PROBABLY FROM HIGH SCHOOL ONWARDS, BUT IT'S WORTH REVIEWING RIGHT NOW.

  • ESSENTIALLY, WHAT IS THE GENOME?

  • WHAT IS THE LOCATION AND ORGANIZATION OF THE GENETIC MATERIAL?

  • SO, EVERY SINGLE CELL IN YOUR BODY HAS-- EXCEPT FOR THE BLOOD CELLS--

  • HAS A NUCLEUS,

  • WHICH IS A SUB-CELLULAR ORGANELLE THAT HAS CHROMATIN--

  • CHROMOSOMES-- THAT MAKE UP THE GENOME.

  • THOSE CHROMOSOMES ARE COMPOSED OF D.N.A.

  • NOW, D.N.A. ITSELF IS A POLYMER

  • THAT HAS FOUR DIFFERENT BASES IN IT-- A, C, T, AND G--

  • AND THESE THINGS ARE STRUNG TOGETHER IN A CERTAIN SEQUENCE.

  • SO, THIS SEQUENCE OF A, C, Ts, AND Gs IS WHAT IS THE DIRECTIVE.

  • THAT'S THE BOOK, ESSENTIALLY,

  • THAT DECIDES HOW THINGS ARE GOING TO GO

  • FOR THE DEVELOPMENT AND USE OF AN ORGANISM.

  • SO, MY JOB-- MY COMPANY, AND WHAT MOST COMPANIES

  • ARE INTERESTED IN RIGHT NOW, IS TO DETERMINE, "WHAT IS THE SEQUENCE?

  • "WHAT IS THE ACTUAL ORDER OF THESE As, Cs, Ts, AND Gs,

  • "AND WHAT DOES THAT MEAN FOR DISEASE,

  • "HEALTHCARE, AGING, AND MANY OTHER THINGS?"

  • OKAY, I LOVE THIS PICTURE.

  • THIS IS A FALSE COLOR SCANNING ELECTRON MICROGRAPH

  • OF THE HUMAN CHROMOSOME NUMBER TWO.

  • I THINK IT'S ABSOLUTELY BEAUTIFUL, THAT WE GET TO SEE THESE THINGS.

  • SO, WHAT YOU'RE LOOKING AT HERE IS A SET OF MOLECULES, ESSENTIALLY.

  • IT'S THAT FINE OF RESOLUTION.

  • EVERY CELL IN YOUR BODY, ESSENTIALLY, HAS A FULL COMPLEMENT OF CHROMOSOMES...

  • JUST LIKE THIS.

  • AND SO, IN THE UPPER LEFT THERE

  • IS WHAT WE CALL A KARYOTYPE SPREAD,

  • AND THIS IS THE CHROMOSOMES THAT HAVE BEEN CONDENSED

  • AND ISOLATED FROM A CELL AND LAID OUT FOR MICROGRAPHY.

  • AND ESSENTIALLY, THERE ARE 23 CHROMOSOMES.

  • THERE'S 22 SETS OF CHROMOSOMES THAT ARE CALLED "AUTOSOMES."

  • MALES AND FEMALES HAVE AUTOSOMES-- 22 SETS OF THEM.

  • THEN, THERE'S SEX CHROMOSOMES-- "X" AND "Y"--

  • FEMALES HAVE TWO "X," MALES HAVE ONE "X" AND ONE "Y."

  • SO, COMPRISING THIS WHOLE GENETIC COMPLIMENT,

  • THE GENOME IS 6 BILLION NUCLEOTIDE PAIRS.

  • SO, WHEN I WAS GOING TO SCHOOL,

  • EVERYBODY SAID THAT THERE WERE 3 BILLION NUCLEOTIDE PAIRS, ALL RIGHT?

  • IS THAT THE NUMBER THAT MOST OF YOU HAVE HEARD?

  • THE TRUTH IS, THERE'S TWICE THAT MANY,

  • BECAUSE YOU HAVE PAIRS OF CHROMOSOMES.

  • YOU CAN SEE THAT EACH ONE OF THESE IS A CHROMOSOME PAIR,

  • WITH THE EXCEPTION OF THE SEX CHROMOSOMES RIGHT THERE.

  • SO, IT'S TWICE THAT MANY-- THERE'S 3 BILLION-- OR 6 BILLION PAIRS.

  • AND THERE'S ABOUT 23,000 GENES

  • THAT MAKE AROUND 400,000 DIFFERENT PROTEINS.

  • SO, IN ADDITION TO D.N.A. BEING THE DIRECTIVES--

  • SET OF DIRECTIVES, THE INSTRUCTION MANUAL--

  • I'D LIKE YOU TO THINK ABOUT D.N.A. AND THE GENOME

  • AS THE ULTIMATE INFORMATION REPOSITORY.

  • THIS SEQUENCE THAT'S PUT TOGETHER IN THE GENOME

  • IS ABLE TO ENCAPSULATE EVERYTHING THAT'S REQUIRED,

  • EVERYTHING THAT YOU ARE THINKING RIGHT NOW,

  • ALL OF YOUR MEMORIES, WITHOUT THE D.N.A. TO CONSTRUCT THAT BRAIN,

  • TO CONSTRUCT THE COMPUTERS--

  • THIS IS THE ULTIMATE INFORMATION REPOSITORY.

  • OKAY.

  • TRANSLATIONAL AND GENOMIC MEDICINE.

  • IS THERE ANYBODY IN HERE

  • WHO KNOWS THE DEFINITION OF "TRANSLATIONAL MEDICINE"?

  • ANYBODY BRAVE ENOUGH TO ADMIT IT?

  • OKAY, ALL RIGHT.

  • SO, THIS IS A BIG DEAL.

  • THIS IS, UM-- THIS IS SOMETHING THAT'S GOING TO AFFECT ALL YOUR LIVES.

  • IT'S GOING TO AFFECT MY LIFE...

  • BUT PARTICULARLY BECAUSE MOST OF YOU IN HERE ARE YOUNGER.

  • THIS IS SOMETHING THAT YOU'RE GONNA SEE MANIFEST THROUGHOUT,

  • YOU KNOW, THE NEXT FIVE TO FIFTY YEARS.

  • WE'RE-- BIG, BIG CHANGES IN MEDICINE ARE UNDERWAY,

  • AND THEY ARE THE CHANGES OF TRANSLATIONAL MEDICINE.

  • SO, ESSENTIALLY, TRANSLATIONAL MEDICINE IS AN INTEGRATED APPROACH

  • TO RESEARCH, DIAGNOSIS, AND TREATMENT OF MEDICAL AFFECTATIONS,

  • WHERE WE'RE LEVERAGING THE TOOLS OF SCIENCE, OKAY?

  • SO, WE'RE TRANSLATING THE TOOLS OF SCIENCE

  • DIRECTLY INTO CLINICAL PRACTICE.

  • MEDICINE ITSELF IS BECOMING MUCH MORE SCIENCE THAN IT USED TO BE

  • AND MUCH LESS ART.

  • SO, EVEN IN THE AREAS OF PSYCHOLOGY, PSYCHIATRY,

  • WHERE YOU'RE MAYBE NOT THINKING OF IT IN TERMS OF, LIKE,

  • "I'M GONNA CUT SOMEBODY OPEN WITH A SCALPEL,"

  • OR "CURE THEIR CANCER" OR WHATEVER--

  • TRANSLATIONAL MEDICINE WILL APPLY GENETIC AND GENOMIC TECHNOLOGIES IN ABUNDANCE.

  • SO, THIS IS COMMONLY REFERRED TO...

  • AS "BENCH TO BEDSIDE."

  • THAT'S HOW WE THINK OF IT--

  • FROM THE RESEARCH BENCH TO THE BEDSIDE OF THE PATIENT.

  • OKAY.

  • SO, I'M TAKING SOME TIME TO EXPLAIN THIS,

  • BECAUSE IT IS QUITE RELEVANT TO WHAT WILL BE HAPPENING IN THE FUTURE.

  • UM, SO, IF YOU WERE TO LOOK AT A SPECTRUM,

  • SAY BETWEEN RESEARCH ON ONE SIDE--

  • BEING A VERY, VERY SCIENTIFIC ENDEAVOR,

  • SOMETHING THAT HAPPENS PURELY IN THE LABORATORY,

  • YOU PUBLISH PAPERS IN ACADEMIC JOURNALS, THAT SORT OF THING--

  • TO CLINICAL PRACTICE ON THE EXACT OPPOSITE EXTREME OF THIS SPECTRUM.

  • THIS IS SOMETHING WHERE IT'S NOT QUITE AS SCIENTIFIC.

  • IT'S VERY WELL ESTABLISHED,

  • IT'S A CONSERVATIVE APPROACH TO DOING WHAT THEY'RE DOING,

  • IT'S INTERACTING DIRECTLY WITH PATIENTS.

  • UM, TRANSLATIONAL MEDICINE FALLS KIND OF IN THE MIDDLE.

  • OOP, THERE WE GO.

  • SORRY.

  • SO, TRANSLATIONAL MEDICINE, YOU KNOW, FIVE, TEN, SEVEN YEARS AGO,

  • WAS REALLY PRACTICED BY PEOPLE WHO ARE M.D. PhDs,

  • AND WHAT WE'VE SEEN OVER THE INTERVENING YEARS

  • IS THAT IT'S GAINED GREATER AND GREATER ADOPTION,

  • BUT NOT BY THE SCIENTISTS-- IT'S BY THE MEDICAL COMMUNITY,

  • WHO HAVE SEEN THESE SCIENTIFIC TOOLS

  • AND SAID, "WE NEED TO IMPLEMENT THESE THINGS IN OUR PRACTICE.

  • "WE NEED TO USE THESE TOOLS TO HELP US CARE FOR OUR PATIENT BASE."

  • SO, A COUPLE YEARS AGO, WE REALLY STARTED TO SEE,

  • YOU KNOW, TRANSLATIONAL MEDICINE COME TO THE FOREFRONT,

  • AND IN ANOTHER FEW YEARS, BY 2015,

  • THE TRANSLATIONAL MEDICINE TOOLS OUT THERE,

  • PARTICULARLY IN GENETICS AND GENOMICS,

  • WILL HAVE REALLY COME MUCH FARTHER INTO CLINICAL PRACTICE.

  • I THINK THAT PEOPLE THAT ARE PRACTICING PSYCHIATRY,

  • IN PARTICULAR, WHO ARE PRESCRIBING DRUGS,

  • WILL BE USING THE TOOLS OF TRANSLATIONAL MEDICINE.

  • SO, MORE TO THE POINT FOR US TODAY,

  • TRANSLATIONAL MEDICINE IS THIS--

  • IF YOU WERE TO THINK OF ALL THE TOOLS OF TRANSLATIONAL MEDICINE

  • THAT WOULD BE AVAILABLE--

  • THE TOOLS OF BIOLOGIST'S, WHICH IS, YOU KNOW, PROTEIN CHEMISTRY

  • AND GENETICS AND R.N.A. ANALYSIS-- ALL THAT SORT OF STUFF--

  • TRANSLATIONAL MEDICINE.

  • I'M GONNA FOCUS ON GENOMIC MEDICINE.

  • NOW, GENOMIC MEDICINE IS A TRANSLATIONAL MEDICINE.

  • IT'S A SUBSET OF TRANSLATIONAL MEDICINE,

  • AND THIS IS EXTRAORDINARILY POWERFUL.

  • AND IT'S NOT ONLY IMPORTANT IN TERMS OF IMPROVEMENT IN CLINICAL CARE.

  • IT'S ALSO IMPORTANT IN TERMS OF OUR UNDERLYING ECONOMY.

  • THERE'S A HUGE INVESTMENT THAT'S BEING MADE--

  • I MEAN, YOU'VE SEEN THE BUILDING THAT'S HAPPENED AROUND HERE,

  • IN GRAND RAPIDS, FOR RESEARCH.

  • YOU KNOW, THE VAN ANDEL INSTITUTE OVER THERE.

  • THAT'S HAPPENING ALL AROUND THE WORLD, AND IT'S LARGELY GENOMIC MEDICINE.

  • WHY?

  • WHY ARE THEY DOING THAT?

  • WHY IS EVERYBODY INVESTING IN GENOMIC MEDICINE?

  • WELL, IT'S BECAUSE OF THIS-- MOST PEOPLE, AT THIS POINT IN TIME,

  • BELIEVE THAT THE ROOT OF ALL DISEASE CAN BE TRACED BACK TO THE GENOME.

  • SO IT DOESN'T REALLY MATTER WHAT YOUR DISEASE IS--

  • PEOPLE OFTEN SAY TO ME, "WELL, RICK, WHAT ABOUT INFECTIOUS DISEASE?

  • "HOW DO TRACE THAT BACK TO THE GENOME?"

  • I MEAN, SOME THINGS ARE EASY TO EXPLAIN AWAY,

  • LIKE DEVELOPMENTAL DELAY, ALZHEIMER'S DISEASE--

  • THESE VERY CLEARLY HAVE GENETIC COMPONENTS-- CANCER.

  • SURE, THEY GET THAT, BUT WHAT ABOUT INFECTIOUS DISEASE?

  • WELL, THERE'S A THING CALLED A "HOST RESPONSE."

  • SO, YOUR ABILITY TO BE INFECTED OR NOT INFECTED IS, IN FACT,

  • DETERMINED BY YOUR GENOME AS WELL.

  • TRUE.

  • SO, I WILL STAND BY THIS STATEMENT-- AND IT'S PRETTY WELL ACCEPTED,

  • AND ANYBODY WHO'D LIKE TO GO TOE-TO-TOE WITH ME ON THIS, I'M READY.

  • (audience chuckling) NO TAKERS?

  • OKAY.

  • THIS IS...

  • THIS IS MENDEL'S EXPERIMENT RIGHT HERE.

  • GREGOR MENDEL WAS THIS OLD MONK-- KINDA THE FATHER OF GENETICS.

  • RAISE YOUR HAND YOU KNOW ABOUT GREGOR MENDEL-- HAVE SEEN IT.

  • OKAY.

  • SO, THIS IS LIKE THIS VERY TRADITIONAL, CLASSIC WAY TO THINK ABOUT GENETICS,

  • AND IN THIS EXPERIMENT--

  • MENDEL WAS A MONK, AND HE WATCHED HIS GARDEN GROW

  • AND HE WATCHED THESE PEA PLANTS

  • AND HE TRIED TO EXPLAIN AWAY THE VARIATION IN FLOWER COLOR,

  • AS THESE THINGS GREW EVERY SPRING, AND HE WOULD CROSS THE PLANTS.

  • AND HE FOUND...

  • THAT IF HE CROSSED A PLANT WITH A RED FLOWER ON IT

  • AND A PLANT WITH A WHITE FLOWER ON IT,

  • THAT THE RESULT WAS A PLANT WITH A PINK FLOWER,

  • KINDA HALFWAY BETWEEN RED AND WHITE.

  • AND HE FURTHER FOUND THAT IF HE TOOK THE PINK FLOWERS

  • AND HE TOOK TWO PINK FLOWERS AND HE CROSSED THEM TOGETHER,

  • THAT HE WOULD GET FLOWERS THAT RESULTED THAT WERE RED AND PINK AND WHITE,

  • AND MORE SPECIFICALLY, THAT THEY WERE IN A SPECIFIC RATIO--

  • 25 PERCENT OF THE FLOWERS WERE RED, 50 PERCENT OF FLOWERS WERE PINK,

  • AND 25 PERCENT OF THE FLOWERS WERE WHITE.

  • AND SO, THIS IS THE KIND OF THING THAT WE ALL HAVE LEARNED IN GENETICS.

  • THIS IS, YOU KNOW, AS WE WENT TO SCHOOL, THIS IS HOW WE LEARNED GENETICS,

  • AND IT PROPAGATES THIS THOUGHT

  • THAT I SEE ALL THE TIME, WHICH IS...

  • "HEY, MY DAD HAD HEART DISEASE.

  • "THAT MEANS I'M GOING TO HAVE HEART DISEASE."

  • OR, "MY UNCLE WAS CRAZY.

  • "AM I GOING TO BE CRAZY?"

  • AND YOU KNOW, WHEN I SIT ON THE AIRPLANE,

  • WHICH IS WHAT I DO 90 PERCENT OF THE TIME,

  • AND I TELL PEOPLE WHAT I DO,

  • THEY ASK ME A LOT OF QUESTIONS ABOUT THIS SORT OF THING--

  • "AM I GOING TO GET SICK BECAUSE MY RELATIVE GOT SICK?"

  • WELL, THE TRUTH IS THAT GENETICS DOESN'T REALLY WORK THAT WAY VERY OFTEN.

  • THIS IS MENDELIAN GENETICS-- STRICTLY MENDELIAN GENETICS--

  • AND IT'S WHAT WE CALL "SIMPLE GENETICS."

  • AND THERE'S NOT VERY MANY HUMAN DISEASES...

  • THAT FALL INTO MENDELIAN GENETICS.

  • THEY'RE ACTUALLY ALL CATEGORIZED AT O.M.I.M.,

  • WHICH IS "ONLINE MENDELIAN INHERITANCE IN MAN."

  • THIS IS A WEBSITE FROM THE NATIONAL INSTITUTES OF HEALTH

  • AND JOHNS HOPKINS,

  • WHERE IT ACTUALLY TAKES ALL THE KINDS OF DISEASES

  • THAT FIT THAT CRITERIA OF, YOU KNOW, DOMINANT-RECESSIVE,

  • "MY DAD HAD IT, I'M GONNA HAVE IT," SORT OF PARADIGM,

  • AND LISTS THEM FOR YOU.

  • AND THERE'S NOT THAT MANY-- THERE'S ONLY LIKE 1,500.

  • SO, OUT OF ALL THE DIFFERENT KINDS OF HUMAN AFFLICTION THAT YOU CAN THINK OF,

  • ONLY A SMALL FRACTION OF THEM-- AND LARGELY NONE OF THEM--

  • ARE COMMON DISEASES.

  • YOU KNOW, YOU WON'T FIND SOMETHING LIKE HEART DISEASE IN THERE.

  • YOU WON'T FIND ANY OF THAT SORT OF STUFF.

  • IT'S OBSCURE THINGS.

  • SO, THERE IS THIS RELATIONSHIP THAT EXISTS

  • BETWEEN YOUR GENES AND DISEASE,

  • AND THE NUMBER OF GENETIC VARIANTS--

  • YOU'RE GONNA HEAR ME USE THIS WORD "GENETIC VARIANTS" ALL THE TIME TODAY.

  • AND IT GOES LIKE THIS...

  • BASICALLY, IT SAYS THAT THE FEWER NUMBER OF VARIANTS

  • THAT ARE RESPONSIBLE FOR PRODUCING A DISEASE,

  • THE STRONGER INFLUENCE OF THAT VARIANT ON THE DISEASE, OKAY?

  • SO, IN OTHER WORDS, AN EXAMPLE OF THAT WOULD BE

  • SOMETHING LIKE SICKLE CELL ANEMIA,

  • OR IF YOU HAVE A SINGLE-- SINGLE!-- NUCLEOTIDE VARIATION,

  • YOU'VE GOT SICKLE CELL ANEMIA.

  • VERY STRONG.

  • ON THE OTHER HAND, MORE COMPLEX STUFF--

  • STUFF THAT YOU ALL MIGHT BE DEALING WITH-- DISEASES OF THE MIND.

  • THEY HAVE MANY, MANY, MANY GENETIC VARIANTS THAT WORK TOGETHER

  • TO PRODUCE THIS PHENOTYPE, THIS PRODUCT THAT YOU SEE--

  • IF SOMEBODY'S SCHIZOPHRENIC OR WHAT HAVE YOU.

  • IT'S NOT ONE THING THAT PRODUCES IT, IT'S QUITE A NUMBER.

  • COMPLEX DISEASES.

  • OKAY, ANY QUESTIONS ON THAT?

  • THAT'S KIND OF AN IMPORTANT TOPIC,

  • SO MORE GENETIC VARIATION FOR COMPLEX DISEASES,

  • LESS GENETIC VARIATION FOR SIMPLE DISEASES.

  • OKAY, SO...

  • HERE'S THE DEAL-- WE'VE KNOW THIS FOR A LONG TIME,

  • THIS WHOLE PARADIGM ABOUT THE NUMBER OF VARIANTS REQUIRED

  • TO PRODUCE A GIVEN DISEASE.

  • WE'VE DONE THIS FOR A LONG, LONG TIME, AND BACK IN 1980s--

  • I'M SURE BEFORE ANY OF YOU WERE BORN--

  • THE GOVERNMENT MADE A DECISION, AND THEY SAID,

  • "WHAT WE'RE GONNA DO IS WE'RE GOING TO SEQUENCE THE HUMAN GENOME,"

  • AND THAT WAS THE BIRTH OF THE HUMAN GENOME SEQUENCING PROJECT.

  • AND THEY EMBARKED ON THIS THING

  • THAT WAS ESSENTIALLY LIKE THE MOON SHOT FOR GENETICS,

  • AND THAT'S, YOU KNOW, THIS BIT ABOUT SEQUENCING A GENOME IS NON-TRIVIAL.

  • THIS IS DIFFICULT.

  • YOU KNOW, 6 BILLION NUCLEOTIDE PAIRS HAVE TO BE READ AND UNDERSTOOD,

  • SO THAT THE DATA ANALYSIS ALONE IS VAST,

  • NOT TO MENTION THE MACHINERY AND PEOPLE REQUIRED TO DO THIS.

  • UM, AND THE REASON THAT THEY WANTED TO DO THIS

  • IS BECAUSE THEY WANTED TO GET A HANDLE ON HEALTHCARE

  • AND HOW DO WE TREAT PEOPLE?

  • HOW DO WE UNDERSTAND THE ROOTS OF DISEASE?

  • REMEMBER, I SAID THAT THE ROOT OF DISEASE IS GENETIC.

  • WELL, WE CAN'T GET AT IT UNTIL WE UNDERSTAND THE GENOME, RIGHT?

  • SO, THEY SAID, "FINE, LET'S GO AFTER THIS THING.

  • "WE'RE GONNA PUT SOME MONEY AT THIS AND SOME SMART PEOPLE,"

  • SO THEY STARTED IN 1985-1986.

  • THEY PUT THESE TWO GUYS TOGETHER IN A LABORATORY,

  • WHICH TURNED OUT TO BE A MISTAKE.

  • THEY SPENT $3 BILLION IN 15 YEARS.

  • WELL, SOME PLACE ALONG THE WAY, THOSE TWO GUYS GOT IN A FIGHT,

  • AND ONE GUY LEFT THE NATIONAL HUMAN GENOME RESEARCH INSTITUTE-- N.H.G.R.I.--

  • AND THAT WOULD BE THE GUY IN FRONT, CRAIG VENTER--

  • AND HE STARTED HIS OWN COMPANY CALLED "CELERA."

  • AND THEN, THERE BECAME A COMPETITION

  • TO SEE WHO COULD SEQUENCE THE HUMAN GENOME FIRST--

  • THE GOVERNMENT-FUNDED N.H.G.R.I. OR CELERA.

  • AND SO, THESE TWO GUYS WENT AT IT, AND THEY ULTIMATELY SEQUENCED THE GENOME.

  • AND THE FIRST DRAFT OF THE GENOME WAS COMPLETED IN ABOUT 2000,

  • THE FINAL DRAFT IN ABOUT 2003.

  • SO, THAT WASN'T THAT LONG AGO.

  • SINCE 2003-- YOU KNOW, IT'S LIKE LESS THAN TEN YEARS AGO,

  • $3 BILLION, 15 YEARS,

  • THOUSANDS OF SCIENTISTS TO DO ONE HUMAN GENOME SEQUENCE.

  • SO-- AND JUST A COUPLE YEARS AFTER THAT, BY 2006,

  • IT TOOK, STILL, YEARS TO SEQUENCE ANOTHER HUMAN GENOME.

  • AND THAT WAS, UH-- THAT GENOME WAS JAMES WATSON,

  • WHO WAS ONE OF THE GUYS WHO DISCOVERED THE STRUCTURE OF D.N.A.

  • AND THAT TOOK A FEW MILLION DOLLARS.

  • 2007, FIRST COMPANY TOOK ITS FIRST CLIENT

  • TO SEQUENCE SOMEBODY FOR MONEY.

  • THAT'S (indistinct).

  • AND DID THAT FOR $350,000

  • AND IT STILL TOOK MONTHS TO DO JUST ONE SINGLE HUMAN GENOME.

  • AND THAT'S $350,000 AT NO PROFIT.

  • COUPLE OF YEARS LATER, 2009, IT'S DOWN TO $5,000

  • TO DO A WHOLE HUMAN GENOME AND THERE'S PROBABLY,

  • AT THIS POINT, 40 HUMAN GENOMES IN ALL OF HUMAN HISTORY

  • THAT HAVE BEEN SEQUENCED.

  • THAT'S TWO, THREE YEARS AGO, YOU KNOW?

  • TWO, THREE YEARS AGO, THERE'S ONLY 40 HUMAN GENOMES DONE.

  • AFTER ALL THIS.

  • NINE WEEKS-- LAST YEAR-- AT THE END OF LAST YEAR,

  • JUST A COUPLE OF MONTHS AGO, WE WERE DOWN TO ABOUT $3,000

  • TO DO A HUMANE GENOME SEQUENCE, AND IT TAKES LESS THAN TWO WEEKS--

  • ABOUT 15 DAYS.

  • SO, IF YOU THINK ABOUT THIS,

  • THERE'S A MILLION-FOLD DECREASE IN PRICE,

  • BETWEEN TEN YEARS AGO AND TODAY,

  • AND THE TIME TO DO IT HAS GONE FROM 15 YEARS TO ABOUT A WEEK.

  • ALL RIGHT, SO I'M TELLING YOU THIS

  • BECAUSE AS THE ECONOMICS OF THIS THING CHANGE

  • AND THE FEASIBILITY OF HAVING THE SEQUENCE DONE CHANGES,

  • IT WILL BEGIN TO COME INTO YOUR LIVES ON A DAILY BASIS.

  • AND SO, A LOT OF THIS TALK

  • IS GONE EXPLORE WHY THAT IS AND HOW IT CAN BE USED.

  • 2015, DOWN TO ABOUT $100.

  • NOW, THAT'S THE ESTIMATE-- I PERSONALLY DON'T BELIEVE IT.

  • SO, LET'S JUST SAY THAT FROM HERE UP, THAT'S FACT.

  • FROM HERE DOWN, THAT'S OPINION.

  • OKAY, UM...

  • IT'S IMPORTANT TO UNDERSTAND GENOMIC VARIATION,

  • AND I SAID I WAS GONNA KEEP THIS TALK AT A HIGH LEVEL,

  • AND SO, I'VE TRIED TO PUT AN ANALOGY TOGETHER

  • THAT MAY HELP YOU UNDERSTAND WHAT GENETIC VARIATION IS.

  • SO, IF YOU THINK OF THE GENOME AS A DIRECTIVE,

  • AND THAT DIRECTIVE, LET'S SAY IN THIS CASE,

  • IS "POUR CREAM IN MY COFFEE."

  • THAT'S A DIRECTIVE, THAT'S A DIRECTION.

  • SO, THE GENOME HAS DIRECTIVES THAT ARE OBVIOUSLY NOT THAT COMPLICATED,

  • BUT YOU COULD THINK OF THIS DIRECTIVE AS A GENE OR A SET OF GENES,

  • AND THIS IS WHAT WE WOULD EXPECT TO BE A STANDARD CORRECT DIRECTIVE.

  • BUT IF YOU HAVE GENOME VARIATION--

  • THERE'S LOTS OF KINDS A VARIATION THAT OCCUR, RIGHT?

  • SO, THIS IS ONE KIND.

  • IF WE JUST CHANGE ONE LETTER-- IF YOU CHANGE THE "P" TO AN "S"--

  • IN OTHER WORDS, IF YOU WERE TO, LIKE, CHANGE ONE OF THOSE NUCLEOTIDES

  • FROM SAY, AN "A" TO A "C"--

  • JUST ONE LETTER CHANGE CAN CHANGE THE DIRECTIVE ENTIRELY.

  • I MEAN, YOU CAN SEE THE CONTEXT OF IT-- "SOUR CREAM IN YOUR COFFEE"?

  • I'M NOT SO INTO THAT, PERSONALLY.

  • (clearing throat)

  • SO, THAT FIRST THING WAS A SINGLE NUCLEOTIDE VARIATION.

  • THIS NEXT ONE WE'RE LOOKING AT IS WHEN YOU TAKE ENTIRE CHUNKS

  • AND CHANGE WHERE THEY'RE LOCATED INSIDE THE DIRECTIVE, OKAY?

  • THIS IS A TRANS-LOCATION.

  • SO, IN OTHER WORDS, "POUR COFFEE IN MY CREAM."

  • WELL, OKAY, THAT MAY WORK.

  • YOU MAY GET SOME OF WHAT YOU WERE AFTER THERE.

  • IT'S NOT QUITE CORRECT.

  • TRANS-LOCATIONS.

  • AND THERE'S ALL KINDS OF TRANS-LOCATIONS.

  • THIS, YOU WOULD NEED TO READ THIS IN A MIRROR, BUT IT'S INVERTED, OKAY?

  • SO, THAT'S CALLED "INVERSION," ANOTHER KIND OF VARIATION.

  • AND THEN, THERE'S SOMETHING LIKE THIS-- "POUR SUGAR MY COFFEE."

  • WELL, THIS IS A SUBSTITUTION.

  • IN THIS CASE, WE'VE SUBSTITUTED THE WORD "SUGAR" FOR "CREAM,"

  • AND YOU KNOW, THAT'S PROBABLY OKAY.

  • MAYBE IT'S AN OKAY SUBSTITUTION.

  • THE POINT HERE BEING THAT EVEN IF THERE ARE SUBSTITUTIONS IN THE GENOME,

  • IT MADE MAY STILL RESULT IN FUNCTIONAL PROTEINS,

  • FUNCTIONAL GENES, FUNCTIONAL ACTIVITIES FOR THE BODY,

  • THAT NOT ALL SUBSTITUTIONS ARE BAD, OKAY?

  • THIS IS HOW EVOLUTION KIND OF OCCURS BY THIS SORT OF MECHANISM.

  • AND I JUST STUCK THIS ONE IN HERE TODAY-- ER, YESTERDAY, ACTUALLY--

  • FOR ALL OF YOU, BECAUSE THIS IS ONE THAT YOU'LL NEED TO KNOW ABOUT,

  • SINCE THIS IS THE PSYCHOLOGY DEPARTMENT.

  • THIS KIND OF CHANGE, "POUR CREAM CREAM CREAM CREAM CREAM CREAM,"

  • AND ONWARD, "IN MY COFFEE."

  • THIS IS CALLED A "COPY NUMBER VARIATION."

  • SO, IN OTHER WORDS, IT'S THE NUMBER OF COPIES

  • OF THE GIVEN PART OF A DIRECTIVE

  • OR DIRECTIVE INSIDE OF A CELL CHANGES HOW THAT CELL FUNCTIONS.

  • SO, FOR INSTANCE, IF THAT DIRECTIVE IS TO MAKE A CERTAIN GLYCOPROTEIN,

  • AND YOU HAVE A COPY NUMBER VARIATION LIKE THIS,

  • WHICH IS AN AMPLIFICATION,

  • YOU MAY HAVE WANTED TO HAVE ONE COPY OF THE GLYCOPROTEIN.

  • YOU MAY HAVE ENDED UP WITH THOUSANDS OF COPIES OF THE GLYCOPROTEIN.

  • THAT CHANGES THE CELL SURFACE STRUCTURE OF THE BRAIN OR ANY OTHER KIND OF CELL,

  • WHATEVER IT MAY BE.

  • I'M JUST THROWING THINGS OUT HERE.

  • BUT THIS IS WELL KNOWN IN THE WORLD OF PSYCHOLOGY AND PSYCHIATRY--

  • THESE COPY NUMBER VARIATIONS-- TO CAUSE PROBLEMS.

  • AND SCHIZOPHRENIA IS ONE OF THE BIG DISEASES OF STUDY,

  • AS FAR AS COPY NUMBER VARIATION.

  • AND SO, THIS IS--

  • THESE ARE VERY IMPORTANT FOR PSYCHOLOGY, PSYCHIATRY.

  • UH, AUTISM, AS WELL-- COPY NUMBER VARIATION.

  • AND THERE ARE HUNDREDS OF MILLIONS OF DOLLARS THAT ARE BEING INVESTED

  • BY OUR COUNTRY AND OTHER COUNTRIES AROUND THE WORLD,

  • DIFFERENT KINDS OF INSTITUTIONS, WHETHER IT'S THE MILITARY,

  • WHETHER IT'S WHOLE COUNTRIES, NON-PROFITS LIKE "AUTISM SPEAKS"--

  • THEY'RE TRYING TO UNDERSTAND THIS QUESTION,

  • "WHAT ARE THE COPY NUMBER DIFFERENCES THAT PRODUCE THIS DISEASE?"

  • OKAY.

  • WE'RE DOING GOOD ON TIME.

  • SO, CLINICAL UTILITY.

  • ACTIONABLE INFORMATION.

  • SO, IN GENOMIC MEDICINE, REALLY THE IMPORTANT THING IS--

  • I DON'T CARE HOW MUCH VARIATION IS THERE IN THE GENOME,

  • WHAT I CARE ABOUT IS HOW MUCH OF THIS VARIATION IN THE GENOME CAN I ACT UPON?

  • IN OTHER WORDS, IF THERE IS A GENOMIC VARIANT,

  • IS THERE SOMETHING I CAN DO ABOUT IT?

  • OKAY.

  • SO, TO THAT POINT, GENOMIC MEDICINE TRIES TO DO THINGS

  • LIKE DIAGNOSE IDIOPATHIC DISEASE, PRESCRIBE APPROPRIATE MEDICATIONS--

  • THAT'S PHARMACOGENOMICS.

  • THAT'S VERY, VERY IMPORTANT, PARTICULARLY FOR PSYCHOLOGY, PSYCHIATRY.

  • UH, MAKE BETTER INFORMED TREATMENT DECISIONS FOR CANCER OR WHATEVER.

  • IDENTIFY SPECIFIC PERSONAL HEALTH RISKS EARLY...

  • AND THIS IS PERSONALIZED MEDICINE.

  • EVERYBODY RESPONDS DIFFERENTLY TO DRUGS.

  • YOU MAY HAVE HEARD OF PERSONALIZED MEDICINE--

  • THAT'S THE BIG WORDS THAT GET TOSSED AROUND IN PUBLIC THESE DAYS.

  • AND WHAT THAT MEANS IS THE RIGHT DRUG FOR THE RIGHT PERSON AT THE RIGHT TIME.

  • WE'RE GONNA TALK ABOUT THAT A LITTLE BIT.

  • OKAY.

  • THIS... REALLY BUMS ME OUT.

  • THIS GUY IS...

  • NICK VOLKER.

  • NICK VOLKER LIVES ACROSS THE LAKE IN MILWAUKEE--

  • RIGHT OUTSIDE MILWAUKEE.

  • AND NICK IS ABOUT SEVEN YEARS OLD RIGHT NOW.

  • I'M GONNA TELL YOU NICK VOLKER'S STORY TO HELP ILLUSTRATE

  • WHY GENOMIC MEDICINE IS SO IMPORTANT TO ALL OF US.

  • SO, NICK-- BEAUTIFUL LITTLE BABY BOY,

  • TO TWO LOVING PARENTS IN WISCONSIN.

  • BY THE TIME HE WAS TWO YEARS OLD, HE HAD FAILED TO THRIVE.

  • HE WASN'T GAINING WEIGHT, HE WASN'T GROWING,

  • AND THERE WAS DEVELOPMENT OF FISTULA.

  • SO, FISTULA ARE ESSENTIALLY LITTLE HOLES-- LITTLE FORAMEN--

  • THAT GO FROM THE COLON AND THE RECTUM TO THE OUTSIDE OF THE BODY

  • AND EXPEL FECES AND FECAL MATERIAL.

  • THEY CAUSE SEPSIS-- INFECTION.

  • THEY'RE VERY DAMAGING.

  • SO, HIS PARENTS, COMPLETELY DISTRAUGHT ABOUT THIS THING,

  • SET OFF ON WHAT IS COMMONLY CALLED "THE DIAGNOSTIC ODYSSEY,"

  • WHICH MEANS, "LET'S TRY THIS-- THAT DIDN'T WORK.

  • "WELL, LET'S TRY THIS-- THAT DIDN'T WORK."

  • AND SO ON AND SO FORTH.

  • AND IT'S KIND OF LIKE THROWING A BUNCH OF SPAGHETTI AT THE WALL

  • AND SEEING WHICH NOODLES STICK.

  • "THE DIAGNOSTIC ODYSSEY."

  • SO, NICK WENT THROUGH THE DIAGNOSTIC ODYSSEY,

  • AS THEY TRIED TO FIND OUT WHAT WAS WRONG WITH HIM.

  • AND IN THE PROCESS, BETWEEN THE AGE OF TWO AND FOUR,

  • HE WENT THROUGH A HUNDRED-- A HUNDRED!--

  • SEPARATE GENERAL ANAESTHESIA OPERATIONS,

  • TO REPAIR THE FISTULA THAT CONTINUED TO FORM BETWEEN HIS RECTUM

  • AND THE OUTSIDE OF HIS BODY.

  • AND IT WAS TOTALLY UNSUCCESSFUL.

  • AND BY THE TIME NICK WAS FOUR YEARS OLD-- FOUR YEAR OLD KID--

  • HE WEIGHED NINE KILOGRAMS.

  • THAT'S 20 POUNDS!

  • FOUR YEAR OLD WEIGHED 20 POUNDS, AND HE WAS FAILING.

  • LITERALLY, FAILING.

  • THE KID WAS JUST NOT GOING TO MAKE IT.

  • AND THE SURGERIES GOT MORE AND MORE RADICAL.

  • AT FIRST, THEY TRIED TO DO RE-SECTIONS ON HIS COLON.

  • THAT DIDN'T WORK.

  • MEANING, TAKE SECTIONS OUT OF HIS COLON.

  • AND ULTIMATELY, WHAT THEY HAD TO DO, WAS COMPLETELY REMOVE HIS COLON

  • FROM THE END OF THE SMALL INTESTINE, THROUGH THE RECTUM.

  • SO, HERE HE IS, FOUR YEARS OLD, STARTING OUT HIS LIFE LIKE THAT.

  • AND ABOUT THE AGE OF FOUR, WHEN HE WAS RECOVERING FROM THIS SURGERY,

  • HE BEGAN TO BE FED THROUGH A G-TUBE.

  • AND ALL HIS BROTHERS AND SISTERS AND FRIENDS

  • WERE OUT HAVING A GOOD TIME WITH HALLOWEEN AND EATING HALLOWEEN CANDY,

  • AND POOR NICK VOLKER COULD NOT EAT, HE COULDN'T DRINK.

  • HE WASN'T ALLOWED TO HAVE THESE THINGS.

  • AND AWARE OF HOW MUCH SICKNESS HE WOULD GET

  • EVERY TIME HE WOULD EAT AND DRINK,

  • HE WOULD CONTINUALLY BEG HIS MOTHER FOR FOOD AND WATER.

  • HE DIDN'T CARE IF HE GOT SICK.

  • HE JUST WANTED TO EAT.

  • I MEAN, THIS BREAKS MY HEART.

  • SO, FINALLY, THEY GOT WISE,

  • AND THEY SAID, "WE TRIED EVERYTHING ELSE."

  • SO, AT 100 SURGERIES, HE HAD CAPPED-OUT HIS MEDICAL EXPENSE.

  • MORE THAN $2 MILLION HAD GONE INTO DIAGNOSIS AT THIS POINT.

  • STILL DIDN'T HAVE ANY IDEA WHAT IT WAS.

  • THEY SAID, "FINE, LET'S TRY THIS ONE LAST THING.

  • "LET'S SEQUENCE HIS GENOME."

  • SO, THEY DID.

  • THEY DID THIS AT THE MEDICAL COLLEGE OF WISCONSIN.

  • THIS IS A VERY FAMOUS CASE-- YOU GUYS CAN LOOK THIS UP.

  • IT'S ALL OVER THE PLACE.

  • AND WHAT THEY FOUND WHEN THEY SEQUENCED HIS GENOME

  • WAS THAT THERE WAS A VARIATION

  • IN A PRO-INFLAMMATORY PROTEIN CALLED X.I.A.P.

  • AND THAT ONE VARIATION, BASICALLY, EXPLAINED AWAY THE DISEASE THAT HE HAD.

  • AND SO, WHAT THEY DID

  • IS THEY GAVE HIM A BONE MARROW TRANSPLANT.

  • SO, TO GIVE SOMEBODY A BONE MARROW TRANSPLANT

  • FOR SOME SORT OF DIGESTIVE DISORDER, THAT DIDN'T QUITE JIVE.

  • THEY WOULD NEVER REALLY HAVE KNOWN TO DO THAT,

  • HAD THEY NOT SEQUENCED HIS GENOME.

  • AND IT'S A RISKY THING IN A LITTLE KID, PARTICULARLY, SICK--

  • SOMEONE WHO IS AS SICK AS NICK WAS.

  • SO, THEY GAVE HIM THE BONE MARROW TRANSPLANT.

  • FORTY-TWO DAYS LATER,

  • HE WAS OUT OF THE HOSPITAL, GAINING WEIGHT, EATING AND DRINKING.

  • AND SINCE THAT TIME, HE HAS GROWN NORMALLY.

  • I FIND THIS TO BE COMPLETELY UNACCEPTABLE, AS A SOCIETY.

  • WE ARE BETTER THAN THIS.

  • WE KNEW THE RIGHT THING TO DO AHEAD OF TIME-- THE SMART THING TO DO.

  • WE SPENT $2 MILLION AND PUT THIS KID AND HIS FAMILY

  • ON A DIAGNOSTIC MEDICAL ODYSSEY THAT WAS PAINFUL AND EXPENSIVE.

  • WE COULD SPENT $30,000 WHEN WE FIRST SAW THE PROBLEM,

  • SEQUENCED HIS GENOME, SAVED HIS COLON, AND RECTIFIED HIS ENTIRE LIFE.

  • THIS IS WHY GENOMIC MEDICINE IS IMPORTANT.

  • THIS IS WHY YOU WILL SEE IT IN YOUR LIVES.

  • IT'S SO POWERFUL, THAT IT'S GONNA HELP A LOT OF PEOPLE

  • AND A LOT OF DIFFERENT DISEASES.

  • AND BY THE WAY, THAT DISEASE IS IDIOPATHIC AND CRYPTOGENIC,

  • MEANING THAT THE ANSWER IS HIDDEN INSIDE THE GENOME.

  • OKAY... PHARMACOGENOMICS.

  • (clearing throat)

  • SO, PHARMACOGENOMICS IS THE RELATIONSHIP BETWEEN YOUR GENOME--

  • AND THE VARIATIONS IN YOUR GENOME--

  • AND YOUR ABILITY TO METABOLIZE DIFFERENT DRUGS.

  • SO, LOTS OF PEOPLE ARE ON PRESCRIPTION DRUGS,

  • MANY PEOPLE IN THIS AUDIENCE ARE ON PRESCRIPTION DRUGS.

  • HAVE YOU EVER ASKED YOURSELF WHETHER OR NOT THAT DRUG WAS WORKING?

  • HAVE YOU EVER KNOWN SOMEBODY WHO WAS SICK AND PRESCRIBED DRUGS,

  • AND THE DRUGS DIDN'T SEEM TO WORK?

  • TURNS OUT THAT THIS HAPPENS ALL THE TIME...

  • AND IT'S BECAUSE EVERYBODY METABOLIZES THINGS SLIGHTLY DIFFERENT.

  • SO, RIGHT NOW, THERE IS ABOUT 125 DRUGS THAT ARE COMMERCIALLY MANUFACTURED,

  • FOR WHICH THERE ARE GENETIC VARIANTS KNOWN

  • THAT AFFECT THE METABOLISM AND ACTIVITY OF THOSE DRUGS.

  • SO, THIS IS A SMALL LIST, AND THERE'S THE REFERENCE AT THE BOTTOM,

  • IF YOU WANT TO CHECK THIS.

  • AND I'D LIKE TO FOCUS ON ONE OF THESE.

  • OKAY, SO THESE ARE REALLY THE TOP TWO PRESCRIBED DRUGS IN OUR COUNTRY--

  • THIS IS STATINS.

  • PEOPLE WHO HAVE HIGH CHOLESTEROL, TRIGLYCERIDES, THAT KIND OF THING.

  • AND THIS IS PLAVIX CLOPIDOGREL.

  • OKAY, SO IN THIS CASE, WHAT WE KNOW FOR CLOPIDOGREL--

  • THAT THERE IS A VARIANT IN A GENE CALLED CYP2C19,

  • AND THAT PARTICULAR VARIATION MAKES THE DIFFERENCE

  • BETWEEN BEING ABLE TO METABOLIZE THE PRO-DRUG

  • INTO ITS ACTIVE FORM OR NOT.

  • IF YOU HAVE ONE VARIATION, YOU SIMPLY CAN NEVER METABOLIZE THE DRUG,

  • YOU WILL DERIVE NO BENEFIT FROM THE DRUG.

  • SO...

  • THIS IS THE DRUG, CLOPIDOGREL-- PLAVIX.

  • NOW, FIRST OF ALL, I HAVE TO SAY

  • THAT MANY, MANY PEOPLE ARE HELPED BY THIS DRUG.

  • THIS DRUG IS AN ANTI-PLATELET.

  • SO, FOR PEOPLE WHO HAVE CARDIAC DISEASE

  • OR ANCILLARY-RELATED DISEASES LIKE STROKE,

  • THIS IS A VERY EFFECTIVE DRUG

  • AND IT HELPS MILLIONS AND MILLIONS OF PEOPLE, ALL AROUND THE WORLD.

  • I DON'T WANNA BASH THIS DRUG-- IT'S A GOOD DRUG.

  • BUT THE DRUG JUST ACTUALLY DOESN'T WORK ON EVERYBODY.

  • OKAY, SO...

  • WHEN I SAY APPROXIMATELY 30 PERCENT OF PEOPLE-- THIS IS GONNA--

  • REMEMBER THIS PART, FOR THE NEXT SECTION,

  • WHEN I TALK ABOUT EVOLUTION AND GLOBAL GENOGRAPHY.

  • HOW WELL THIS DRUG WORKS HAS SOMETHING TO DO, IN MANY CASES,

  • WITH WHAT YOUR ETHNICITY IS...

  • BECAUSE EVERYBODY'S ETHNICITY BRINGS WITH IT

  • A DIFFERENT SET OF GENOMIC INFORMATION,

  • AND SMALL LITTLE VARIATIONS CAN CHANGE HOW WELL YOU METABOLIZE DRUGS.

  • SO, 30 PERCENT OF THE PEOPLE, ON AVERAGE,

  • WHO ARE PRESCRIBED THIS DRUG, CANNOT USE IT-- CAN'T METABOLIZE IT.

  • OKAY.

  • THAT WE TALKED ABOUT.

  • SO, LET'S JUST TALK ABOUT THE BUSINESS OF THIS DRUG FOR A SECOND.

  • UH, PLAVIX IS MANUFACTURED GLOBALLY.

  • IT IS DISTRIBUTED GLOBALLY TO 125 COUNTRIES AROUND THE WORLD.

  • HUNDREDS OF MILLIONS OF PEOPLE TAKE THIS DRUG.

  • IN THE UNITED STATES, THE ANNUAL REVENUES-- AT LEAST IN 2009--

  • FOR PLAVIX WERE $6.6 BILLION.

  • OKAY, THAT'S A LOT OF MONEY.

  • NOW, ANY OF YOU, UNLESS YOU'VE BEEN LIVING UNDER A ROCK,

  • KNOW THAT OUR HEALTHCARE SYSTEM HAS GOT SOME FINANCIAL PROBLEMS, RIGHT?

  • OKAY, SO CHECK IT OUT.

  • YOU DO THE MATH ON THIS-- AND IT'S PRETTY SIMPLE MATH--

  • 6.6 BILLION TIMES 30 PERCENT OF THE PEOPLE THAT CAN'T ACTUALLY USE IT,

  • THAT'S $2 BILLION WASTED, EVERY SINGLE YEAR.

  • THAT'S ONE DRUG, ONE COUNTRY, ONE YEAR.

  • IF YOU BEGIN TO EXTRAPOLATE THIS KIND OF THING OUT TO LOTS OF DRUGS

  • AND ALL COUNTRIES THAT COULD USE THIS SORT OF TECHNOLOGY,

  • YOU BEGIN TO SEE, THAT BY TARGETING PEOPLE WITH THEIR DRUG BETTER,

  • WE SAVE A LOT OF MONEY, NOT TO MENTION

  • THAT THERE ARE 30 PERCENT OF THE PEOPLE OUT THERE

  • THAT DERIVE NO BENEFIT FROM THIS DRUG!

  • IT'S NOT HELPING THEM!

  • AND SO, WHAT HAPPENS?

  • THEY GET SICK.

  • WHEN THEY GET SICK, WHAT DO THEY DO?

  • THEY GO TO THE HOSPITAL.

  • AND HOSPITALS ARE EXPENSIVE.

  • YOUR GOAL IS TO STAY OUT OF THE HOSPITAL.

  • OKAY, THIS IS JUST ONE EXAMPLE.

  • THERE'S, YOU KNOW, 125 THAT WE KNOW OF LIKE THIS.

  • NOW, THIS-- (chuckling) THIS DRIVES ME CRAZY,

  • AND FORGIVE ME FOR BEING PASSIONATE, BUT...

  • PLAVIX HAS ACTUALLY A WARNING ON THE BOX...

  • THAT THE F.D.A. MANDATES HAS TO BE ON THE BOX-- A BLACK BOX WARNING.

  • WHEN YOU LIKE-- IF YOU EVER BUY A PACK OF CIGARETTES,

  • THE BLACK BOX WARNING THAT SAYS, "WARNING-- IF YOU SMOKE THIS,

  • "YOU WILL GET CANCER AND DIE.

  • "IT WILL BE AWFUL." (audience laughing)

  • WELL-- RIGHT?

  • SO, PLAVIX HAS A BLACK BOX WARNING RIGHT ON THAT BOX THAT I SHOWED YOU

  • THAT SAYS, "TO TAKE THIS DRUG,

  • "YOU NEED TO TEST WHICH VARIANT OF CYP2C19 YOU ACTUALLY HAVE."

  • AND NOBODY DOES THE TESTING.

  • CRAZY.

  • OKAY.

  • PRENATAL GENETIC DIAGNOSTICS.

  • SO, IF YOU CAN SEQUENCE AN ADULT HUMAN

  • AND DETERMINE ALL THESE THINGS FOR AN ADULT HUMAN,

  • YOU OUGHT TO BE ABLE TO DO IT

  • FOR SOMEBODY THAT'S DEVELOPING TO BE AN ADULT,

  • ALL THE WAY IN THE EMBRYO.

  • SO, WE DO SOME OF THIS KIND OF STUFF RIGHT NOW

  • ON A LIMITED BASIS FOR DOWN SYNDROME OR CYSTIC FIBROSIS

  • OR VARIOUS OTHER THINGS.

  • UM...

  • USUALLY, WHEN I SHOW THIS SLIDE, PEOPLE'S FIRST REACTION IS,

  • "THE REASON WE'RE DOING PRENATAL DIAGNOSTICS

  • "IS TO DETERMINE WHETHER OR NOT THIS PARTICULAR INFANT

  • "HAS SOME SORT OF MAJOR MEDICAL PROBLEM

  • "AND DO WE WANT TO CONTINUE THIS PREGNANCY?"

  • I WOULD SUBMIT TO YOU THAT THERE ARE FAR LESS DARKER THINGS

  • THAT WE COULD BE GAINING FROM PRENATAL DIAGNOSTIC SCREENING.

  • FOR INSTANCE, JUST LIKE SOME ADULTS CANNOT METABOLIZE CERTAIN DRUGS,

  • YOU PROBABLY HAVE MET PEOPLE WITH FOOD ALLERGIES

  • OR HAVE PROBLEMS WITH CHOLESTEROL-- HYPERCHOLESTEROLEMIA.

  • MIGHT BE NICE TO KNOW, BEFORE THE BABY ACTUALLY COMES OUT OF THE MOM,

  • WHETHER OR NOT THEY HAVE, LIKE, A PROBLEM METABOLIZING CHOLESTEROL,

  • AND IF SO, WE MAYBE DON'T WANT TO BREASTFEED THE BABY,

  • OR MAYBE WE WANT TO MONITOR THE CHOLESTEROL LEVEL IN MOM,

  • WHILE SHE'S BREASTFEEDING, OR PUT HER ON STATINS.

  • THESE KINDS OF THINGS THAT WILL LEAD TO HEALTHCARE, YOU KNOW,

  • RIGHT FROM THE START, FROM THE FIRST BREATH.

  • AND SO, THIS INFORMATION, YOU KNOW, WHEN IT'S COLLECTED IN UTERO

  • CAN FOLLOW YOU FOR THE REST OF YOUR LIFE,

  • BECAUSE YOUR D.N.A. IS INVARIANT.

  • IT DOESN'T REALLY CHANGE.

  • THEY ONLY TIME IT REALLY CHANGES IS WHEN YOU GET CANCER, ALL RIGHT?

  • SO, ONE OF THE OTHER GREAT USES OF IN--

  • YOU KNOW, IN UTERO DIAGNOSTICS, IS THAT YOU HAVE A BASELINE

  • FOR THE REST OF YOUR LIFE.

  • YOU KNOW, BEFORE YOU HAVE BEEN EXPOSED TO ANY KIND OF ENVIRONMENTAL HAZARD,

  • YOU KNOW WHAT YOUR NASCENT GENOME SHOULD LOOK LIKE.

  • SO, EVERYBODY KNOWS THAT THERE'S THIS RELATIONSHIP

  • BETWEEN THE ENVIRONMENT AND THE GENOME, ALL RIGHT?

  • SO, SOME OF THE ST-- THIS IS JUST AN EXAMPLE RIGHT HERE--

  • IT TURNS OUT THAT FOR EVERY THREE CIGARETTES YOU SMOKE--

  • THE QUANTITATIVE ANALYSIS HAS BEEN DONE ON THIS--

  • AGAIN, FALLING IN THE CATEGORY OF FACT.

  • FOR EVERY THREE CIGARETTES YOU SMOKE,

  • YOU ACCUMULATE ONE SINGLE NUCLEOTIDE POLYMORPHISM MUTATION.

  • IN OTHER WORDS, YOU CHANGE ONE BASE IN YOUR GENOME.

  • WELL, SO THE PROBABILITY IS THAT EVERY TIME--

  • YOU GOT 6 BILLION BASES TO CHANGE.

  • YOU CHANGE ONE OF 'EM, PROBABLY THAT BASE CHANGE

  • IS NOT GONNA HAPPEN IN ANYTHING IMPORTANT, BUT THERE'S NO GUARANTEE.

  • AND SO, THIS IS THE KIND OF THING THAT LEADS TO CANCER PROGRESSION, RIGHT?

  • IT'S WHEN YOU GET THESE ACCUMULATED BASE CHANGES AND MODIFICATIONS

  • THROUGH TOXICOLOGY OF YOUR GENOME.

  • THAT'S ONE PART OF THE DISEASE.

  • RIGHT, SO I SAID I WAS GONNA MAKE HIS PERSONAL...

  • AND GIVE YOU ALL REAL EXAMPLES

  • OF WHAT I'M TALKING ABOUT WITH REAL PEOPLE.

  • AND RIGHT NOW, I'M GOING TO GIVE YOU AN EXAMPLE FROM ME.

  • SO, I'VE HAD MY GENOME ANALYZED,

  • AND I'M GONNA SHARE WITH YOU

  • THE ACTUAL RESULTS FROM MY GENOME ANALYSIS--

  • AT LEAST PARTS OF THEM-- I'M NOT HIDING ANYTHING.

  • I'M NOT AFRAID OF DISCRIMINATION BASED ON MY GENETIC MATERIAL.

  • MANY ARE.

  • (clearing throat) SO, MY GENOME WAS ANALYZED.

  • ABOUT 1.2 MILLION DATA POINTS WERE COLLECTED

  • FROM ALL THROUGHOUT MY GENOME,

  • AND THOSE WERE USED TO PROVIDE RISK ASSESSMENTS

  • FOR VARIOUS COMMON DISEASE,

  • FOR WHICH GENETIC INFORMATION IS CURRENT KNOWN.

  • IN OTHER WORDS, THESE ARE PROBABILITIES.

  • IN THIS PARTICULAR SLIDE, WHAT YOU'RE LOOKING AT IS THE GENETIC RISK

  • OR THE GENETIC PROBABILITY THAT I WILL GET A CERTAIN KIND OF DISEASE.

  • AND THESE ARE ACTUALLY, UM... RANKED.

  • AT LEAST THEY SHOULD BE RANKED IN TERMS OF GENETIC RISK, FROM HIGHEST TO LOWEST.

  • SO, RIGHT AT THE TOP-- CROHN'S DISEASE.

  • THAT'S A GASTROINTESTINAL DISORDER.

  • RIGHT BELOW IT, ULCERATIVE COLITIS-- ALSO GASTROINTESTINAL DISORDER.

  • NOW, I'VE NEVER BEEN DIAGNOSED WITH CROHN'S DISEASE,

  • BUT THAT'S PROBABLY BECAUSE I ABSOLUTELY HATE GOING TO THE DOCTOR

  • AND I NEVER GO, BUT I CAN TELL YOU THAT SOMETHING'S NOT RIGHT

  • AND I PROBABLY SHOULD GO TO THE DOCTOR.

  • AND SO, FOR ALL OF YOU WHO ARE DOING SOCIOLOGY AND PSYCHOLOGY,

  • THIS IS A BIG AREA OF RESEARCH IN THE FUTURE, STARTING RIGHT NOW,

  • AND THAT IS "WHAT DO PEOPLE DO WITH THE GENETIC INFORMATION,

  • "ONCE THEY HAVE IT?

  • "WHAT'S THEIR BEHAVIOR?"

  • IF I TOLD YOU THAT YOU HAD A PRETTY CHANCE GETTING DIABETES,

  • WOULD YOU PUT DOWN THE CHEESEBURGER?

  • WELL, THEY'RE TELLING ME THAT I HAVE A PRETTY GOOD, YOU KNOW, CHANCE

  • OF GETTING CROHN'S DISEASE.

  • DID I GO TO THE DOCTOR?

  • I DID NOT!

  • AND OSTENSIBLY, I AM SUPPOSED TO BE A SMART PERSON--

  • BRINGS THAT INTO QUESTION, I WOULD THINK.

  • SO, THAT'S THE GENETIC RISK.

  • THIS IS THE LIFETIME RISK.

  • AND SO, THE LIFETIME RISK IS A CALCULATION THAT GETS MODIFIED,

  • BASED ON MY ETHNICITY.

  • ALL RIGHT, SO I BROUGHT THIS THING UP ABOUT ETHNICITY

  • A COUPLE TIMES FOR DRUG METABOLISM, AND ALSO FOR DISEASES.

  • CERTAIN POPULATIONS AROUND THE WORLD

  • HAVE MORE OR LESS PROBABILITY

  • OF GETTING A GIVEN KIND OF DISEASE.

  • YOU SEE DISEASES RISING WITH GREATER FREQUENCY.

  • FOR INSTANCE, I WAS JUST IN SAUDI ARABIA NOT LONG AGO,

  • AND IN SAUDI ARABIA, THEY HAVE A HORRIBLE, HORRIBLE PROBLEM

  • WITH METABOLIC DISEASE.

  • AND MORE THAN 40 PERCENT OF THE PEOPLE IN SAUDI ARABIA ARE BECOMING DIABETIC.

  • FORTY PERCENT IN THAT POPULATION!

  • IT'S INCREDIBLE.

  • IT'S NOTHING LIKE THAT HERE.

  • EVEN THOUGH OUR PERCENTAGE IS QUITE HIGH.

  • SO, THIS LOOKS AT MY LIFETIME RISK OF DISEASE,

  • AND YOU CAN SEE THAT CROHN'S DISEASE IS NOT IN THERE,

  • BUT HYPERTENSION IS AT THE TOP OF THE LIST, HEART ATTACK, OBESITY--

  • AND I WOULD SAY THAT THOSE ARE ALL PRETTY WELL LIKELY FOR ME, AS WELL.

  • SO, THAT'S ME.

  • OTHER FUN STUFF, UM...

  • IT'S NOT JUST ABOUT DISEASE.

  • YOU CAN ACTUALLY USE THE GENETICS

  • TO DETERMINE A LOT OF OTHER INTERESTING THINGS.

  • UM, IN THIS CASE, YOU KNOW, BITTER TASTE PERCEPTION.

  • CAN I TASTE BITTER THINGS?

  • YES.

  • EYE COLOR--

  • OKAY, SO IF YOU LOOK AT THAT, WHERE IT SAYS "EYE COLOR,"

  • IT SAYS I'M MOST LIKELY TO HAVE BROWN EYES--

  • 60 PERCENT CHANCE OF BROWN EYES.

  • I DO HAVE BROWN EYES.

  • PATTERN BALDNESS DOWN THERE-- 20 PERCENT CHANCE

  • OF DEVELOPING MALE PATTERN BALDNESS BY AGE 40.

  • WELL, THAT HAPPENED. (audience laughing)

  • IT'S NOT FUNNY. (audience laughing)

  • OKAY, JUST A FEW OTHER THINGS OFF THIS LIST THAT I HAVE BEEN TESTED FOR.

  • UM, IRRITABLE BOWEL SYNDROME, DIABETES,

  • RESTLESS LEG, DEMENTIAS, ALZHEIMER'S, TYPE TWO DIABETES--

  • WOMEN, BREAST CANCER--

  • PROSTATE CANCER, HEIGHT, A-FIB,

  • YOUR BODY MASS INDEX-- ALL THE STUFF.

  • STROKE... AND PERSONAL ANCESTRY.

  • SO, I KNOW ALL THE WAY BACK TO AFRICA,

  • HOW MY ANCESTORS MIGRATED ACROSS THE GLOBE.

  • ALL RIGHT, SO HOPEFULLY, I'VE SHARED WITH YOU

  • SOME OF THE IMPORTANT THINGS ABOUT GENOMIC MEDICINE,

  • AND YOU CAN UNDERSTAND

  • THAT THIS IS SOMETHING THAT WILL HELP A LOT OF PEOPLE.

  • THERE'S 7 BILLION PEOPLE ON THE PLANET RIGHT NOW.

  • WE JUST PASSED THAT MARK.

  • NOW, HOW THEY FIGURE THIS OUT, I DON'T KNOW.

  • BUT I'M JUST GONNA TAKE IT AS A TACIT ASSUMPTION

  • AND PUT THIS IN THE "FACT" CATEGORY, THAT THERE'S 7 BILLION PEOPLE.

  • HOW IN THE WORLD ARE WE GONNA SEQUENCE 7 BILLION PEOPLE?

  • OR EVEN SOME FRACTION OF 7 BILLION PEOPLE,

  • SO THAT THEY CAN DERIVE THE BENEFITS OF GENOMIC MEDICINE AND GENETIC MEDICINE?

  • THIS IS A MAJOR BUSINESS PROBLEM, AS WELL AS SCIENTIFIC PROBLEM.

  • SO, THERE IS SO MANY OPPORTUNITIES FOR PEOPLE OF YOUR GENERATION

  • TO MOVE INTO THIS,

  • AND SO MANY AREAS THAT ARE NOT EVEN NECESSARILY DIRECTLY WITH THE GENETICS.

  • THEY MAY BE THE BUSINESS PEOPLE BEHIND THIS,

  • BUT THIS IS A PROBLEM THAT NEEDS TO GET SOLVED.

  • SO, ONE OF THE WAYS THAT IT'S GETTING SOLVED

  • IS TO MAKE BIO-BANKS.

  • IN OTHER WORDS, THEY ARE COLLECTING SAMPLES

  • ALL AROUND THE WORLD FROM INDIVIDUALS,

  • AND THEY'RE PUTTING THEM IN A BANK, AND THEY'RE SEQUENCING THEM, AS THEY CAN.

  • NOW, THIS PHOTOGRAPH THAT YOU'RE LOOKING AT--

  • THIS IS A BIO-BANK THAT IS IN THE BASEMENT OF deCODE GENETICS

  • IN REYKJAVIK, ICELAND.

  • SO, I WANNA DESCRIBE WHAT IT IS THAT YOU'RE SEEING HERE.

  • THESE-- THIS ARMATURE THAT YOU SEE HAS A TRAY IN IT.

  • THIS TRAY IS ACTUALLY ABOUT A METER AND A HALF LONG BY ABOUT 70 CENTIMETERS WIDE.

  • IT'S A PRETTY BIG TRAY, AND IT'S GOT 800 BLOOD TUBES IN IT.

  • THESE ARE TEN MILLILITER BLOOD TUBES, OKAY?

  • SO...

  • WHAT YOU'RE SEEING IS ACTUALLY AT ABOUT MINUS 40 DEGREES CENTIGRADE.

  • AND THIS ENTIRE ROOM IS MINUS 40, AND THESE ROBOTS--

  • THAT ROBOT ARM THING YOU SEE-- IS AT MINUS 40.

  • AND ON THE WALLS BEHIND IT,

  • WHAT YOU'RE SEEING ARE RACKS AND RACKS AND RACKS OF THESE BLOOD TUBES.

  • THAT, THAT YOU'RE LOOKING AT-- WHICH AMAZES ME--

  • IS THE BIOLOGICAL SAMPLES

  • FROM THE ENTIRE ADULT POPULATION OF ICELAND.

  • THAT'S AN ENTIRE NATION!

  • YOU'RE LOOKING AT BLOOD FROM A NATION RIGHT HERE.

  • THAT'S COMING TO A COUNTRY NEAR YOU, LIKE THIS ONE.

  • IN FACT, I WOULD BE WILLING TO BET ANY AMOUNT OF MONEY

  • THAT THE VAN ANDEL INSTITUTE

  • HAS EITHER BUILT OR IS BUILDING A BIO-BANK.

  • AND THE VAN ANDEL INSTITUTE IS DIRECTLY CONNECTED TO SPECTRUM HEALTH.

  • THIS WILL BE IMPORTANT FOR ALL OF US.

  • SO, ONCE YOU COLLECT ALL THE BIOLOGICAL SAMPLES AND STORE THEM,

  • WHAT'S THE NEXT STEP?

  • WE HAVE TO SEQUENCE THEM,

  • SO YOU GO INTO SOME SORT OF, LIKE, FACTORY-SCALE SEQUENCING.

  • SO, AMERICA'S BEEN GREAT AT MANUFACTURING.

  • MAYBE THIS IS OUR NEW KIND OF MANUFACTURING.

  • WE'RE GONNA MANUFACTURE GENOME SEQUENCES.

  • THAT'S WHAT MY COMPANY DOES.

  • YOU'RE LOOKING, ACTUALLY, AT THE WORLD'S LARGEST GENOME SEQUENCING FACTORY--

  • PART OF THE FACTORY.

  • OH, AND YEAH-- I LOVE THIS. (laughing)

  • SO, YOU SAW ALL THE VARIATION IN MY GENOME.

  • YOU SAW ALL THE FACT THAT I HAD DIFFERENT KINDS OF RISK FOR DIFFERENT DISEASES...

  • BEGS THE QUESTION, "WHAT'S THE NORMAL GENOME?

  • "WHAT IS NORMAL?"

  • WELL, THIS IS AN INTERESTING QUESTION THAT WE'RE TRYING TO ANSWER RIGHT NOW.

  • ONE GROUP, IN PARTICULAR, THE SCRIPPS INSTITUTE,

  • OUT IN LA JOLLA, CALIFORNIA...

  • THEY ARE TRYING TO ANSWER THIS,

  • AND THEY'RE DOING IT THROUGH WHAT'S CALLED "THE WELLDERLY STUDY,"

  • IN OTHER WORDS, "THE WELL ELDERLY."

  • AND THE THINKING BEHIND THIS IS THAT IF YOU'VE GOTTEN TO BE AN OLD PERSON

  • AND YOU HAVEN'T HAD ANY MAJOR DISEASES YET,

  • THAT PROBABLY, YOUR GENOME, YOUR COPY OF ALL THE GENES, IS, YOU KNOW, CORRECT.

  • THERE AREN'T ANY ERRORS IN THERE.

  • AND SO, THEY'RE TRYING TO FIGURE OUT,

  • "HOW IS THAT DIFFERENT FROM EVERYBODY ELSE?"

  • SO, THEY'VE COLLECTED A COHORT AND THEY'RE NOW UP TO--

  • CLOSE TO 2,000 SAMPLES OF PEOPLE WHO ARE AT LEAST 84 YEARS OLD

  • AND HAVE NEVER BEEN ON A PRESCRIPTION MEDICATION,

  • HAVEN'T HAD ANY MAJOR HEALTH EPISODES LIKE HEART ATTACK, STROKE, WHATEVER,

  • AND THEY HAVE A WHOLE SET OF PEOPLE IN THIS COHORT

  • THAT ARE SUPER CENTENARIANS,

  • WHO ARE OLDER THAN 110 YEARS OLD,

  • AND THEY'RE STUDYING THESE GENOMES TO FIGURE OUT,

  • "WHY DO THESE GUYS GET TO LIVE SO LONG?"

  • RIGHT?

  • EVERYBODY WANTS TO LIVE A LONG TIME.

  • "THE WELLDERLY STUDY."

  • NOW, THIS BLOWS MY MIND.

  • THIS IS THE OTHER SIDE OF THE SPECTRUM.

  • I CAN STOP LOOKING AT THIS PICTURE.

  • I FOUND THIS PICTURE A COUPLE MONTHS AGO.

  • IT JUST-- IT ABSOLUTELY ASTOUNDS ME.

  • THIS IS-- YOU'RE LOOKING, RIGHT NOW, AT BROOKE GREENBERG.

  • SO, RATHER THAN AGING...

  • BROOKE DOES NOT AGE.

  • BROOKE CAME OUT OF HER MOTHER A NORMAL BABY,

  • AND ABOUT THE AGE OF TWO-ISH-- MAYBE A LITTLE LESS-- SHE STOPPED.

  • SHE DIDN'T GROW.

  • SHE DIDN'T DEVELOP.

  • HER BRAIN DIDN'T DEVELOP, HER BODY DIDN'T DEVELOP,

  • AND WHAT YOU'RE LOOKING AT RIGHT NOW

  • IS BROOKE GREENBERG AT AGE OF 19 YEARS OLD,

  • BEING HELD IN THE ARMS OF HER 17 YEAR OLD YOUNGER SISTER.

  • I THINK THAT'S AMAZING!

  • HOW COME SHE'S NOT AGING?

  • AND IF THERE IS SOME SORT OF TRIGGER THAT PREVENTS PEOPLE FROM AGING,

  • HOW CAN WE HARNESS THAT, SO WE CAN ALL GET LONGER, BETTER LIVES?

  • IT'S JUST INCREDIBLE TO ME.

  • SHE'S JUST AN INFANT-- JUST THIS PERFECT, LITTLE INFANT.

  • SHE'S 19 YEARS OLD!

  • SO...

  • HERE-- THE QUESTION IS, "ARE AGING AND DEVELOPMENT COUPLED?

  • "CAN THEY BE DECOUPLED?"

  • THIS GUY, NICKY FREEMAN...

  • HE POSES ANOTHER QUESTION.

  • SO...

  • NICKY AGES AT 25 PERCENT THE PACE

  • THAT EVERYBODY ELSE DOES.

  • YOU'RE SEEING THIS PHOTOGRAPH OF HIM FROM 2011.

  • NICKY, IN THIS PHOTOGRAPH IS 40-- FOUR, ZERO-- YEARS OLD.

  • THAT IS THE SAME AGE AS ME, ESSENTIALLY.

  • I'M A LITTLE OLDER.

  • FORTY YEARS OLD!

  • BUT HE HAS THE BODY, AND APPARENTLY, THE INTELLECT

  • AND THE TEMPERAMENT OF A TEN YEAR OLD.

  • SO, WHAT PEOPLE ARE ASKING IS IF WE CAN SLOW THIS AGING PROCESS DOWN--

  • I MEAN, YOU DO THE MATH ON THIS, WHICH I'M SURE IS TOTALLY INCORRECT

  • AND THIS IS OPINION, AND I DON'T THINK IT'S CORRECT--

  • BUT IF HE LIVED IN NORMAL 70 YEAR LIFE-- YOU KNOW, WE ALL LIVE 70 YEARS--

  • I MEAN, COULD HE REALLY EXPECT TO LIVE 280 YEARS,

  • IF HE'S AGING AT 25 PERCENT THE RATE THAT WE ARE?

  • AT 280, WOULD HE BE THE SAME PHYSICAL AGE THAT WE ARE AT 70?

  • I MEAN, YOU CAN'T MAKE THIS STUFF UP.

  • IT'S INCREDIBLE!

  • OKAY, SO GONNA SPEED UP A LITTLE BIT THROUGH THIS NEXT SECTION,

  • BECAUSE I'VE BEEN TALKING TOO LONG, I SEE.

  • BUT, UH, EVOLUTION IN GLOBAL GENOGRAPHIC STRUCTURE--

  • MOVING AWAY FROM GENETIC MEDICINE.

  • OKAY, SO I REALLY LIKE THIS PICTURE HERE,

  • BECAUSE OVER ON THE LEFT SIDE THERE,

  • YOU SEE THAT'S A PICTURE OF CHARLES DARWIN,

  • THE FATHER OF EVOLUTION,

  • AND OVER HERE ON THE RIGHT, AS THE STORY GOES,

  • HE WAS IN THE BAR SOME PLACE IN LONDON WITH ONE OF HIS BUDDIES,

  • AND HE WROTE DOWN HIS THEORY OF EVOLUTION,

  • THROUGH THIS GRAPHIC, IN THE BAR, ON THE BAR NAPKIN.

  • THAT'S HOW I GET MY BEST THINKING DONE.

  • SO WHAT HIS THEORY IS, THOUGH, IS THAT, YOU KNOW, AT SOME POINT,

  • YOU SEE THESE BRANCHINGS, THESE BIFURCATIONS--

  • AT SOME POINT, ONE THING BECOMES TWO--

  • AND SO, YOU KINDA HAVE TO ASK THIS ABOUT HUMANS.

  • SO, THERE'S GREAT VARIATION, EVEN IF YOU LOOK AMONG THIS AUDIENCE.

  • THERE'S GREAT VARIATION IN THE HUMAN BEING,

  • BUT OSTENSIBLY, WE ARE ALL STILL THE SAME SPECIES.

  • NOW, BETWEEN THE TWO MOST DISTANTLY RELATED HUMAN BEINGS ALIVE TODAY,

  • THERE'S STILL ABOUT 99.7 PERCENT SEQUENCE HOMOLOGY--

  • SEQUENCE IDENTITY, MEANING THERE'S ONLY--

  • AND THAT'S BETWEEN THE TWO MOST DISTANT.

  • I MEAN, BETWEEN THE PEOPLE IN THIS ROOM HERE,

  • THERE MAY BE 99.9 PERCENT SEQUENCE IDENTITY.

  • WE'RE SO CLOSELY RELATED TO EACH OTHER, IN TERMS OF OUR GENETIC, IT'S INCREDIBLE.

  • AND YET, IF YOU LOOK AROUND, THERE ARE TALL PEOPLE AND BLOND PEOPLE,

  • AND PEOPLE WITH DARK HAIR, AND MALES AND FEMALES,

  • AND THAT TAKES ALL THAT INTO ACCOUNT.

  • IT'S JUST THESE TINY LITTLE CHANGES THAT PRODUCE THE GREAT VARIATION

  • THAT SPAN THE HUMAN EXPERIENCE.

  • AND SO, I'D LIKE TO THINK OF IT IN TERMS OF ROCK STRATIFICATION.

  • SO, WHAT YOU'RE LOOKING AT RIGHT HERE IS A PICTURE OF SEDIMENTARY ROCK

  • THAT IS LAID DOWN IN LAYERS.

  • IN OTHER WORDS, ONE LAYER IS LAID DOWN-- OF SEDIMENTARY ROCK--

  • AND MORE DEBRIS IS LAID ON TOP OF THAT,

  • AND MORE DEBRIS IS LAID ON TOP OF THAT...

  • SO THAT THE STRATIFICATION OF THE HUMAN POPULATION WORKS

  • MUCH THE SAME WAY, WHICH, HOPEFULLY, I CAN--

  • THERE'S GENETIC STRATIFICATION-- MEDICAL STRATIFICATION.

  • HOPEFULLY, I'LL BE ABLE TO RAPIDLY DISCUSS THIS.

  • SO, THIS IS THE MAP OF THE HUMAN GENOGRAPHY.

  • IN OTHER WORDS, IT'S THE GEOGRAPHY OF THE GENOME.

  • AND THIS PARTICULAR STUDY WAS COMMISSIONED BY THE NATIONAL GEOGRAPHIC SOCIETY,

  • AND MANY OF YOU MAY HAVE HEARD ABOUT THE STUDY.

  • BUT WHAT IT SEEKS TO DO IS TO TAKE SAMPLES OF D.N.A.

  • FROM PEOPLE ALL AROUND THE WORLD AND ANALYZE THEM

  • FOR SPECIFIC MARKERS IN THE D.N.A.,

  • AND KINDA LIKE TRACE THEM BACK THROUGH THEIR EVOLUTIONARY ROUTES.

  • AND, UM, WHAT I FIND INTERESTING ABOUT THIS

  • IS THAT EVERYBODY, ESSENTIALLY--

  • IF YOU-- AND I WOULD CONSIDER THIS TO BE FACT--

  • STARTED OFF IN THE RIFT VALLEY OF AFRICA, RIGHT THERE, THE FIRST ADAM AND EVE.

  • I DON'T KNOW WHY THEY CALL THEM THAT, BUT FIRST HUMANS--

  • PROTO-HUMANS-- IN THE RIFT VALLEY.

  • AND AFRICA REMAINS THE PART OF THE WORLD

  • THAT HAS THE MOST GENETIC VARIATION IN DIVERSITY...

  • BY FAR.

  • BY FAR.

  • SO, IF WE FIGURE THAT A HUMAN IS ROUGHLY 200,000 YEARS OLD--

  • THAT'S HOW OLD OUR SPECIES IS.

  • UM, YOU CAN SEE THAT THERE ARE TWO ROUTES, ESSENTIALLY,

  • WHEREBY HUMANS MIGRATED OUT OF AFRICA INTO WHAT IS NOW--

  • YOU KNOW, THROUGH EGYPT AND SAUDI ARABIA, THAT KIND OF AREA, RIGHT UP THERE.

  • SO, THOSE TWO ROUTES-- THOSE TWO LAND-BRIDGES OUT OF AFRICA--

  • THE STUDIES HAVE BEEN DONE TO SHOW THAT IN EACH ONE OF THOSE TWO BRIDGES,

  • ONLY 1,000 PEOPLE FROM EACH OF THOSE POINTS EXITED OUT OF AFRICA.

  • AND IT IS THOSE TWO SETS OF 1,000 PEOPLE-- IT IS THAT GENETIC SET--

  • THAT LIMITED GENETIC SET--

  • THAT HAS GONE ON TO POPULATE THE REST OF THE PLANET,

  • AND GIVE RISE TO MOST OF US IN THIS ROOM.

  • I FIND THAT TO BE AMAZING.

  • OKAY, SO THIS IS MY OWN GENETIC ATLAS.

  • SO, WHAT YOU'RE LOOKING AT RIGHT HERE IS THE ANALYSIS OF MY GENOME

  • TO SHOW HOW SIMILAR I AM TO INDIVIDUALS IN DIFFERENT PARTS OF THE GLOBE.

  • I AM MOSTLY EUROPEAN-- YOU PROBABLY COULD'VE GUESSED THAT.

  • UH, NEXT, I AM MOST CLOSELY RELATED TO THE ASIANS,

  • AND EAST ASIANS, OCEANIA, WHATEVER.

  • SO, A LITTLE BIT CLOSER LOOK...

  • WHICH I FIND MORE INTERESTING, AND THIS GETS TO THE QUESTION

  • YOU MIGHT WANT TO ASK YOURSELF,

  • AND THAT IS, "HOW WELL DO YOU KNOW YOURSELF?"

  • SO, THE STORY, IN MY FAMILY, IS THAT WE COME FROM CZECHOSLOVAKIA.

  • TURNS OUT, THAT BY MOST CLOSELY RELATED TO THE ICELANDERS.

  • SEE THAT NUMBER ONE UP THERE?

  • ICELANDERS, FOLLOWED VERY CLOSELY BY THE ORKNEYS-- THE ORCADIANS--

  • IN OTHER WORDS, THAT'S A SET OF ISLANDS OFF THE NORTH COAST OF THE UNITED KINGDOM,

  • FOLLOWED BY THE FRENCH, THEN THE TUSCAN, THEN THE ITALIAN.

  • AND WHAT YOU CAN SEE HERE IS WHAT'S CALLED A GENETIC CLINE.

  • IN OTHER WORDS, SIMILARITY DECREASING DOWN THIS PARTICULAR GEOGRAPHIC LINE,

  • THAT SHOWS THE LINE OF MIGRATION OF MY FOREFATHERS.

  • AND SO, JUST TO BRING THIS BACK TO GENOMIC MEDICINE,

  • EACH ONE OF THESE STOPS ALONG THE WAY,

  • THERE ARE A POPULATION OF PEOPLE THAT GET ESTABLISHED IN EACH OF THESE PLACES,

  • AND THEY HAVE THEIR OWN SPECIFIC SET OF GENETIC VARIATION,

  • DUE TO INBREEDING OF THE POPULATION,

  • WHICH GIVES RISE TO VARIOUS KINDS OF SUSCEPTIBILITIES OF DISEASES

  • OR OTHER GENETIC STRENGTHS.

  • OKAY, AND REAL QUICKLY, THIS IS ACTUALLY A MARKER ON MY "Y" CHROMOSOME--

  • I COME FROM THESE PEOPLE THAT FOLLOWED THIS PARTICULAR LINE,

  • UP THROUGH BRITAIN AND INTO ICELAND.

  • SO-- AND THIS INFORMATION'S AVAILABLE FOR ALL OF YOU, AS WELL.

  • YOU CAN ALL DO THE SAME THING.

  • OH, OKAY, SO...

  • PREDICTIVE VALUE OF THE GENOME.

  • I DON'T KNOW WHY THIS SLIDE IS RIGHT HERE, BUT IT IS RIGHT HERE.

  • SO, THIS IS, AGAIN, MY OWN GENOMICS.

  • YOU CAN SEE THAT THERE'S A 68 PERCENT CHANCE THAT I HAVE BLUE EYES,

  • THERE'S A 93 PERCENT CHANCE THAT I HAVE BLACK HAIR,

  • AND THE ABILITY TO PREDICT PIGMENTATION WAS A BIG DEAL

  • WHEN IT CAME OUT A FEW YEARS AGO-- I THINK 2008, 2007?

  • BUT "NATURE GENETICS" IS THE PREMIER MAGAZINE

  • IN THE SCIENTIFIC COMMUNITY FOR GENETICS.

  • NOW, WE CAN TELL, JUST ON YOUR GENETICS, WHAT YOUR PIGMENTATION'S GONNA LOOK LIKE.

  • SO, FOR THOSE OF YOU-- SO, SOMEBODY WAS IN A...

  • FORENSICS?

  • JUDICIARY?

  • ER, LAW ENFORCEMENT?

  • WHO SAID THAT?

  • YEAH, OKAY, SO THIS IS IMPORTANT FOR YOU, BECAUSE YOU GET A SAMPLE,

  • AT THE SCENE OF THE CRIME, AND THERE'S ALREADY A BUNCH OF STUFF, JUST TODAY--

  • THIS IS FACT--

  • THAT YOU CAN TELL ABOUT THE PERSON WHO DEPOSITED THAT SAMPLE YOU TAKE.

  • A SCRAPING OF CELLS FROM A MURDER SCENE OR WHATEVER--

  • NOW, YOU KNOW WAS IT A MALE OR FEMALE, WHAT WAS THEIR COLORATION,

  • WHAT WAS THEIR ANCESTRY,

  • SO YOU MAY HAVE SOME CLUE AS TO WHAT THEY LOOK LIKE.

  • WE CAN MAKE ESTIMATES ABOUT WHAT THEIR BODY MASS INDEX SHOULD BE--

  • ARE THEY GONNA BE FAT OR NOT.

  • AND ALSO, ABOUT THEIR HEIGHT.

  • SO NOW, YOU KNOW WHAT COLOR ARE THEY, WHAT SEX ARE THEY,

  • HOW TALL ARE THEY, WHAT ARE THEY SUPPOSED TO LOOK LIKE?

  • JUST FROM A FEW CELLS.

  • THIS IS FACT, OKAY?

  • THIS IS NOT OPINION-- THIS IS FACT.

  • ALL RIGHT?

  • OKAY, INCIPIENT ROLE OF GENOMICS IN YOUR LIFE.

  • THIS IS THE PART IN THE CONVERSATION

  • WHERE YOU WOULD WANT TO BE ASKING YOURSELF,

  • "DO I WANNA TAKE THE RED PILL OR THE BLUE PILL?"

  • SO, IF YOU DECIDE TO TAKE THE BLUE PILL AND GET UP AND WALK OUT OF HERE RIGHT NOW,

  • THAT'S FINE, I GET THAT, IT'S NO PROBLEM.

  • OKAY, SO WE'RE STILL IN THE REALM OF FACT, RIGHT NOW, BY THE WAY.

  • SO, WE'VE TALKED ABOUT THE ROLE OF GENOMIC MEDICINE IN YOUR LIFE,

  • UM, HOW THIS COULD BE USED TO HELP YOURSELF,

  • UNDERSTANDING OF ETHNICITY, AND THE SCIENCE BEHIND IT.

  • LET'S TALK ABOUT SOME OTHER THINGS.

  • SO, UM...

  • BEAUTIFUL BIO-LUMINESCENT JELLYFISH, RIGHT THERE.

  • A LONG TIME AGO, THEY ISOLATED A PROTEIN,

  • AND SUBSEQUENTLY, THE GENE THAT MAKES THAT JELLYFISH GLOW IN THE DARK.

  • AND VERY CLEVERLY, THEY NAMED IT THE "GREEN FLUORESCENT PROTEIN."

  • IT'S LIKE, "THAT'S ALL THEY COULD COME UP WITH?"

  • SO, THE PROTEIN STRUCTURE FOR THE GREEN FLUORESCENT PROTEIN IS KNOWN.

  • THIS IS THAT PROTEIN STRUCTURE.

  • IT'S VERY FAMOUS.

  • WE USE THE GREEN FLUORESCENT PROTEIN IN MOLECULAR BIOLOGY ALL THE TIME,

  • FOR LABORATORY APPLICATIONS.

  • BUT THERE ARE OTHER APPLICATIONS FOR IT...

  • LIKE ART.

  • SOMEBODY FROM OXFORD, WHO PROBABLY HAD SOMETHING TO DO

  • WITH THE ISOLATION OF THE GREEN FLUORESCENT PROTEIN,

  • MADE THIS SCULPTURE OF THE GREEN FLUORESCENT PROTEIN,

  • WHICH IS NOW ON THEIR CAMPUS, ALL RIGHT, IN OXFORD.

  • BUT THEN, THERE'S THIS GUY, WHO I THINK IS REALLY, REALLY FUNNY...

  • EDUARDO KAC.

  • HE'S FRENCH.

  • EDUARDO IS AN ARTIST, BUT HE'S A SPECIAL KIND OF ARTIST.

  • HE'S A PERFORMANCE ARTIST, ALL RIGHT?

  • SO, EDUARDO...

  • HE WANTED TO HAVE A GOOD TIME AT PARTIES,

  • AND SO, WHAT HE DID WAS HE SAID,

  • "WHAT IF WE TOOK THE GENE FOR GREEN FLUORESCENT PROTEIN

  • "AND WE MADE A TRANSGENIC ANIMAL LIKE, SAY, A DOG"--

  • WELL, HE COULDN'T AFFORD TO MAKE A DOG...

  • BUT HE DID MAKE A BUNNY.

  • THIS IS FACT, OKAY?

  • SO, THIS IS AN ACTUAL PHOTOGRAPH OF THAT BUNNY IN HIS ARMS,

  • ILLUMINATED BY ULTRAVIOLET LIGHT.

  • IT'S FLUORESCENT GREEN--

  • HE MADE A TRANSGENIC ANIMAL, A GREEN FLUORESCENT BUNNY.

  • HA HA.

  • SO, HIS IDEA, OF COURSE, WITH THIS WHOLE THING,

  • WHICH I THINK IS PRETTY FUNNY,

  • IS THAT HE WANTED TO HAVE BIG PARTIES AT HIS HOUSE

  • AND HE WANTED TO HAVE A GREEN FLUORESCENT DOG,

  • SO THAT THE DOG COULD WALK AROUND IN THE ULTRA-VIOLET LIGHT

  • AND INTERACT WITH THE PEOPLE AT THE PARTY...

  • AND BE GREEN.

  • CLEVER.

  • SO...

  • NOT TO BELABOR THIS POINT, BUT ACTUALLY, HE DID A SMART THING, TOO,

  • AND IT'S KIND OF THE HOPE

  • OF TRANSLATIONAL MEDICINE TO BE ABLE TO DO THIS--

  • THIS GENE THERAPY WORK.

  • I MEAN, WHAT IF, INSTEAD OF A GREEN FLUORESCENT PROTEIN,

  • UH, INSULIN.

  • SO, IF YOU HAD GENETIC DEFECT TO MAKE INSULIN,

  • IT MIGHT BE NICE TO KNOCK IN A GOOD COPY OF INSULIN

  • INTO YOUR GENOME, SOMEHOW.

  • SO, INSTEAD OF MAKING A GREEN FLUORESCENT BUNNY,

  • YOU MAKE A PERSON, PERHAPS CURING THEIR DIABETES BY KNOCKING IN A NEW COPY.

  • SO, SCIENTISTS-- AND THIS IS THE NOT-QUITE-FACTUAL-YET PART--

  • PEOPLE HAVE BEEN TRYING TO DO THIS A LOT, ALL OVER THE WORLD.

  • THE RESULTS HAVE NOT BEEN THAT GOOD YET.

  • I MEAN, IT'S A LOT OF PROMISE, BUT HOPEFULLY, THAT WILL HAPPEN.

  • JUST SO WE DON'T GET TOO FAR AWAY FROM THE DOG BIT,

  • IT TURNS OUT THAT THE KOREANS THOUGHT IT WAS SUCH A GOOD IDEA,

  • THAT THEY WENT AHEAD AND MADE A TRANSGENIC DOG

  • WITH A RED FLUORESCENT PROTEIN FROM A SEA ANEMONE.

  • THIS IS RUPPY, THE RED FLUORESCENT PUPPY.

  • YEAH, THAT'S TRUE.

  • THAT'S IN THE FACT DEPARTMENT.

  • SO, IT BEGINS TO BEG THE QUESTION,

  • "IF WE'RE ABLE TO DO THIS WITH COMPLEX ANIMALS LIKE DOGS,

  • "WE COULD CERTAINLY DO THE SAME THING WITH HUMAN."

  • AND WHEN WE THINK BACK TO DARWIN AND EVOLUTION,

  • WHEN ONE THING BECOMES TWO,

  • WHEN WE BEGIN TO INTERACT WITH OUR OWN PLAN

  • AND CHANGE THE COURSE OF OUR OWN DEVELOPMENT AND DIRECTION,

  • YOU KNOW, WHAT ARE WE REALLY DOING THERE?

  • UH, WHAT SORT OF DIRECTED EVOLUTION IS THAT?

  • IS THIS A GOOD IDEA OR NOT?

  • THAT'S A QUESTION.

  • SO, THERE'S BIG MOVEMENT THAT SURROUNDS THIS--

  • IT'S CALLED "TRANSHUMANISM,"

  • AND THERE'S ACTUALLY A "JOURNAL OF TRANSHUMANISM."

  • I'M NOT REALLY INTO IT, BUT IT'S THERE.

  • OKAY, VIDEO CLIP.

  • (music)

  • >> I WAS CONCEIVED IN THE RIVIERA...

  • NOT THE FRENCH RIVIERA, THE DETROIT VARIETY.

  • THEY USED TO SAY THAT A CHILD CONCEIVED IN LOVE

  • HAS A GREATER CHANCE OF HAPPINESS...

  • THEY DON'T SAY THAT ANYMORE.

  • I'LL NEVER UNDERSTAND WHAT POSSESSED MY MOTHER

  • TO PUT HER FAITH IN GOD'S HANDS RATHER THAN THOSE OF HER LOCAL GENETICIST.

  • (baby crying)

  • TEN FINGERS, TEN TOES, THAT'S ALL THAT USED TO MATTER.

  • NOT NOW.

  • NOW, ONLY SECONDS OLD, THE EXACT TIME AND CAUSE OF MY DEATH

  • WAS ALREADY KNOWN.

  • (baby crying)

  • >> NEUROLOGICAL CONDITION, 60 PERCENT PROBABILITY.

  • MANIC DEPRESSION, 42 PERCENT PROBABILITY.

  • ATTENTION DEFICIT DISORDER, 89 PERCENT PROBABILITY.

  • HEART DISORDER...

  • 99 PERCENT PROBABILITY.

  • EARLY FATAL POTENTIAL.

  • LIFE EXPECTANCY, 30.2 YEARS.

  • >> THIRTY YEARS...

  • >> THE NAME FOR THE CERTIFICATE? >> ANTON.

  • >> NO!

  • UM, VINCENT ANTON.

  • YEAH... IT'S A GOOD NAME.

  • >> OKAY, SO THAT...

  • IS A LOT CLOSER THAN YOU MIGHT BELIEVE.

  • LET'S TALK ABOUT HOW CLOSE THAT ACTUALLY IS.

  • ALL RIGHT, SO IN IN VITRO FERTILIZATION--

  • I DON'T KNOW IF ANY OF YOU HAVE GONE THROUGH I.V.F. OR KNOW PEOPLE THAT HAVE--

  • THE PROCESS, BASICALLY, WORKS AS FOLLOWING--

  • YOU TAKE A FEMALE,

  • YOU STIMULATE THE PRODUCTION OF EGGS FROM THE FEMALE,

  • YOU TAKE A MALE, YOU STIMULATE THE PRODUCTION OF SPERM FROM MALE,

  • AND THEN, YOU MIX THE TWO OF THESE THINGS TOGETHER

  • IN A PETRI DISH, AND VOILA!

  • THROUGH MAGIC, YOU GET EMBRYOS THAT BEGIN TO GROW, IN VITRO--

  • IN OTHER WORDS, UNDER GLASS IN A PETRI DISH.

  • BUT HERE'S THE THING, RIGHT?

  • SO, YOU DON'T JUST GET ONE.

  • YOU GET LOTS OF EMBRYOS THAT GROW IN THIS PETRI DISH, RIGHT?

  • SO, THEN YOU'RE FACED WITH-- AND THIS IS ALL SCIENCE FACT.

  • THIS IS ALL-- HAPPENS EVERY DAY, ALL AROUND THE WORLD, RIGHT?

  • SO, THEN YOU'RE FACED WITH THE QUESTION,

  • "OKAY, WHICH ONE OF THESE PARTICULAR EMBRYOS

  • "DO I WANNA TAKE OUT OF THE PETRI DISH AND PUT INTO THE WOMAN,

  • "WHERE THEY ARE SUPPOSED TO GO, IN ORDER TO MAKE A BABY?"

  • SO, RIGHT NOW, THE WAY IT WORKS IS...

  • SOME SMART EMBRYOLOGIST TAKES A LIGHT MICROSCOPE OUT

  • AND HE LOOKS THAT THESE EMBRYOS UNDER A LIGHT MICROSCOPE,

  • ABLE TO TELL ABSOLUTELY NOTHING ABOUT THEM,

  • OTHER THAN WHAT THEY LOOK LIKE--

  • IN OTHER WORDS, HE DOES THINGS LIKE, SAY HOW MANY CELLS

  • ARE IN THIS PARTICULAR EMBRYO THAT'S FORMING.

  • THEY'RE SUPPOSED TO HAVE EIGHT, OKAY?

  • IS THERE EIGHT CELLS?

  • WHAT DO THE CELLS LOOK LIKE?

  • YOU KNOW, GROSS MORPHOLOGICAL PROBLEMS--

  • ARE THERE TEARS IN THE PELLUCIDA?

  • SO, SOME OF THESE ARE NOT GONNA BE VIABLE, RIGHT OFF THE BAT.

  • THEN, YOU'RE LEFT WITH THE PROBLEM OF, "OKAY, WE'VE ELIMINATED SOME,

  • "BUT THERE'S STILL A WHOLE BUNCH OF THESE EMBRYOS

  • "THAT NEED TO GET IMPLANTED,

  • "AND WE DON'T KNOW WHICH ONE'S GONNA WORK."

  • AND SO, TYPICALLY, WHAT HAPPENS IS THEY TAKE A BUNCH OF THESE EMBRYOS--

  • FIVE, TEN, SOME LARGE NUMBER-- AND PLANT THEM IN THE WOMAN,

  • AND THEY SEE WHICH ONE TAKES.

  • AND THEN...

  • THEY DO SELECTIVE ABORTION AFTER-- IF THERE ARE SEVERAL THAT GROW--

  • THEY DO SELECTIVE ABORTION,

  • LEAVING ONE OR TWO TO COME TO TERM AND BE DELIVERED.

  • SO, THIS IS WHERE YOU GET SITUATIONS LIKE THE OCTOMOM,

  • WHO HAD A WHOLE BUNCH OF, YOU KNOW, EMBRYOS IMPLANTED,

  • AND SHE'S LIKE, "I CAN'T DO IT.

  • "I CAN'T GET RID OF THESE BABIES.

  • "THEY'RE MINE-- I DON'T CARE IF THERE'S EIGHT OF THEM.

  • "I JUST CAN'T DO IT."

  • SO, SHE MADE EIGHT BABIES, ALL RIGHT?

  • THAT'S HOW THAT HAPPENS.

  • SO, UM, AND THEN, WITH THE REMAINDER-- WHAT DO YOU DO WITH THOSE?

  • STICK 'EM IN THE FREEZER.

  • IT'S TRUE.

  • MIGHT WANT TO USE 'EM LATER.

  • THIS IS A LIGHT MICROGRAPH OF WHAT THOSE EMBRYOS ACTUALLY LOOK LIKE--

  • THOSE ARE HUMAN EMBRYOS.

  • BUT THERE IS A BETTER WAY--

  • (chuckling) MAYBE--

  • A BETTER WAY TO DO THIS,

  • AND THIS IS TECHNOLOGY THAT I DEVELOPED

  • AND IS NOW IN USE ALL AROUND THE WORLD.

  • YOU TAKE A SINGLE EMBRYO...

  • FROM THAT EMBRYO, YOU DO A MICROSCOPIC BIOPSY

  • AND YOU REMOVE ONE OF THE EIGHT CELLS,

  • LEAVING THE REMAINING SEVEN CELLS TO BE IMPLANTED, TO MAKE A HUMAN.

  • AT THIS STAGE OF DEVELOPMENT, THE CELLS ARE PLURIPOTENT,

  • AND IT'S NO PROBLEM.

  • THEN, YOU CRACK THAT CELL OPEN, YOU TAKE OUT THE D.N.A.,

  • YOU FRAGMENT THE D.N.A., AND YOU DO SOME FANCY TESTING,

  • AND THEN SOME FANCY ANALYSIS, AND FROM DOING ALL THAT,

  • YOU ARE ABLE TO GET THE EXACT KIND OF GENETIC DIAGNOSIS FOR THAT EMBRYO

  • THAT I SHOWED YOU FOR ME.

  • SAME THING CAN BE DONE.

  • SO, IN OTHER WORDS, YOU TAKE EITHER, IN THIS CASE, AN EMBRYO--

  • THAT'S A SCANNING ELECTRON MICROGRAPH FALSE COLOR IMAGE OF A HUMAN EMBRYO--

  • OR, WELL, AN EMBRYO THAT'S ACTUALLY GROWING,

  • AND YOU APPLY GENETICS TOOLS TO IT, TO GET THIS.

  • SO, YOU CAN KNOW A LOT, EVEN BEFORE PREGNANCY OCCURS.

  • THIS IS A PRETTY POWERFUL THING.

  • THIS IS GONNA CHANGE OUR SOCIOLOGY AND HOW WE APPROACH CHILDBIRTH.

  • SO, THIS WHAT'S DOWNSTREAM.

  • THAT WAS ALL FACT, BY THE WAY.

  • >> LIKE MOST OTHER PARENTS OF THEIR DAY,

  • THEY WERE DETERMINED THAT THEIR NEXT CHILD

  • WOULD BE BROUGHT INTO THE WORLD IN WHAT HAS BECOME "THE NATURAL" WAY.

  • >> YOUR EXTRACTED EGGS, MARIE,

  • HAVE BEEN FERTILIZED WITH ANTONIO'S SPERM.

  • AFTER SCREENING, WE ARE LEFT, AS YOU SEE, WITH TWO HEALTHY BOYS

  • AND TWO VERY HEALTHY GIRLS.

  • NATURALLY, NO CRITICAL PREDISPOSITIONS TO ANY OF THE MAJOR INHERITABLE DISEASES.

  • ALL THAT REMAINS IS TO SELECT THE MOST COMPATIBLE CANDIDATE.

  • FIRST, WE MAY AS WELL DECIDE ON GENDER.

  • HAVE YOU GIVEN IT ANY THOUGHT?

  • >> WE WOULD WANT VINCENT TO HAVE A BROTHER.

  • YOU KNOW, TO PLAY WITH.

  • >> OF COURSE YOU WOULD.

  • HELLO, VINCENT. >> HI.

  • >> YOU HAVE SPECIFIED HAZEL EYES, DARK HAIR, AND FAIR SKIN.

  • I'VE TAKEN THE LIBERTY OF ERADICATING ANY POTENTIAL PREJUDICIAL CONDITIONS--

  • UH, PREMATURE BALDNESS, MIOPIA,

  • ALCOHOLISM AND ADDICTIVE SUSCEPTIBILITY,

  • PROPENSITY FOR VIOLENCE,

  • OBESITY, ETCETERA-- >> WE DIDN'T WANT--

  • I MEAN, DISEASES, YES, BUT-- >> RIGHT.

  • WE WERE JUST WONDERING IF IT'S GOOD TO JUST LEAVE A FEW THINGS TO CHANCE.

  • >> YOU WANT TO GIVE YOUR CHILD THE BEST POSSIBLE START.

  • BELIEVE ME, WE HAVE ENOUGH IMPERFECTION BUILT IN ALREADY.

  • YOUR CHILD DOESN'T NEED ANY ADDITIONAL BURDENS.

  • NOW, KEEP IN MIND, THIS CHILD IS STILL YOU...

  • SIMPLY THE BEST OF YOU.

  • YOU COULD CONCEIVE NATURALLY A THOUSAND TIMES

  • AND NEVER GET SUCH A RESULT.

  • (music)

  • >> THAT'S HOW MY BROTHER, ANTON, CAME INTO THE WORLD.

  • A SON MY FATHER CONSIDERED WORTHY OF HIS NAME.

  • (music)

  • >> WHAT DID I TELL YOU?

  • SEE HOW MUCH HE'S GROWN?

  • >> RIGHT, SO THAT'S HEAVY-DUTY.

  • BUT THAT'S WHERE WE'RE HEADED.

  • IT'S CLOSE TO THAT, AND I THINK THAT THIS IS THE KIND OF QUESTION

  • THAT WE NEED TO ADDRESS AS A SOCIETY, "DO WE WANT TO DO THIS?

  • "WHAT ARE THE LIMITATIONS TO THIS?

  • "WHAT'S OKAY?

  • "HOW'S THIS GOING TO BE REGULATED?

  • "WHO IS GONNA REGULATE IT?"

  • THESE ARE ALL VERY, VERY DIFFICULT, PERSONAL QUESTIONS.

  • I MEAN, IS THIS SOMETHING THAT SHOULD HAPPEN ON THE LEVEL OF A RELIGION

  • OR THE GOVERNMENT OR WHATEVER?

  • OR SHOULD IT BE UNREGULATED?

  • BUT I HAVE THIS QUESTION, AND THAT IS, "WHAT'S GONNA HAPPEN ALL THE ARTISTS

  • "WHEN ALL THE PEOPLE WHO ARE CRAZY ARE NOT ALLOWED TO BE, YOU KNOW, BORN?"

  • RIGHT?

  • I MEAN, LET'S THINK ABOUT THIS.

  • SO, HERE'S A GUY-- VINCENT VAN GOGH-- HAD A BAD DAY, ONE DAY.

  • I MEAN, HE JUST HAD A BAD DAY, AND SO, HIS RESPONSE IT WAS,

  • "I'M GONNA CUT MY EAR OFF AND GIVE IT TO A PROSTITUTE,"

  • WHICH HE DID, AND THEN, HE PAINTED THIS PICTURE OF HIMSELF,

  • AND NOW, THIS REMAINS AS AN IMPORTANT PIECE OF ART

  • THAT AFFECTS MILLIONS OF PEOPLE AROUND THE WORLD AND IS A GIFT TO US ALL.

  • WHAT HAPPENS WHEN THERE ARE NO MORE KURT COBAIN,

  • BECAUSE THEY GET ELIMINATED TOO EARLY.

  • THIS IS A QUESTION THAT I DON'T HAVE AN ANSWER TO.

  • WELL, HERE'S ANOTHER QUESTION--

  • WHAT YOU'RE LOOKING AT IS THE COVER SHEET OF A REPORT

  • THAT WAS COMMISSIONED BY THE DEPARTMENT OF DEFENSE,

  • AND IT WAS IN 2010,

  • AND IT IS THE ROLE OF, ESSENTIALLY, GENOMICS IN OUR NATIONAL SECURITY.

  • SO, UH...

  • THIS WAS DELIVERED ON DECEMBER 15th OF 2010-- $100 GENOME.

  • REMEMBER, I WAS TALKING ABOUT WHY THE PRICE IS IMPORTANT?

  • THE PRICE IS IMPORTANT.

  • THE FACT THAT THE COST HAS COME DOWN ALL THESE YEARS,

  • MEANS THAT IT'S GONNA BE AVAILABLE FOR USE, BROADLY, IN THE POPULATION.

  • IT IS UP TO US TO DETERMINE HOW IT GETS USED.

  • SO, THE MILITARY-- THIS IS FROM THE PENTAGON--

  • YOU DON'T GET HIGHER IN THE GOVERNMENT THAN THE PENTAGON--

  • COMMISSIONED THIS REPORT.

  • AND THE GOAL OF THE REPORT, AMONG A LOT OF OTHER THINGS,

  • IS ASSESSMENT OF PERSONNEL.

  • IN OTHER WORDS, ASSESSMENT OF PERSONNEL FOR DUTY.

  • WHO ARE WE GOING TO ALLOW TO DO WHAT IN THIS COUNTRY?

  • HERE'S A QUESTION FOR YOU--

  • ANYBODY KNOW WHAT THE MOST EXPENSIVE DISEASE TO TREAT IS

  • IN THE ENTIRE COUNTRY?

  • ANY GUESS?

  • NO GUESS?

  • NOBODY? >> CANCER?

  • >> THAT IS A GREAT GUESS.

  • I'M GLAD YOU SAID THAT.

  • BUT YOU'RE DEAD WRONG.

  • SO, THE MOST EXPENSIVE DISEASE

  • IS SCHIZOPHRENIA.

  • SCHIZOPHRENIA, IN FACT, COSTS MORE TO TREAT THAN ALL CANCERS COMBINED.

  • WHY?

  • BECAUSE IT DOESN'T KILL YOU.

  • IT REQUIRES MEDICATION, IT REQUIRES SUPERVISION,

  • IT REQUIRES STRUCTURE--

  • THERE IS OFTEN POLICE INVOLVED.

  • THE COST OF THIS IS ACTUALLY ASTRONOMICAL, AND THE MILITARY, AT LEAST--

  • I DON'T KNOW-- I'M NOT A PSYCHIATRIST, I'M NOT A PSYCHOLOGIST--

  • I DON'T KNOW ABOUT SCHIZOPHRENIA, I JUST KNOW ABOUT GENETICS--

  • BUT THE MILITARY, AT LEAST, BELIEVES THAT SCHIZOPHRENIA IS A TWO-PART DEAL.

  • IN OTHER WORDS, ONE PART OF IT IS SOME SORT OF GENETIC SUSCEPTIBILITY

  • AND THE OTHER PART OF IT IS A THRESHOLD EVENT

  • THAT PUSHES YOU OVER FROM SOME SORT OF NORMAL STATE--

  • YOU HAVE A SCHISM, A BREAK FROM REALITY--

  • AND YOU BECOME SCHIZOPHRENIC, AND THAT'S WHAT IT'S LIKE FOR THE REST OF YOUR LIFE.

  • SO, MOST PEOPLE GET SCHIZOPHRENIA WHEN THEY'RE, YOU KNOW, 18, 19, 20, I SUPPOSE.

  • ABOUT THE SAME AGE THAT THEY GO INTO THE MILITARY.

  • SO, THE MILITARY WANTS TO FIND BIOLOGICAL MARKERS

  • THAT WILL TELL THEM WHO IS AT RISK FOR DEVELOPING SCHIZOPHRENIA,

  • AND THEY'RE GONNA KEEP THOSE PEOPLE OUT OF CERTAIN KINDS OF SERVICE,

  • SO THAT THEY DON'T HAVE SOME SORT OF STRESSFUL EVENT,

  • FOR WHICH THE MILITARY WILL BE ON THE HOOK FOR PAYING FOR

  • FOR THE REST OF THEIR LIVES.

  • IT'S VERY EXPENSIVE.

  • THIS IS GONNA HAPPEN IN A LOT OF DIFFERENT WAYS.

  • YOU NEED TO WATCH OUT FOR IT.

  • SO, WHAT IS THIS THING THAT WE'RE TALKING ABOUT HERE?

  • I MEAN, THIS IS ACTUALLY NOT A NEW CONCEPT AT ALL.

  • I MEAN, THIS RESEMBLES EUGENICS, YOU KNOW,

  • AND THAT IS THE SELF-DIRECTION OF HUMAN EVOLUTION.

  • THIS IS A POSTER FROM, LIKE, THE SECOND ANNUAL EUGENICS CONFERENCE,

  • BACK IN 1921.

  • SO, THE EUGENICS MOVEMENT, YOU KNOW, IS, I THINK, FROM THE LATE 1800s--

  • I'M NOT AN EXPERT IN THE EUGENICS MOVEMENT.

  • BUT ESSENTIALLY, WHAT THEY WANT TO DO IS WEED OUT PARTS OF HUMANITY

  • THAT DON'T FIT A CERTAIN CRITERIA.

  • THEY WANT TO GET RID OF HANDICAPS, YOU KNOW, BALD PEOPLE,

  • PEOPLE THAT TALK TOO LONG-- STUFF LIKE THAT.

  • UH, SO, 1921--

  • I'M GONNA-- SHORT ON TIME.

  • SO, IN 1932,

  • BASED ON EUGENICS, GERMANY PASSED THIS LAW

  • FOR THE PREVENTION OF HEREDITARILY DISEASED OFFSPRING.

  • WELL, WHO GETS TO DECIDE WHAT A DISEASE IS?

  • RIGHT?

  • IS DEPRESSION A DISEASE?

  • WELL, HERE'S WHAT THEY SAID-- THEIR GOVERNMENT--

  • THEY SAID "CONGENITAL MENTAL DEFICIENCY."

  • NUMBER ONE, SCHIZOPHRENIA, MANIC-DEPRESSIVE INSANITY, EPILEPSY,

  • YOU KNOW, HUNTINGTON'S CHOREA, BLINDNESS, DEAFNESS, ALL THESE KIND OF THINGS.

  • THEY DIDN'T WANT PEOPLE TO HAVE THIS, AND SO, THEY WERE STERILIZING THEM.

  • AND YOU CAN SEE UP THERE IN THE RED,

  • IT SAYS, YOU KNOW, "FORCED STERILIZATION,"

  • ALL THAT KIND OF THING.

  • AND IF YOU LOOK AT THE POSTER THAT PROMOTES THIS LAW,

  • RIGHT ACROSS THE TOP OF IT-- I CAN'T READ GERMAN, BUT THAT SAYS--

  • "WE DO NOT STAND ALONE."

  • AND IF YOU'LL SEE,

  • OUR FLAG IS RIGHT THERE AMONG THE OTHER FLAGS OF MAJOR NATIONS.

  • WE'RE NO BETTER.

  • BRITAIN, JAPAN, UNITED STATES, NORWAY--

  • MAJOR NATIONS WERE ALL INVOLVED WITH THIS.

  • SO, ONE YEAR LATER,

  • THIS BECAME THE FLAG OF GERMANY, WHO PASSED THAT LAW.

  • I THINK WE CAN ALL AGREE THAT THIS WAS A BAD DEAL.

  • AND IT'S SOMETHING THAT WE NEED TO WATCH OUT FOR.

  • THESE TECHNOLOGIES ARE AMAZING.

  • THEY HAVE THE ABILITY TO TRANSFORM OUR LIVES

  • AND MAKE OUR LIVES MUCH BETTER,

  • BUT THEY MUST BE CAREFULLY WATCHED BY US,

  • AS INDIVIDUAL CITIZENS.

  • OKAY, SO HERE'S A FEW QUESTIONS-- I'M DONE NOW.

  • HERE'S A FEW QUESTIONS THAT I WANTED TO POSE TO ALL OF YOU,

  • JUST FOR YOUR OWN THOUGHT AND, UM...

  • JUST 'CAUSE I THINK THEY'RE GOOD QUESTIONS

  • I DON'T HAVE ANSWERS TO ANY OF THESE QUESTIONS.

  • "SHOULD WE TELL A PERSON HOW THEY'RE LIKELY TO DIE AND WHEN?"

  • THERE ARE ACTUARIALS--

  • IN OTHER WORDS, THE PEOPLE THAT WORK FOR INSURANCE COMPANIES

  • TO TRY TO MAKE SURE THEY DON'T LOSE MONEY,

  • WHO WORK ON THIS KIND OF PROBLEM.

  • YOU KNOW, "WHEN'S A PERSON GONNA DIE?

  • "HOW MUCH CAN WE INSURE THEM FOR?"

  • AND THEY COME UP WITH STATISTICS THAT ARE PRETTY CLOSE.

  • WE SHOULD GET CLOSE ON THIS.

  • SHOULD WE TELL A PERSON WHEN THEIR DADDY AIN'T THEIR DADDY?

  • YOU'D BE SURPRISED AT HOW OFTEN THIS HAPPENS.

  • I WAS INVOLVED WITH A RESEARCH PROJECT ON THE EAST COAST-- 4,000 PEOPLE.

  • WE HAD TO THROW AWAY 19 PERCENT OF THE SAMPLES,

  • BECAUSE THE PERSON IN THE SAMPLE-- THEIR PARENT WASN'T ACTUALLY THEIR PARENT,

  • AND WE COULDN'T USE THEM IN THE STUDY.

  • IT'S SOMETHING LIKE TEN PERCENT OF THE PEOPLE IN THE GENERAL POPULATION

  • IN THE UNITED STATES--

  • THERE'S TEN PERCENT OF US, OUR DADDY'S NOT OUR DADDY.

  • SO, I DON'T KNOW HOW MANY PEOPLE ARE HERE--

  • IF THERE'S 100 PEOPLE HERE, TEN OF US,

  • WE DON'T KNOW THAT OUR DADDY'S NOT OUR DADDY.

  • RIGHT?

  • THAT'S TRUE.

  • AND WHEN WE BEGIN TO IMPLEMENT GENOMIC HEALTH,

  • THIS IS GOING TO COME OUT, BECAUSE WHEN YOU SEQUENCE YOURSELF,

  • YOU'RE ALSO GETTING INFORMATION ABOUT THE PEOPLE AROUND YOU--

  • YOUR BROTHERS, YOUR SISTERS, YOUR PARENTS, YOUR AUNTS, YOUR UNCLES,

  • BECAUSE THE MATERIAL THAT MAKES YOU, MAKES THEM, TOO.

  • AND IT'LL BE VERY OBVIOUS IF YOUR DAD ISN'T YOUR DAD.

  • HOW ARE WE GONNA HANDLE THAT, AS A SOCIETY?

  • WHAT DO WE DO WITH UNUSED EMBRYOS-- THE ONES THAT ARE IN THE FREEZER?

  • WHAT HAPPENS TO THOSE THINGS?

  • AND IF THERE'S A BUNCH OF EMBRYOS IN THE FREEZER,

  • AND MOM AND DAD GET A DIVORCE,

  • WHO GETS THE EMBRYOS?

  • ARE THEY PROPERTY?

  • AND WHAT IS A "NORMAL" GENOME?

  • WHAT'S A "NORMAL" BABY?

  • THESE ARE KIND OF QUESTIONS WE NEED TO ANSWER.

  • AND LASTLY,

  • IS IT WRONG TO KNOWINGLY GIVE BIRTH TO A HANDICAPPED BABY?

  • SO, I WILL LEAVE YOU WITH THIS--

  • AND IT MAY NOT SEEM TOTALLY RELATED,

  • BUT I WILL ASK YOU TO THINK UPON THIS--

  • "ALL TRUTH PASSES THROUGH THREE PHASES.

  • "FIRST, IT IS RIDICULED.

  • "SECOND, IT IS VIOLENTLY OPPOSED.

  • "AND THIRD, IT IS ACCEPTED AS SELF-EVIDENT."

  • NOW, THAT'S SCHOPENHAUER, RIGHT THERE, WHO'S AN OLD PHILOSOPHER,

  • AND HE CAME UP WITH THIS DURING HIS LIFETIME.

  • AND I FIND THIS TO BE TRUE.

  • I FIND THAT WE ARE IN THE MIDDLE OF THIS RIGHT NOW.

  • SO, THAT'S IT.

  • THAT'S WHAT I HAVE TO SAY.

  • THANK YOU VERY MUCH FOR YOUR ATTENTION.

(applause)

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B1 中級

Psychology Lecture Series: The Human Genome

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    Why Why 發佈於 2013 年 03 月 24 日
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