this is no ordinary flash drive from a small company called know me it contains a complete digital record of a person's genetic code all 6 billion letters of it your DNA is what makes you unique it governed how you grew in the womb and how you look today and until now only a few hundred people in the world have had a chance to see their whole genome and try to understand it few could afford the cost $350,000 just 3 years ago but that's changing it's almost amazing to be able to say that each of us
will have the chance to have our complete genome sequenced for less than $1,000 in the next four or 5 years but it's true the result could be a revolution in medicine using genetic information to diagnose and cure disease if you go back and you look at some of the home movies that we took and you see Alexis falling down and you look at her now and you think it's unimaginable that she was actually that same child whole genome sequencing really really saved Alexis's life but it could also lead to wholesale invasions of privacy and an
ethical Quagmire there's a lot of fear about say insurance companies or other professionals being able to access that data and then the company geneticist says he has increased risk for cancer okay just don't interview him he'll never know do you want that because that is a potential reality thousands of years ago the ancient Greeks were given some famous advice know thyself today when those words are a biotech Company motto they present a new kind of challenge just how well do you want to know yourself in the age of personal genomics up next on Nova cracking
your genetic code [Music] major funding for Nova is provided by the following the David H Coke fund for science supporting Nova and promoting public understanding of science hhmi Howard Hughes Medical Institute and the Corporation for Public Broadcasting and by PBS viewers like you thank you major funding for cracking your genetic code is provided by the National Institutes of Health and IH turning Discovery into Health additional funding is provided by ment Bell through the ment and Eugene Bell foundation and the George D Smith fund a few years from now you may boot up your tablet to
find a lifechanging report a report on your own personal genetic code on the thousands of genes that spell out your body's instructions deciphered your genes will reveal your risks for one disease after another those you may get yourself and may pass on to your children how will it feel to have this information you may find out sooner than you think we are entering an era of unprecedented self- knowledge we are really beginning to understand the living processes that constitute ourselves where we can begin to intervene to take control of our own future genomics offers us
the chance to look in the most precise way at what the causes of illness are and how to prevent and treat illnesses with that information and we have that opportunity now in front of us this could be your future a new kind of personalized medicine based on your genetic code one that predicts risks so you can stop diseases before they appear if there's a way of stopping them but what if you can't what if you have a g mutation that says doesn't matter how you live your life doesn't matter what drugs you take you will
get this disease and probably before 50 years old not everybody can handle genetic testing and this information affects the way you live the rest of your life if you are going to get a disease but while some sound notes of caution the science is rushing ahead and is now taking on medical challenges once thought impossible consider Andrew Schmitz a bubbly 5-year-old who has no idea his life hangs in the balance it started with high fevers and joint pains and then July he had his first stroke and then he had two in October and one in
November that required brain surgery and then his last one number five was a week ago Andrew is at the the center of a medical mystery his parents have consulted dozens of Specialists but so far his symptoms defy diagnosis he gets steroids to calm his immune system and has been on and off chemotherapy nothing seems to [Music] work at Children's Hospital in Milwaukee Andrew's pediatrician Dr shidel Vora assesses his condition and the toll being taken by the drugs used to treat him can you look up all the way to the ceiling with your head nice job
it pains you because I've been there with this family from the beginning and I've seen the ups and downs and told them the brutal truth that you know you use all these medications but they also can have their harms as well does the light bother you desperate for a diagnosis Dr Vora has brought in geneticist Howard Jacob don't let me pull right now we don't know what is the cause of his disease it's possible that it's environmental it's possible he had some type of an infection in general though somebody else should have it why doesn't
anybody else have it in the family what about in the community so a more plausible explanation is that it's probably genetic so if it happens to fall into a gene that if Jacob is right there's a chance that Andrew's condition could finally be diagnosed opening up the possibility of a cure so we'll do everything we can to to sort through his genome and and see what we can find in there to fulfill This Promise Jacob will be putting Andrew in a select group those who have had their genomes that is all the genetic material contained
within their cells read out letter by chemical letter 6 billion in all to start the process a nurse draws Andrew's blood the next day it arrives at alumina one of a handful of companies that reads or sequences genomes in the lab the blood is processed to extract its genetic material as proteins and fats are washed away delicate fibers clumped together this is DNA life's Master molecule next the DNA is sheared into fragments making it easier to sequence it is such a complex task that sequencing the first human genome took 13 years years $3 billion and
hundreds of scientists when the first draft was finished in 2000 it was hailed as one of Humanity's great achievements this is all the instructions there are telling you all the tricks cells use to actually go from being a single cell to a whole grownup individual all those recipes are written in exactly the same language a language whose alphabet consists of four chemicals each known by its initial A T C and G strings of these chemical letters spell out some 20,000 genes on 23 pairs of chromosomes genes code for proteins molecules that do most of the
work in our cells and help build parts of our body from muscles to hair and in the world of genes and proteins spelling counts if DNA is copied incorrectly or damaged spelling errors known as variants or mutations crop up now when you change the spelling of a gene sometimes it drastically changes the way that a protein functions and those are the kinds of changes in the genome that we really look to when we're trying to trace disease we're trying to figure out what spelling variant in the genome explains for example why this child is sick
can you can you take this down and that's what Howard Jacob will search for convinced that a misspelled Gene underlies Andrew's condition he will comb through the boy's genome to find it individual but even if he does it's still a gamble the chances are pretty high that we're going to find something that there's nothing we can do about it and that's where I think a lot of times people worry about well if you can't change it why do it and we believe that providing an answer to the family does have Merit to the family even
if we can't help his outcome come and so here we've decided that it's better to go look and potentially fail by looking than to not have looked and missed an opportunity to [Music] succeed as advances in technology drive down the cost of DNA sequencing it's becoming accessible not just to the sick but the curious and a handful of companies have Arisen to meet the demand they don't offer whole genome sequencing yet more of an economy class genome scan one of the best known is the Silicon Valley startup 23 and me co-founded by an wuis from
day one when we started this company our goal has always been how do we make genetics accessible and we started off with the genotyping technology because it's a fabulously robust technology it's incredibly reliable and most importantly it's inexpensive human genomes are 99.9% identical but by analyzing the DNA in your saliva 23 in me will show you a million sites in your genes where the spelling sometimes differs between people these one-letter variants may predispose you to certain traits and diseases a million letters may sound impressive but that's far less than 1% of your DNA genotyping is
not DNA sequencing genotyping is identical to looking at a 100 words in a 600 page novel and believing you know everything about tolto genotyping can explain odd traits such as why some people find Brussels sprout bitter but when Jay adelon wanted to know his chances of getting the brain disorder known as Parkinson's disease he found the results far less clear there's something called an odds calculator and that odds calculator says I have roughly a 60% chance of Contracting Parkinson's disease and my father has it but his parents and his grandparents no one had Parkinson's disease
so while it's a genetic trait that passes down it doesn't necessarily mean that I'm going to contract it and so I spent a lot of time trying to understand what it meant almost all the evidence we're going to get will be not hard determining facts about our futures but it'll be probabilistic information it'll tilt the odds a little bit one way or another and we're not very well prepared as a society to sort of negotiate those risk elements and some people will over interpret those risks and they will rush out and try to get diagnostic
tests or they'll try to get surveillance tests to try to help them interpret what this information means and what it doesn't mean given such concerns critics argue that genetic information should only come from a medical professional andu jisy disagrees I would as of today we're the only company that allows you to go direct to the website and not require to go through a physician and again I I think this is really core to our belief that this is your genetic information is something that's fundamentally about you and that you should have the right to get
access to that information even the head of the National Institutes of Health Francis Collins decided to take the genomic plunge he submitted his DNA to three genotyping companies including 23 and me I was a little on the cynical side about yeah yeah yeah these are early days and how do I know they even got the results right but opening up that website and beginning to look down the list of things where I turned out to be at higher than average risk got my attention all three companies agreed Collins was at a substantially increased risk for
getting type 2 diabetes and that got me motivated I am 27 lbs lighter today than I was uh two years ago and I'm working out three times a week at the chance to have have a little bit of a prediction about your future as imperfect as it is right now and it's very imperfect could still be a teachable moment but some of the results were contradictory prostate cancer was the most glaring example one company said higher than average risk one said about average the other said lower than average risk so what's going on according to
neurogeneticist Rudy tany companies often look at different parts of genes and make predictions based on incomplete data these two these two are that one even when we have that full set of genes where these variants increase your risk and these variants protect you knowing how they work together or independently to come up with a real number good luck and remember most of those variants are going to work together with your lifestyle they're not guaranteeing anything it depends on how you eat do you exercise I always think about is it possible that the person who told
they're not at high risk will do less and maybe be harmed oh I don't have a cardiac problem genetically now I'm going to go out and eat rich foods night and day and so on so there all sorts of decisions that result from that information is always hard to handle one example is a piece of genetic information so potentially disturbing that even a founder of modern Gene science refused to take a chance on running into it James Watson the man who co-discovered the double helix of DNA one of the very first people in the world
to have his genome completely sequenced he said to the scientists who are doing the sequencing there's one gene I don't wish to know anything about known as apoe4 on chromosome 19 it has been associated with late onset Alzheimer's the leading cause of Dementia in the elderly the variant increases one's risk three to tfold but what does that mean what does it mean to say you have a 10-fold increased risk over someone who doesn't have it can you then convert that into an absolute lifetime risk type of number to say here's your percent chance of getting
the disease no because you need to know what other genes work with apoe you need to understand how lifestyle is working together with April we in fact many people with ap oe4 never get Alzheimer's While others with the disease don't have the variant I think the real key here is to disabuse people of the misunderstanding that genetics is wholly deterministic in a few rare instances there is a tight linkage between a particular mutation and a disease but the vast majority of genetic information is largely probabilistic yet some genes speak louder than others although we get
two copies of most genes one from each parent certain dominant genes confer a trait of their own and certain dominant disease jeans although rare will eventually make you sick as a volunteer for the Huntington's disease Society Katie Moser works with people in this rare category among them Megan Sullivan good job four years ago Megan was a high school student with everything to look forward to but with college came a set of heartbreaking symptoms oh my God my [Music] S I had no idea why I'm since fth grade I made the AR every single time the
reason for Megan's plummeting grades sudden movements and stumbling speech is a snippet of genetic code that repeats many times instead of a few causing Huntington's disease the mutation creates an elongated protein in the brain which is as toxic to Megan as it was to Katie's grandfather who also had Huntington and if he passed this Gene to Katie's mother Katie had a 50% % chance of carrying it herself for years she wondered if she should get tested in the case of a g mutation that guarantees the disease that's a real tough decision because there there's no
hope if you get the wrong answer it's somewhat of a death sentence I decided to get tested for the Jee because I wanted to be able to plan my life um financially physically emotionally and I wanted to know if someday I would start showing symptoms but my family did not want to know tests confirmed that Katie will eventually get Huntington's disease but knowing has had repercussions dates who disappear relatives who won't speak to her since they must now confront their own genetic status the burden of knowing is what journalist Katherine Elton calls it for this
age of personalized genetic testing it's not personal people exist in families and by the nature of the fact that you have tested you are revealing this information to people who may not want to know Elton herself was offered a test for mutations in the brca1 gene linked with a high chance of getting breast or ovarian cancer her mother her grandmother and her aunt had their lives cut short by these diseases if Elton had the mutation she could minimize her risks by having her breasts and ovaries removed if she wanted children she would have to have
them before surgery I didn't want those results I didn't want to have that in the back of my mind and maybe make me settle for the wrong guy and rush into having kids before I was ready I mean I think there is a real fine line between avoiding death and ruining her life but Elton too has paid for her decision in 2008 while pregnant with her second child she was diagnosed with breast cancer yet despite the ordeal of surgery and chemotherapy and and the risk the cancer might come back she's convinced she did the right
thing by not getting tested in her 20s if I had made those decisions at 27 I can't even believe what I would have missed out on and as the technology it becomes more accessible people just think well this is what you do but I happen to believe that some of the costs of knowing our genetic Destiny can outweigh some of the benefits while Katherine Elton sees genetic information as potentially damaging others see her disease-causing variant brca1 as one of the first you can do something about a so-called actionable Gene these are genes where if you
know the patient has a variant in that Gene you can actually counsel them on things that will improve their Wellness one of these variants causes deadly blood clots but needed if you avoid long periods of immobility or take blood thinners another variant tells us we could fall victim Even in our teens to a heart attack as a healthy adult if you learned about one of those variants and found out you carried it how would that change your life well you might actually invest in defibrillator machines for your home or your workplace you might change your
vacation plans in terms of whether you want to do really strenuous sports activities or shock Yourself by jumping into cold water so far scientists have found about 200 actionable genes including one that boosts your chance of colon cancer by age 45 so what can you do about that well if you start colonoscopies at 25 or so you can actually keep people free of the disease if you look at a personalized medicine approach the Mantra is early prediction early detection you want to know presymptomatically if you're in trouble so that you can start treatment to nip
the disease in the bud stage prevent it before it strikes and if you do get sick and your doctor has to make a decision about how to treat you there are going to be signals in your instruction book to say not that drug use this one instead of course personalized medicine only works if we know the gene variant responsible for a condition back at Milwaukee's Children's Hospital the search for the genetic cause of Andrew's illness is beginning his decoded genome has arrived from Illumina sequencing took 45 days and cost $7,500 the next challenge and the
major expense is figuring out what it all means to find Andrew variant Jacob's team will compare his genome with thousands of others but mainly with the reference genome sequenced by the Human Genome Project so this here is the reference sequence the computer is the first pass it basically goes through and asks a question at each point across Andrew's DNA are you the same or different from the reference and when we see a difference we then ask a question is that difference meaningful meaningful in that the variant must be unique to Andrew and a possible cause
of disease but as the list of suspects shrinks from 3 million to a few thousand success proves elusive meanwhile Paula and Mike Schmidts keep Andrew's life as normal as possible we had hoped that he would progress a little better with his rehab with his walking and you know it's it's hard to live every day with the anxiety of not knowing what's next you know and with Andrew there's always something next but there is hope one source of this hope is another Wisconsin boy from Age 2 Nicholas vulker struggled with a condition that ate holes in
his intestines when treatment after treatment failed Nick's doctors turned to Howard Jacob and Gene testing that's for your birthday shall we open it yes now nearly 2 years later Nick is paying Jacob a visit ask the question how many phds does it take to assemble Green Lantern Nick is the model for the success of this approach his illness was traced to a gene on chromosome X called xiap P linked with immune disorders a single letter was out of place a g that had mutated into an a I want to do the tank you want to
do the tank yeah yeah I was afraid you're going to say that we found one single letter change in this Gene xiap which now was unique nobody else has the same variation that nickas and that's meaningful because that means that letter is so important anybody who would have had this particular variation would die he F this single variant caused Nick's symptoms but a transplant giving him a donor's immune system without the misspelling appears to have saved him what is the green land in Boston genomics is also being used in the battle against betterk known conditions
like cystic fibrosis or CF Michael mccarrick age 29 knows its ravages firsthand how I experienced my decline has been sort of you know in the beginning of my life I play a lot Sports and I had fun playing a lot of sports and then suddenly I couldn't run but I could walk long distances and now it's like walking itself is difficult like many CF patients his age Michael is facing endstage lung disease where Michael is right now and what he's dealing with is the torture we don't like to watch our patients go through the struggle
for that next breath Michael may need a lung transplant but Dr uler hopes a new gene-based drug will save him instead called Kido it targets a mutation found in 4% of CF patients every drug can have a side effect but I'm hoping this one is free and clear because is who needs an extra problem so hopefully it's a Magic Bullet the development of a drug for Cystic Fibrosis is especially gratifying to Francis Collins decades ago Collins and a team of scientists using rudimentary technology set out to find the genetic defect behind the disease back in
the 1980s this was like looking for a needle in the hay stack in the dark with thick gloves on and one day in the spring of 1989 the data came across showing that individuals with cystic fibrosis were missing just three letters of that code just three letters that is from each copy of a gene called CFT on chromosome 7 because the mutation is recessive only those who in inherit a copy from both parents get the disease while we now know 1,800 different mutations in this Gene can cause CF colins team found the main one truly
his needle in the hay stack when this was announced in August of 1989 the excitement was palpable and I think many of us thought maybe this is the launch of a therapeutic effort that could happen pretty quickly in reality a clinical breakthrough would take another 20 years of research and hundreds of millions of dollars some of the most successful work has been done at vertex Pharmaceuticals in San Diego where scientists are trying to fix the defective protein made by the CF Gene the normal protein creates an opening for salts to move across cell membranes keeping
them moist enough for tiny hairs called cyia to beat and remove mucus in CF the cyia is not able to clear out the bacteria and the mucus and this leads to The Chronic cycle of infection so the first challenge was to be able to find molecules that help the protein work better drawing on a vast chemical Library the research team employed a small army of robots to test 600,000 compounds on cells taken from CF patients today date two drugs have shown the most promise one of them Kido when tested on CF cells it helped the
protein function allowing salts and fluids to flow across membranes then gur could watch the result Celia beating clearing away mucus while untreated cells languished it was an exciting moment where we really felt we were on the right track designing drugs to fix a specific problem in a protein caused by mutation whether Kido will work for Michael mccarrick whose lungs are severely damaged remains unclear but younger patients like Paul Glenn are seeing a world of difference it's a lot easier cuz I'm not like coughing I can breathe easily and then my weight it's been going up
since taking the drug Paul has gained 12 lbs enough to make the local football team for him the hope is that CF will become a manageable disease and regular hospital visits a thing of the past which may even make the drug cost effective despite its price tag as much as $294,000 a [Music] year in Boston meanwhile at Massachusetts General Hospital doctors are using new gene-based drugs to Target the most common disease of the genome [Music] cancer Tom garpestad is a 50-year-old building contractor he was stunned to learn he had the skin cancer called melanoma melanoma
is the cancer that doesn't act like cancer I had no symptoms no weight loss no night sweats I felt perfectly fine up until the point that my neck started bothering me that was the only time I had any symptoms scans revealed the cancer had spread from his skin to his neck lungs and liver patients who have melanoma that has spread to other parts of the body from the primary skin site have from the time of initial diagnosis typically a year or less Tom had already had metastatic melanoma for sufficiently long that as he walked in
the door to our Clinic he was down to a month or two I talked to my brother who's a doctor and he started telling me how severe melanoma is you know the average life expectancy of somebody with metastatic melanoma is 9 months you know research Labs weren't even working on it that hard because it seemed to be completely intractable nothing would ever work and this all changed almost overnight with the sequencing of the Millum genome the idea of sequencing a cancer it's as big as the human genome each cancer cell has an entire Human Genome
in it just mutated in various ways and genomics told us there was a mutation in many melanomas in a specific Gene that goes by the funny name BFF and it led to the idea that if you could inhibit this BFF you might be able to stop the melanomas luckily for Tom Gene sequencing Rev he had the BFF mutation he could now join a clinical trial of a new drug designed to neutralize its effects that period of time the cancer was getting very aggressive and then they started me on the B medicine and within a week
I could feel the tumors shrinking the bft mutation results in a defective protein that signals cells to divide uncontrollably the drug binds to this protein stopping both the signal and the cancer unlike chemotherapy drugs this one kills only cancer cells nothing [Music] else pet scans of patients reveal tumors that once riddled bodies shrinking or Vanishing within weeks we had a situation in a disease that was never responsive to therapy 90 plus% of the time to have that turn around and and have it be 90 plus% of the time that the treatment worked that's when we
knew we had completely crossed into Uncharted Territory only 2 months after lying near death in the hospital Tom was back to his old life I think that's too skimpy for the just you got to you're going to hand them right down people close to me seeing me back on the job just getting out there and doing things again it was amazing and I was always you know thinking hey how sick was I 2 months ago you know look at me now but that doesn't mean the war is over to Keith Flare's dismay scans show melanoma
returning in many patients cancer cells like viruses and bacteria can evolve to resist drugs even those that Target genes but now the ability to compare cancer genomes before and after treatment is allowing scientists to see how resistance develops the goal is to use the cancer genome itself to tell us how to defeat cancer tell us what's wrong in a Cancer and where we should hit it tell us how it's becoming resistant and how we can block it with resistance new mutations arise in melanoma tumors and once again defective proteins ignite the cancer so now Tom
is taking a second drug which targets a mutation linked to these [Music] relapses 8 months after starting his treatment he awaits the results of a new set of scans the scans do show some regrowth but only in a limited area in all the other areas where we've seen signs before things look great afterwards Tom takes in the [Music] news I probably wouldn't be alive right now you know so I mean I'll take I I'll take the 8 months you know I mean it's still a miracle drug I think at present patients like Tom are getting
between 2 and 18 exra months of quality life from the new treatment but genomics is also helping those for whom there are no targeted drugs thousands of breast cancer patients are taking a gene test which tells them how aggressive their cancer is and whether they need chemotherapy or can safely skip it you're way down here and that says no role for chemotherapy oh that's wonderful the hope is by studying cancer genes we'll come up with a cocktail of drugs like those used to treat tuberculosis or HIV to cure cancers or keep them in check the
big difference though is that now really for the first time we can think about the right combinations of drugs based on the genome based on the science of what's going on inside the cancer cell this is not the project for my life this is a project for my kids this is a project ultimately for their kids but if in the course of this Century we have a complete road map of what a cancer knows how to do that will be a mindboggling advance in [Music] medicine another extraordinary Advance would be to eliminate inherited diseases before
birth we're already taking the first steps by fertilizing an egg and producing an eight cell embryo you can pluck off one of those cells and analyze its genes then you can screen that embryo for a host of diseases using a technique called pre-implantation genetic diagnosis or pgd when we first started performing this technology I think our biggest worry was aren't we going to create some kind of a of a birth defect that uh is maybe even worse than the disease we're trying to avoid and what we learned was that the embryo doesn't seem to mind
at the Genesis genetics Institute Mark Hughes and his team are using pgd to test embryos for mutations that can give rise to over 300 diseases including Huntington and cystic fibrosis only embryos free of certain mutations are implanted in the mother this is the mutant Gene yes with this cluster of paks and we have the normal Gene over here highlight in pink 10 T of thousands of healthy babies have been born to couples who otherwise would have been afraid to have a child because the disease that they were at risk of giving their child was so
severe pgd can also be used to test for traits like gender leading ethicists to ask if designer babies are in our future I think we are going to see people using genetics to select traits some of it is going to be relatively benign I want child with this hair color or eye color as to where our ability to really intervene in our own living processes is really going to lead us we simply do not know and that is the promise and that is the threat of this period some fear pgd could even lead to a
new kind of eugenics and the sort of genetic Elite depicted in the movie gataka your extracted eggs are 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 I have taken the liberty of eradicating any potentially prejudicial conditions uh premature baldness myopia alcoholism and addictive susceptibility uh propensity for violence obesity fortunately the traits a genetic Elite would want intelligence physical ability even height are so complex scientists assure us we won't be selecting them in embryos anytime soon trying to predict height well
we already know there's at least 180 genes involved in height and each contributes a little bit it isn't going to be easy to go take some embryo and sort out which of these 180 are in which of these forms there's just no particularly good way to do that you really really really want to have a tall person go marry a tall spouse it's just more [Music] efficient even so GAA raises real concerns one of the negative implications of this new genetic knowledge is that we're going to start thinking of ourselves more in genetic terms than
we ever have before do I want to date that individual what's her genetics what's his genetics there's always been a tendency to engage in deterministic genetics and I think scientists and medical people and Educators must make very clear the limits of that point of view we are deeply affected by the kind of food we eat the kind of air we breathe by the kind of good luck or bad luck that shapes Our Lives opportunities like education and money and by the real romance of Simply falling in love with an unlikely partner we narrow our vision
if we focus or fetishize upon genetics [Music] but as the cost of a sequence genome Falls new generations may not get far into the world without [Music] one and I Envision a day when every child is born they prick that child's heel and that DNA from that child is decoded right at Birth for 14-year-old twins Noah and Alexis beeri sequencing it birth could have made a world of difference today it's hard to imagine that just two years ago Alexis was fighting for her life the only really vivid memory that I have of that is just
seeing red blue and white lights just flashing everywhere that's definitely one of my like number one kind of like nightmares I still have after Alexis and Noah were born they didn't reach any of their Milestones they didn't crawl on time they didn't walk on time and we knew pretty early that something wasn't right the Twins were diagnosed with cerebral paly then at age five Alexis got [Music] worse she started losing more and more ability to walk during the day um she started losing ability to sit up by 10:30 11:00 in the morning she could no
longer swallow by that time and so that's not indicative of cerebal pulsy Rea began doing research one day she came across a rare condition that mimics cerebral paly a condition that could be treated with the brain chemical dopamine dopamine is crucial to our body's ability to move and the morning after Alexis took it she woke up to to a new world she was walking she was talking she was using her arms she was whistling Noah also responded yet the twins still had health issues especially Alexis we actually almost lost her on a couple of occasions
we had paramedics coming into our house trying to get her breathing and we were back into that world of unknowns until that is Joe turned to his employer a biotech company for help getting the twins genome sequence we discovered through sequencing but there was a second problem associated with the rare mutation that they had there's thousands of the mutation was suppressing yet another brain chemical another drug solved that problem too whole genome sequencing really saved no one Alexis's life had that happened at Birth we would have have 15 years less pain and suffering and probably
millions of dollars of cost yet sequencing at Birth may have its downside one of my concerns is the testing of children raises many questions including stigmatization oh I'm not going to let Mary play soccer because she's got this cardiac risk so we do have a problem of invasion of the child's privacy and what about your privacy what if a company asks to use your DNA for research promising you'll remain anonymous now the question is whether or not that anonymized information is truly anonymized just because they take your name and your Social Security number off at
some point in the future it may be that you don't need a social security number that you don't need to give your name because your genetic information will reveal you so so precisely that we'll have to develop a whole new definition of what we mean by anonymity and what if your DNA reveals you're at increased risk for an incurable disease say Alzheimer's kind of company that sells long-term care insurance ask you about that and can they use that result to either affect your premiums or even deny your insurance entirely because you're such a Bad Bet
in fact in Most states the law already allows long-term care disability and life insurers to discriminate based on genetics I would not make one single base of my DNA sequence available publicly in a million years there's too much risk you don't know what's going to happen in the future with insurance and think about your company going down to tubes and now you have to get a new job and yeah employeers can't discriminate but they happen to find out on your Facebook page under DNA click there's the secret everywhere you go you leave a trail of
genetic debris when you cut your hair enjoy a meal at a restaurant a crime that once seemed like science fiction has become possible with cheap fast DNA sequencing it's been called genomic hacking that will be frightful it will be used to impune people somebody saying he should not or she should not be a candidate for the presidency because she has the gene for depression if somebody wants access to your genome for personal romantic purposes for economic reasons for political reasons in the future if they want it they'll go after it yet when illness strikes privacy
may seem a distant concern and genomics your best hope [Music] okay in Milwaukee after months of searching through Andrew's genome finally there's a discovery the this is a list of genes that we pulled out so yesterday at noon I got an email from Liz saying I found a very interesting Gene he's got two protein cing geneticist Elizabeth worthy has found something unusual in Andrew's genome says mutations in this gen have been linked there's two two rare variants one that's never been seen before and one that's only been seen once as far as we know the
next question then is does this Gene look like it could explain part of Andrew's clinical features and in this case the answer is yes says mutations in this Gene have been linked with susceptibility to recurrent viral infections which he had I will tell you that this is where we get both excited as scientist and nervous than a scientist because you think you found it there's a big difference between thinking you found it to we've proved it in fact the suspect Gene is soon ruled out and the family learns the search must continue that we are
actually going to get so don't worry uh until we tell you that we've stopped looking we haven't stop looking yeah oh we really appreciate it I know you do to field this new success and failure continually intermix in Michael mccarrick's case the drug targeting his cystic fibrosis mutation helped but his lungs were already so damaged he died waiting for a transplant yet Paul Glenn who used to spend part of every fall in the hospital is healthier than [Music] ever Tom garad is in a kind of Limbo with some tumors shrinking others growing yeah a little
at my right ankle as for the beer twins their only regret is not getting sequenced sooner my see is coming we have focused so much of our energies on treating people with disease often Advanced disease and much less effort on trying to prevent that disease in the first place if we're going to shift towards prevention your genome sequence may be one of the most critical tools you you could imagine how can we balance the risks and benefits of this critical tool this will soon be a question for all of us as we confront the ancient
challenge know thyself in the genome age [Music] the exploration continues on Nova's website do you want to know your chances of developing Alzheimer's disease or breast cancer what about selecting your future Offspring based on genetic risk decide for yourself and see what others would choose it's more complicated than you might think find out why in a Nova interactive you can also watch short form videos and hear from experts follow Nova on Facebook and Twitter find us at pbs.org NOA major funding for Nova is provided by the David H Coke fund for science supporting Nova and
promoting public understanding of science hhmi Howard Hughes Medical Institute and the Corporation for Public Broadcasting and by PBS viewers like you thank you major funding for cracking your genetic code is provided by the National Institutes of Health and IH turning Discovery into Health additional funding is provided by Millis Bell through the Millis and Eugene Bell foundation and the George D Smith fund [Music] [Applause] [Music]
