Speaker 1: We're here to celebrate the completion of the first survey
Speaker 1: of the entire human genome. Without a doubt, this is
Speaker 1: the most important, most wondrous map ever produced by human kind.
Speaker 1: The moment we are here to witness was brought about
Speaker 1: brilliant and painstaking work of scientists all over the world,
Speaker 1: including It was June two thousand. President Bill Clinton was
Speaker 1: in the crowded White House East Room announcing a momentous achievement.
Speaker 1: Government scientist had decoded nearly all three billion letters of
Speaker 1: the human genetic blueprint. The excitement and the hype was intense.
Speaker 1: President Clinton painted a tantalizing picture of the opening of
Speaker 1: a new scientific frontier. With this profound new knowledge, human
Speaker 1: kind is on the verge of gaining immense new power
Speaker 1: to heal. Genome science will have a real impact on
Speaker 1: all our lives, and even more on the lives of
Speaker 1: our children. It will revolutionize the diagnosis, prevention, and treatment
Speaker 1: of most, if not all, human diseases. In coming years,
Speaker 1: doctors increasingly will be able to cure diseases like Alzheimer's, Parkinson's, diabetes,
Speaker 1: and cancer by attacking their genetic roots. It didn't work
Speaker 1: out that way at least not exactly. Welcome to Prognosis.
Speaker 1: I'm your host, Michelle fay Cortes. This week, we're going
Speaker 1: to tell you what happened after the press conference and
Speaker 1: how one of the greatest undertakings in medical history, the
Speaker 1: decoding of the human genome, was just the start of
Speaker 1: an exhilarating, frustrating journey that's still far from over. Here's
Speaker 1: Bloomberg's Bob Langrath with the story. Sitting next to Clinton
Speaker 1: at the White House was Francis Collins. Cons is a geneticist,
Speaker 1: and he led the international team that worked on the
Speaker 1: genome project. Now he runs the National Institutes of Health.
Speaker 1: I was both excited about the way in which the
Speaker 1: world was going to find out that we had a
Speaker 1: draft of the human genome sequence, the instruction book for
Speaker 1: human biology. But I had also just spoken at the
Speaker 1: funeral of my sister in law two days before, who
Speaker 1: died from cancer and for whom this particular advance hadn't
Speaker 1: come along soon enough. So I sort of put the
Speaker 1: whole thing into focus of what we had and how
Speaker 1: far we still needed to go for this to actually
Speaker 1: benefit people who are waiting for answers. Actually the genome
Speaker 1: wasn't done. There was only a first draft. The unveiling
Speaker 1: was pushed out quickly, in part because the government was
Speaker 1: raising a private group at the press conference, the teams
Speaker 1: that only fully scanned about the genome. It would be
Speaker 1: three years before the final version was published, and even
Speaker 1: with the map, finding the causes of diseases in the
Speaker 1: genetic code was elusive. Instead of a few key genes
Speaker 1: driving common ailments like heart disease or diabetes, scientists found dozens,
Speaker 1: if not hundreds. Human common disease is really complicated, more
Speaker 1: complicated than we thought it was going to be less
Speaker 1: than a decade ago. Despite the flood of new genome data,
Speaker 1: there was a sense that drugs were getting harder to discover.
Speaker 1: A two thousand and ten New York Times article called
Speaker 1: the goal of finding the genetic roots of disease elusive.
Speaker 1: It said that, quote geneticists are almost back to square
Speaker 1: one and knowing where to look for the roots of
Speaker 1: common disease unquote, but behind the scenes, something important was happening.
Speaker 1: It took thirteen years and costs three billion dollars to
Speaker 1: decode the first genome, and fo million dollars of that
Speaker 1: went just to the sequencing itself. According to Dr Collins,
Speaker 1: the sequencing machines that did most of the work for
Speaker 1: sequencing that first human genome or the size of phone booths,
Speaker 1: and it took a warehouse full of them to have
Speaker 1: the kind of throughtput you needed to achieve this. DNA
Speaker 1: sequencing needed to get faster, cheaper, and smaller. It needed
Speaker 1: a revolution. If you look over the history of science,
Speaker 1: the thing that has been profoundly game changing in a
Speaker 1: scientific area is major technical innovations. You know, whether it
Speaker 1: was inventing the telescope, what it did to astronomy, inventing
Speaker 1: a microscope, what it did for microbiology and cell biology,
Speaker 1: and look at that first cat scan, what it did
Speaker 1: for radiology. That's Eric Greene, who is now director of
Speaker 1: the National Human Genome Research Institute. He was an early
Speaker 1: genome research or at the ni H. I think we
Speaker 1: recognize that the technologies that were used for sequence in
Speaker 1: that first human genome were good enough, but we needed
Speaker 1: something far better. The trick was to take billions of
Speaker 1: letters in a person's DNA and process them all at
Speaker 1: the same time, like a computer circuit with billions of
Speaker 1: transistors all firing at once. As newer and faster machines
Speaker 1: were introduced, costs sank rapidly. In two thousand and five,
Speaker 1: the cost of scanning a human genome ran to about
Speaker 1: ten million dollars. By two fifteen, raw scanning costs plummeted
Speaker 1: to below dollars. And in two thousand three, did I
Speaker 1: believe it was going to happen this quickly? Absolutely not.
Speaker 1: I'm sure any of us would have gotten it wrong,
Speaker 1: probably by toothfold. We probably would have said it would
Speaker 1: have taken, you know, thirty years to get down to
Speaker 1: a thousand dollar human genome sequence. Room fulls of machines
Speaker 1: were no longer needed. Dr Collins says, now on the
Speaker 1: sequencing machines sit on the desktop, or in the most
Speaker 1: dramatic example, they're about the size of a cell phone
Speaker 1: that attaches directly to your laptop. That's when DNA sequencing
Speaker 1: went from being a research tool and became medicine. In
Speaker 1: two thousand and nine, doctors in Wisconsin were treating four
Speaker 1: year old Nicholas Voker for a mysterious disease that produced
Speaker 1: holes and his intestine. In desperation, his doctor's convinced genesis
Speaker 1: at the Medical College of Wisconsin to sequence all his genes.
Speaker 1: Here's next doctor reaching out to the geneticist with an
Speaker 1: unprecedented request. Dear Howard, I hope you are well. I'm
Speaker 1: writing to get your thoughts on a patient of mine
Speaker 1: that might benefit from a high throughput sequencing of his genome.
Speaker 1: This is a unique situation. This patients is very ill
Speaker 1: and has been in the hospital since January. It worked.
Speaker 1: They found an unexpected mutation and it pointed to a treatment,
Speaker 1: a bone marrow transplant. The case exploded into the headlines
Speaker 1: with the Milwaukee, Wisconsin Journal Sentinel wrote a Pulitzer Prize
Speaker 1: winning series about the success. Around the same time, researcher
Speaker 1: Stephen Kingsmore helped perform a highly detailed genome of a
Speaker 1: Korean person. The medical potential was becoming clearer. We kind
Speaker 1: of as a team had a Eureka moment when we said,
Speaker 1: ah ha, there's a huge amount of information in here
Speaker 1: that's of practical usefulness to people, and this really changed
Speaker 1: the trajectory of my career. Maybe want to go from
Speaker 1: a basic research institute back into a hospital environment where
Speaker 1: we could start to apply this and understand what it
Speaker 1: might mean for the future of medicine. By two thousan twelve,
Speaker 1: Dr Kingsmore was testing out a new ultra fast sequencing
Speaker 1: machine on sick babies. We started to use it in
Speaker 1: our neonatal intensive care unit, where decisions had to be
Speaker 1: made within minutes or ours. There was no time to
Speaker 1: lose in making it diagnosis, and so we published a
Speaker 1: paper in October twelve saying that we could decode a
Speaker 1: baby's genome in forty eight hours and return those results
Speaker 1: back to the ne anatologists and showed that it would
Speaker 1: change the management. That was truly a breakthrough. Dr Kingsmore
Speaker 1: is now at the forefront of using genome testing to
Speaker 1: diagnose and treat infants with unknown genetic diseases at the
Speaker 1: RADI Children's Institute for Genomic Medicine in San Diego. It
Speaker 1: turns out to be an ideal application for genome sequencing.
Speaker 1: Tens of thousands of babies are born each year with
Speaker 1: unknown genetic diseases. There are ten thousand genetic diseases, and
Speaker 1: no physician on planet Earth has ever seen them all,
Speaker 1: so picking which of those to test for is incredibly difficult.
Speaker 1: The second thing is that in newborns, the genetic diseases
Speaker 1: really don't look like their textbook description. When you put
Speaker 1: those two reasons together, it means that without the ability
Speaker 1: to just survey the entire genome and examine all ten
Speaker 1: thows and genetic diseases at once, the likelihood of a
Speaker 1: physician making the correct diagnosis is almost zero. His lab
Speaker 1: has three of the top of the line geno i'm
Speaker 1: scanning machines from a company called a Lumina. The machines
Speaker 1: are roughly the size of a washing machine. In urgent situations,
Speaker 1: his team can decode a baby genome in about two days.
Speaker 1: We receive blood samples and medical records from about fifteen
Speaker 1: children's hospitals all around North America, and so they will
Speaker 1: contact us and let us know that they have a
Speaker 1: kid who they believe they might need a genome sequence on,
Speaker 1: and the following morning the sample will arrive. Will then
Speaker 1: put that into our batch for the day, and our
Speaker 1: goal is to deliver a diagnostic result as quickly as
Speaker 1: as humanly possible back to that physician, with a goal
Speaker 1: obviously of giving treatment guidance that will either save a
Speaker 1: child's life or prevent complications of that disease. In three
Speaker 1: years at Rady, Dr Kingsmore's team is the code of
Speaker 1: the genomes of hundreds of sick babies, and it is
Speaker 1: making a difference. So one and two or one in three,
Speaker 1: we will make a diagnosis. A figure that's completely consistent
Speaker 1: is that of those diagnoses will resultant changes in how
Speaker 1: the baby is managed in the intensive care unit. And
Speaker 1: then about one and four has a change in outcome.
Speaker 1: Sometimes it has life saving There are some extraordinary saves.
Speaker 1: There are some children who undoubtedly would die, and we
Speaker 1: make a phone call with a diagnosis. There's a treatment
Speaker 1: that's given promptly, and the child does well, faster, cheaper.
Speaker 1: DNA toton was beginning to revolutionize medical care by two
Speaker 1: Then in two two things happened, one in Washington and
Speaker 1: the other in Hollywood. The Supreme Court said that jeans
Speaker 1: couldn't be someone's intellectual property, and one of the world's
Speaker 1: biggest movie stars made a start medical choice based on
Speaker 1: her DNA. A few years ago, a blood test revealed
Speaker 1: that Angeline had carried a mutation of the b r
Speaker 1: c A one gene, giving her an estimated eighty seven
Speaker 1: percent risk of breast cancer of fifty risk of ovarian cancer.
Speaker 1: So in she had both brushed removed and underwent reconstructive surgery,
Speaker 1: emerging as a beacon of hope for women when she
Speaker 1: told the world, I feel wonderful. I'm very, very grateful.
Speaker 1: Ellen Mattlof at the time was a cancer genetic counselor
Speaker 1: at Yeah University. She helped patients and their families understand
Speaker 1: their risk, what are the correct tests, and interpret complex
Speaker 1: DNA results. When I was the director of the cancer
Speaker 1: Genetic Counseling program at Yale, I saw several things shifting,
Speaker 1: and they were seismic shifts. First, Angelina Jolie came out
Speaker 1: with her New York Times editorial that she was a
Speaker 1: b r C A one carrier, and overnight our referrals
Speaker 1: increased by fort and they never returned to baseline. There
Speaker 1: was a huge change. Then a few weeks later, the
Speaker 1: Supreme Court issued its ruling that meant companies, including the
Speaker 1: one that had a monopoly in the test Angelina Jolie used,
Speaker 1: couldn't own the patents on Jeanes Here's Dr Collins again.
Speaker 1: It was a wonderful day, indeed, when the Supreme Court,
Speaker 1: in a nine to nothing decision, came out with their
Speaker 1: conclusion that gene patenting ought not to be a ouabol
Speaker 1: that it didn't fit with the original goals of the
Speaker 1: patent system, and I think that has opened up diagnostics
Speaker 1: in a much broader way, which has been a very
Speaker 1: good thing for the whole field and has accelerated the
Speaker 1: possibilities of many of us having that kind of information
Speaker 1: now or in the future. For years, one company had
Speaker 1: the patent on b r C A one and b
Speaker 1: r C A two, the most common causes of hereditary
Speaker 1: breast cancer. That meant that hospitals and companies not holding
Speaker 1: the patent couldn't combine them into broader tests. Gene patenting
Speaker 1: was a serious threat on the view of many of
Speaker 1: us to progress in this field, and yet it continued
Speaker 1: for quite a few years after that. At the time
Speaker 1: of the Supreme Court ruling, BRCA testing costs as much
Speaker 1: as four thousand dollars. Within days of the decision, new
Speaker 1: companies that have been barred from the market started offering
Speaker 1: their own tests. Cost plummeted. Ellen matt Loff, who now
Speaker 1: runs a startup called My Gene Council, was a plaint
Speaker 1: different the Supreme Court case. She saw the impact on
Speaker 1: patients firsthand. And today we have some testing companies that
Speaker 1: have offered b r C A one and two testing
Speaker 1: from time to time for a hundred or two hundred dollars,
Speaker 1: so it's changed dramatically. Of course, cost isn't the only
Speaker 1: problem that geneticists were grappling with, and the easy diagnoses
Speaker 1: and freely flowing data envisioned years ago haven't quite come
Speaker 1: to pass. I can remember fifteen years ago when the
Speaker 1: genome was sequenced that everyone was saying that first of all,
Speaker 1: you would carry around your genome like a flash drive
Speaker 1: and it would be a piece of cake. You just
Speaker 1: bring it to your doctor's office, plug it in, and
Speaker 1: that every doctor would be so educated on genomics that
Speaker 1: they would be able to interpret it. None of that
Speaker 1: has been as simple as it sounded. But where the
Speaker 1: failure has come is helping consumers and healthcare providers under
Speaker 1: stand and use the data. Also, as genetic tests become
Speaker 1: more common, the risk of misinterpretation by doctors untrained in
Speaker 1: the complex world of genetics is growing. This is especially
Speaker 1: true in the high stakes area of cancer. We're ordering
Speaker 1: the wrong tests or misinterpreting the result can lead to
Speaker 1: a fatal illness or unnecessary surgery. It's a problem that
Speaker 1: some say is getting worse, we're finding that genetic test
Speaker 1: results are being misinterpreted more often now than ever before,
Speaker 1: and the reason for that is that fewer patients are
Speaker 1: seeing certified genetic counselors to order their tests and to
Speaker 1: interpret them after. And also the tests have grown in complexity,
Speaker 1: so it's easier to misinterpret them now. In terms of drugs,
Speaker 1: Dr Collins says cancer is one area that seen a
Speaker 1: direct impact from the Genome project. Cancer is fundamentally genetic disease,
Speaker 1: and understanding gene abnormalities and patient tumors has led to
Speaker 1: powerful new treatments for leukemia, certain types of lung cancer,
Speaker 1: and breast cancer. If you want to take an area
Speaker 1: we're having access to genome sequence has been revolutionary, it's cancer.
Speaker 1: If I had cancer today, or if anybody I know
Speaker 1: had cancer today, I would want their tumor to undergo
Speaker 1: a complete DNA sequencing in order to identify what mutations
Speaker 1: have happened in that cancer to cause those good cells
Speaker 1: to go bad. Increasingly, cancer centers are scanning patients DNA
Speaker 1: to match them to the treatment most likely to work
Speaker 1: for them, and biotech companies are working on developing a
Speaker 1: liquid biopsy that which detect signs of cancer in the blood.
Speaker 1: So far this year, there have been about a dozen
Speaker 1: new cancer drugs approved by the FDA, and so the
Speaker 1: list of targeted drug treatments for cancer is growing almost daily. Nevertheless,
Speaker 1: many tumors have turned out to have a complicated array
Speaker 1: of mutations and we don't always know how to arget them.
Speaker 1: But there may be another reason why there aren't more
Speaker 1: gene based drugs. Louise am All, who studies complex systems
Speaker 1: at Northwestern University That's found that risk averse researchers have
Speaker 1: been concentrating most of their attention on genes that have
Speaker 1: been known for years. They are ignoring unknown genes, some
Speaker 1: of which could lead to medical breakthroughs. One of the
Speaker 1: numbers that I think is important is this idea that
Speaker 1: five of the genes are accounting for about fifty of
Speaker 1: the publications. Very little attention is really being given to
Speaker 1: a very large fraction of the of the genes. In fact,
Speaker 1: in the five years between twous and eleven and two fifteen,
Speaker 1: Dr Amroll and as research partner Thomas Stutgart found only
Speaker 1: a handful of new genes broke out from obscurity to
Speaker 1: become objects of intensive scientific research. Everybody is becoming more
Speaker 1: and more conservative, which means that the way in which
Speaker 1: we are exploring the known is less and less efficient.
Speaker 1: But if we keep having at attitudes we are never
Speaker 1: I mean, it's going to be you know, a new
Speaker 1: gene understood per per year, and at that rate it
Speaker 1: would only take about another fifteen thousand years to understand
Speaker 1: every single gene in the human geno. One method that
Speaker 1: has proven useful for finding new drugs has been looking
Speaker 1: for people with certain genetic abnormalities, but instead of hurting them,
Speaker 1: their mutations help and a robust constructor in Texas with
Speaker 1: super low cholesterol had a rare mutation in a gene
Speaker 1: called PCSK nine. That discovery has led to two powerful
Speaker 1: new cholesterol lowering medications into US and fifteen here's Dr
Speaker 1: Collins again finding individuals who are rare examples where they're
Speaker 1: protected against disease. You could call them superhumans. Um is
Speaker 1: very much part of what anybody who thinks about genetics
Speaker 1: would hope to find, and that's what we found with
Speaker 1: PCSK nine. It's one of those really amazing success stories
Speaker 1: of the last decade. To help find more vision treatments,
Speaker 1: the NAH set up a giant new research program that
Speaker 1: will track the health information of one million American residents,
Speaker 1: eventually sequencing the genomes of all of them. That all
Speaker 1: of us project will cost one point five billion over
Speaker 1: ten years. If we really want to understand how effectively
Speaker 1: to apply precision medicine to the average person in this country,
Speaker 1: we need a very large pilot study to find out
Speaker 1: how that works. This will be the largest, most powerful
Speaker 1: research database ever contemplated in this country, and it will
Speaker 1: teach us whether such things as knowing your genome sequence
Speaker 1: is going to make you healthier. So what's next? George Church,
Speaker 1: the genetics professor at Harvard Medical School, thinks the state
Speaker 1: of DNA testing and scanning it's like the Internet in
Speaker 1: the early nineties. So I was using computer network type
Speaker 1: of things around, which is about the time that the
Speaker 1: Internet started, and it was pretty sleepy until around when
Speaker 1: suddenly everybody saw that there was a web browser, and
Speaker 1: then within a year there was millions of web pages.
Speaker 1: From almost a standstill, we have all the infrastructure in
Speaker 1: place to sequence millions of human genos possibly billions, with
Speaker 1: a little effort, but people are not aware of it.
Speaker 1: They don't realize that the killer apps are already some
Speaker 1: of them are already there. In October, the Food and
Speaker 1: Drug Administration approved the first direct to consumer tests to
Speaker 1: spot genetic variations and how people's bodies interact with different medicines,
Speaker 1: but warned that people shouldn't use it to make medical
Speaker 1: decisions by themselves. But while most people don't need it,
Speaker 1: the potential for greater use of genetic testing is enormous.
Speaker 1: Here's Dr Collins again. We now know that probably two
Speaker 1: or three percent of us are walking around with significant
Speaker 1: DNA mistakes that would be actionable right now if we
Speaker 1: knew about it that we have one of those misspelled
Speaker 1: things that places us at risk maybe for heart disease
Speaker 1: or cancer, or some clotting problem or some neurologic difficulty.
Speaker 1: Two or three percent, well goodness six If they're three
Speaker 1: million people just in this country, we're talking about somewhere
Speaker 1: between six to nine million people right now that if
Speaker 1: they had that information, their medical care would change for
Speaker 1: their benefit. George Church thinks that genome scanning could directly
Speaker 1: help at least one percent of people and more are
Speaker 1: walking around with genetic variants and might put their children
Speaker 1: at risk. But that would be my guess is ten
Speaker 1: years from now, we could have everybody who has any
Speaker 1: reasonable health care plan, maybe a billion people sequenced, and
Speaker 1: then five of those that are at risk for having
Speaker 1: children that have a severe genet disease will avoid that.
Speaker 1: The key, he says, is getting people to do it.
Speaker 1: I think it's analogous to seat belts, where the seat
Speaker 1: belts were free, but people still didn't use them and
Speaker 1: you had to had to have some public health strategy.
Speaker 1: We've come a long way. Francis Collins's career shows how
Speaker 1: much the technology has advanced. When he and other scientists
Speaker 1: were trying to find the gene for cystic fibrosis in
Speaker 1: the nineteen eighties, it was agonizingly slow going. It was
Speaker 1: horrendously difficult. There was no genome project. There was very
Speaker 1: little knowledge about anything about the DNA of the human
Speaker 1: except little tiny islands that people had worked on. It
Speaker 1: took years, but now, thanks to their groundwork, there finally
Speaker 1: our treatments today. If you gave me DNA samples from
Speaker 1: a few families with cystic fibrosis and a DNA sequencer,
Speaker 1: a decent graduate student would have this answer in about
Speaker 1: two days. That's the way it's happened. That's the that's
Speaker 1: a great example of just what it has meant to
Speaker 1: cross into this new territory where these technologies are so
Speaker 1: powerful and so widely available. So if anybody tries to say, well,
Speaker 1: you know, general Mix was sort of a fizzle that
Speaker 1: didn't get us anywhere, boy, just look at what's now feasible.
Speaker 1: And that's it for this week's prognosis. Thanks for listening.
Speaker 1: Do you have a story about healthcare in the US
Speaker 1: or around the world. We want to hear from you.
Speaker 1: You can email me m Cortes at Bloomberg dot net
Speaker 1: or find me on Twitter at the Cortes. If you
Speaker 1: are a fan of this episode, please take a moment
Speaker 1: to rate and review us. It helps new listeners find
Speaker 1: the show. This episode was produced by Liz Smith. Our
Speaker 1: story editor was Tim and Ette. Thanks also that Drew
Speaker 1: Armstrong Francesco Levie is head of Bloomberg Podcasts. We'll see
Speaker 1: you next week.