WEBVTT - Decoding the Genome Was Just the Beginning 0:00:14.240 --> 0:00:16.959 We're here to celebrate the completion of the first survey 0:00:17.480 --> 0:00:20.959 of the entire human genome. Without a doubt, this is 0:00:21.000 --> 0:00:25.959 the most important, most wondrous map ever produced by human kind. 0:00:28.480 --> 0:00:30.600 The moment we are here to witness was brought about 0:00:31.280 --> 0:00:34.160 brilliant and painstaking work of scientists all over the world, 0:00:34.159 --> 0:00:38.680 including It was June two thousand. President Bill Clinton was 0:00:38.680 --> 0:00:42.199 in the crowded White House East Room announcing a momentous achievement. 0:00:42.720 --> 0:00:46.199 Government scientist had decoded nearly all three billion letters of 0:00:46.200 --> 0:00:50.520 the human genetic blueprint. The excitement and the hype was intense. 0:00:51.200 --> 0:00:54.440 President Clinton painted a tantalizing picture of the opening of 0:00:54.440 --> 0:00:58.600 a new scientific frontier. With this profound new knowledge, human 0:00:58.680 --> 0:01:01.160 kind is on the verge of gaining immense new power 0:01:01.240 --> 0:01:05.360 to heal. Genome science will have a real impact on 0:01:05.520 --> 0:01:09.120 all our lives, and even more on the lives of 0:01:09.160 --> 0:01:14.399 our children. It will revolutionize the diagnosis, prevention, and treatment 0:01:14.400 --> 0:01:18.080 of most, if not all, human diseases. In coming years, 0:01:18.120 --> 0:01:22.720 doctors increasingly will be able to cure diseases like Alzheimer's, Parkinson's, diabetes, 0:01:23.080 --> 0:01:30.640 and cancer by attacking their genetic roots. It didn't work 0:01:30.680 --> 0:01:35.480 out that way at least not exactly. Welcome to Prognosis. 0:01:35.840 --> 0:01:41.760 I'm your host, Michelle fay Cortes. This week, we're going 0:01:41.800 --> 0:01:44.520 to tell you what happened after the press conference and 0:01:44.560 --> 0:01:47.680 how one of the greatest undertakings in medical history, the 0:01:47.720 --> 0:01:51.000 decoding of the human genome, was just the start of 0:01:51.040 --> 0:01:55.760 an exhilarating, frustrating journey that's still far from over. Here's 0:01:55.760 --> 0:02:13.040 Bloomberg's Bob Langrath with the story. Sitting next to Clinton 0:02:13.120 --> 0:02:16.720 at the White House was Francis Collins. Cons is a geneticist, 0:02:16.840 --> 0:02:18.799 and he led the international team that worked on the 0:02:18.840 --> 0:02:22.040 genome project. Now he runs the National Institutes of Health. 0:02:22.880 --> 0:02:25.560 I was both excited about the way in which the 0:02:25.600 --> 0:02:27.120 world was going to find out that we had a 0:02:27.200 --> 0:02:30.560 draft of the human genome sequence, the instruction book for 0:02:30.639 --> 0:02:33.880 human biology. But I had also just spoken at the 0:02:33.919 --> 0:02:37.080 funeral of my sister in law two days before, who 0:02:37.160 --> 0:02:40.800 died from cancer and for whom this particular advance hadn't 0:02:40.800 --> 0:02:43.520 come along soon enough. So I sort of put the 0:02:43.520 --> 0:02:47.000 whole thing into focus of what we had and how 0:02:47.080 --> 0:02:49.720 far we still needed to go for this to actually 0:02:49.760 --> 0:02:55.440 benefit people who are waiting for answers. Actually the genome 0:02:55.440 --> 0:02:58.960 wasn't done. There was only a first draft. The unveiling 0:02:59.080 --> 0:03:01.520 was pushed out quickly, in part because the government was 0:03:01.600 --> 0:03:04.640 raising a private group at the press conference, the teams 0:03:04.639 --> 0:03:08.160 that only fully scanned about the genome. It would be 0:03:08.280 --> 0:03:11.640 three years before the final version was published, and even 0:03:11.680 --> 0:03:14.120 with the map, finding the causes of diseases in the 0:03:14.160 --> 0:03:18.200 genetic code was elusive. Instead of a few key genes 0:03:18.280 --> 0:03:23.040 driving common ailments like heart disease or diabetes, scientists found dozens, 0:03:23.280 --> 0:03:28.480 if not hundreds. Human common disease is really complicated, more 0:03:28.520 --> 0:03:33.639 complicated than we thought it was going to be less 0:03:33.639 --> 0:03:36.880 than a decade ago. Despite the flood of new genome data, 0:03:37.160 --> 0:03:39.800 there was a sense that drugs were getting harder to discover. 0:03:40.560 --> 0:03:42.920 A two thousand and ten New York Times article called 0:03:42.920 --> 0:03:45.760 the goal of finding the genetic roots of disease elusive. 0:03:46.320 --> 0:03:50.040 It said that, quote geneticists are almost back to square 0:03:50.080 --> 0:03:52.440 one and knowing where to look for the roots of 0:03:52.480 --> 0:03:58.400 common disease unquote, but behind the scenes, something important was happening. 0:03:59.680 --> 0:04:02.360 It took thirteen years and costs three billion dollars to 0:04:02.400 --> 0:04:06.160 decode the first genome, and fo million dollars of that 0:04:06.320 --> 0:04:09.680 went just to the sequencing itself. According to Dr Collins, 0:04:10.960 --> 0:04:13.760 the sequencing machines that did most of the work for 0:04:13.840 --> 0:04:17.200 sequencing that first human genome or the size of phone booths, 0:04:17.680 --> 0:04:20.479 and it took a warehouse full of them to have 0:04:20.560 --> 0:04:23.559 the kind of throughtput you needed to achieve this. DNA 0:04:23.680 --> 0:04:28.119 sequencing needed to get faster, cheaper, and smaller. It needed 0:04:28.200 --> 0:04:32.240 a revolution. If you look over the history of science, 0:04:32.920 --> 0:04:37.000 the thing that has been profoundly game changing in a 0:04:37.080 --> 0:04:41.599 scientific area is major technical innovations. You know, whether it 0:04:41.720 --> 0:04:45.840 was inventing the telescope, what it did to astronomy, inventing 0:04:45.839 --> 0:04:49.800 a microscope, what it did for microbiology and cell biology, 0:04:50.160 --> 0:04:52.120 and look at that first cat scan, what it did 0:04:52.120 --> 0:04:55.680 for radiology. That's Eric Greene, who is now director of 0:04:55.680 --> 0:04:59.279 the National Human Genome Research Institute. He was an early 0:04:59.320 --> 0:05:02.160 genome research or at the ni H. I think we 0:05:02.240 --> 0:05:06.120 recognize that the technologies that were used for sequence in 0:05:06.120 --> 0:05:09.400 that first human genome were good enough, but we needed 0:05:09.440 --> 0:05:12.359 something far better. The trick was to take billions of 0:05:12.440 --> 0:05:15.280 letters in a person's DNA and process them all at 0:05:15.279 --> 0:05:18.200 the same time, like a computer circuit with billions of 0:05:18.200 --> 0:05:22.480 transistors all firing at once. As newer and faster machines 0:05:22.520 --> 0:05:26.560 were introduced, costs sank rapidly. In two thousand and five, 0:05:26.680 --> 0:05:29.000 the cost of scanning a human genome ran to about 0:05:29.040 --> 0:05:33.320 ten million dollars. By two fifteen, raw scanning costs plummeted 0:05:33.440 --> 0:05:37.039 to below dollars. And in two thousand three, did I 0:05:37.040 --> 0:05:39.720 believe it was going to happen this quickly? Absolutely not. 0:05:39.880 --> 0:05:42.080 I'm sure any of us would have gotten it wrong, 0:05:42.279 --> 0:05:44.719 probably by toothfold. We probably would have said it would 0:05:44.760 --> 0:05:46.840 have taken, you know, thirty years to get down to 0:05:46.880 --> 0:05:50.719 a thousand dollar human genome sequence. Room fulls of machines 0:05:50.800 --> 0:05:54.400 were no longer needed. Dr Collins says, now on the 0:05:54.440 --> 0:05:57.200 sequencing machines sit on the desktop, or in the most 0:05:57.240 --> 0:06:00.760 dramatic example, they're about the size of a cell phone 0:06:01.080 --> 0:06:10.040 that attaches directly to your laptop. That's when DNA sequencing 0:06:10.200 --> 0:06:13.960 went from being a research tool and became medicine. In 0:06:14.040 --> 0:06:17.080 two thousand and nine, doctors in Wisconsin were treating four 0:06:17.120 --> 0:06:20.919 year old Nicholas Voker for a mysterious disease that produced 0:06:20.920 --> 0:06:25.960 holes and his intestine. In desperation, his doctor's convinced genesis 0:06:26.040 --> 0:06:29.320 at the Medical College of Wisconsin to sequence all his genes. 0:06:29.920 --> 0:06:32.920 Here's next doctor reaching out to the geneticist with an 0:06:33.080 --> 0:06:37.680 unprecedented request. Dear Howard, I hope you are well. I'm 0:06:37.720 --> 0:06:40.240 writing to get your thoughts on a patient of mine 0:06:40.320 --> 0:06:44.320 that might benefit from a high throughput sequencing of his genome. 0:06:45.279 --> 0:06:49.039 This is a unique situation. This patients is very ill 0:06:49.480 --> 0:06:53.920 and has been in the hospital since January. It worked. 0:06:54.720 --> 0:06:58.000 They found an unexpected mutation and it pointed to a treatment, 0:06:58.520 --> 0:07:02.719 a bone marrow transplant. The case exploded into the headlines 0:07:02.760 --> 0:07:05.960 with the Milwaukee, Wisconsin Journal Sentinel wrote a Pulitzer Prize 0:07:06.000 --> 0:07:10.000 winning series about the success. Around the same time, researcher 0:07:10.040 --> 0:07:13.400 Stephen Kingsmore helped perform a highly detailed genome of a 0:07:13.480 --> 0:07:18.160 Korean person. The medical potential was becoming clearer. We kind 0:07:18.200 --> 0:07:21.280 of as a team had a Eureka moment when we said, 0:07:21.320 --> 0:07:24.160 ah ha, there's a huge amount of information in here 0:07:24.200 --> 0:07:28.200 that's of practical usefulness to people, and this really changed 0:07:28.240 --> 0:07:31.720 the trajectory of my career. Maybe want to go from 0:07:31.720 --> 0:07:37.080 a basic research institute back into a hospital environment where 0:07:37.080 --> 0:07:39.640 we could start to apply this and understand what it 0:07:39.720 --> 0:07:43.080 might mean for the future of medicine. By two thousan twelve, 0:07:43.240 --> 0:07:46.720 Dr Kingsmore was testing out a new ultra fast sequencing 0:07:46.720 --> 0:07:51.160 machine on sick babies. We started to use it in 0:07:51.280 --> 0:07:55.600 our neonatal intensive care unit, where decisions had to be 0:07:55.720 --> 0:07:58.760 made within minutes or ours. There was no time to 0:07:58.960 --> 0:08:02.920 lose in making it diagnosis, and so we published a 0:08:03.000 --> 0:08:07.880 paper in October twelve saying that we could decode a 0:08:07.960 --> 0:08:11.800 baby's genome in forty eight hours and return those results 0:08:11.840 --> 0:08:15.080 back to the ne anatologists and showed that it would 0:08:15.200 --> 0:08:20.120 change the management. That was truly a breakthrough. Dr Kingsmore 0:08:20.200 --> 0:08:22.680 is now at the forefront of using genome testing to 0:08:22.840 --> 0:08:26.400 diagnose and treat infants with unknown genetic diseases at the 0:08:26.480 --> 0:08:30.000 RADI Children's Institute for Genomic Medicine in San Diego. It 0:08:30.040 --> 0:08:33.400 turns out to be an ideal application for genome sequencing. 0:08:33.800 --> 0:08:36.160 Tens of thousands of babies are born each year with 0:08:36.280 --> 0:08:40.960 unknown genetic diseases. There are ten thousand genetic diseases, and 0:08:41.000 --> 0:08:43.679 no physician on planet Earth has ever seen them all, 0:08:44.000 --> 0:08:48.240 so picking which of those to test for is incredibly difficult. 0:08:48.880 --> 0:08:52.760 The second thing is that in newborns, the genetic diseases 0:08:52.960 --> 0:08:56.520 really don't look like their textbook description. When you put 0:08:56.520 --> 0:08:59.920 those two reasons together, it means that without the ability 0:09:00.040 --> 0:09:04.040 to just survey the entire genome and examine all ten 0:09:04.160 --> 0:09:08.760 thows and genetic diseases at once, the likelihood of a 0:09:08.800 --> 0:09:14.040 physician making the correct diagnosis is almost zero. His lab 0:09:14.120 --> 0:09:16.200 has three of the top of the line geno i'm 0:09:16.200 --> 0:09:19.600 scanning machines from a company called a Lumina. The machines 0:09:19.600 --> 0:09:23.479 are roughly the size of a washing machine. In urgent situations, 0:09:23.520 --> 0:09:26.400 his team can decode a baby genome in about two days. 0:09:27.240 --> 0:09:33.400 We receive blood samples and medical records from about fifteen 0:09:33.440 --> 0:09:38.080 children's hospitals all around North America, and so they will 0:09:38.120 --> 0:09:40.280 contact us and let us know that they have a 0:09:40.360 --> 0:09:43.640 kid who they believe they might need a genome sequence on, 0:09:44.200 --> 0:09:47.200 and the following morning the sample will arrive. Will then 0:09:47.280 --> 0:09:50.720 put that into our batch for the day, and our 0:09:50.760 --> 0:09:56.559 goal is to deliver a diagnostic result as quickly as 0:09:56.600 --> 0:10:01.160 as humanly possible back to that physician, with a goal 0:10:01.200 --> 0:10:05.520 obviously of giving treatment guidance that will either save a 0:10:05.600 --> 0:10:11.280 child's life or prevent complications of that disease. In three 0:10:11.360 --> 0:10:13.959 years at Rady, Dr Kingsmore's team is the code of 0:10:14.000 --> 0:10:16.920 the genomes of hundreds of sick babies, and it is 0:10:17.000 --> 0:10:20.800 making a difference. So one and two or one in three, 0:10:21.120 --> 0:10:24.360 we will make a diagnosis. A figure that's completely consistent 0:10:24.440 --> 0:10:29.120 is that of those diagnoses will resultant changes in how 0:10:29.160 --> 0:10:33.440 the baby is managed in the intensive care unit. And 0:10:33.480 --> 0:10:36.320 then about one and four has a change in outcome. 0:10:36.960 --> 0:10:41.280 Sometimes it has life saving There are some extraordinary saves. 0:10:41.360 --> 0:10:45.720 There are some children who undoubtedly would die, and we 0:10:45.800 --> 0:10:48.800 make a phone call with a diagnosis. There's a treatment 0:10:48.880 --> 0:10:59.280 that's given promptly, and the child does well, faster, cheaper. 0:10:59.400 --> 0:11:02.959 DNA toton was beginning to revolutionize medical care by two 0:11:04.120 --> 0:11:09.200 Then in two two things happened, one in Washington and 0:11:09.240 --> 0:11:12.480 the other in Hollywood. The Supreme Court said that jeans 0:11:12.600 --> 0:11:16.559 couldn't be someone's intellectual property, and one of the world's 0:11:16.600 --> 0:11:19.320 biggest movie stars made a start medical choice based on 0:11:19.400 --> 0:11:25.199 her DNA. A few years ago, a blood test revealed 0:11:25.200 --> 0:11:27.959 that Angeline had carried a mutation of the b r 0:11:28.040 --> 0:11:31.880 c A one gene, giving her an estimated eighty seven 0:11:31.960 --> 0:11:36.920 percent risk of breast cancer of fifty risk of ovarian cancer. 0:11:37.400 --> 0:11:43.320 So in she had both brushed removed and underwent reconstructive surgery, 0:11:43.800 --> 0:11:46.480 emerging as a beacon of hope for women when she 0:11:46.640 --> 0:11:49.760 told the world, I feel wonderful. I'm very, very grateful. 0:11:56.600 --> 0:11:59.560 Ellen Mattlof at the time was a cancer genetic counselor 0:11:59.600 --> 0:12:03.320 at Yeah University. She helped patients and their families understand 0:12:03.360 --> 0:12:06.600 their risk, what are the correct tests, and interpret complex 0:12:06.679 --> 0:12:11.240 DNA results. When I was the director of the cancer 0:12:11.280 --> 0:12:15.600 Genetic Counseling program at Yale, I saw several things shifting, 0:12:15.760 --> 0:12:20.720 and they were seismic shifts. First, Angelina Jolie came out 0:12:20.800 --> 0:12:23.640 with her New York Times editorial that she was a 0:12:23.720 --> 0:12:27.800 b r C A one carrier, and overnight our referrals 0:12:27.920 --> 0:12:33.200 increased by fort and they never returned to baseline. There 0:12:33.280 --> 0:12:37.080 was a huge change. Then a few weeks later, the 0:12:37.120 --> 0:12:40.880 Supreme Court issued its ruling that meant companies, including the 0:12:40.880 --> 0:12:43.720 one that had a monopoly in the test Angelina Jolie used, 0:12:43.840 --> 0:12:47.480 couldn't own the patents on Jeanes Here's Dr Collins again. 0:12:48.600 --> 0:12:51.880 It was a wonderful day, indeed, when the Supreme Court, 0:12:52.120 --> 0:12:55.720 in a nine to nothing decision, came out with their 0:12:56.080 --> 0:13:00.480 conclusion that gene patenting ought not to be a ouabol 0:13:00.559 --> 0:13:02.840 that it didn't fit with the original goals of the 0:13:02.880 --> 0:13:06.960 patent system, and I think that has opened up diagnostics 0:13:07.200 --> 0:13:10.120 in a much broader way, which has been a very 0:13:10.160 --> 0:13:13.760 good thing for the whole field and has accelerated the 0:13:13.800 --> 0:13:16.960 possibilities of many of us having that kind of information 0:13:17.200 --> 0:13:20.440 now or in the future. For years, one company had 0:13:20.440 --> 0:13:22.240 the patent on b r C A one and b 0:13:22.360 --> 0:13:25.439 r C A two, the most common causes of hereditary 0:13:25.480 --> 0:13:29.079 breast cancer. That meant that hospitals and companies not holding 0:13:29.080 --> 0:13:33.560 the patent couldn't combine them into broader tests. Gene patenting 0:13:34.559 --> 0:13:38.200 was a serious threat on the view of many of 0:13:38.320 --> 0:13:43.239 us to progress in this field, and yet it continued 0:13:43.320 --> 0:13:46.280 for quite a few years after that. At the time 0:13:46.320 --> 0:13:49.800 of the Supreme Court ruling, BRCA testing costs as much 0:13:49.800 --> 0:13:53.199 as four thousand dollars. Within days of the decision, new 0:13:53.240 --> 0:13:55.680 companies that have been barred from the market started offering 0:13:55.760 --> 0:14:00.280 their own tests. Cost plummeted. Ellen matt Loff, who now 0:14:00.320 --> 0:14:02.760 runs a startup called My Gene Council, was a plaint 0:14:02.760 --> 0:14:05.719 different the Supreme Court case. She saw the impact on 0:14:05.800 --> 0:14:10.320 patients firsthand. And today we have some testing companies that 0:14:10.400 --> 0:14:12.600 have offered b r C A one and two testing 0:14:12.679 --> 0:14:16.559 from time to time for a hundred or two hundred dollars, 0:14:16.559 --> 0:14:20.600 so it's changed dramatically. Of course, cost isn't the only 0:14:20.640 --> 0:14:24.520 problem that geneticists were grappling with, and the easy diagnoses 0:14:24.560 --> 0:14:27.760 and freely flowing data envisioned years ago haven't quite come 0:14:27.760 --> 0:14:31.160 to pass. I can remember fifteen years ago when the 0:14:31.200 --> 0:14:34.720 genome was sequenced that everyone was saying that first of all, 0:14:34.760 --> 0:14:37.480 you would carry around your genome like a flash drive 0:14:38.160 --> 0:14:39.960 and it would be a piece of cake. You just 0:14:40.000 --> 0:14:42.280 bring it to your doctor's office, plug it in, and 0:14:42.320 --> 0:14:46.360 that every doctor would be so educated on genomics that 0:14:46.480 --> 0:14:49.600 they would be able to interpret it. None of that 0:14:49.760 --> 0:14:53.920 has been as simple as it sounded. But where the 0:14:53.960 --> 0:14:59.880 failure has come is helping consumers and healthcare providers under 0:15:00.080 --> 0:15:04.400 stand and use the data. Also, as genetic tests become 0:15:04.440 --> 0:15:08.240 more common, the risk of misinterpretation by doctors untrained in 0:15:08.280 --> 0:15:11.640 the complex world of genetics is growing. This is especially 0:15:11.640 --> 0:15:14.040 true in the high stakes area of cancer. We're ordering 0:15:14.040 --> 0:15:16.480 the wrong tests or misinterpreting the result can lead to 0:15:16.520 --> 0:15:20.000 a fatal illness or unnecessary surgery. It's a problem that 0:15:20.080 --> 0:15:24.240 some say is getting worse, we're finding that genetic test 0:15:24.320 --> 0:15:28.160 results are being misinterpreted more often now than ever before, 0:15:29.080 --> 0:15:33.320 and the reason for that is that fewer patients are 0:15:33.400 --> 0:15:37.240 seeing certified genetic counselors to order their tests and to 0:15:37.360 --> 0:15:42.040 interpret them after. And also the tests have grown in complexity, 0:15:42.560 --> 0:15:53.120 so it's easier to misinterpret them now. In terms of drugs, 0:15:53.200 --> 0:15:55.640 Dr Collins says cancer is one area that seen a 0:15:55.720 --> 0:16:00.440 direct impact from the Genome project. Cancer is fundamentally genetic disease, 0:16:00.680 --> 0:16:03.800 and understanding gene abnormalities and patient tumors has led to 0:16:03.920 --> 0:16:07.120 powerful new treatments for leukemia, certain types of lung cancer, 0:16:07.120 --> 0:16:10.320 and breast cancer. If you want to take an area 0:16:10.520 --> 0:16:14.440 we're having access to genome sequence has been revolutionary, it's cancer. 0:16:15.200 --> 0:16:17.760 If I had cancer today, or if anybody I know 0:16:17.840 --> 0:16:21.680 had cancer today, I would want their tumor to undergo 0:16:21.720 --> 0:16:26.400 a complete DNA sequencing in order to identify what mutations 0:16:26.480 --> 0:16:29.480 have happened in that cancer to cause those good cells 0:16:29.520 --> 0:16:33.520 to go bad. Increasingly, cancer centers are scanning patients DNA 0:16:33.640 --> 0:16:35.680 to match them to the treatment most likely to work 0:16:35.720 --> 0:16:38.800 for them, and biotech companies are working on developing a 0:16:38.920 --> 0:16:41.920 liquid biopsy that which detect signs of cancer in the blood. 0:16:42.240 --> 0:16:44.280 So far this year, there have been about a dozen 0:16:44.280 --> 0:16:47.840 new cancer drugs approved by the FDA, and so the 0:16:47.960 --> 0:16:54.880 list of targeted drug treatments for cancer is growing almost daily. Nevertheless, 0:16:55.320 --> 0:16:57.720 many tumors have turned out to have a complicated array 0:16:57.720 --> 0:17:01.360 of mutations and we don't always know how to arget them. 0:17:01.400 --> 0:17:03.280 But there may be another reason why there aren't more 0:17:03.360 --> 0:17:07.480 gene based drugs. Louise am All, who studies complex systems 0:17:07.520 --> 0:17:10.960 at Northwestern University That's found that risk averse researchers have 0:17:11.040 --> 0:17:13.359 been concentrating most of their attention on genes that have 0:17:13.400 --> 0:17:16.639 been known for years. They are ignoring unknown genes, some 0:17:16.760 --> 0:17:19.960 of which could lead to medical breakthroughs. One of the 0:17:20.080 --> 0:17:22.520 numbers that I think is important is this idea that 0:17:22.720 --> 0:17:28.040 five of the genes are accounting for about fifty of 0:17:28.160 --> 0:17:32.879 the publications. Very little attention is really being given to 0:17:33.040 --> 0:17:36.879 a very large fraction of the of the genes. In fact, 0:17:37.280 --> 0:17:39.879 in the five years between twous and eleven and two fifteen, 0:17:39.960 --> 0:17:44.080 Dr Amroll and as research partner Thomas Stutgart found only 0:17:44.080 --> 0:17:46.520 a handful of new genes broke out from obscurity to 0:17:46.560 --> 0:17:51.040 become objects of intensive scientific research. Everybody is becoming more 0:17:51.080 --> 0:17:54.639 and more conservative, which means that the way in which 0:17:54.720 --> 0:17:58.359 we are exploring the known is less and less efficient. 0:17:58.640 --> 0:18:02.000 But if we keep having at attitudes we are never 0:18:02.200 --> 0:18:04.840 I mean, it's going to be you know, a new 0:18:04.920 --> 0:18:09.280 gene understood per per year, and at that rate it 0:18:09.280 --> 0:18:13.119 would only take about another fifteen thousand years to understand 0:18:13.160 --> 0:18:17.080 every single gene in the human geno. One method that 0:18:17.119 --> 0:18:19.760 has proven useful for finding new drugs has been looking 0:18:19.760 --> 0:18:24.000 for people with certain genetic abnormalities, but instead of hurting them, 0:18:24.240 --> 0:18:27.960 their mutations help and a robust constructor in Texas with 0:18:28.160 --> 0:18:31.600 super low cholesterol had a rare mutation in a gene 0:18:31.680 --> 0:18:36.360 called PCSK nine. That discovery has led to two powerful 0:18:36.400 --> 0:18:40.359 new cholesterol lowering medications into US and fifteen here's Dr 0:18:40.400 --> 0:18:44.280 Collins again finding individuals who are rare examples where they're 0:18:44.280 --> 0:18:47.679 protected against disease. You could call them superhumans. Um is 0:18:48.400 --> 0:18:51.040 very much part of what anybody who thinks about genetics 0:18:51.080 --> 0:18:53.399 would hope to find, and that's what we found with 0:18:53.480 --> 0:18:57.320 PCSK nine. It's one of those really amazing success stories 0:18:57.359 --> 0:19:00.800 of the last decade. To help find more vision treatments, 0:19:00.880 --> 0:19:03.680 the NAH set up a giant new research program that 0:19:03.720 --> 0:19:06.880 will track the health information of one million American residents, 0:19:07.240 --> 0:19:10.600 eventually sequencing the genomes of all of them. That all 0:19:10.640 --> 0:19:13.280 of us project will cost one point five billion over 0:19:13.359 --> 0:19:17.480 ten years. If we really want to understand how effectively 0:19:17.560 --> 0:19:22.320 to apply precision medicine to the average person in this country, 0:19:22.400 --> 0:19:24.880 we need a very large pilot study to find out 0:19:24.960 --> 0:19:28.560 how that works. This will be the largest, most powerful 0:19:28.640 --> 0:19:32.440 research database ever contemplated in this country, and it will 0:19:32.440 --> 0:19:36.520 teach us whether such things as knowing your genome sequence 0:19:36.560 --> 0:19:43.600 is going to make you healthier. So what's next? George Church, 0:19:44.040 --> 0:19:47.240 the genetics professor at Harvard Medical School, thinks the state 0:19:47.320 --> 0:19:50.080 of DNA testing and scanning it's like the Internet in 0:19:50.119 --> 0:19:55.439 the early nineties. So I was using computer network type 0:19:55.440 --> 0:19:58.520 of things around, which is about the time that the 0:19:58.560 --> 0:20:04.440 Internet started, and it was pretty sleepy until around when 0:20:04.480 --> 0:20:08.000 suddenly everybody saw that there was a web browser, and 0:20:08.119 --> 0:20:12.120 then within a year there was millions of web pages. 0:20:12.440 --> 0:20:15.679 From almost a standstill, we have all the infrastructure in 0:20:15.680 --> 0:20:19.440 place to sequence millions of human genos possibly billions, with 0:20:19.480 --> 0:20:21.560 a little effort, but people are not aware of it. 0:20:21.600 --> 0:20:24.240 They don't realize that the killer apps are already some 0:20:24.320 --> 0:20:27.320 of them are already there. In October, the Food and 0:20:27.359 --> 0:20:30.560 Drug Administration approved the first direct to consumer tests to 0:20:30.600 --> 0:20:34.400 spot genetic variations and how people's bodies interact with different medicines, 0:20:35.000 --> 0:20:37.359 but warned that people shouldn't use it to make medical 0:20:37.400 --> 0:20:40.560 decisions by themselves. But while most people don't need it, 0:20:40.640 --> 0:20:43.320 the potential for greater use of genetic testing is enormous. 0:20:43.840 --> 0:20:47.240 Here's Dr Collins again. We now know that probably two 0:20:47.359 --> 0:20:51.840 or three percent of us are walking around with significant 0:20:52.000 --> 0:20:56.000 DNA mistakes that would be actionable right now if we 0:20:56.119 --> 0:20:59.920 knew about it that we have one of those misspelled 0:21:00.000 --> 0:21:02.960 things that places us at risk maybe for heart disease 0:21:03.560 --> 0:21:08.560 or cancer, or some clotting problem or some neurologic difficulty. 0:21:08.720 --> 0:21:11.560 Two or three percent, well goodness six If they're three 0:21:11.960 --> 0:21:15.479 million people just in this country, we're talking about somewhere 0:21:15.520 --> 0:21:18.840 between six to nine million people right now that if 0:21:18.840 --> 0:21:21.960 they had that information, their medical care would change for 0:21:22.119 --> 0:21:25.879 their benefit. George Church thinks that genome scanning could directly 0:21:25.920 --> 0:21:28.600 help at least one percent of people and more are 0:21:28.600 --> 0:21:31.600 walking around with genetic variants and might put their children 0:21:31.640 --> 0:21:34.400 at risk. But that would be my guess is ten 0:21:34.440 --> 0:21:38.120 years from now, we could have everybody who has any 0:21:38.280 --> 0:21:43.679 reasonable health care plan, maybe a billion people sequenced, and 0:21:43.720 --> 0:21:46.600 then five of those that are at risk for having 0:21:46.880 --> 0:21:50.280 children that have a severe genet disease will avoid that. 0:21:51.040 --> 0:21:53.320 The key, he says, is getting people to do it. 0:21:53.520 --> 0:21:56.400 I think it's analogous to seat belts, where the seat 0:21:56.400 --> 0:21:59.000 belts were free, but people still didn't use them and 0:21:59.040 --> 0:22:02.080 you had to had to have some public health strategy. 0:22:02.359 --> 0:22:05.960 We've come a long way. Francis Collins's career shows how 0:22:06.040 --> 0:22:09.639 much the technology has advanced. When he and other scientists 0:22:09.680 --> 0:22:12.040 were trying to find the gene for cystic fibrosis in 0:22:12.080 --> 0:22:16.560 the nineteen eighties, it was agonizingly slow going. It was 0:22:16.720 --> 0:22:21.280 horrendously difficult. There was no genome project. There was very 0:22:21.320 --> 0:22:25.320 little knowledge about anything about the DNA of the human 0:22:25.359 --> 0:22:28.600 except little tiny islands that people had worked on. It 0:22:28.680 --> 0:22:32.560 took years, but now, thanks to their groundwork, there finally 0:22:32.560 --> 0:22:37.600 our treatments today. If you gave me DNA samples from 0:22:37.640 --> 0:22:41.280 a few families with cystic fibrosis and a DNA sequencer, 0:22:41.760 --> 0:22:44.320 a decent graduate student would have this answer in about 0:22:44.359 --> 0:22:48.600 two days. That's the way it's happened. That's the that's 0:22:48.640 --> 0:22:52.320 a great example of just what it has meant to 0:22:52.520 --> 0:22:55.919 cross into this new territory where these technologies are so 0:22:56.000 --> 0:22:59.400 powerful and so widely available. So if anybody tries to say, well, 0:22:59.440 --> 0:23:01.520 you know, general Mix was sort of a fizzle that 0:23:01.560 --> 0:23:06.359 didn't get us anywhere, boy, just look at what's now feasible. 0:23:12.800 --> 0:23:15.600 And that's it for this week's prognosis. Thanks for listening. 0:23:16.119 --> 0:23:18.040 Do you have a story about healthcare in the US 0:23:18.240 --> 0:23:20.440 or around the world. We want to hear from you. 0:23:21.080 --> 0:23:24.000 You can email me m Cortes at Bloomberg dot net 0:23:24.400 --> 0:23:27.359 or find me on Twitter at the Cortes. If you 0:23:27.400 --> 0:23:29.560 are a fan of this episode, please take a moment 0:23:29.560 --> 0:23:32.200 to rate and review us. It helps new listeners find 0:23:32.240 --> 0:23:35.520 the show. This episode was produced by Liz Smith. Our 0:23:35.520 --> 0:23:38.000 story editor was Tim and Ette. Thanks also that Drew 0:23:38.080 --> 0:23:42.320 Armstrong Francesco Levie is head of Bloomberg Podcasts. We'll see 0:23:42.320 --> 0:23:42.880 you next week.