Earlier this month, the House of Representatives passed the 21st Century Cures Act in a rare bi-partisan effort. The bill is meant to speed the development of lifesaving treatments, but critics warn it may also allow ineffective or even harmful drugs onto the market.
Three years ago, it cost $1 million to get your genome sequenced. Soon the price could drop to less than $1,000. Join us to discuss what a personal genetic analysis can reveal — and whether it’s too much information for an individual to handle.
- Arthur Caplan professor of bioethics and philosophy, University of Pennsylvania
- Kevin Davies science writer, Editor-in-chief of "Bio-IT World" and the author of "The $1000 Genome: The Revolution in DNA Sequencing and the New Era of Personalized Medicine."
- Misha Angrist the fourth subject in the Personal Genome Project, assistant professor at the Duke University Institute for Genome Sciences and Policy, author of "Here is a Human Being: At the Dawn of Personal Genomics."
MS. DIANE REHMThanks for joining us. I'm Diane Rehm. Growing public access to personal genome sequencing has been called a medical revolution in the making. We're not quite there yet, but the price of the technology has gone down significantly over the years. It's a technology that could not only change how we understand ourselves, but also how we receive medical treatment in the future. Joining me here in the studio is Misha Angrist, he's author of "Here is a Human Being," and Kevin Davies, he's author of "The $1,000 Genome." Do join us, 800-433-8850. I look forward to your e-mails at firstname.lastname@example.org. You can reach us through Facebook and Twitter. Good morning, gentlemen. Thanks for being here.
MR. MISHA ANGRISTGood morning.
MR. KEVIN DAVIESGood morning. Thanks for having us.
REHMGood to have you here. Kevin Davies, explain the Personal Genome Project.
DAVIESThe -- it really is the sort of the inevitable follow-up of the Human Genome Project. So we're here in Washington this week at the American Society of Human Genetics Conference celebrating the 10th anniversary of the Human Genome Project. You remember President Clinton and a big ceremony at the White House, and since then, people have been calling for new forms of DNA sequencing that can speed up the analysis so that in principle, everybody listening to your radio program could, in the very near future -- in fact, today, could have access to their complete personal genome project, if you will. That's a rather glib answer. There's an awful lot of information we need to understand about the human genome, but that technology is with us here and now.
REHMWhy would they want more information?
DAVIESWe've been hearing a lot about the promise of personalized medicine since the Human Genome Project was completed 10 years ago. And it hasn't really materialized, in part, because until -- you can't really personalize therapy for a patient or an individual until you know what their -- what -- exactly what diseases they have, and a big part of that question comes from knowing what their DNA encodes and what variations they've inherited. So consumer genomics companies have burst on the scene in the past few years offering all kinds of information that you can get simply by ordering over the Internet, spitting in a cup, sending off a saliva sample, and for as little as $500, you can learn a tremendous amount about your own genetic proclivities and quirks and conditions and the full genome sequence will happen right after that.
REHMMisha Angrist, you are one of the so-called Personal Genome Project 10. What did you have to do? And why did you want to do it?
ANGRISTWell, why did I want to do it? That's -- for me, that's almost an existential question. I spent most of my adult life in a genetics lab or thinking about human heredity in some capacity. I was a board-eligible genetic counselor, and I did a PhD and a post-doc in genetics. And I always felt that, for me, it was something of an abstraction that those of us who studied DNA and human genomes were always looking at someone else, and we were not to mess with our own genomes. And, occasionally, we might bleed ourselves and use ourselves as controls in a particular experiment if we were desperate. But when I saw a cover story in Scientific American in 2006 written by this guy at Harvard named George Church, who said, genomes for all, I thought it was quite resonate.
ANGRISTAnd he was clearly ahead of his time and was greeted with some mixture of silence and suspicion. But I was very much intrigued, and I essentially pestered him until he let me in. I think he got sick of me. And what did I have to do? Well, the Personal Genome Project is distinct from most -- virtually, all other human subjects research in genetics and genomics in that it makes no guarantees or promises of privacy and confidentiality. So, right now, my entire genome is available on the Internet to anyone. You can, for a nominal fee, order my cells, order my DNA and have at it, basically. And so in order to get to that place, I had to take an exam and read and understand and demonstrate that I understood all of the risks that I was incurring by doing that.
REHMMisha Angrist, he's the fourth subject in the Personal Genome Project. He's assistant professor at the Duke University Institute for Genome Sciences and Policy and author of a new book titled "Here is a Human Being: At the Dawn of Personal Genomics." Kevin Davies, he's science writer, editor-in-chief of "Bio-IT World" and the author of "The $1,000 Genome: The Revolution in DNA Sequencing and the New Era of Personalized Medicine." Do join us, 800-433-8850. Kevin Davies, what's the difference between a genome map and genome sequencing?
DAVIESThat's a great question. Companies like -- consumer genomics companies, like 23andMe, Navigenics -- there are several others -- offer the public a quick glimpse, a quick survey of different points in their genome. It's like the Cliff Notes version of your human genome, if you will. They look at about half a million specific letters in your genetic code, a map, if you will. It sounds like a lot although we have 6 billion letters in our total genetic make-up, so it's actually just, you know, skimming the cream off the surface. But you can learn a lot from that information. You can learn about which drugs you respond to well or you can metabolize quickly. You can learn about your potential risks of all kinds of common conditions, including cancers, heart disease, diabetes and so on.
DAVIESYou can learn about more fun, sort of recreational quirks. But I think the Holy Grail is to offer, as Misha has done, the full genome sequence where you're not just looking at predictive risks for common diseases. But you get the full enchilada, the full list of all of the variance in your DNA. And I hate to break it to everybody listening, but we all carry hundreds of genetic glitches in our genome, the break-up genes. So, you know, none of us are perfect genetic specimens, and you may want to know what you have.
REHMAnd, of course, that's the plus as well as the minus. Should you, would you change your life if you knew about those genetic glitches?
DAVIESWell, one -- certainly, in my book, "The $1,000 Genome," I give a fair number of examples of other people who have done this and what their reaction has been. And there have been some very positive examples. Sergey Brin, the co-founder of Google, is one of the more notorious examples. He learned that he carries a genetic marker for Parkinson's disease. He knew he had a family history of the disease. But, until his wife started this company, 23andMe, there was no really easy way to figure out whether -- what his precise risk might be. That risk is now put at roughly 50 percent because he knows he has this particular variance in his genetic code.
REHMSo what good does it do him?
DAVIESWell, he can't -- there might not be a drug that he can take to ward off Parkinson's disease right now, but he has written that he can change his lifestyle. He can live and eat more healthfully. Moreover, he has some resources that few of us have, that he can now fund research through the Michael J. Fox Foundation and other things, so he's boosting Parkinson's disease research in a way that few of us could possibly dream of.
REHMHmm, interesting. Then the other question is, how does one go about getting this sequencing? Is it through saliva? Is it through blood? And what are the differences?
DAVIESYeah. Yeah. Tens of thousands of people who have done these consumer genetics tests -- that's just simply spitting some saliva into a tube and mailing it off to a company in California. There's an Icelandic company as well that does this, but you can go -- anybody listening today can go to their doctor, say they heard this fascinating segment on "The Diane Rehm Show," say, I want to have my genome sequenced. Your doctor will look at you as if you've got two heads. But if you talk to them nicely, they may -- and they agree to write you a note, you can have your full genome sequence next week by a couple of companies. Illumina in San Diego is one, Knome in Boston another, George Church production, is another.
DAVIESYou do need the doctor's note -- at least for the Illumina's service -- and it will cost you. Insurance won't pick this up, at least not yet. It's about $20,000. You know, that sounds like a ridiculous amount of money, and it is, except when you remember that, you know, the first person to have his full genome sequenced a few years ago, Jim Watson -- the man who co-discovered the double helix -- it cost him a million dollars -- well, not him personally. But it cost the company a million dollars, so the price is just in free fall.
REHMFree fall to where?
DAVIESFree fall to the $1,000 genome.
REHMTo the $1,000 genome. Tell me why you decided, Misha, to take your personal genomic information public?
ANGRISTWell, I think it goes back to what I was saying before, and that is my experience working in a genetics lab, studying human genetic disease and, to some extent, having my hands tied. Until our lab was able to jump through the various regulatory hoops, we were studying a disease we -- and other people identified -- it was actually published in a journal that Kevin used to edit. We identified a susceptibility gene that seemed to confer risk to Hirschsprung's disease, which is a congenital birth defect -- affects about one in 3,000 newborns -- and we knew we had this information. And we wanted to be able to share it with families and...
ANGRISTWe did eventually, but we want that process to be easier.
REHMShort break. We'll be right back.
REHMAnd joining us now to talk about growing public access to personal genome sequencing, bioethicist Arthur Caplan of the University of Pennsylvania. Good morning to you. It's good to talk to you again.
DR. ARTHUR CAPLANHi, Diane.
REHMTell me about your reservations about this kind of genetic testing and personal genome sequencing.
CAPLANWell, I have a number of reservations, although, to -- let me be clear. I'm not opposed to using genetic knowledge to guide our healthcare. I just think it's a little premature right now. First, we do have the genome sequence mapped, but we haven't made a lot of the associations between individual genes and the genes that different ethnic and racial groups have. In other words, the association studies are often done on a few thousand people, usually Caucasian people. If you're a Native Indian or a person who's Japanese American, we don't really have great association studies for the general public yet. So that's a limit on who can really benefit right now from getting their genes analyzed.
CAPLANSecond problem is that we don't really have all the variation nailed down and the interaction of our genes. So, yes, we could certainly see some genes that are responsible for major diseases. But if you have a family history of breast cancer or prostate cancer, you're a much better candidate for genetic testing right now because we can tell you that that in itself is indication that there might be a gene there and then look for it. General public testing -- the kind of thing that's up on the Internet or that many companies are promoting that everybody ought to go out and get their genes analyzed -- I still don't think we've got that nailed down yet in terms of the specifics of how all our genes interact. It's coming, but it's not there yet.
REHMTell me what the -- what your concerns are about the psychological impact of, say, knowing that there's breast cancer history in a family, then having this genomic testing, finding out you do have the gene. What is the impact of that knowledge?
CAPLANWell, that's a great question, Diane. And it gets to the point that we haven't established yet, that we shouldn't be doing testing without counseling. Our doctors aren't really ready yet to counsel people about genetic information and, indeed, a lot of our social workers, psychologists, they don't really know yet how to explain risk factors. Let me give you a little story that'll highlight the point behind your question. We had a man come here who wanted to test his 13-year-old daughter because there was a lot of breast cancer in his family. And we said to him, well, you can test your 13-year-old daughter, although maybe it would be better to wait until she becomes an adult and decides whether she wants to know or not herself.
CAPLANWe don't have much to offer now. And he said, look, if that 13-year-old daughter of mine tests positive, I'm going to have her breast buds removed because I don't want her to face what other people in my family -- other women in my family have gone through. Well, that just startled us. We had never thought of someone prophylactically preventing breast development in someone who might be at risk for breast cancer. So the emotional stakes -- if someone says, you are highly at risk for Alzheimer's or Huntington's disease -- are huge, and I think right now it's irresponsible for anyone to be doing testing without counseling.
REHMWhat do you think then about the mass marketing of these tests?
CAPLANMass marketing right now, to me, is a formula more for confusion. Some sites are up there on the web. You can see them saying, spit in a cup. I call this field of mass marketing spitomics. It's spitting in a cup with your saliva and sending it off somewhere, and companies will say they'll tell you who their ancestors are, although the science does not yet support that. And they'll tell you that they can design a diet to fit your genes. Science doesn't support that. And they'll tell you they can give you information, say, about managing drugs that you might take. There is a bit of science there.
CAPLANBut it's pretty weak, and it's confined to a couple of drugs right now in terms of saying, if you take Plavix or Coumadin, we could tell you whether you're going to be a high metabolizer or not. There's a little bit of information there, but not much. So when you send that DNA off, you don't know who's going to control it, you don't know how private they're going to keep it. And I will tell you flat out, Diane, the things that you could do for the most part to control your risks, you could do anyway. Lose some weight, exercise, sleep more. It's not a big rocket science list.
REHMBut what about insurance companies or employers and whether they might be able to use this information?
CAPLANWell, that's why I mentioned you don't know where you're sending it off to.
CAPLANYou don't know how private...
CAPLAN...it's going to stay because other third parties -- let's say one of the genetic testing companies is bought by somebody else, maybe even a healthcare company. Are they going to be able to look at your DNA samples and extract information about your risk factor? We did pass some legislation -- GINA, it's called -- which restricts the use of genetic information in writing health insurance. But in terms of employment, disability insurance, life insurance, there are a lot of areas where you still might be penalized if people got a look at your DNA.
CAPLANAnd one more thing, Diane, when you get genetic information, here's how it's a little different from other kinds of information about yourself. Your relatives are affected. That is, if I'm at risk of Disease X, then my biological relatives may be. And so you have to address the question, if I know something, should they know something? And that's also part of that need for counseling.
REHMDr. Caplan, I'm utterly stunned by your story about the 13-year-old. And, you know, the idea of a father making such a decision for a 13-year-old youngster is hard for me to comprehend and whether that sort of mars that child's entire life or...
REHM...on the other hand, whether, as the father implies, it saves her life.
CAPLANWell, I don't think there's any reason to do anything at 13, that that young woman couldn't decide to do when she reached 18, 21 or beyond.
REHMAnd made the decision for herself.
CAPLANSo our policy changed here. We will not offer testing for children unless we have some kind of therapeutic option that we think has to be done when they're a child. But that isn't part of the rules of genetic testing and how genetic information is being used now -- and, again, Diane, no requirement that you get counseled. So you can be made terribly afraid of a small genetic risk -- let me give one other story. I had a woman come for breast cancer testing here at University of Pennsylvania, and she didn't have the gene after being tested -- that was good -- for breast cancer. Her sisters did, but she had dodged that bullet.
CAPLANBut she smoked three packs a day, and she was about 50 pounds overweight. And I can tell you that those are huge risk factors for breast cancer. But if we didn't counsel her, she would've thought, well, I'm not at any risk of breast cancer 'cause I didn't get that gene.
REHMAll right. Dr. Caplan, do you want to stay on the line with us...
REHM...for a few moments? Good. Let's turn back to you, Kevin Davies. First, Dr. Caplan talked about the general public and the variations among different races, different ethnic backgrounds. I gather this is a work in progress.
DAVIESAbsolutely. I think, although it's been phrased a little differently, we're in pretty large agreement on many of the things that Dr. Caplan brought up. This field of consumer genomics really only got going a few years ago. 2007 is when the first of these companies -- I'm not talking about nutrigenomics -- we'll put that to one side. We don't buy the whole diet and genes thing. But that really only got going in 2007, and, as Dr. Caplan said, we need much more research to pinpoint the gene -- all of the genes that are associated with these common diseases that we mostly care about, the diabetes and heart disease and obesity and so on.
DAVIESAnd, as he rightly points out, we need to do a lot more of these types of studies in non-Caucasian populations. Most of these -- most of the big genetics papers from the big groups, the big genome centers are published based on studies in European and North American populations, so all that is fair game. I think the -- as far as counseling goes, again, no one is going to argue against counseling. The company I mentioned a little earlier who's offering full genome sequencing to consumers will make sure that you do it through a doctor's office. There -- so they deliberately did not go the consumer genetic route where you just order this over the Internet because you happen to have $20,000 burning a hole in your pocket.
REHMDo I understand correctly that the FDA has gotten into this field of consumer genetics?
DAVIESAbsolutely. A lot of hearings and a lot of interest. Perhaps belatedly, one might say, because one of the consumer genomics companies called Pathway tried to put its kits into Walgreens about six months ago. And the FDA didn't like that and said, no, you can't do that. And so we're talking about consumer genomics, so for the most part, many of these companies now are working in ways that the FDA probably would not particularly be concerned about because they're working either through physicians' offices or through corporate wellness programs. They're not marketing these directly over the Internet, for the most part.
REHMWhat about genetic testing going on right now for newborn babies?
DAVIESWell, that goes on, you know, every day in every hospital around the country. We test newborns for about 40 or 50 different genetic diseases. We do something called the Guthrie heel stick test. That's been a routine part of medical care...
REHMFor years and years.
DAVIES...in this country for decades. Absolutely.
DAVIESWhether down the road we might expand that because here -- right now, if we take as a given this $1,000 genome premise, you could do a whole genome sequence for pretty much the same cost as it takes right now to just look at one or a handful of genes. So from a cost perspective, there isn't a whole lot of disincentive not to do the whole gene sequence.
REHMWhat about that, Dr. Caplan?
CAPLANWell, it's interesting, Diane. The newborn testing is built on the assumption that will test for things we can really step in and do something about. Say a baby has a hard time digesting milk protein. And we want to get him on a soy-based formula, so they don't get brain damage. We're all familiar with that PKU disease.
CAPLANThat's part of the strategy there, and I think that makes sense. The -- when we have a therapy, we want to make sure we urge testing. But it's interesting. The state of Texas had kept all those blood samples from every baby probably for the past 30 years. Just last year, the public began to understand that they were using those test samples in research -- nothing dangerous -- just to monitor the incidence of genetic diseases in babies in the State of Texas. Anonymous, almost, not identified. People got so mad at the idea that they had saved the samples without consent, that the state of Texas has thrown away the entire blood samples from the past 30, 40 years.
CAPLANNow, I'm not arguing that's a good thing. But what I believe it shows us is if we aren't careful about getting informed consent and good counseling -- when you hear about companies going into Wal-Mart to sell things over the counter, that's not a counseling-based genetic testing program. When your doctor doesn't understand the genetic information and can't really give you a good informed consent, it's trouble because the public will quickly be suspicious that there's more harm than good here.
REHMBioethicist Arthur Caplan, he's with the University of Pennsylvania. You're listening to "The Diane Rehm Show." Misha Angrist, you had a genetic illness in your family. Tell us about that and what the genome sequencing did for you.
ANGRISTWell, as far as that specific illness goes, it's -- I suppose my having my genome sequence gave me a little bit of probabilistic information. But, for me, it was much more getting my mind around it at a personal level because in 2005, my nephew was born with Hirschsprung's disease, which was the disease I spent about seven years of my life studying. So, you know, that raised various sorts of existential questions for me, less so than scientific ones or even medical ones. Fortunately, Hirschsprung's disease is surgically treatable, and I think my nephew's gotten excellent care. And understanding the genetic basis of what's going on with him is not terribly important to his parents and nor should it be.
REHMHad anyone else in your family had that gene?
ANGRISTNo. Not as far as we know, and most cases are spontaneous. They're new.
REHMAnd would that mean that that child's offspring could possibly carry that same gene?
ANGRISTAbsolutely. Very, very possible.
REHMSo you're concerned about him, but pleased that you'd both done the research. You know what it's all about.
ANGRISTMm hmm. Yes. So in my own genome, I was found to carry a mutation for Fanconi anemia, which is a terrible, but, fortunately, very rare childhood illness, which means my young daughters, potentially, are carriers as well. And, I think, when the time comes, my wife and I will have a conversation with them about things that they may or may not want to know.
REHMAnd, Dr. Caplan, that is precisely the issue that comes to mind for me. As you have said, Kevin Davies, all of us have some glitch, and part of being human is being imperfect. So that if we concentrate on the imperfections as opposed to living the life we have, isn't there a little problem there?
DAVIESMy view is if you don't want to go down this road, please, live your life.
REHMDon't do it, yeah.
DAVIESExactly. If this is going to kind of -- if you think, I don't know if I can handle this information, then, for God's sake, go live your life and ignore these issues. But, you know, down the road -- that may be your opinion now. Ten years later your -- you may have a child, or your child may have a child, and this issue could come up in a different context. Or as you get older, you may start to worry about other kinds of diseases that, while you're in your teens or early adulthood are of less concern.
CAPLANWell, I think when you feel you can take action to diminish risk, that's when you're going to get interested in genetic testing. So if we really do expand -- and I think we will -- the way in which we understand how drugs interact with us to cause adverse events or problems or benefits, that will help us do more genetic testing. But if we can't do much about risk, I think people aren't going to run over and spit in a cup yet.
REHMArthur Caplan of the University of Pennsylvania. We'll be right back.
REHMAnd welcome back. We're talking about genetic sequencing, what that information can give us, how it's used and who may use it for what purpose. Just before the break, Arthur Caplan of the University of Pennsylvania made the statement, Misha, that he felt unless a person could be helped or treated with the information obtained by the genetic sequencing, he wouldn't be so much in favor of it. You had a response.
ANGRISTWell, I think helped is in the eye of the beholder. I view my genome sequence as a savings bond, essentially. I have it. I'm probably not going to do much with it, but I fully expect that it will be useful at some time in the future to me and to my family. And, I think, if somebody does not want to learn that they are at, say, three-fold or 15-fold higher risk of developing Alzheimer's in 20 or 30 years, as Kevin said, by all means, they should not learn that. That said, people may want to enroll in drug trials. They may want to plan how they want to live their lives.
REHMBut is the information one gleans from genetic sequencing that is currently available, will that point to Alzheimer's, Parkinson's or any of the other neurological disorders?
DAVIESWell, with regard -- most neurological disorders, I think the root cause of those is still a big mystery. There's a lot of environmental factors that inevitably play a role, but as Misha mentions, Alzheimer's Disease -- there's one particular gene on many of these platforms that you can look for called APOE, that is really quite predictive of the overall risk of developing Alzheimer's Disease. And that's one that when Jim Watson was sequenced in 2007, he specifically asked not to be told the identity of which variant of that gene he had inherited because he didn't want that bit of too much information.
DAVIESHe did not want to know...
DAVIES...even though he was nearly 19 years old, whether that was a disease that he might -- he might have to worry about in his final years.
REHMNow, Art Caplan, how do you respond?
CAPLANWell, I'd say two things. I do believe there are people who would want to know information about themselves just because it's their information. I just don't believe it's going to be a good business model. I don't think it's going to lead to hordes of people running out there saying, yeah, I'd just kind of like to know my genome sequence. The other thing I'd say is this, I said I thought the future is brighter as we start to learn how to intervene or treat or modify things. I'm a little nervous, Diane, that when we start staying, you know, I have a genetic risk for this or a genetic risk for that, we shouldn't forget that there are a lot of cultural and environmental factors that contribute to these risks.
CAPLANTake obesity. I might find out that I'm inclined to, you know, have a taste for sugar or metabolize fat more than the next person, and so I'm at risk for obesity. But I'm also at risk for obesity if I drive home, and I have to pass by 11 fast food places before I get there. So we don't want to put the burden, as we begin to learn about our genes, for responsibility, for health just on ourselves -- although I certainly understand there's a role there. But there are a lot of things going on that affect our health that we don't have control over that are "out there." And I'm slightly nervous that all this genetic reductionism talk is pushing us toward, it's your fault if you have disease X, Y or Z.
REHMAll right. We'll open the phones now. First, to Wichita, Kan. and to Sue. Good morning, you're on the air.
SUEGood morning. I want to say that nobody has touched on reducing risk for future generations yet. I think this has broad ramifications for adoption law and closed records. Would you respond to that, please?
REHMWhat do you think, Kevin Davies?
DAVIESI don't know a whole lot about adoption law, but one area that is sort of allied to what we've been talking about is the emergence of companies that will allow parents or people considering starting a family to really take a complete sort of infantry of their genetic risks, looking at more than 100 different genes, so that you can see and match up what you're a carrier for with what your partner's a carrier for -- as Misha eluded to a little earlier, with a rare disease called Fanconi anemia. There's a company in California called Counsel that is offering this. Now, it's very affordable, so for people who really -- yeah, because of something they've known in their family history, perhaps, this is something -- this is something they can do right now.
REHMArt Caplan, what about adoption?
CAPLANYeah, well, this caller is on a very important point. When you do genetic testing these days, one of the things that jumps out at you very clearly is when you have the same genes lined up for long stretches of chromosomes, and that means incest. It means some kind of interbreeding, either that the person may be aware of in their past because of rape or assault or maybe that they didn't know because they wound up being the product of a marriage between people who were, let's say, children from the same sperm donor.
CAPLANI think adoption and infertility treatment is going to be pushed by new genetic knowledge to end closed adoption and to end the secrecy of sperm and egg donors. People are going to expect that if they want access to their genetic information and they're going to use it down the road to guide their health, they're going to have to know who their parents are 'cause that's a key part of doing genetic analyses. And so, I think, the caller is basically saying, the world we used to live in where if you got adopted, you didn't know much about your birth parents, or if you were a child of an infertility process -- sperm donation -- I think we shouldn't be telling people who are sperm and egg donors they're going to have their privacy. I don't believe that's true. It will collapse.
ANGRISTI think that day is already here. A few years ago, a 15-year-old donor-conceived boy, very precocious, used a combination of genetic testing and very clever online genealogical searching and found his biological father.
ANGRISTAnd this is already going on, and I think people forget sometimes that these are, in many cases -- if not most cases -- single women who are interested in knowing as much as they can about their donors.
REHMHere's an e-mail from Kurt in New Jersey, "Is there a danger of personal genetic material being patented without any financial compensation to genetic donors?" Had you thought of that, Misha?
ANGRISTAbsolutely. I actually spend a fair amount of my time thinking about this question. Gene patents have been around for a few decades now, and the courts have consistently ruled, at least until fairly recently anyway, that once your tissue or DNA leaves your body, you really have no property rights to it. And the courts have consistently said if we start cutting patients and donors in on the action financially, then this is going to hurt the fragile biotech industry.
REHMWe've had a number of callers, e-mails wondering about the movie "Gattaca." Kevin Davies?
DAVIESYeah, "Gattaca" is a 1997 sci-fi movie with Uma Thurman and Ethan Hawke, and it's often trotted out when we discuss sort of the future of genetic technology. It portrayed a society where sort of the haves have all been genetically screened and sequenced, and they're in control. And there's that sort of an underclass of mutts who have reproduced the old-fashioned way, you know, the fun way. For the most part, I think, that's -- that is science fiction. And what we're talking about is simply giving empowerment and information to people to learn about their -- we were just talking about adopted individuals. They find this very useful because they learn something about their ancestry as well as their health traits that they may not get from their adopted parents.
CAPLANDiane, can I comment?
REHMSurely. Go ahead.
CAPLANI don't think it's so science fictioney, (sp?)"Gattaca." I'll tell you -- I know you don't want me driving you crazy with these little case stories. But we had a couple -- this is years ago now -- come in, both of them deaf due to genetic defect that each had, and they wanted to get genetic testing of their embryos. And we said -- or a counselor said -- I didn't say it -- oh, that'll be good, you can avoid deafness. And they said, oh, no, no, no, we want to pick an embryo through genetic testing because we want a deaf child just like us.
CAPLANSo we faced the question, sometimes if someone has congenital dwarfism or other ailments, not everybody sees them as an ailment. Would we do whatever the parents want...
CAPLAN...in designing a child?
CAPLANAnd I'll go further. I think, right now, we're talking diseases, but soon we will start to be talking about traits that people desire and not so much in testing ourselves, but in testing our embryos or our gametes. There is an aspect that we're going to have to face of how far we go in using that information to design our descendants.
REHMLet's go now to San Antonio, Texas. Good morning, Ann. You're on the air.
ANNGood morning, Diane. I would like to share how my doctor reacted to two of the results from 23andMe that I shared with her. And my doctor was in research as a PhD researcher and finally decided she wanted to work with patients, so she went back and got her medical degree. So she may look at all of this differently than a normal doctor. But she was extremely pleased to know that I am very sensitive to Coumadin, which we would not have known before, and that could make a difference 'cause I do have heart problems in the family.
ANNAnd the second thing, I had a paternal member of the family also test, and we discovered that on both sides, I am very highly at danger for bladder cancer. We never would've known that. It didn't scare me to death. What it did was make my doctors say, we're going to start monitoring that with tests that would not have been done before.
ANNSo some of us can look at this rationally.
REHMThanks for calling, Ann. Misha?
ANGRISTWell, I think the caller makes a good point. And the broader point is that, yes, we have these anecdotal stories of harms and potential harms. We're also starting to accumulate anecdotal stories of benefits. I have a colleague who recently gave birth and had 23andMe during her pregnancy.
REHMWhat is 23andMe? Identify that.
DAVIESWe touched on them earlier. It's the company founded by the wife of Sergey Brin, the co-founder of Google.
DAVIESIt's arguably the most preeminent and -- of these consumer genomics companies. Yes.
REHMOkay. Forgive me. Okay.
ANGRISTSo she -- from that test, she learned that she was at higher risk for thromboembolism and shared that with her OB/GYN and was put on a blood thinner. Now, we can't know the counter-experiment, what would've happened to her pregnancy had this not happened, but it was deemed to be a medically justified intervention. And there...
REHMI hope she had a healthy child.
ANGRISTMom and child are doing fine, as far as I know.
REHMI'm glad to hear that. To Dan in Syracuse, N.Y. Good morning. You're on the air.
DANHi, good morning, Diane and guests.
DANI am 56. My father has pancreatic -- it was caught at an early stage, so he's been in chemo and radiation, and they've successfully gotten it shrunken down a lot. But both of his -- he's the baby of the family. His two oldest siblings both died of pancreatic cancer. So, I guess, I'm wondering, should I do anything to be checked?
DAVIESI don't recall that pancreatic cancer we know enough about the genetics of the disease right now at the end of the 2010 to be able to just, you know, make a conclusive diagnosis from spitting in a cup. But it certainly sounds from the caller's story that he may want to, you know, talk to some of the top cancer docs and -- well, if you're in Texas, there's great people in Dallas and Houston. Go for second and third opinions if you have to.
REHMAnd to Katie in Cincinnati, Ohio. Go right ahead, please.
KATIEIt's such an honor to talk to you.
KATIEI was just calling -- I recently, just in the past month, was diagnosed with an MTHFR gene defect. My sister found out yesterday that she is also positive for this defect. And my concern was I feel that my physician ordered this test and the results came back, and he really didn't have the information to then tell me what to do with this knowledge. So I think that the knowledge is power, but a lot of physicians are ordering these tests and really don't know what to tell you when they come back positive. We've now -- and that was four different physicians, and they've all had different opinions about...
KATIE...how to treat X, Y and Z and, you know, different kind of thoughts because the research is so new. And that's been a really big problem and caused a lot of anxiety for my sister and I this week.
REHMI'm sure. Kevin?
DAVIESYeah, it's a great question, great point.
DAVIESAnd it will be a problem for years and years to come because, yeah, most of our GP's and our physicians, they went to medical school 10, 20, 30 years ago. I mean, they would've learned virtually nothing about DNA. They can spell it, but they don't know a whole lot about what the genome entails. And that's going to be an issue. The information is coming along so fast.
DAVIESThe technology is so fast, that the problem -- the bottleneck now is increasingly how do you turn 6 billion letters of DNA into a sort of a red light, green light decision that a family physician can provide some meaningful guidance to their patient? And how is that then communicated? How does the doctor fully integrate that information into medical care?
REHMSo, Art Caplan, it would seem medical schools have a real challenge on their hands.
CAPLANI strongly agree with that. I think that we have to start to teach not only our medical students, but our pharmacists. They're the ones we go to sometimes for advice about drug...
CAPLAN...interactions, and am I at risk if I take Coumadin, or how am I doing with my Plavix. These are tests that are coming. And, I mean, some are here now, and more are on the way. Our genetic counselors need to be expanded.
CAPLANEven our nurses have to get involved with this. So we got a real educational job on our hands if we're going to (unintelligible).
REHMAnd one last quick question from a listener. Robert wants to know quickly, what development brought the cost down from $1 million to $20,000? What development is needed to bring it down to $1,000 and lower, Kevin?
DAVIESYeah, it's this field of next-generation sequencing. We're making DNA sequencing -- we're doing it smaller, we're doing it in parallel, and the next wave of technologies will get it down way below $1,000.
REHMKevin Davies, science writer, editor-in-chief of "Bio-IT World," Misha Angrist, fourth subject in the Personal Genome Project. He's author of "Here is a Human Being." Kevin Davies has written "The $1,000 Genome." Arthur Caplan of the University of Pennsylvania, thank you all for a fascinating discussion. Thanks for listening. I'm Diane Rehm.
Most Recent Shows
Secretly-recorded videos have reopened the fight over federal funding for Planned Parenthood. We examine new hurdles for the organization, the political response and the latest in the battle over abortion rights in the U.S.
A novel about Vivian, a young Irish girl sent by rail from a New York City tenement to Minnesota in the early 1900s. She was one of thousands of abandoned children sent to live with rural families for a better life. But not all ended up in loving homes.
An estimated 11 million Americans could see their disability benefits slashed next year if Congress fails to take action. The White House and Republican lawmakers have opposing solutions. Social Security's disability fund and how to keep the program solvent.