Diane speaks with Dr. Roger Kligler who is living with advanced stage cancer on why he's suing the state of Massachusetts for the 'Right to Die' and with Dr Jessica Vitter, and intensive care and palliative care specialist on why better communication is so needed between doctors and patients facing end-of-life issues.
When the human genome was mapped a decade ago, the ability to uncover our genetic secrets became a reality. But for many years, the price of accessing genetic information for individuals was sky-high. Now, technology has rapidly advanced and numerous companies offer personal genetic testing for a few hundred dollars. A simple saliva test can reveal genetic links to certain diseases, health conditions and ancestry. And a California company was recently awarded a patent for a process that would allow parents to select traits like hair and eye color for unborn children. Diane and a panel of experts discuss the science and ethics of personal genetic testing.
- Marcy Darnovsky executive director, Center for Genetics and Society
- Kevin Noonan partner, McDonnell Boehnen Hulbert & Berghoff and founding author, Patent Docs blog.
- Jeffrey Kahn professor of bioethics and public policy, Johns Hopkins University Berman Institute of Bioethics.
MS. DIANE REHMThanks for joining us. I'm Diane Rehm. Personal genetic testing is getting cheaper and easier. Simply DNA saliva kits can be purchased online that test for more than 2500 diseases, but experts warn the results can be hard to interpret without a doctor's guidance. Some fear these tests might be used to select desired traits for unborn children. Joining me to talk about the science and ethics of personal genetic testing, Jeffery Kahn of Johns Hopkins University and Kevin Noonan, an attorney specializing in biotechnology patents.
MS. DIANE REHMJoining us from a studio in Berkley, California, Marcy Darnovsky of the Center for Genetics and Society. I'm sure many of you will have questions. Do join us. 800-433-8850, send your email to email@example.com, follow us Facebook or send us a tweet. Welcome to all of you.
MR. JEFFREY KAHNThank you for having us.
MR. KEVIN NOONANThanks, Diane.
MS. MARCY DARNOVSKYHello.
REHMGood to have you all with us. Jeffrey Kahn, I'll start with you. Talk about personal genetic testing and how it's evolved over the years.
KAHNWell, that's a great question and a great place to start. The real beginning, I guess, is when the Human Genome Project, a large government-funded effort to sequence the entire human genome, took place in the 1990s giving us effectively the code that we then needed to figure out what it meant to individuals and to our children. Once we knew how to do genetic testing, parents had the option of using those technologies to help most avoid disease in their future children.
KAHNSo think of cystic fibrosis is really the case example, which is the most common inherited genetic disease. Still not many people are affected, but it's the most common. And using a technique called preimplanation genetic diagnosis, individuals were able to create embryos in vitro, in a Petri dish, so sperm and egg mixed together and then a single cell removed from that developing embryo and genetic testing performed on it, and doing that could choose which embryo to implant in the woman's body to hopefully have a child.
KAHNSo that way you know whether the embryo has or doesn't have the genetic risk that you're worried about, and you avoid implanting the one that would have that genetic disease. So that's been around for 20-plus years. Over the course of succeeding decades, we've just refined those techniques into all sorts of, um, applications. So not just in reproductive, uh, genetic testing, but in individual genetic testing all the way to the current world where we have effectively have direct-to-consumer genetic testing where you can send away for a kit, give your credit card number to the company. They'll send you back a kit in the mail.
KAHNYou do a cheek swab. That's all it takes it a few cells from your cheek. It goes back to their laboratory and they will tell you to the best of their current abilities what your genetic code predisposes you for in terms of disease, predisposition, health risks of all kinds. Now whether that's really informative is what we should talk about.
REHMAnd tell me about the story of Molly Nash and why that was important.
KAHNSo Molly Nash still -- now a teenage girl, but was a young -- a little girl born to a couple in Denver, Colorado named Jack and Lisa Nash. This is a public story. She was born with an inherited disease called fanconi anemia, inherited because both of her parents had the gene but were not affected. They both passed on the mutation, and she was born with this inherited form of leukemia. The only way to treat that leukemia was through a stem cell transplant.
KAHNWe used to call that a bone marrow transplant, but now that can be done with an umbilical cord transplant. And to the parents got the idea, truly on their own, to use the technology that I described before, PGD, to create an embryo that was not only negative for fanconi anemia, the disease that affected Molly, but that genetically matched to her, so that baby, when it turned out he was born, could be a cord blood donor to his sister and help save her life through a cord blood transplant. That was in fact what happened.
KAHNThe baby boy was named Adam. His cord blood was collected, named that way for the reasons that you might think for the Biblical story of Adam and Eve where a piece of Adam was taken to create Eve. So Adam's cord blood was collected and used to transfuse -- transplant into Molly and save her life. The best-selling novel by Jodi Picoult, called "My Sister's Keeper," was actually a fictionalized account of the Nash story.
REHMWasn't there a fair amount of discussion after that happened?
KAHNThere was a huge amount of discussion that happened when that happened. It was a case that took place at the University of Minnesota mostly, which was my previous employer, so I got quite involved in the discussion running up to the birth of Adam and then the subsequent concerns that that kind of application of genetic technologies raised more generally for society.
REHMJeffrey Kahn, he is professor of bioethics and public policy at Johns Hopkins University, Berman Institute. And now turning to you, Marcy Darnovsky. I gather that the Nash case led to the company known as 23andMe. Can you talk about that and how 23andMe has moved onto a discussion about the creation of so-called designer babies?
DARNOVSKYWell, let me try to tackle that one and start maybe where Jeffrey Kahn left off. I don't know about any direct connection between the Nash case and the company 23andMe. But what 23andMe has done that's been in the news lately is it -- actually, it happened five years ago or so that they applied for a patent, and recently were awarded this patent that would supposedly allow parents to screen -- get genetic samples from sperm donors or egg donors with whom they were going to try to make a child, and from 23andMe get results depending on what kind of traits they wanted in their child, about which of those (word?) donors they should choose.
DARNOVSKYSo in other words, 23andMe's patent application had these drop down menus where the customers could select the child's hair color and things like longevity. It was a whole mishmash, which is similar to what 23andMe's offerings are for my cells or your cells of medical information or medical data that supposed to be medically interesting, and what you might call recreational data or cosmetic data, hair color, what kind of ear wax do you have.
DARNOVSKYSo it mixes all these things up and gives you these drop down menus to select the traits of your future children. And this really seems to have struck a nerve and made people uneasy for a couple of reasons. And I think the first one is that people don't much like the idea of designer babies. They don't think that we want to have relationships between parents and children that are in any way similar to the relationships between car customers and the accessories you might buy on a car.
DARNOVSKYAnd here in all the things we've talked about so far, we're talking about designer babies in the sense of selecting from embryos and choosing the child you want based on the selection of (word?) or embryos. But if we start talking about not just selecting, but actually going and modifying genes that are passed down to children and passed down to all future generations in this irreversible way, I think that really even ups the ante -- it does up the ante and it makes people very, very nervous about...
DARNOVSKY...getting into the kind of world like -- that we saw in the movie "Gattaca," this world of new kinds of inequality.
REHMAll right. Jeffrey Kahn, let me go back and ask you about the connection between the Nash case and the development of 23andMe, which is the company you talked about where people can send of, or order this kit which will test their saliva.
KAHNSure. So I think as Marcy said, it wasn't a point-to-point connection, but in fact, 23andMe is just one of many companies that now offer personal genetic testing as you called it, and that technology really developed from very limited -- we know a few genetic mutations that we want to test for that predict for disease, to being able to sequence the whole human genome. And we're now on the cusp of doing even more than what 23andMe and their like do, which is to do full sequences of every individual who wants to pay for it, and we're getting close to the thousand dollar price threshold for that.
KAHNSo 23andMe does something a little more scattershot called genome-wide association studies. They don't actually sequence your entire genome. But that's going to be available quite soon, and so you can easily trace the technology and its applications from examples like the Nash case where the family was able to identify a disease that was going to affect their future offspring and help to avoid it, and at the same time save their daughter to the widespread application of predictive genetic testing of the kind Marcy just described and that you're asking about.
KAHNSo it's really a function of the development of the technology. And the question will be what comes next. What is 23andMe going to offer next. So this drop down menu on the web is one example of what they may offer next or may not, and we could see lots of other kinds of examples, and one of the things I should say before I stop here about the Nash case, is it was not something we predicted. So the people who do this for a living in academe didn't see the Nash cash coming.
REHMAll right. When we come back, we are going to talk about the broad U.S. patent that 23andMe was recently awarded that could be used in fertility clinics to create babies with selected traits. Short break here. I'll be right back.
REHMAnd welcome back. We're talking about the rapid growth and development of genetic testing, how it's being used not only to pinpoint various potential for disease, but also now being used to perhaps define the type of child one would like, right down to color of eyes and color of hire. Kevin Noonan, I know you've been involved in this patent process. Some believe that the patent extended to 23andMe was not only too broad, it came too soon. Talk about what you see as the justification.
NOONANWell, the interesting thing about patents, of course, is that they are required not to use some kind of patent because you apply for one. You actually have to disclose the invention that you claim. And so one of the benefits of the patent system is that disclosure, as opposed to keeping things straight as a secret. So the benefit to the public is you actually, now everyone knows what 23andMe does and how they do it.
NOONANYou raise an interesting question about whether it's too soon. Philo Farnsworth famously invented television about 30 years before it was possible to have television. So you have these instances where people apply for patents more -- earlier than they should in the process. But I think 23andMe, if you read their patent, was very specific. They used green eyes and brown eyes and such.
NOONANBut there were congenital heart defects and colorectal cancer and a number of other types of these traits, which is probably the focus that they intended the patent to have while still giving them the room, if you will, to expand the genetic knowledge to where, okay, we could do things like eye color or hair color and that sort of thing. So I think that where 23andMe is coming from is they have now disclosed this way of doing what many people would want to do if we're going to have technology to have babies made in anything but the old fashioned way.
NOONANYou know, if we're going to have in vitro fertilization, if we're going to have a place where you can select the gametes that are put together to make a baby and that's something that we do have, nothing to do with patents. Well, now, when you go in, you ask questions. I mean, these phenotypes of hair color and eye color and family history and any as part of the intake when they take the donors in the first place. This is just the way to extend that using genetic knowledge to maybe refine it in a way to make it a little bit more accurate.
REHMMarcy Darnovsky, so what do you see as a problem with what 23andMe is doing?
DARNOVSKYWell, I think a problem is two-fold. One, it's scientifically dubious at this point and for a long time in the future that most of these kind of traits can be selected in this way. And then the flipside of that, in a strange sense, is that it's socially treacherous because it normalizes this idea that we should be selecting the traits of our children, which I think is a terrible, terrible idea for reasons about family dynamics and larger social reasons about getting into the kind of situation we were trying to breed so-called better babies.
DARNOVSKYSo, you know, we want patents to encourage invention and innovation. That's what they're supposed to do. But I think we do need to look at the kinds of things that patents awarded for. And, you know, when the government gives you a patent, it's a kind of implicit sign of approval that this is the kind of invention that we want to encourage. And I don't think this is. I think this is the kind of invention that we should not be encouraging at all.
DARNOVSKYAnd that's why my organization, the Center for Genetics and Society was really happy and very pleased to hear 23andMe say that they had no plans to develop this into a product or service. And we ask them to really step up to the plate and show themselves to be responsible by saying that they have no intention to develop such a product or service in the future. And that, furthermore, that now they have this patent, they can use to prevent other companies from doing this.
KAHNWell, of course, the other side of that coin is that we may worry about someone selecting for the next Michael Jordan or for having blonde hair, blue-eyed babies. And I understand that. But the other side of the patent is reducing the likelihood. And if you look at the patent, it's not a certainty, it's just a probability. They have an algorithm that says we can reduce the likelihood that the child will have a predisposition to -- different types of cancers or other sorts of diseases.
KAHNAnd so it seems to me that we have to recognize that there's a benefit to some of this technology, because we don't want to, if we can, intelligently reduce the probability of a child being born that's predisposed to have a particular disease, I think we should.
REHMAnd we got...
REHM...some emails already on this very point. Jeffrey Kahn, here's one from Oscar in Washington, D.C. who says: Because my wife died of colon cancer in her early 40s, I would like my children to be tested. However, I would like the test to be done anonymously to prevent possible bad marks on their records. How can we go about testing without leaving a record on the children's medical files? First of all, can their children -- can these children be tested for colon cancer?
KAHNIt probably depends on the kind of colon cancer his wife died from. But there certainly are genetic markers for colon cancer that run in families. So the answer, I guess, is a guarded yes. But that's something that Oscar should bring up with his physician. Now, it gets dicey because by introducing the medical professional, you get into this question about anonymous testing. There is now law, federal law, in the U.S. called the Genetic Information Nondiscrimination Act, GINA.
KAHNWhich was passed in the last Bush administration, which prevents the use of genetic information, like Oscar's asking about, from being used to prevent individuals from receiving health insurance or having their premiums affected by that information. Now, it doesn't protect you from, say, life insurance risk rating, although that's some -- if you know you have risk for colon cancer in your family, you have to disclose that anyway whether it's through genetic testing or just your family history.
KAHNIt doesn't protect you in the context of disability insurance risk rating either. So we're kind of in an in-between period, frankly, where we need to figure out what to do with this kind of information so that people like Oscar aren't afraid to seek it when it could really help their family decide what the right health care options are for them. But it can't be used them in ways that we would societally inappropriate.
REHMAnd, of course, the Affordable Care Act says you cannot refuse insurance because of a preexisting...
KAHNPreexisting condition, right.
REHMAll right, here's another email from Sharon in Ohio who says: My mom, her twin sister and their mother all developed dementia in their late 70s or early 80s. I'm 62 now. I intend to get tested to see if I carry the marker for Alzheimer's. I have no intention of putting my daughter through my care. Waste of money and emotion. I will find a way to exit this life before I travel that path. Death is not always the enemy.
REHMIt's a very profound email from someone who feels deeply wish not to burden her family. Are there clear markers for dementia?
KAHNWell so, again, we're getting into a really complex predictive genetics. And part of what I think people need to realize, we all need to realize is these aren't yes, no questions most of the time. So there are some genetic markers for Alzheimer's and I'm not an expert, I'm not a physician. I work in a medical setting, but it would be wrong for me to start dispensing genetic medicine advice. But clearly, we're trying to learn more about the genetic predispositions to Alzheimer's and other forms of dementia.
KAHNThis is a rapidly changing world. We'll get more information, but it will continue to be probabilistic. And it's affected by not just your genetics but by your lifestyle and your diet and your level of activity and all sorts of things that will go into whether or not you will become demented during your lifetime. End-of-life decisions is another show we should talk about altogether. But of course, it's not just genetic predictions that are important for people deciding about when their life is worth living, but all sorts of health issues...
KAHN...that people confront.
REHMOf course. And you've got these ethical considerations regarding genetic testing and whether all this information should be available early on.
KAHNWell, and Oscar's question about his children and risk of colorectal cancer is a really important one because genetic testing of children raises different issues or additional issues than does genetic testing of adults because children can't make decisions for themselves and those kinds of -- that information will live with them their entire lives. Now that said, we do genetic testing of every child, almost every child is born in the U.S. through a hill stick and a blood spot.
KAHNAnd the NIH, National Institutes of Health, has sent out a request for proposals for how we should think about full genome sequencing for children and the newborn screen.
KAHNSo an entire genetic sequence for every baby that's born. So this information can follow us not just from our childhood but from our birth.
NOONANWell, keep in mind there's a difference between the Alzheimer's situation and the colorectal cancer situation because with the colorectal situation, you may be able to be proactive. You may get colonoscopies much more earlier than you would. You may have -- you have dietary things you would do. There are many ways you could follow it. With Alzheimer's, the way it is right now, it really is, if you are predisposed to it, you could essentially have this ghost over your shoulder. Every minute waiting for it to show up because there's nothing we can do.
REHMMarcy, I know you want to jump in there.
DARNOVSKYThanks, Diane. Yes. I think that these kinds of considerations are ones we really have to keep at the forefront and really put them up against the state of genetic knowledge now. And when I say that, I'm not saying that, you know, just that we're at an early stage in understanding and that is going to get more and more clear. In fact, the opposite has been happening since the human genome sequence was announced.
DARNOVSKYIt's been getting more and more complicated. So scientists are talking about missing heritability. And what they mean is that common, complex diseases, like almost all kinds of cancer, including almost all kinds of colorectal cancer, breast cancer, even though there are some important exceptions, there's not -- there are not good ways to give convincing information, actionable information about your chance of developing the disease.
DARNOVSKYWe do have -- there are some important exceptions to that. And in those cases, like the famous breast cancer, the genes that really do increase the risk of breast and ovarian cancer if you have variations in these genes, those are really important reasons to get genetic testing. And genetic testing is a very important and powerful tool. But to use it for this kind of crazy quilt combination of cosmetic traits and medical traits and in a setting where actually right now if you send your -- if you get your spit kits from three different companies and you send to those three different companies, you are likely to get back conflicting results.
REHMWow. Marcy Darnovsky...
DARNOVSKYSo we need to really be careful about this.
REHMMarcy Darnovsky. And you're listening to "The Diane Rehm Show." Jeffrey Kahn, what about federal oversight? The FDA seems to ready to step in here.
KAHNWell, we can talk about federal oversight at a few different levels. So one of the issues that I think we should point out is even the 23andMe patent doesn't really restrict the use of genetic testing in reproductive settings. It's just their particular combination of information algorithms and what you learn about eggs and sperm and mix them together in particular ways. But we've known for a long time that genetic testing is performed in reproductive medicine clinics without any federal oversight frankly.
KAHNAnd that's because reproductive medicine has very little federal oversight. And so, whatever a physician agrees to do with a couple is fair game. So it's kind of whatever the market will bear is one of the few areas of medicine where there is so little oversight and it's partly because the FDA has been hesitant to regulate or oversee the areas of reproductive technology. So the FDA oversees drugs, devices and biologics.
KAHNAnd putting human eggs and human sperm together in a Petri dish doesn't seem to fall within any of those three. And reproductive medicine, professional world would prefer that the FDA stay out of their business. And so, it's really a function of clinics offering services that people are willing to pay for out of pocket, often in experimental procedures frankly that look more like research than clinical medicine.
KAHNBut they're offered in a setting where they are paid for by individuals and almost never by insurance companies. And so it's a kind of environment that's ripe for potential problems.
REHMAnd, Kevin Noonan, this question of accuracy that Marcy raised. Do you agree with her that you might send some sort of saliva test off to three different labs and get three different results?
NOONANOh, I think that's very likely. In fact, one of the benefits and it's one of the paradoxical benefits is when you do have one lab doing it, you tend to get that lab focused on doing it right. And so Myriad is an example. In all the brouhaha about the Myriad gene testing, nobody ever said they made mistakes. And that's because they went to the herculean effort to actually make sure that they had all the systems in place.
NOONANThat the answers they got were the correct ones. And if you have variations in the way testing is done, if you have certain parts of the genome that are maybe more resistant to testing than others, yeah, I can definitely see there would huge differences.
REHMBut hasn't the Supreme Court recently said that the human gene itself cannot be patented. And how is that going to affect what 23andMe does going forward?
NOONANThe interesting thing about what they do and what most genetic testing does is they don't isolate the DNA. They go in with probes and they sequence it in some ways in a random way and then put the random pieces together. So you never get to a place where you would infringe the type of claim that the Supreme Court said was not eligible in the first place. So, really, most genetic testing is not going to be influenced by that at all.
REHMWould you agree, Jeffrey Kahn?
KAHNYeah. I think that's right. And I think that's important to remember. And Kevin is really on point by saying the Myriad case, which is a Supreme Court that you're referring to, Diane, distinguished the patent claims of a company that was providing a particular area of service from what 23andMe and their like are doing, really quite different.
REHMSo, Marcy, as we continue to look at this and you say the accuracy is actually in question, seems to me there's an awful lot more to talk about. We've got lots of caller waiting. We're going to take a short break here. And when we come back, we'll open the phones and hear your thoughts as to whether you'd like to be tested or perhaps want to leave it all to mother nature. Stay with us.
REHMAnd it's time to open the phones, 800-433-8850. First to Rosanna in Miami, Fla. You're on the air. Go right ahead. Rosanna, are you there?
ROSANNAYes. Thank you so much for taking my call. Can you hear me?
REHMCertainly. Go right ahead. Yes.
ROSANNASo I'm a physician scientist. I have certainly nothing against stem cell research of genetic diagnostic. What I was really worried about the engineering of babies and I don't know any consideration about psychological consequences of those babies are, especially (unintelligible) case. So what is the sense of worth in a kid that is grown thinking that his function has been created to serve somebody else or because of being engineered by your parents?
ROSANNAI mean, for kids to develop their own personality and feeling that they are their own self is hard enough. And I'm thinking if these considerations are in place...
REHMAll right. Marcy, do you want to comment?
DARNOVSKYWell, I think that is a question that we should be thinking of carefully. And the novel that Jeff referred to earlier, the Jodi Picoult novel "My Sister's Keeper" which has been made into a movie explores that, taking it -- extrapolating to a story of a child that was born for -- that was engineered to have a particular kind of stem cells available in her core blood. And then as her older sister who is going to be the recipient got sicker, she was asked to be a kidney donor.
DARNOVSKYAnd, you know, that's fiction right now. We don't have any cases like that that we know of that have existed. But families who are contemplating this should really be thinking about all those kind of ramifications before they go into it.
KAHNSo let me jump in too. I think part of what we have to keep in mind -- and I don't disagree with what either Rosanna or Marcy just said -- but people have all sorts of motivations for having children and have throughout human history. So when I talk about this I tell the story that my grandfather on my mother's side was one of ten who grew up on a sheep ranch in Buffalo, S.D. Why did they have ten children? Because they needed people to work on the ranch. So fill in the blank, depending on what your story is. And that's a motivation for why people had children in that era.
KAHNPeople have children for good, bad and indifferent reasons. And people have children because the birth control didn't work. So I think we have to be careful about ascribing bad motives when people use genetic information as the only reason to think about parenting, and what's good or bad parenting. I pay lots of money for my kids to have piano lessons and SAT preparation courses. And we all do that to try to give our children the best lives. That's a kind of engineering I guess. It's not in a Petri dish certainly but I think we have to be a little bit careful about painting with a broad brush here about just how bad genetic testing might be when we do lots of other things that are similar if not the same.
REHMOn the other hand, talking about cosmetic issues, do we know how far our ability to do that has gone and how many parents are actually using it, Kevin?
NOONANI doubt many parents are using it. I think that it's sort of like the people who make designer cats. You know, there may be a couple of people who can do things like that but I don't think that people -- that that's really a present problem. Maybe a future problem but frankly it's aesthetic so there are just as many people who think blue eyes are attractive as brown. And just as many people who think brunettes are as attractive as blonds. I mean, I think that people can make -- may be able to make those choices but that'll just be individual choice.
KAHNI think the only...
DARNOVSKYWell, there is one place where we're doing it right now to a really special significant level and that's in selecting the sex of future children. And in some parts of the world, this is not always just done through PGD. In fact, most of the time it's not. It's done through cheap portable ultrasound machines and termination of pregnancies. Now we need to not be asking women why they would decide to terminate a pregnancy, but we also need to be concerned about encouraging parents to select traits of children including sex but not limited to sex.
DARNOVSKYAnd, you know, we have these powerful genetic tools. We need public policy. We need rules of the road. We need rules of the road for assisted reproduction because of the kind of way it's growing up, as Jeffrey was describing before. And we need rules of the road for genetic testing. You know, when new technologies come into being -- the internal combustion engine -- finally we get rules of the road. Chemical warfare, countries work hard to make international agreements. And sometimes they're broken but we're in a better world because we have these policies and we have these agreements.
DARNOVSKYAnd we're at a socially early stage of trying to reach these kinds of agreements about genetic technologies. But already we're in a situation where America -- the United States -- it's kind of an American exceptionalism because we have so few public policies on a range of these technologies compared to other countries.
REHMAll right. To Bob in Raleigh, N.C., you're on the air.
BOBYes, good morning, Diane.
BOBI actually had a couple things. I think messing with the essential building blocks of life is a mistake. For example, you take the gene from a (unintelligible) and put it in a fish. That wouldn't happen in nature. So if it doesn't happen normally I think it's a mistake. I think that a lot of these companies who get these patents on genetic manipulation, they simply don't give a damn about consequences. They're just interested in making money for the most part.
REHMAll right, sir. Thanks for your call. Kevin.
NOONANWell, it's actually interesting because I think that the desire to make money can be socially beneficial. For example, we talk about BRCA genes before. If the BRCA gene story had panned out so that it was discovered by somebody else who made it freely available, you would probably have had people who live in major cities like New York and Boston and Washington, there'd be major universities that would've made that available.
NOONANBut how about the woman in Appalachia? How about the people out in the four-corners region or in rural Iowa? I think it would be much less likely it would be available to them. Whereas Myriad actually went out and petitioned state legislators to pay for it, got genetic counselors together, talked to all the OB/GYNies in all these places. Not because they were altruistic but because they wanted to make money. So sometimes that way of doing things gives us socially beneficial outcome that you wouldn't have expected.
DARNOVSKYYou know, Kevin, actually the other side of that though is that Myriad prevented women from getting second opinions about results that they got back. And you said before actually that these were highly accurate results. Actually Myriad didn't even develop the tests so that it could pinpoint variations among certain populations. They didn't do the work that needed to be done and that could've been done by other researchers had they not been so strict about enforcing their patent and not allowing other researchers to work on those genes. Not allowing other -- not allowing women to get a second opinion, charging so much for that gene test that many women couldn't afford it.
DARNOVSKYAnd those are the arguments that the plaintiffs who were researchers, who were doctors, who were women's health advocates who were breast cancer survivors, those were the plaintiffs in the suit that the Supreme Court unanimously decided against Myriad and against patenting human genes, just as...
REHMAll right. Let's hear another view from David in Pittsburgh, Pa. Hi there, David.
DAVIDHi, Diane. Thanks for taking my call.
DAVIDMy comment is, you know, your female guest, though she's certainly coming from a moral standpoint, your male guests are more scientific. My point on the moral side of this is if the technology exists and it's available and you do not use it to help your children be free of diseases and things of that nature, I think that's immoral. If the technology exists, why not use it to make your children's life as best you can? You're going to do that after they're born anyway. What's the difference if you do it after they're born or before they're born?
REHMAll right, sir. Thanks for your call. Jeffrey.
KAHNSo I appreciate both the last callers actually. And I want to endorse what Marcy said about the need for rules of the road. We want to preserve the benefits of these technologies, there's no doubt. Whether they're testing technologies, which is really where the patents have been filed. Genetic manipulation is not something that we're really able to do yet, as Bob mentioned in his call. Nor are there patents on manipulating humans. There are some patents filed for technologies to help introduce genetic change. We call that gene therapy which has not been successful yet on a medical level.
KAHNBut what we don't really have are rules that make sure that we get the benefits that David is talking about while making sure -- or at least putting parameters around or restrictions on the worries that Marcy has articulated. So I think we need to do both of those things. And that's always been the role of regulation in our country. It's an interesting feature of the U.S. system that we regulate some things very heavily, generally when they're funded by the U.S. government in the biomedical research arena, and then not at all when the private sector is who's funding them. And that's kind of where we are in this area of reproductive genetics at least.
REHMTo Liverpool, N.Y. Hi there, Sue. Thanks for waiting.
SUEHi, good morning. I have two question/comments. First of all, I'm a middle-aged adult with cystic fibrosis. And I am all in favor of eliminating the possibility of a deadly expensive disease like this. But I have kind of a hypothetical evolutionary question. I remember reading once that genes in the carrier of a disease lie CF are possibly protective against diarrheal diseases like cholera. And carriers of diseases like sickle-cell anemia could possibly have a protective effect against malaria.
SUESo my question is, if these tests ever got cheap enough and widespread enough where we could literally eliminate disease period, do we put ourselves' evolutionary at risk for opening ourselves up to other illnesses? And my second question is kind of a follow-up of your female guest, the comment about the sex selection. They're already seeing in countries like India and China that there are not enough women now for the men because they have used ultrasound and aborted so many females. And there again, will there be a ban on sex selection? So if you could answer those two questions, I'd appreciate it.
REHMAll right, Sue. Thanks for calling.
KAHNSo let's take the CF and sickle-cell example first. You may be right except that it would take such a large scale change in human genetics on a population wide basis that it's not likely to happen. These are what we call first world problems, right, where it takes a very rich country to have the technology available, one. And then have it affordable to even a small proportion of the population, two. So it's not something that's going to happen in any near term.
KAHNSecond, even if we were able to really reduce the number of people with the mutation in the population, we're working all the time to try to cure things like malaria or vaccinate the population so they aren't susceptible to malaria. So maybe that's a better way than to worry about having a genetic mutation. As for sex selection, it's interesting. So India and China are examples where females are not as valued. But in the U.S. it turns out the technology for sex selection is being used to select for more girls. So it's a cultural phenomenon in fact.
REHMInteresting. And you're listening to "The Diane Rehm Show." Here is an email from Brandy in Texas who describes herself as a former Myriad genetics employee, the company that the Supreme Court case was based on. She goes on to say, "It's my understanding that analysis of our genetics would almost always yield genetic variations that are harmless polymorphisms. So wouldn't these companies need to maintain sophisticated databases and maintain strict protocols in order to make meaningful analyses? Are they doing so?
NOONANWell, that's a good question. I know Myriad's doing it. And there's something called the variation of unknown significance. If you were to look at all of us, at any particular gene, we would have many, many, many differences between us. And most of them have nothing to do with disease. Most of them are just random variation because we're a species, right. We're all individuals of a species. And so I think that question comes down to the only way you know if something has significance is to have the genealogical data to find out that you go back two or three or four generations and find, ah-ha, this particular mutation is present in all these people and they all got the disease.
NOONANBut that takes an incredible amount of population type studies that people are doing but that we're not even close to being there yet.
REHMAnd one last question. I would appreciate everybody's comment on this. It's from Corinna in Michigan. She says, "I don't know my father. Would it be worthwhile to get a genetic test to see what health risks I might encounter from his side of the family?" And to you, Marcy, first.
DARNOVSKYWell, I really think that's a question that Corinna should be talking about with her doctor. But my sense is that right now for healthy people, there really isn't a lot that you're going to be likely to learn from genetic testing that you can't learn from a checkup. And Corinna knows one side of her family so she knows her family history there. For those of us who do have -- are in the fortunate position of knowing both sides of our family, most medical doctors and a lot of geneticists will tell you that family history of -- medical family histories are telling us far more right now and probably in the foreseeable future about our risks of developing certain conditions.
REHMKevin, what would you say to Corinna?
NOONANWell, I agree with Marcy with one caveat. And that is there is going to be a couple things out there, and we talked about Huntington's -- there are some diseases out there that if it were on one side of a family and you knew nothing about them, you could in fact be carrying and be at great risk. So there may be some limited instances where it would be beneficial. Most of the time you'll get information but the biggest problem we have is figuring out what the information means.
REHMAnd what to do about it.
NOONANOf course. Of course.
KAHNAnd I think that frankly we're in an in-between period where maybe it's not the right time yet. It's not a prime time diagnostic tool, but it certainly will be in the future. There will be a time when we all have our genetic tests done and maybe our full sequences done and it becomes part of our health record.
KAHNAbsolutely. And I think that's coming and we need to just prepare public policy and ethics and intellectual property-wise for that day. And to make sure those can be used in the best way to promote our health and not raise some of the issues that we've talked about today.
REHMJeffrey Kahn. He's at Johns Hopkins University. Kevin Noonan, he's a partner at McDonnell Boehnen and does a blog called Patent Docs. And joining us also from the University of California, Marcy Darnovsky. She's executive director of the Center for Genetics and Society. Thank you all Most interesting. Clearly is going to go on and develop and we'll be watching. Thanks for listening all. I'm Diane Rehm.
Most Recent Shows
Glenn Thrush, White House correspondent for the New York Times, describes operations inside the Trump White House, and science writer Sharon Begley explains why compulsions can useful in times of anxiety.
President Trump announces his nominee for the Supreme Court, legal battles ramp up in opposition to the Trump's executive order on immigration restrictions,and some in Congress vow to resist: Three political experts speculate on the future of our three branches of government and their respective powers in the Trump administration.
David Cole of the ACLU on President Trump's order restricting immigration, Jeff Sessions for Attorney General, the president's likely violation of the Emoluments Clause, and what actions concerned citizens can take.