Journalist Bonnie Rochman talks about her new Scientific American/Farrar, Straus and Giroux book, The Gene Machine: How Genetic Technologies Are Changing the Way We Have Kids—and the Kids We Have.

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Steve Mirsky:              Welcome to Scientific American Science Talk posted on June 1, 2017. I'm Steve Mirsky. On this episode …

Bonnie Rochman:     One potential outcome of all this genetic technology and genetic testing is abortion. Not that it is the right decision or the wrong decision but it is one reason why people do testing.

Mirsky:                       That's award-winning journalist Bonnie Rochman. She was a staff writer for Time magazine and a parenting and health columnist for Time.com and she's contributed to the New York Times magazine, The Wall Street Journal. MIT Tech Review as well as Scientific American. In her new book from Scientific American and Farra, Straus and Giroux is The Gene Machine:  How Genetic Technologies Are Changing the Way We Have Kids and the Kids We Have. Rochman lives in Seattle with her husband and their three kids so we talked by phone.

                                    This book talks about Pandora's Box. It talks about genies in bottles and I think that's appropriate because we're still at the very early stages of this business.

Rochman:                   Exactly. I love that you describe it that way. So there are certainly lots of examples in the book that would line up with a Pandora's Box scenario. You know, people – what I found in researching this book is that people think in some situations that they want information. And then when they find out that information, they are taken aback because they learn – they get test results that they weren't expecting. I think it's human nature to wax optimistic, which is a trait I'm sure that has enabled us to persevere through generations. But when it comes to testing, you know, obviously you're not always going to get a result that you find reassuring.

 And in, you know, I describe in the book this situation in which a family who lives outside of Philadelphia had testing, had genetic testing for their child who was discovered at birth via standard newborn screening to have a degree of hearing loss. And so the family was trying to figure out what was the cause of the hearing loss. It didn't run in their family. And they were referred to a genetics clinic and they figured oh, it's nothing genetic. You know, this isn't – we don't have any family history. And the test was run and it did not reveal the cause of their little boy's hearing loss, but it did reveal that he was missing several genes. And then when they had further testing, it was revealed that the mom is missing those same genes so she passed on this gene deletion to her son.

And the family was extremely upset because they didn't realize that they would find out this additional information. So they were just looking to try and figure out what was going on, why their son couldn't hear well enough [laughs] although when I met him, to me he seemed to be able to hear just fine. So I'm sure the hearing loss was not extreme, but they ended up learning this information that really made them think differently about their child. There's this undercurrent of worry and concern about these missing genes and they wish that they didn't know.

Mirsky:                       And as genetic testing becomes cheaper and more widespread and perhaps eventually mandatory, we're gonna find that everybody's got something even if the odds on it becoming an issue throughout one's life are miniscule or really just not a factor at all but something is going on genetically.

                                                      

Rochman:                   Exactly, exactly. We all have hundreds of mutuations. [Laughs] Now, that is something that really surprised me. I didn't realize that and I open the book by talking about when I had my first child and I had this amazing pediatrician. He was super-personable and he would start the checkup and check out the baby and end it by saying, "He's perfect." It was the most amazing thing to hear but, of course, it's not true. No one's perfect. You know, that saying when you examine it from a genetics perspective, it's really, really true. It's not only kind of no one's perfect from a psychological perspective, but no one is perfect from a biological perspective either.

Mirsky:                       And this could become in some ways for a lot of people a bigger problem than if they had found anything that medical science currently or in the near future has an answer for.

Rochman:                   Right, exactly so sometimes, you know, so practically every day it seems like you'll read the newspaper or you'll be online or you'll hear on NPR there's some – this new gene – this gene has been newly associated with this disease or that gene has been newly associated with the risk factors for this condition. So it's this constant process of what's called "gene discovery" and gene discovery is a really amazing thing because the more that you're able to link the genes with diseases or specific genetic conditions, then that gives you a basis from which to start working on treatments or working on the Holy Grail, a cure.

                                    However, sometimes you find different genetic changes are not associated with anything specific and known. They're not what's called, you know, what's considered to be "deterministic" so you're left with this information that is not very clear. It could be concerning. It could not be concerning. And then you have to figure out what to do with that with that uncertainty.

Mirsky:                       Especially when, as you say, it's not deterministic. It's only probabilistic.

Rochman:                   Yes.

Mirsky:                       And suddenly you're faced with the knowledge that in my – during the rest of my life I have a 50 percent chance of developing this condition. I mean one of the things you talk about in the book is the breast cancer genes …

Rochman:                   Right.

Mirsky:                       … which greatly raise a woman's potential for getting breast cancer. However, that's still only a minority of all the breast cancer cases.

Rochman:                   Exactly.

Mirsky:                       So you talk about somebody in the book who takes the prophylactic steps to make sure that she does not come down with the condition, but she still has the 1 in 8 chance that any other woman has.

Rochman:                   Right, right, yes. You can't lower your risk beyond what the average risk in the population is. So that's the case with so many genes is that they don't correlate with certainty so they correlate with increased risk. And everyone's ability to manage increased risk and tolerance for increased risk is really different. It's very individual so in some cases proceeding with genetic testing may be exactly the right thing to do for one person. And for another person it may really freak a person out. So I think it's important to know how you process information, how much information you're comfortable receiving and not necessarily to simply take the recommendation of a doctor or a genetic counselor to take that recommendation but in addition to add on what your own personal tolerance for risk is.

Mirsky:                       And that's very difficult for laypeople.

Rochman:                   It can be really difficult. One critical link here is the genetic counseling profession. So the more that genes are associated with a disease then the more people are going to be interested in testing themselves for a predisposition to disease or to see if they actually have early signs of disease. And genetic counselors are really the people, they're really the experts who can say, "Okay, this is not really an important – [Laughs] This is not something that you need to be doing or this is definitely something that you need to be doing.

                                    There was recently a study just in the past couple weeks about women who have been diagnosed with breast cancer and whether they are offered genetic testing to see if they have a hereditary mutation. And apparently, if I'm remembering this research correctly, women – more women want to be offered testing than are currently offered testing. So even, you know, physicians and perhaps genetic counselors are not getting to these women. Genetic counselors are not everywhere in this country. They tend to cluster more at major medical centers.

And, for example, if you're pregnant and you're trying to decide whether to have different sorts of genetic testing, if you live in a small town in rural America, it is highly unlikely that there is a genetic counselor who is attached to your OB-GYN's office. Whereas in contrast if you're living in New York City and you're going to a major medical center for your prenatal care, there are probably a whole bunch of genetic counselors who are affiliated. And it's the genetic counselors who have the expertise to guide people and to say this is what this test can reveal. Do you want this information? Would it change, for example, the course of your pregnancy? Why do you even want to be doing this testing? What are they pros and cons? And they can sort of guide you toward making an educated informed decision.

Mirsky:                       Yeah, you talk right upfront in the book about your experience in North Carolina as part of a Jewish couple, Ashkenazi Jewish background, which has a much higher risk for Tay-Sachs disease in a newborn. And Tay-Sachs is a devastating condition where the child is only gonna live to be three or four years old max, right?

Rochman:                   Right, exactly and it's just a terrible deteriorating quality of life in those several years. It's really, really terrible disease that most people would want to avoid at any cost.

Mirsky:                       And in North Carolina, which does not have a huge Jewish population, there was not the same kind of capacity for testing as in New York  where I am, which does have a very large Jewish population and where it's standard to be tested.

Rochman:                   Right and so that's something that is – that women, that couples really need to be aware of and on the lookout for. So depending on where you are geographically in this country will often dictate what sort of genetic testing is recommended to you before or during pregnancy.

When I was living in North Carolina and I went to my OB-GYN and asked about testing, he said, "Oh, you just need to be tested for Tay-Sachs" and because I'm a journalist and I had already done all this research, I said very respectfully actually, I don't think that's the case. There's a center for GOS Genetic Disease and here are the diseases they recommend. And at the time when I was pregnant with my firstborn, that was back in 2002 and I think there were about 9 or 10 diseases at that time and he just thought I was overreacting. He didn't think it was necessary. And the interesting thing – I don't think I included this in the book – but the interesting thing is that the doctor was actually Jewish himself. [Laughs] And he still didn't even know about the importance of expanding beyond just Tay-Sachs.

                                    So people really need to be vigilant. It's, you know, unfortunately the burden is – as in so many things in healthcare, the burden is really on the patient. No one's going to advocate for you as you can do for yourself. So it's incumbent upon people to really be educated and to go into their prenatal visits having at least a basic understanding of what testing is out there in order to be able to get the best prenatal care.

Mirsky:                       Yeah, I have friends who are Jewish, a couple, and they were both carriers for Tay-Sachs. And when they got pregnant, even with the genetic counseling they were still freaked out and they called me. And as you know, as a science journalist, all our friends think that we're doctors …

Rochman:                   [Laughs] Right.

Mirsky:                       … which we are not but they called me. And my rudimentary understanding of the genetics of Tay-Sachs is what I passed onto them. And even though they had professional genetic counselors who were helping them through this process and it turned out that the kid was fine and is now a junior in college studying nutritional sciences, to hear it from a friend of theirs somehow validated what the genetic counselors were telling them even more.

Rochman:                   Yeah, well so if your friends' child is now in college – so I am assuming that your friends just kind of opted for luck of the draw because in a situation where you have two parents who are carriers for Tay-Sachs, which is considered an autosomal recessive disease, which refers to how it's inherited, so your friends would've had a 25 percent chance of having an affected child so they won the lottery. They had a 75 percent chance of having a child who was not affected by the disease and that is, fortunately, exactly what happened. But increasingly people are able to take advantage of a technology called pre-implantation genetic diagnosis if they know that they're both carriers and they don't want to take that risk, that 25 percent risk of having an affected child.

                                    So the unfortunate thing about it is that you have to go through IVF, in vitro fertilization instead of just getting pregnant the regular way so you go to a IVF clinic. You make embryos and then those embryos are analyzed for the presence of the mutation. So in your friends' case, it would be for the presence of the genetic mutation that indicates that Tay-Sachs disease is present. And then those embryos that have the – that are positive for Tay-Sachs would be set aside and only those embryos that don't have Tay-Sachs would then be transferred to a mother's uterus.

                                    So it's a pretty amazing technology and it is certainly a way to sidestep a fatal genetic disease. What's interesting is that, as science gets more sophisticated, we're able to do pre-implantation genetic diagnosis for more and more diseases. And now people are starting to actually do that to avoid the chance of passing on a breast cancer mutation, which is clearly – it's more fraught than doing – than using this technology to avoid Tay-Sachs. So Tay-Sachs is a death sentence, and not many people would argue with using the technology to avoid having a baby who has Tay-Sachs who's destined to not even make it to kindergarten.

                                    But with something like breast cancer, which we just talked about a couple minutes ago, you're at increased risk but it doesn't even necessarily mean you will get the disease. Is it right? Is it moral or ethical in those situations to select embryos that don't have a BRCA, a breast cancer mutation.

Mirsky:                       Yeah and the issue that we haven't confronted head-on is abortion here.

Rochman:                   Right.

Mirsky:                       And the question even discarding IVF embryos is considered by some to be morally unacceptable, and abortion obviously is

                                    considered morally unacceptable by some people who would

argue …

Rochman:                   Right.

Mirsky:                       And this includes Orthodox Jews who might be carrying a Tay-Sachs baby who would go ahead with the birth anyway rather than have the abortion.

Rochman:                   It is very complicated, abortion. You know, when I was researching this book, I was … [Laughs] I was speaking with various people kind of talking over the ideas and the themes and it was, I guess, not surprising that abortion was so polarizing so there were these two pretty clear-cut groups. One would say "You're not gonna talk about – you're not gonna mention abortion in the book, are you, because people can't handle that. That would just completely derail it." And others said to me "Oh, well, you're gonna definitely have a chapter about abortion, right?" and I said yes. I mean I was always planning on that. To me it feels disingenuous to not talk about abortion. It's kind of the elephant in the room, but I feel like it's not being truthful to not acknowledge that one potential outcome of all this genetic technology and genetic testing is abortion. Not that it is the right decision or the wrong decision, but it is one reason why people do testing.

Mirsky:                       Absolutely and I was thinking when I was looking at the book about how the first kind of genetic testing of newborns for PKU was such a breakthrough because it was such a clear-cut situation. If you have PKU as an infant – refresh my memory if I'm wrong about this – you develop a devastating brain syndrome.

Rochman:                   Right, right, it can cause brain damage for sure.

Mirsky:                       And all you have to do to avoid it is basically not drink diet soda.

Rochman:                   [Laughs] Right. You have to restrict your diet and so that was kind of a no-brainer. There's no reason not to do this test. There's nothing bad about knowing that you have PKU. It is life-saving. But in certain other situations – in fact in so many other situations it is incredibly complicated because the presentation of a disease like take cystic fibrosis, for example. Some people would really, really, really not want to have a child with cystic fibrosis, which is a lung disease that can be incredibly debilitating and typically leads to premature death, and other people are not as concerned about it.

                                    And then when you think about the presentation of cystic fibrosis, there are some people who have cystic fibrosis who are – spend a ton of time in the hospital and whose life is really compromised. And then there are other people who have cystic fibrosis, kids who play sports and who really just have a much more moderate manifestation of the disease. And that's the kind of thing that often, you know, Down syndrome comes to mind as well. Often you just don't know. You can learn during pregnancy that you have – that your fetus has a certain condition, cystic fibrosis or Down syndrome, but you can't know until that baby becomes a child and that child continues to grow exactly how severely that condition will be manifested.

Mirsky:                       And you talk in the book about efforts to actually silence the extra chromosome in Down syndrome, which are ongoing.

Rochman:                   Yeah, it was a pretty amazing scientific feat. But what is so complicated about that? I mean, all of these issues that I explore in the book and the reason I'm so interested in this is because it's not just straight science. It's science married to ethics. So you can imagine that if you have a child with Down syndrome and you love that child and you think theoretically would I want to silence that extra copy of my daughter's 21^st chromosome that, you know, the extra copy of a 21^st chromosome is what characterizes Down syndrome. And so if you could silence it, you would essentially – it's not that you would take away the Down syndrome, but you would certainly tamp down a lot of the symptoms of it. And if you love your child for who she is, maybe you don't want to do that or maybe you feel very, very conflicted about the thought of doing that.

                                    And most parents with whom I spoke, they don't know how to feel about this. On one hand you want to give your child every opportunity. Every parent does. [Laughs] That's sort of the job description for being a parent. But then when it comes to a child with Down syndrome, what does it mean to give your child every opportunity and if you're trying to actually change that, you know, trying to tinker with genetics, then is that acceptable? And so I think morally a lot of parents are struggling to figure out how they feel about, you know, something like silencing the extra 21^st chromosome. That is still very much in the research stage being done in Petri dishes, not in people yet. But there are others, other research going on about medication that a pregnant woman could take. Once she finds out that her fetus has Down syndrome, a pregnant woman can take medication to improve cognitive development of her fetus or medication in children or in young adults or in older adults to improve memory. Is that right? It's very – a lot of people have very, very strong opinions.

But I guess I would argue that parents of kids with typically developing children try to improve their kids' cognition every day but doing things like, I mean, okay, yesterday was Thursday. I took my son to Math Club. He's 14. There's a math lab run by the math department at the University of Washington here in Seattle. And did he kind of fight me on it back in September when I said oh, here's this Math Club. You really love math. I think you should go. Well, yeah, he wanted to just play Pokemon Go but I said no, you're gonna try Math Club. If you hate it, then we'll talk again and he actually ended up loving it. But so why am I doing that? So is that really any different than a mom of a child with Down syndrome trying to do – trying to give that child medication to boost his memory processing? I don't really think so.

Mirsky:                       Yeah, this whole thing is just so not black and white and it's not even gray. There are thousands of shades of gray involved in all these issues. You mentioned that it's not only biology or biomedicine. It's ethics but it's also culture. You talk in the book about the deaf culture. I have a whole branch of my family who are congenitally deaf and they're all incredibly high-achieving people who have gone to Gallaudet College, a famous Washington, DC, university for deaf people. And when I'm with them, I'm the one who has a disability because they're all conversing completely fluently with each other using American Sign Language and I'm standing around. I get a little bit of it, but I'm the one who has to have things written out for me and explained to me.

Rochman:                   Right.

Mirsky:                       So there's a case where, I mean, there's no culture among people who wear glasses who want to say we shouldn't wear our glasses. We should be myopic and embrace it, right? [Laughs] But there

is –

Rochman:                   [Laughs] I'm glad that there is no such culture. I would not fare well.

Mirsky:                       I wouldn't either. We wouldn't be able to drive. We'd have a lot of problems, but in the deaf community if an outsider were to say, "Well, if there's genetic testing that could tell you that your child would be deaf and you could abort or would treat your child in utero so that the deafness is avoided" or later on this whole issue of cochlear implants has been an issue for years. And there are members of the deaf community who would want to get the cochlear implant and there are other members who say "No, this is my culture. To me this is an equivalent of almost an ethnicity and so I don't want to do anything about it. I don't consider that I have a problem."

Rochman:                   And then you have to consider that there are people who will take it even a step further. It's not only that they don't want to – that they don't see deafness as a "problem" but they actually want to select embryos that will have congenital deafness or dwarfism. It happens with that also so there have been instances where people actually tried to use that pre-implantation, genetic diagnosis technology that we talked about in regard to breast cancer and to Tay-Sachs but to use that instead of to – rather than to eliminate a disease or in that case, you know, Tay-Sachs, breast cancer you're trying to eliminate, choose an embryo that doesn’t have a disease. Say you're working toward elimination of disease but some people who are within the dwarf community or within the deaf community actually want to select for a disability. Now they don't consider it a disability. They consider it, as you said, part of a thriving vibrant culture so they actually want to have a child like them.

                                    And when you think about that, it's pretty normal because if you and, you know, if my husband and I were both deaf, well, maybe it would be a little bit weird to have a hearing child. And I mean everyone always wants to have – you want to have children who are like you in the sense that they embody – hopefully, they embody your good characteristics and not so many of your bad traits. [Laughs] But if you think that deafness is part of a vibrant culture, then it would make sense that you would want to have a child who joins that culture.

Mirsky:                       And this is where I think things get really gray but let me use the example if you're a dwarf couple and your child's gonna be a dwarf or if you're not a dwarf couple but the genetic testing shows that you're gonna have a child with dwarfism. And so to some listeners it might be obvious, well, you should have an abortion. Okay so let's say that that's – if you feel that that's obvious as a listener, fine.

                                    Now what about this situation? The child does not have dwarfism but genetically it's pretty easy to predict that it's a boy and he's not gonna get any taller than 5'2". Being a 5'2" man in this society is very difficult. You're gonna make –

Rochman:                   [Laughs] Are you speaking from personal experience?

Mirsky:                       No, I'm actually 5'7" so I don't have to deal with the issues. I deal with it a little bit but not like somebody who's 5'2". A 5'2" guy is gonna make less money.

Rochman:                   For sure.

Mirsky:                       He's gonna have more limited job opportunities. He's gonna have more trouble finding a mate. There are so many potential struggles for just being in the so-called normal range but then at the bottom of the normal range that then the question comes up do the parents want to inflict that on the child?

Rochman:                   Yeah, there's a whole spectrum and what is complicated is that who's the arbiter of where we draw the line? That's what really fascinates me about this topic and what – why I wrote a book. I want to know where – are there red lines? Where are they? Where do they exist? Who draws them? So who would decide what you might think would be unacceptable? A disability in your eyes could be an ability in someone else's eyes.

Mirsky:                       I mean even just being left-handed has it drawbacks.

Rochman:                   Are you left-handed?

Mirsky:                       No but … [Laughs]

Rochman:                   I am. I love being left-handed. It's kind of like a microcosm of sort of what maybe I can envision what deaf culture is like. Whenever I meet another lefty, there's this sense of pride and being in this kind of fraternity where we're considered more creative. And my youngest daughter is left-handed and we always high five each other when it comes up. So it starts filtering down and you have to try and figure out where we draw the line. For example, what if you find out just through ultrasound or in pregnancy that your baby has a cleft palate or cleft lip. That can be fixed surgically quite easily and would you, though, then say okay, well, because I found that out and should I just, you know, I'll just have an abortion and I'll try again. So kind of the more that testing is able to reveal during pregnancy, the more possibility there is that people are potentially going to become less discerning about what they find acceptable in terms of disability versus unacceptable.

Mirsky:                       And that's what has a lot of ethicists worried because this could be considered to be a step on the way to full eugenics.

Rochman:                   Yeah, yeah and there is a father who I quote from his book in my book and he has a chapter in his book about his daughter who is a dwarf called "The New Eugenics". So the old eugenics, per se, really probably reached its zenith during the Nazi era but certainly went on in this country for decades where we would try to restrict reproduction of people who were considered less than or not as smart as. So the difference with the old eugenics, the old eugenics was state sponsored so that is a really important distinction that was pointed out to me by Paul Lombardo, who is a law professor at Georgia State University and he researches eugenics.

                                    So very, very big distinction if it is state sponsored so it is mandated by the government. So what we're doing now and the reason that this book entitles a chapter "The New Eugenics" is that we are looking at people and we are looking at tests and we are intersecting those two to say okay, well, what do I find acceptable? What, you know, is Disability A acceptable to me? Is Disability B acceptable to me and how far am I willing to go to prevent this or to treat this? And so the distinction, I think it is a critical distinction that today is not the government that is mandating it. But rather it is technology that is allowing us these choices and, ultimately, it's parents who are making the decisions.

Mirsky:                       One of the great things about the book is … [Laughs] This might sound like it's a drawback but there are no answers here. The book, though, does a great job of laying out what the questions are. And the questions have come fast and furious, boy.

Rochman:                   Yes. Well, thank you. I'm glad you … [Laughs] I'm glad you noticed that. I certainly think I've been wondering how people would perceive – would interpret the fact that there are no answers. But I didn't really know how I would give answers and still be authentic to the topic and true to myself because I don't think that there are answers for the very reason that the answer for me may not be the answer for you because these calculations are so individual and so personal that what would feel absolutely intolerable to my family might feel like a blessing to another family.

Mirsky:                       Bonnie Rochman's website is BonnieRochman.com. That's B-O-N-N-I-E-R-O-C-H-M-A-N.com. If you're in the New York City area, she'll be at the 92^nd Street Y the evening of June 8^th as part of a discussion called "Genetic Testing: What Parents-to-Be Should Know" along with bioethicist Art Caplan, genetic counselor Shivani Nazareth and moderator Rand Hutter Epstein.

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                                    That's it for this episode. Get your science news at our website www.ScientificAmerican.com or you can also check out the education page and find out about science experiments to do with your kids as well as citizen science projects in which you can help researchers working on everything from figuring out where plastic ends up in the ocean to finding new exoplanets. And follow us on Twitter where you'll get a tweet whenever a new item hits the website. Our Twitter name is @sciam. For Scientific American Science Talk I'm Steve Mirsky. Thanks for clicking on us.

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