JOHN DONVAN, HOST:
This is TALK OF THE NATION. I'm John Donvan in Washington. Neal Conan is away. Now you know: Those three words usually come at the end of a story, at the end of a search for knowledge and investigation. You get your answer, you're done because now you know. But there are times when now you know is really just the beginning, the first step.
Courtesy of the still-developing science of genetic testing, we can now find out things about ourselves, possible plotlines written into our DNA, that have staggering implications for our lives. People who test positive for the gene mutation that indicates Huntington's disease, for example, get an all-but-certain look ahead at how their lives will end and maybe even roughly when they will end.
We're in the early days here. The relatively small number of Americans who have been tested for genetic diseases have learned that knowing is not easy, knowing whom to tell, whom to keep in the dark, what to do with your money, with your time, your relationships, with your body, an enormously complex set of decisions that people who get tested do not necessarily anticipate.
So how complicated does it really get when you've got that simple test result in your hand? What can you, our listeners, tell us if you have been tested that you think the rest of us need to know about the experience and the process? Our number is 800-989-8255. Our email address is firstname.lastname@example.org. And you can join the conversation at our website. Go to npr.org, and click on TALK OF THE NATION.
Later on in the program, Jeffrey Gettleman of the New York Times will join us to talk about ways to stop the cycle of poverty and famine in Somalia. But first, Robert Klitzman, who is a professor of clinical psychiatry and director of the master's of bioethics program at Columbia University, his new book is called "Am I My Genes? Confronting Fate and Family Secrets in the Age of Genetic Testing." Nice to have you with us, Robert.
ROBERT KLITZMAN: Thank you, it's great to be here.
DONVAN: I've been through the book, and it's a fascinating thing you do. You essentially talked to 65 people who have been candidates for genetic testing. They had reasons to believe that maybe there was something in them that a genetic test would reveal. Generally speaking, they were concerned about bad news. Some of them went ahead and tested. Some of them didn't. Some of them were positive. Some of them were negative.
And you journey with them through the forest of decisions that they end up having to make. And what's fascinating is that they're decisions that most of us don't even think about when we think oh, I'll go get a test for that gene. So I want to talk with you about those journeys and what's learned. And I want to hear from our listeners who have embarked upon that journey and what decision-making process was revealed to you that you think the rest of us don't understand is at stake here.
But first, Robert, let's start with a reality check. You know, the media is full in the last 10 years of stories about discoveries of, you know, single-action genes that sound like single-action genes, a gene for - a gene for aggression and a gene for jolliness and a gene to make you gay and a gene to give you autism and a gene for this and a gene for that. How far ahead of reality are those reports? How many real diseases can - are specific to one gene mutation?
KLITZMAN: Well, at this point we know that there are about 5,000 diseases that we have very good genetic data for, that is to say where we've been able to find a genetic marker that indicates a very clear predisposition for the disease. Sometimes, in the case of Huntington's, as you mention, if you have the mutation, you will die of that disease if you don't die of something else.
On the other hand, something like breast cancer, if you have the mutation for that, it means you have about a 50 percent chance of getting breast cancer, which is a much increased risk. There are other conditions, though, and there are also behaviors where we really don't yet know the full genetics, so things like intelligence, things like athleticism, blonde hair, blue eyes, there are undoubtedly many, many genes that are involved in those kinds of traits or behaviors, and we're beginning to identify some of them but not to the level where we can make strong predictions.
DONVAN: What you then explore in the book is what an enormous lifting of the carpet into something - into a work that maybe people hadn't anticipated when they went to get the test. You just talked about the complexity of decisions that they have to make.
And let's start with a very obvious one, which sounds obvious and then turns out not to be, and let's put it in terms of Huntington's, which as you just said would indicate it's going to tell you, number one, that you're going to die of this disease unless something kills you first, and you're not going to - it's going to be a difficult death. Your personality is going to change, and it's probably going to happen at roughly the same age that it happened to an ancestor or to your parent.
And the other thing is that there's a 50-50 chance that you're going to pass it on to your children. So you test for this gene, and you come out positive. What do you then have to consider?
KLITZMAN: Well, there's a wide range of issues, as you mentioned. The first one is whom do you tell. So people suddenly had to wrestle: Do I tell my 18-year-old son or daughter or my 17-year-old or my 21-year-old child that he or she therefore also has a 50-percent chance of having this mutation? Do I want to have that shadow their lives as they're just getting going on their independent adult lives?
DONVAN: And what kind of answers did you hear to that question?
KLITZMAN: Well, people wrestled. People generally found, I think, that people in 17, 18, that's too young. Some people waited until their children were getting married, and suddenly when they were about to get married, at age 28, their parents said, you know, by the way, Uncle Jack, he didn't fall down the stairs and die as we talked about, he actually had Huntington's disease.
And then suddenly people had to figure out, well, should I still get married, should I have kids. So I think that's too late. So I think that it's important to make independent judgments and also talk to a genetic counselor or a geneticist or a physician about what makes sense for the individual. But I think teens are too early, and waiting until someone's about to get married, late 20s, is too late.
DONVAN: I want to bring in one of our listeners. Julie(ph) in Berkley, Michigan - I hop I pronounced Berkley correctly - Julie, are you there?
JULIE: Yes, I'm here.
DONVAN: You're - you know what you're looking for as people who are in the tangle of these decisions right now. Where are you in the process?
JULIE: I actually have - my father had Huntington's disease. My two sisters have it. And I have chosen not to be tested.
DONVAN: Tell us why not.
JULIE: Say that one more time?
DONVAN: Why not?
JULIE: You know, it was a decision that I felt like I was OK with not knowing. Seeing the things that my father had gone through and sort of suffered because his mother had it, his brother had it, and this is before they had sort of a name for it or anything to do for it, it just seemed really - something I didn't want to have to deal with. And if I was OK with it, I felt like the person that I would meet in my life, my husband, we talked about this before I was married.
Now I am married, and I have a two-year-old son, and these are all things that every time we come to one of these decisions, it's brought up again, and we decide again, you know, are we going to do it, no, I don't want to do it. Are we OK with it? Yes, we're OK with it.
So it's a constant conversation because now I have two sisters who also have it. So it's something that...
DONVAN: When you say they have it, do they have the symptoms, or they have the gene mutation?
JULIE: They have been both genetically tested, and they both exhibit symptoms. One of them is actually in a nursing home now because she needs more care than one parent can provide. And my other sister, she is - you know, she's progressing, but she still lives on her own, close to my mom. My mom checks in with her frequently. So it's - you know, they're at different stages.
DONVAN: To go to what Robert is talking about is the whom-do-you-tell question. Did you feel compelled to tell your husband prior to your marriage that Huntington's was in the family?
JULIE: Yeah because he'd actually met my father right before my father had passed away, and it was very obvious at the time that he was suffering from a lot of the physical symptoms. So to not address the situation was out of the question. So I made sure that very - it was an early and open discussion about the discussion because I felt like it was fair for him to know.
DONVAN: Would you rather that we lived in a world where you had no idea whether your father's illness was inheritable or not?
JULIE: For me personally no. I think it depends on the individual. And for me, like I said, I have been able to be at peace with my decision, but I've seen my own sister, who not knowing put her into a severe depression for years.
DONVAN: Robert, is that quite typical, that it actually is kind of - the not knowing is more of a torment than knowing?
KLITZMAN: Well, it's a very difficult decision because for some people, not knowing is worse, and therefore they decide to get tested. People, I should say, also often feel that they are beginning to have symptoms, and that then may lead them to decide to test or not test. There's also issues during dating, that is to say even before getting married. At what point do you tell, if you're just beginning to date someone, do you tell right away on the first or second date, and if you do there may not be a third date.
On the other hand, if you wait too long, people can feel you've not been honest. So those are very difficult decisions that you and others may have faced, as well.
DONVAN: Julie, thank you very much for your call. I believe also, Robert, you wrote about people who did tell a prospective date, and that in fact was the end of it, that suddenly because people can see - think that they can see into potential, as I said earlier, plotline in your DNA, that it may turn out this way, or the odds are higher that it may turn out this way, you're suddenly perceived as damaged goods, and your datability goes down. Did you see much of that?
KLITZMAN: Yes, that happens, particularly with Huntington's disease, and one concern is that as we go forward, as more and more people are tested - and soon when you walk into your doctor's office, at some point in the near future, your whole genome will be tested. And so we'll each know information or have the possibility of knowing information about our mutations.
And it is possible in the future, when you date someone, they may say, well, I know what my mutations are and what I'm a carrier for. What are you a carrier for? What are your mutations? And people may say hmm, you have that carrier gene for autism.
DONVAN: Do you really see that coming?
KLITZMAN: I do. And for several reasons. One is the cost of sequencing the three billion letters that make each of us, the three billion molecular letters, has gone from - 10 years ago it was $10 billion, then it went to $1 billion to $1 million, and now it's only a few hundred dollars. It's basically $900 to test your whole - the three billion letters that make us.
And if you walk in the door of the Mayo Clinic today or Vanderbilt University Hospital or many other hospitals, they will take a sample of your DNA to store it so that they will be able to sequence it and have a bio bank. And most major medical centers in this country are trying to figure out how to build such bio banks because on the one hand it can lead to personalized medicine.
We can know what drugs work best, will work best you for a particular condition, but...
DONVAN: But then we will also know what's in there that can't be cured and can't be treated.
KLITZMAN: Well, exactly right.
DONVAN: All right, we're talking with Robert Klitzman, author of "Am I My Genes?," about - we're not just talking about genetic testing. We're talking about the implications of knowing the results and what do you do after that. We're asking for you, if you're living in this experience right now, to call and share with us what your decision-making process is. Our number is 800-989-8255. Our address on email is email@example.com. We'll be right back. I'm John Donvan. This is TALK OF THE NATION from NPR News.
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DONVAN: This is TALK OF THE NATION from NPR News. I'm John Donvan. For his new book, Dr. Robert Klitzman interviewed 64 people who underwent genetic testing and learned that they might face Huntington's disease, breast cancer and another illness known as alpha. Many people elect to undergo genetic testing outside of their doctor's care, and then they struggle with whether to divulge what they've learned to their physicians.
Some worry that the information is going to become part of their permanent medical records or that doctors might report what they learn to insurance companies or employers. It's a tricky business and one that's only truly come to light in the last 26 years since investigators identified the first mutation for Huntington's.
You can read more about the history of testing in an excerpt from Dr. Klitzman's book "Am I My Genes? Confronting Fate and Family Secrets in the Age of Genetic Testing" at our website. Go to npr.org, and click on TALK OF THE NATION.
And if you've undergone genetic testing, what do you wish other people understood about it? What do you wish you knew before going into it? Our number is 800-989-8255. The email address is firstname.lastname@example.org. And you can join the conversation at our website. Go to npr.org, and click on TALK OF THE NATION.
And going to the subtitle of your book, "Confronting Fate and Family Secrets in the Age of Genetic Testing," family secrets, that's what you're creating, it sounds like, when you get a genetic result, particularly if the result is positive; that you've created a secret.
KLITZMAN: Yes, it's exactly right, and often there are reasons that people in the family may not want to know each other's results. One, is because people may be upset. If you find out that you have a mutation, it means that maybe I can have a mutation, as well, say, for breast cancer. Also, sometimes people say, you know, I'm going to apply for life insurance and disability insurance, and the insurance company will probably ask me has anyone in my family ever had a genetic test, and if so, what was the result?
And so if you get a genetic test, I don't want to know because I know you have breast cancer, and I know you're thinking about it, but please don't tell me because this way I can say I don't know, and otherwise if I say, oh yes, my mother or my sister has a mutation for breast cancer, I may be denied disability insurance or life insurance. And so there are other reasons as well why increasingly there may be secrecy, unfortunately, about some of these issues in families.
DONVAN: What are the laws, then, with insurance companies in terms of getting a test result, that if you take one outside on your own, and there's no - you know, it's a mail away kit, and these things exist, and you take it outside on your own, and you keep it to yourself, I suppose there's no way the insurance company would know that you've done your own test, and you know your results?
KLITZMAN: That's correct, but then you face a problem. Should I tell my doctor that I have this mutation that can affect my health? And the problem is if you tell the doctor, the doctor will no doubt write it in the medical chart, and if you apply for life insurance or disability insurance or long-term-care insurance, the insurance company may well ask to see the chart and see that information there.
There is the Genetic Information Nondiscrimination Act, or GINA, that became law about a year and a half ago. But it applies only to life insurance and does not apply to all life insurance. So it does not include disability insurance and life insurance and long-term-care insurance. So these are areas that I think we need to think together if we need to have more policy, and I think that we should.
DONVAN: When you talk with people about whether they should tell their bosses, say a career professional who's making his or her way up through middle management discovers that he or she has the gene mutation for Huntington's, and that person's parent, who also had the mutation, died at the age of 55. Have the people you've spoken with decided the ethical question of whether you should tell your boss I'm probably not going to be here when you would want me here, or are people more wrestling with the question of I need to protect myself, and the ethical thing to do is to keep this to myself, and the unethical thing would be for my employer to discriminate against me because of this.
KLITZMAN: Right. Well, it's a terrible choice to have to make. And the problem is that there is often subtle discrimination that goes on. So what people told me, as I describe in the book, is that, you know, everyone thought I would become the next head of the department when the head of the department retired. And, but I had this test, and I told a few people at work, or I told a work friend or colleague that I had this mutation, and when it came time to replace the boss, I was not chosen. I was passed over.
I wasn't fired, but I think it was because I had this mutation. I can't prove that. And again, that's the kind of subtle discrimination that goes on. And we know even if you look at discrimination on the basis of race or gender, one piece of legislation does not get rid of racism or gender bias.
And so these are subtle, very difficult issues that we will continue to have to deal with, increasingly, I think.
DONVAN: Let's bring in Pat from Woodacre, California. Pat, you're on TALK OF THE NATION, welcome.
PAT: Hi, thank you so much. I've had a very interesting experience with genetic testing, which is I decided to do it privately, just for fun, as you will, about three years ago. It was 23andMe, which is a company out here in California, in Menlo Park.
DONVAN: You were just curious?
PAT: I was just curious. I'm a psychologist. I'm sort of a data-gatherer by personality, and I thought this will be very interesting. And some family members were also doing it, and we have shared results.
So for me, it was interesting to get back the results and see that I'm less likely than the general population, say, to get Parkinson's. I am slightly more likely to get arterial sclerosis, which gave me the possibility of OK, control your diet and exercise more. But then something interesting happened for me, which is I got a notice from them that now they could test my (unintelligible), which is what I sent them, to see whether I was likely to get Alzheimer's.
Now that's a fear I carry because my mother - it doesn't run in the family or anything, as far as I can tell, but my mom died of it five years ago, and it wasn't pretty, at 89. And I thought, you know what? That would be great to know. And then I thought, you know what? I don't want to know. What if I have a propensity to Alzheimer's, and that's just going to shadow my future, and I'll always be wondering about it, so...
DONVAN: It sounds like you had a change of heart about the seriousness of this whole thing, that initially it was a bit of a lark for you, and then it began to be - to have a great deal more impact on you.
PAT: Yeah, it remains interesting when I get all kinds of additional results they come up with on my first sample, but it's nothing I have an emotional charge on. It may say oh, I don't think I'd really like to come down with that. I've slightly more risk for this or that, like the arterial sclerosis. But it doesn't have an emotional charge, and the Alzheimer's does.
I did look at my BRCA1 and 2 results, which is the breast cancer gene, and not to any surprise, I do not carry them, even though they are common in my background of Ashkenaz Jew. But nobody in my family has ever had breast cancer that I knew of. So I didn't have a charge on that, but boy did I have a charge on the Alzheimer possibility.
DONVAN: And then you didn't want to know, interesting, interesting.
PAT: I really didn't what to know. I thought about it a lot. I thought well, wouldn't it be good to know, you could kind of prepare. And then I thought, you know what? It really wouldn't be great because then you'd be constantly wondering, am I about to start (unintelligible).
DONVAN: All right, Pat, thank you very much for your call, and a lot of insight in that, appreciate. I want to bring in Joseph in Fredericksburg, Texas. Hi, Joseph, you're on TALK OF THE NATION.
JOSEPH: Hi, thanks for taking my call.
JOSEPH: So yeah, I have - I was diagnosed with Huntington's in October 5th of '99, after my mother had spent years in and out of doctors trying to figure out what was going on. Of course, I found that out, I wanted to know right away. My sister chose not to do that. At that time, I was already - my wife at the time was pregnant with a son, and the state of Texas, as I understand it, won't allow you to do any testing on something of that nature. They have to chose to do that on his own.
So he's possibly at risk. I have now an 18-month-old child and a wife pregnant with another baby that were both done through a sperm donor, so as to completely rule out the possibility of passing on Huntington's. So, you know, it's awkward when my son makes comments, or friends, when they comment about how much the baby looks like me or behaves like me.
And, you know, he's 12 now, difficult to engage in that - don't even want to engage in that conversation with him until he's older. I feel like he's not ready, big bag of genetic unknowns there to talk about at some point.
DONVAN: Yeah, I mean, and how are you ever going to be ready for that conversation? Do you think about this frequently, or do you push it far, far from your mind?
JOSEPH: When I first found out about it, it was pretty hard. Like your guest has mentioned, a lot of people have difficulty dealing with that. I do spend time thinking about it. I spend a lot of time just trying to figure out the best way to broach the subject when it's appropriate to do that with my son. And, you know, of course it also will mean that my eldest will find out sooner, of course, than the new children, which will sometime have to be told, as well.
DONVAN: You know, I asked a caller earlier would you rather not know? How do you feel about that?
JOSEPH: You know, I think it's - if you are going to have children, specifically, I think it's negligent. I think, you know, with something like Huntington's, which you can't really - it's (unintelligible) medical ability can't stop or prevent, you know, I think it's too risky to do that.
And then second, the other side of that is, you know, how do you deal with never knowing? That seems like that would drive me crazier than knowing about it.
DONVAN: Well, I mean, now that we know you can know is a different thing from - I was asking you whether you lived in a world where you couldn't know, where there wasn't - where that discovery had not been made about the gene. But I think you've answered my question. I just want to bring Robert Klitzman back into it because I heard you draw a breath.
KLITZMAN: Yes. I think, just so your listeners know, there is the possibility now of screening embryos to make sure they do not have certain mutations, and this is now being done for Huntington's disease, as well as breast cancer. And what happens is - involves in vitro fertilization. And we can then see, before we implant embryos into the woman's body, we can see which ones have a mutation like Huntington's and which don't.
So many people who are at risk of Huntington's or who have the mutation are making sure that their children do not, through this procedure. Other people are deciding to, as you say, to buy or obtain sperm or eggs from someone else. But there is this possibility of what's called pre-implantation genetic diagnosis that allows people to make sure that it's not passed on.
DONVAN: But that would - that involves tossing embryos. That involves tossing - in other words, if somebody is on the spectrum of opposing abortion, that would almost definitely not be an acceptable outcome for them.
KLITZMAN: Correct. It's a controversial procedure, as many issues involving assisted reproductive technology are. What happens often is people will freeze the other embryos, but you're - there are going to be embryos that are not used at the end. That is correct.
DONVAN: Thank you very much for your call, Joseph. Let's bring in Paula in Lansing, Michigan. Paula, you're on TALK OF THE NATION.
PAULA: Hi. My family have a history of breast cancer and cervical - or not - ovarian cancer. My sister has breast cancer. My grandmother died of ovarian cancer. I have several aunts who had ovarian or breast cancer. And about five years ago my daughter had graduated from high school, and we talked about our family history.
And I discovered then that there was a genetic test to see if we had the gene that causes breast cancer and ovarian cancer. And for myself, I didn't want to know. I didn't want to know at all. But my daughter was worried. She was concerned, and so I had the test done for her.
DONVAN: You did it for your daughter.
PAULA: Yes, for her, so that I would know, and I could tell her, yes or no, I have it. And then she could decide then if she wanted to be tested for it. And...
DONVAN: Well, I want to understand that better because there she's making a decision, she doesn't want to test. She wants you, in a sense, to run interference for her. And if your test was positive, then she would have to get a test. I just find what - that's such a complex arrangement.
PAULA: Yes, but she was only 18. It was...
KLITZMAN: That's not that unusual, by the way.
DONVAN: Oh, interesting.
PAULA: And to have - for her - you know, she was losing sleep about it because one thing, my mother had just passed away from ovarian cancer at that time. And we decided then that I would go ahead and get the test. And luckily - it was a good thing because we discovered I didn't have the gene. Now, my sister had it done, and she does have the gene. The wonderful thing about my not having the gene means that my daughter does not have the gene.
PAULA: They said that there's no way that it could be passed unless it came from me.
DONVAN: Paula, I want to thank you for that call. I have to take a very slight break, but I want to thank you for that call and for the honesty. It sounds like it was all around a difficult process, but it had an outcome that gives you some relief. Thanks very much for your call. You're listening to TALK OF THE NATION on NPR.
Robert Klitzman, you said that what Paula's daughter asked her to do is to test for her so that she wouldn't have to test, which I found surprising, but you said actually it's not very unusual.
KLITZMAN: Correct. That happens often because if I've had breast cancer and I test, my - it won't affect my insurance. So - and it'll give peace of mind to my children. Whereas if a young person tests, it could be on their record that they, in fact, have the mutation.
Also, sometimes there are mothers who say to their daughters, I'm really worried that you're going to get this. And the daughters will, quote, put their head in the sand or not want to deal with it as the mother may want. And the mother will say, well, I'm going to test and if I'm positive, it's going to show you just how much you are at risk as well. So these issues of genetic testing become enveloped in other family dynamics...
KLITZMAN: ...that can make them complicated.
DONVAN: Example right there. Let's bring in Gordon from Charlotte, North Carolina. Hello, Gordon. You're on TALK OF THE NATION.
GORDON: I can't hear you on my phone. My mother was in one of the earliest tests for Huntington's chorea. And when she found out her test results, we were still in high school, and that was a good number of years ago. And she said that I was - the rest of the kids - she was able - or tested positive (technical difficulty) later died of it and were tested positive at that time. But I myself haven't been tested. I've got kids now of my own, and I'm in fear - if I get tested or wind up being positive of what might, you know, happen insurance-wise, you know...
GORDON: ...if I have that pre-existing condition.
DONVAN: All right. Gordon, I'm going to ask Robert Klitzman to go to that question, and I'm going to let you take the answer offline because the quality of the phone line is not perfect. So thanks very much for calling us. And Robert, I mean, again, the insurance question keeps coming up. And you've already said, actually, people are not 100 percent protected against that sort of risk.
KLITZMAN: Right. So, as I said, particularly for disability insurance and life insurance, there's no legal protection whatsoever. For health care, there is this law, GINA. It's not yet been fully tested, and so many people at risk of Huntington's in particular are a little bit wary of whether the law will, in fact, in real life, completely protect them. What I'd recommend is that you speak to a genetic counselor. Sometimes there are laws in states also that vary state to state, to see what makes most sense for you as an individual if you're debating this issue. But it is a very difficult decision to make. I should say with genetic tests, sometimes the results are, quote, "actionable." That is, the for Alpha-1 antitrypsin deficiency, an enzyme deficiency that I described in the book...
DONVAN: You can do something.
KLITZMAN: You can do something. And for many tests there are things you can do. Unfortunately, for Huntington's at the moment, there's not, but you can plan your life accordingly.
DONVAN: Well, Robert Klitzman, I want to thank you for joining us. You're a professor of clinical psychiatry and director of the Master's of Bioethics Program at Columbia University. And your new book, "Am I My Genes: Confronting Fate and Family Secrets in the Age of Genetic Testing," an excerpt on our website. I'm John Donvan. This is TALK OF THE NATION from NPR News.
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