Home > Focus > Genetic Testing and its Implications: an interview with Dr. Arthur Caplan Genetic Testing and its Implications: an interview with Dr. Arthur Caplan by Jeff Ubois [1] , 25 November 2006 Currently, Dr. Caplan is the Emmanuel and Robert Hart Professor of Bioethics, Chair of the Department of Medical Ethics and the Director of the Center for Bioethics at the University of Pennsylvania in Philadelphia. Born in Boston, Caplan did his undergraduate work at Brandeis University, and did his graduate work at Columbia University where he received a Ph.D in the history and philosophy of science in 1979. Caplan is the author or editor of twenty-five books and over 500 papers in refereed journals of medicine, science, philosophy, bioethics and health policy. He has served on a number of national and international committees including as the Chair National Cancer Institute Biobanking Ethics Working Group, the Chair of the Advisory Committee to the United Nations on Human Cloning, the Chair of the Advisory Committee to the Department of Health and Human Services on Blood Safety and Availability, a member of the Presidential Advisory Committee on Gulf War Illnesses, the special advisory committee to the International Olympic Committee on genetics and gene therapy, the ethics committee of the American Society of Gene Therapy, and the special advisory panel to the National Institutes of Mental Health on human experimentation on vulnerable subjects. He has consulted with many corporations, not for profit organizations and consumer organizations. He is a member of the board of directors of The Keystone Center, Tengion, the National Center for Policy Research on Women and Families, Octagon, Iron Disorders Foundation and the National Disease Research Interchange. He writes a regular column on bioethics for MSNBC.com. He is a frequent guest and commentator on National Public Radio, CNN, MSNBC, the New York Times, Washington Post, Philadelphia Inquirer and many other media outlets. Caplan is also the recipient of many awards and honors including the McGovern Medal of the American Medical Writers Association, Person of the Year-2001 from USA Today, one of the fifty most influential people in American health care by Modern Health Care magazine, one of the ten most influential people in America in biotechnology by the National Journal and one of the ten most influential people in the ethics of biotechnology over the past ten years by the editors of the journal Nature Biotechnology. He holds seven honorary degrees from colleges and medical schools. He is a fellow of the Hastings Center, the NY Academy of Medicine, the College of Physicians of Philadelphia and the American Association for the Advancement of Science. Jeff Ubois: The high-level issue that I wanted to talk about was what we're calling responsibility in innovation. If you make innovations like prenatal sex selection the results is that the gender balance in a country changes dramatically, that affects the politics of the place. So, I'm looking for bridges between the world of politics and innovation, how to bridge those two cultures. And it seemed like you've managed to land kind of right in the middle there, at least on a number of occasions. What's sustainable innovation? What tools can people use to look at likely effects or to manage it, what kinds of innovation should or should not be funded? And so on. So, could we start maybe with the specific issue of prenatal sex selection? I know you've done a lot of ... So could we start with the issue of prenatal sex selection and the ethics around that and how you would frame the problem, what kinds of screening is appropriate or inappropriate, what kinds of screening should, shouldn't, mustn't be done for physicians to be ethical as practitioners for parents to be ethical as parents? Art Caplan: First, with genetic screening, you have to divide it in a couple of ways. We usually refer to screening as something you do to adults. And you could be screening adults for diseases that they might want to know about because they're going to make certain reproductive decisions. So, we know that we can test people, for example, for Tay-Sachs disease or Sickle Cell disease or Thalassemia and find out whether they are at risk of passing those diseases along to their offspring with higher probability. You can even do it before people marry and see whether they're going to have children if they did get married, that would have diseases. And you could either urge them not to get married or urge them not to have children, urge them to think about adoption. So, the issues of reproductive choice around genetic screening are complicated. For example, on the Island of Cypress on it's hard to get married by the Greek Orthodox Church unless you undergo a genetic test for Thalassemia. Jeff Ubois: What has been the effect on marriage, society and public health? Art Caplan: They've reduced the incidence of Thalassemia, which is like a Sickle Cell type disease, significantly. I don't think that people find it intrusive, but you can get married outside the church. You know, it's not the only way to get married. There has been a spread of the program without the same marriage connection, but with more encouragement to get testing of people into the rest of Greece and into parts of Italy. Jeff Ubois: Who drove that choice inside the Greek Orthodox Church? Art Caplan: That's a great question and I don't know the answer. I don't know how the church engaged the issue, but I do know this: The church, for many years, was responsible for health care. They were underwriting the costs. And the costs of treating kids with Thalassemia, blood transfusions and so on, was just overwhelming them. Jeff Ubois: So, it was an economic driver, but there were a variety of screens and tests that can be done prior to marriage, prior to birth. Art Caplan: For that type of genetic screening, you basically want to say, "Well, how is that done responsibly and who should do it?" So, part of the principles you look to there are you don't want people forced or coerced into having to undergo genetic screening. One principle that seems important is that you don't have a competent adult coerced, forced into genetic testing that they don't want, that it should be up to them to decide whether or not they want to know information about their genes. Jeff Ubois: OK. Art Caplan: And partly because there are many ways in which they could be penalized. If they are found to be at risk of having a disease, they could lose health insurance, disability, maybe even employment in some parts of the world and you know, it's one of those situations where you have to make a trade-off or make a decision. Jeff Ubois: One might argue that someone else's kids will affect society for the rest of their lives. Art Caplan: Yes, but since we basically, allow reproductive freedom in having kids, we don't stop people who know they have genetic diseases from having kids. We don't stop that, so to speak. The only place that seems to have put in a policy to discourage that was actually Singapore, which was trying to give incentives to smart people to have more kids. Jeff Ubois: Right, I want to talk about enhancement, in fact. Art Caplan: In general, if you accept the idea that reproductive freedom not being interfered with is a basic right, then it's hard to restrict on the basis of the risk that you might create children with burdens or costs. So that leads to the idea that genetic testing ought to be voluntary. And you don't want to have screening without counseling because a lot of these issues are complicated and it's hard for patients and their doctors to understand probabilities associated with many of these diseases. Rarely will there be a certainty that a couple is going to have a baby with a genetic disease. You may have an increased probability for some of them. Like hemophilia, women are carriers, but men have the disease and that has to be carefully explained. Some genetic diseases like breast cancer, if you find out you carry the gene, it does put your child at risk, but it may be a disease that's not going to appear for 50 years. So, you may say well, in 50 years, maybe we'll cure breast cancer, so I need not worry about that too much. So, there are all sorts of issues that require thoughtful counseling. Jeff Ubois: Are there any screens that you think, beyond coercive screens, that should never be done or that shouldn't be done? Art Caplan: Um, I think that there are some people out there, offering tests on the Web, that either aren't accurate or aren't proven to be reliable tests. Let me give you a simple example. If you look on the web, there are people saying, "Get this genetic test and we'll design a diet that meets your health needs." Well, I think that's a lot of nonsense. I think that they don't know how to do that and those tests aren't real, but they charge you a lot of money. There are other people who say, "Let me test you and I'll tell you who your ancestors are." But again, that's a questionable area, in terms of really being able to make sensible statements such as Columbus or Henry the VIII was your relative.