The Ethics Of Genetic Tests For Would-Be Parents

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Dr. Jeffrey Botkin, a pediatrician and bioethicist at the University of Utah, speaks to NPR's Michele Norris about the ethics of genetic screening for childhood diseases. He says the key is education of the prospective parents before doing the testing, plus the timing of the screening.


Now we're going to discuss some of the practical and ethical questions raised by this degree of genetic screening. I spoke earlier today with Dr. Jeffrey Botkin. He's a bioethicist and professor of genetics and pediatrics at the University of Utah. He says the test poses challenges for would-be parents who find they are both carriers of the same genetic mutations.

Dr. JEFFREY BOTKIN (Genetics and Pediatrics, University of Utah): So the initial question would be how to deal with this information as it flows. And one of the things that is always a concern from an ethical perspective is making sure people accurately understand that information.

We have a history from the 1970s in which sickle cell screening was conducted in the population. And there was quite a bit of misunderstanding about carrier status. People misunderstand that terminology. They may think that they have the disease and that may create problems with their own emotional reaction, as well as the possibility of discrimination.

NORRIS: Within the framework of the information that's already available through testing, in your experience, what do couples who discover an increased risk of having a child with a genetic disease generally do with that information? What kinds of options are available to them?

Dr. BOTKIN: Of course for couples who find that they are at risk prior to pregnancy, they have a large number of choices. Adoption might well be a choice, egg donation or sperm donation would be a choice. They may choose to proceed with becoming pregnant and then evaluate that pregnancy for whether the fetus is affected and if so, then make a decision about whether to terminate that pregnancy or not. If testing is conducted once pregnancy has begun, then, of course, the choices are much more limited.

NORRIS: Now, some people are already saying this should raise alarms because it could lead more abortions. It could lead to the stigmatization of certain diseases or parents who are carriers for those diseases. On the other side, could you also argue that this perhaps could lead parents to better prepare for a child that might have special needs?

Dr. BOTKIN: Oh, absolutely. And I think that that would be logical - a flow of information to folks who'd want to make decisions, understanding that the child was going to be affected, about how best to care for that child, perhaps what hospital would be best to deliver that child. And to make sure that the appropriate experts were on hand to deal with the nature of that condition.

NORRIS: Are doctors prepared to handle these kinds of discussions?

Dr. BOTKIN: I would say physicians are not prepared to handle this type of discussion at this point. And what the literature tends to show is that there's less than ideal level of conversation around the carrier testing and prenatal testing that is already available.

NORRIS: Parents hope and pray for healthy children. And they might do whatever they can to ensure that that happens. I'm just wondering if this moves the country potentially into a very uncomfortable zone. You've been talking about genetics, but on a societal level, does this raise the whole question of eugenics?

Dr. BOTKIN: Well, it certainly does to some extent. And I think the focus of this paper is on serious childhood conditions. And that's the sort of testing that's been less controversial than other sorts of testing or other sorts of reasons to terminate a pregnancy.

But we would have to wonder whether opening the door to this line of testing might then invite next steps which would be testing for conditions that were less severe or potentially for traits that really were not health-related traits at all.

NORRIS: Dr. Jeffrey Botkin, thank you very much.

Dr. BOTKIN: Thank you, Michele.

NORRIS: Dr. Jeffrey Botkin is a pediatrician and a bioethicist at the University of Utah.

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