The good news out of this is the much lower rate of false positives compared with traditional screening. But what I think is important here is that it’s potentially so easy and accurate to do this testing, that I hope it will continue to be done with full discussion and informed consent regarding the implications, and without judgment about whether or not women ought to pursue this testing. What’s in the background of decisions about testing is the question of abortion, which is as personal and value-laden a decision as anyone can make. As a result, discussion of the fact that testing may lead inevitably to decisions about abortion has to be a part of the conversation from the beginning.
The concepts of prenatal screening and diagnostic testing have been around for a long time, so in principle they are not new to obstetricians and their patients. Prenatal screening should be performed only with full consent, and with discussion of the potential downstream implications and questions that women and their partners may need to confront, similar to chess where you are thinking three moves ahead. The discussion should address what will happen at the point of the first test, including the possibility of a further diagnostic test, and then where things will go if the fetus is found to have one of these trisomies.
My concern is that because this new testing technology is easy and accurate, and greatly reduces the potential for anxiety caused by false positives, there might be the assumption that it’s a good thing to do for all women. My own view is that it will be good for some, and not for others. You want to be sure where your patient stands before you embark on this pathway. You want to be sure of the woman’s and her partner’s values before you offer this testing as something that will inform decisions about whether to bring the pregnancy to term.
In addition, I suspect it is inevitable that we will move in the direction of using this technology to test or screen for a whole list of other genetic conditions. We should be talking about whether or not that’s a good thing. For example, some women know that they are BRCA1 carriers, and they will ask their obstetricians if they can use this technology to test for conditions like that. Clinicians will need to start expanding their resources for patient education about genetics, and for genetic counseling of these patients, in order to be prepared for these kinds of questions.
Dr. Steven Joffe, a pediatric oncologist and bioethicist, is vice chair of medical ethics at the Perelman School of Medicine, University of Pennsylvania, Philadelphia, and an attending physician at the Children’s Hospital of Philadelphia. Dr. Joffe had no conflict of interest disclosures.
