Within a few years, prenatal whole-genome sequencing may be a realistic option in obstetricians' offices, according to Ben Berkman, deputy director of the Bioethics Core at the National Human Genome Research Institute. Will doctors and patients be prepared to handle all of the genetic information contained in fetuses' genomes? Berkman recently told GT's Matt Jones that it is time to start gathering data on how these fetal genomes will be used in the clinic. What follows is an excerpt of their conversation.
Genome Technology: In a recent paper in the Hasting Center Report, you and two colleagues say whole-genome sequencing may pose new ethical questions. How far away is prenatal whole-genome sequencing?
Ben Berkman: No one is doing prenatal whole-genome sequencing yet. But [the paper] was spurred in part by the rapid adoption that we've seen of this technology in the research setting — both in pediatric and adult research populations. My best guess is that this could become the standard of care that OBs could regularly offer to women who can afford it.
GT: Your paper suggests that the medical system may not be ready for prenatal whole-genome sequencing. What are your concerns?
BB: We worry that prenatal whole-genome sequencing could change the norms and expectations of pregnancy in ways that complicate parental autonomy and informed decision making. We worry that it could exacerbate the deleterious role that genetic determinism plays in child rearing. And we are, maybe most importantly, worried that if we regularly do this expansive testing, it could undermine the child's future autonomy by removing their option not to know genetic information.
If you think about what is going on right now with genetic testing prenatally, we are testing for serious conditions, where maybe you can do something about it. And so, in those situations there is good reason to be testing. There is sufficient justification for testing. The worry is when you start testing for everything. Well, why are we testing for everything? What are you going to do with that information?
If we move away from targeted risk-based prenatal tests and shift to prenatal whole-genome sequencing, first, the amount of information generated is going to be massively increased, and, second, you're going to expand into new categories of information.
It's going to generate information not just about diagnostics for severe conditions. You're going to be generating information about non-medical genetic markers. Whole-genome sequencing would produce information about conditions with late onset.
GT: You say there is a need for studies to look into how prenatal whole-genome sequencing will be used in the clinic. What do you want to know?
BB: We are in no way saying that this technology is bad. Technology is generally morally neutral. It's how it is used. We should be thinking very hard about delineating a responsible strategy for adopting prenatal whole-genome sequencing into clinical practice — thinking about its clinical and ethical ramifications.
We would want data that explores the kinds of information that parents would find relevant to reproductive decision making and how they would use it. We would want some data on whether genetic information would actually harm or benefit children.
Most importantly, we would want to look at the healthcare system and collect data about how it needs to evolve.
Our worry is that [whole-genome sequencing] will be adopted extemporaneously; that it will be driven by the market and consumer demand, rather than by evidence and the scientific community. So, we think that rather than jumping into this technology, we should take it slow. And part of that is collecting a lot of data and thinking it through very carefully.