Genome data Fear confusion and ethics

I’ll admit that I sometimes get impatient with the ethics debates surrounding genomic data and medicine these days.

I do understand that much of it is reasonable, and I even champion their importance from time to time. But it is often an ethicist's job to think about worst-case scenarios and how to prevent them. And once the focus shifts to negative potential, even if somewhat far-fetched, it can easily stymie the realization of robust benefits. In other words, how much hand-wringing do we have to do before we can forge ahead with better medicine?

So maybe it was good that I was brought to a screeching halt by a recent blog post from “Mike the Mad Biologist,” who pulls no punches with opinion or profanity. I was drawn in by the title “But Nothing Could Go Wrong With Widespread Genomic Testing,” and it didn’t take long for Mike to prod me into startled laughter.

After saying he sympathizes with direct-to-consumer (DTC) genomic proponents on various levels, the Mad Biologist unleashes his counter argument: “But the public health side of me, like the hedgehog, knows one very simple thing: people are [expletive deleted] morons. If there is a way to screw something up, or misuse it, they will.”

He then cites the recent case involving a child who carries genetic mutations associated with cystic fibrosis but has no symptoms. The child was barred from his school, based on the thinking that he posed a threat for infection for other children at the school with symptomatic CF. The situation is not as straightforward as it might first appear—certain infections are dangerous to CF patients, and those with the infections are kept away—but it appears that it was fear of the potential, not the danger of the current reality, that led to his barring from school.

Fear of the unknown and lack of nuanced understanding has launched many injustices throughout history, and both are currently associated with genomic data. But how do we take their potential misuse seriously while not impeding needed progress? Nature Reviews Genetics asked a panel of five experts, including those on the frontiers of genomics research, clinical genomics, and ethics, to comment on a series of questions surrounding this topic. How are genome data different from other medical data? What findings should be returned to the patient? They also weigh in on what clinical sequencing infrastructure will best serve patients’ needs and what challenges must be overcome now for it to fulfill expectations in the future.

It’s a long article and difficult to summarize, but it presents excellent information and a broad range of concerns. I think it should be required reading for all healthcare professionals as a quick primer about the current reality and some of the issues they’ll soon face. For while the five experts provide an array of perspectives, they are bullish on clinical genomics playing an ever greater role in future medicine.

Finally, looping back to the subject of my linked post about non-invasive prenatal sequencing, Ben Berkman, deputy director of the Bioethics Core at the National Human Genome Research Institute, recently discussed the topic for GenomeWeb’s Genome Technology publication. Not surprisingly, he has many worries about the medical system’s readiness to handle the new technology.

Current prenatal testing focuses on specific and severe conditions. But what if we can test for just about everything, as whole-genome sequencing gives us the ability to do? Berkman notes: “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.” Not surprisingly, he doesn’t follow the Mad Biologist's lead and characterize people as morons, but the subtext is that he is well aware of the potential for powerful prenatal testing to be misused.

Using genomic data for greater understanding and clinical benefit is noble. Using it as an identifier is dangerous. And using it to influence decisions during pregnancy for non-medical reasons is, well, disturbing. While I don’t harbor Mike’s disdain, if not hostility, for the populace as a whole, I understand it. And I hope that, as in the Nature article, the hand-wringing ethicists, the charge-ahead researchers, and the forward-thinking but pragmatic clinicians can join forces to channel genomic progress in ways that help clear away the fear and confusion that presently clouds the field.