A recommendation earlier this year that people should be told of specific risk factors that lurk in their DNA, regardless of whether they want to know, has sparked an ongoing debate among physicians and ethicists.
At the annual meeting of the American Society of Human Genetics in Boston this week, a panel debated a slight twist on that question: If clinicians are obliged to tell the patients they are treating of certain unexpected risk factors spotted when their DNA is sequenced, should scientists who are studying people’s DNA in research studies do the same with these so-called incidental findings?
Genome researchers have often used an analogy to imaging when talking about the possible responsibility to alert patients to genetic risks. Radiologists would not avert their eyes from a tell-tale mass seen in a medical scan done for other reasons; why should telltale signs in a person’s genome be ignored?
Ellen Clayton, a professor of pediatrics and law at Vanderbilt Law School, argued that the comparison to medical imaging was a poor one—in large part because of the amount of data that needs to be carefully examined when analyzing someone’s genome, and the overarching lack of certainty about what most of it means.
She argued forcefully that researchers should not have a “duty to hunt” for secondary findings. Such a hunt would divert resources away from research and would be complicated by the fact that even with relatively well understood genetic risk factors, such as the cancer risk linked to mutations in the gene BRCA1, those mutations have turned out to be less predictive as they are found in the general population.
Others pointed out that research is a distinctly different setting from one in which a physician is caring for a patient; participation is voluntary and participants are explicitly told that their participation has almost no chance of helping them individually. One reason offered in support of informing research subjects about incidental results may be that it would attract more people into research studies, but several people disagreed that should be exploited.
“I don’t think we should turn research into a mechanism for satisfying curiosity,” said Jim Evans, professor of genetics and medicine from the University of North Carolina School of Medicine, joking that another way to attract more people to research studies would be to offer them a toaster.
Misha Angrist, an assistant professor at the Duke Institute for Genome Sciences and Policy, argued, however, that though researchers may inform participants there is likely to be no benefit to them from participating in a study, participants don’t see it that way. They are hoping for a diagnosis or to be guided toward a treatment.
Angrist said that he believes returning incidental findings to patients is going to be inevitable, and that it is a matter of creating the correct incentives and systems to make that information exchange routine.
He said that in a small study of infant genomes, nearly all the parents wanted to keep in touch with the research team and be informed of secondary findings. He noted that in one study he has been involved with, researchers found that a participant harbored a gene mutation that causes malignant hyperthermia, a potentially deadly reaction to anesthesia drugs. That patient was scheduled for a surgery and Angrist said that his team informed the family of his genetic risk beforehand, without worrying about whether they were blurring the line between research and clinical care.
From an outsider’s perspective, 2013 has been the year when people got serious about talking about the ethical and practical aspects of incidental findings in genomics. Of course, the state of knowledge of the genome has continued to inch forward, and the technologies and services available to read the genome have continued to evolve, but the big public discussion of the flipside of all this information has been the biggest noticeable shift.
What do you think the big areas of progress will be for the science of human genetics next year?