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Panel Issues Guidelines on Incidental Findings in Genetic and Genomic Studies

NEW YORK (GenomeWeb News) – A team of experts from across the country has issued new guidelines for dealing with unanticipated findings during genetic, genomic, and other research.

In a two-year project supported by a grant from the National Human Genome Research Institute, a team of 21 experts from several fields developed guidance for “incidental findings” found during genetic and genomic research or imaging studies. The guidelines appeared in the summer 2008 issue of the Journal of Law, Medicine & Ethics, which contains a 17-article symposium devoted to incidental findings.

“Incidental findings are a fact of life in research,” lead author Susan Wolf, director of the University of Minnesota’s Joint Degree Program in Law, Health and the Life Sciences, told GenomeWeb Daily News. “They are an intrinsic risk of doing any kind of research.”

Incidental findings are unexpected findings that researchers stumble onto in the course of other research that affect a subject’s health or well-being. For instance, investigators may notice a suspicious mass during unrelated imaging studies, Wolf and her colleagues noted. Or researchers doing a genomic study might detect unexpected genetic abnormalities in a participant’s sample that herald an existing or future health problem.

Even though incidental findings are an important issue for researchers, there is a “complete lack of guidance on how to handle incidental findings in genetic — and the emerging field of genomic — research,” Wolf said.

Consequently, those encountering these unanticipated results may not know if or when they should share the information with participants. To address such issues, Wolf and her colleagues — a group of experts in related fields such as genetic/genomic research ethics, institutional review board authorities, and so on — came together to discuss incidental findings and develop a consensus on how to deal with them.

The team concluded that it’s crucial to consider incidental findings from a project’s outset. “This should be an integral part of the informed consent process,” Wolf said, adding that institutional review boards should look for evidence that researchers have considered incidental findings and require that they come up with appropriate ways of dealing with them.

“Researchers have an obligation to set up a process for recognizing [incidental findings], verifying whether there is indeed a suspicious finding of concern, and offering the finding to the research participant…for clinical evaluation and follow-up,” the group wrote.

Even so, Wolf noted, the informed consent process should also leave it up to participants to decide whether they want to be informed about incidental findings, when present. “Overwhelmingly, in the world of genetics and genomics, we don’t force information on people,” she said.

The idea that researchers have a responsibility to inform participants about informed consent is part of a larger trend toward returning research information to research subjects, Wolf noted, with many advocating a move toward increased openness in genetic research. “We’re at a very, very interesting juncture,” she said.

But not every incidental finding is worth reporting to subjects, the group decided. They made clear distinctions between revealing different types of incidental findings depending on whether doing so would offer a clear net benefit to the participant or whether it offered a possible or unlikely net benefit.

They recommend informing participants in the case of clear net benefits, where researchers know the meaning of the results — for example, if researchers discovered that a subject had a well-validated serious pharmacogenomic association.

In situations in which the net benefit is unclear, they recommend leaving it up to the researchers’ discretion, to be dealt with on a case-by-case basis. Where there’s no clear benefit — including situations in which researchers can’t interpret a result — the group recommends against informing the participant.

The guidelines are also intended to encompass situations in which researcher are re-evaluating old data. And while it might be difficult to find the participant after some time has past, Wolf noted, it behooves researchers to take adequate steps to inform him or her of known clinically relevant findings.

Wolf and her colleagues also emphasized the need for increased guidance around incidental findings. “[These guidelines] should prompt federal authorities, universities, institutional review boards, and researchers to develop strategies for dealing with incidental findings and to discuss the plan with people signing up to participate in the research,” Wolf said in a statement.

In general, the team said their guidelines are consistent with an “emerging view that researchers bear some clinical obligations toward research participants.” “Research participants entrust aspects of their welfare to researchers, and within that scope of entrustment, may be entitled to identification, evaluation, and communication of clinically important [incidental findings],” they wrote.

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