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ASHG Panel Discusses Return of Research Results to Participants

BOSTON (GenomeWeb News) – A panel at the American Society of Human Genetics annual meeting today discussed whether researchers have an obligation to return results, particularly so-called incidental findings, from genetic studies to research participants.

There is, the participants noted, an increasingly fuzzy distinction between research and clinical work, especially as it concerns next-generation sequencing studies.

Earlier this year, the American College of Medical Genetics and Genomics issued guidelines for laboratories, recommending that when conducting exome or genome sequencing in a clinical setting that they also examine certain other genes and return those results to ordering physicians. The organization's list of genes to inspect for mutations include ones strongly linked to genetic diseases like breast and ovarian cancer, Lynch syndrome, hypertrophic and dilated cardiomyopathy, and more.

But this, Ellen Wright Clayton, a professor of both pediatrics and law at Vanderbilt University, said at ASHG today, is "a sea change in ethical obligations" as it moved from a model of disclosing findings that may be of immediate benefit to the patient to a model based on a duty to warn that it is of benefit to not just the patient, but also the family.

Of course, the panel noted, the research process is manifestly different than clinical care, and the obligations of clinicians and researchers differ.

"There is a need for general consensus to guide return of results in research," said James Evans, a professor of genetics and medicine at the University of North Carolina-Chapel Hill.

Researchers, Wright Clayton added, do not have the same duties that clinicians have, with the exception of clinician investigators.

Research, Evans said, is performed for communal benefit, and participants have little chance of personally benefitting. In contrast, clinical care clearly aims to help the individual patient. Additionally, research participants can decline to be involved in a study while patients have much less latitude in their involvement in care, Evans added.

Blurring the distinction between research and care by returning results, especially secondary findings, may harm the research enterprise, not only because it may confuse participants about the goals of research, but also because there is incomplete understanding of how some variants contribute to disease risk. Evans noted that there are potential harms associated with both under- and over-reporting results, especially as some people may not care to know.

"Overly broad, obligatory return of results [policies] places a heavy burden on the research enterprise," he said.

If there is a duty to hunt for incidental findings, Wright Clayton added, that effort would divert resources from the research process as the hunting for the secondary findings is time consuming and difficult.

But lists like those developed by ACMG may make it easier for the research realm to determine which variants meet a threshold of importance for reporting, noted the National Human Genome Research Institute's Benjamin Berkman, eliminating what he dubbed the "stumble strategy" of researchers finding actionable results by happenstance.

The ACMG list, Evans added, could be adapted for the research enterprise, though he noted that agreeing on a list may be difficult.

Instead, he suggested defining a "low floor" and a "high ceiling" for returning results to research participants. For example, he said that the minimum could be leaving open the possibility of re-contacting participants in case something is found, while the maximum could be returning all data as long as there was consent from the participant and institutional review board approval.

In the current environment, Berkman said there is no obligation to return such results to research participants, though as the situation changes, so will researchers' duty.

He based his determination on three factors: benefit, need, and burden. Today, he said, there is a low benefit of receiving results for participants, as most genetic information is of uneven quality and uncertain utility. The need, though, is high since researchers may uniquely offer such results, as testing is not widespread. At the same time, the burden on the researcher is high since searching for the variants is time consuming and there is limited expertise in the area, Berkman said.

However, he added, there is a caveat. As the field is moving in the direction of having gene lists, there is limited obligation today to look for variants on such lists.

In the future, Berkman also noted, those obligations will change as the benefit, need, and burden of reporting results shift.

Having to return such results is likely inevitable, Duke University's Misha Angrist said. Instead, he suggested that researchers focus on how to overcome resistance to disclosing such findings.

Wright Clayton cautioned, though, that if researchers hunt for and report more findings, they would probably become legally responsible for doing so. "What we are seeing here is that researchers … are actually trying to blur the line with clinical care," she said.