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Survey Reveals Genetics Professionals' Views on Incidental Findings Differ from Current Guidelines


NEW YORK (GenomeWeb) – A survey of genetics professionals conducted by researchers from the University of Washington has found that, on the whole, respondents' views on when and how to return incidental findings from whole genome and exome sequencing differed substantially from professional recommendations.

The study, published this month in the American Journal of Human Genetics used online surveys to interrogate almost 10,000 genetics professionals, 847 of whom responded and 760 of whom completed the survey. Through this portal, researchers questioned respondents on their attitudes in general about returning incidental findings from clinical sequencing data, and more specifically about the recommendations released last year by the American College of Medical Genetics and Genomics.

In 2013 ACMG issued the recommendations at its annual March meeting, laying out a minimum list of pathogenic variants on 57 genes corresponding to 24 disorders that the organization felt should always be analyzed and returned to the ordering physician, regardless of patient preference.

Even prior to the ACMG's guidelines, which were received with some controversy, questions about whether and how to return incidental results have been a mainstay in debates on the potential risks and benefits of clinical whole exome and genome sequencing.

Joon-Ho Yu, the new survey study's first author, told CSN this week that his group hoped to add empirical evidence to this discussion, and address a hopefully broader group of genetics professionals than the few strong voices that have previously defined the debate over these questions.

Overall, he and his colleagues found that their survey respondents seemed to be open to returning a wider variety of results than defined by the ACMG, while being largely dedicated to the idea that the choice in the matter should be given to patients and families.

In their survey, Yu and his coauthors invited almost 10,000 genetics professionals to complete an online survey between August 19 and September 17, 2013. The group recruited respondents by collecting email addresses from public databases of three genetics societies: ACMG, the American Society of Human Genetics, and the National Society of Genetic Counselors.

According to the authors, the survey was developed in light of a review of medical literature, previously published surveys, and interviews with genetics professionals.

About 8 percent of the genetics professionals who were emailed responded, and of those, 760 completed the full survey online. According to the authors, this group represented a range of professions including clinical geneticists, genetic counselors, and human geneticists.

Overall, Yu and his colleagues reported, an overwhelming majority of respondents, 85 percent, agreed that incidental results should be offered to adult patients. About three quarters agreed that such results should also be offered to healthy adults or to the parents of a child with a medical condition.

The group was split almost 50/50 on the question of whether the results returned to these three groups should be only those considered actionable.

Breaking the categories down further, the researchers found that almost all (88 percent) of genetic professionals agreed that results about childhood-onset conditions should be offered to parents of children with a medical condition, and about 60 percent also thought results linked to adult-onset diseases or carrier status should similarly be offered.

The study authors wrote that this ambiguity on whether only actionable or other types of informative results should be returned reflects the fact that defining what is actionable has proven to be challenging for the field.

On the subject of the ACMG's recommendations, most respondents agreed with the college's list of minimum genes from which results should be returned to patients regardless of the indication. However, more than half disagreed that it should be healthcare providers who decide which of these results to return.

Asked how they would respond to a patient or family's decision to decline receiving results on the ACMG minimum list, 58 percent of genetics professionals said they would respect this request across the board, While 47 percent said they would discuss each possible incidental result with patients and return only the ones they decide they would like to receive.

"There are so many layers of questions and issues, so where we reach consensus on some points we aren’t there on others," Yu said. "For example, I think there seems to be consensus that there should be an option for people to not receive results. But of course when you take that apart, its not clear how that should be operationalized. Should it be a yes or no question? Categories? What depth do we go to in that question of choice?"

In the survey about 80 percent of the group agreed that a family or patient's preferences should guide which results they receive, though less than half of the respondents thought that giving patients and families this choice would improve care.

In addition to responding to agree-or-disagree statements in the survey, 349 of the respondents also provided information about exome and whole genome sequencing results that they "typically" return to patients in their own practice.

Yu and his colleagues reported that 68 percent of these respondents said they offer incidental results associated with Mendelian conditions. About half said they offer carrier status results or results associated with the potential for an adverse drug response. Only 25 percent said they offer incidental results associated with complex conditions.

The survey also dealt with questions about how to return results to sequenced patients. About 80 percent agreed that a face-to-face meeting with a genetic counselor was the preferred approach, although phone calls and use of an interactive website with access to a counselor by phone or in person also ranked high at 63 percent and 53 percent, respectively.

Respondents identified lack of time and expertise as the most important practical challenge in returning incidental findings.

According to Yu and his coauthors, this, coupled with the openness of respondents to alternative mechanisms of returning results, like a web-based system, suggests an opportunity and a mandate to consider such innovative approaches moving forward.

Yu's colleagues Holly Tabor and Michael Bamshad, senior authors of the study, are also involved in an ongoing project sponsored under the National Human Genome Research Institute's return of results program, which is studying a web-based tool for informed consent and return of incidental sequencing results.

According to Yu, the team's survey provides only one piece of evidence to understand what appears to be a varied and complex landscape of opinions and practices. One area the study did not address in depth was research, rather than clinical sequencing, where many of the same questions may also be relevant.

The study also leaves open other complex questions, for example how the nature of consent may or should evolve as children who have been sequenced in a clinical or research setting attain their own majority.

Yu said the group is interested now in looking more deeply at the comment portions of the survey, which they have not yet analyzed in detail. "We want to do a more serial analysis, he said, to understand the reasons for these different positions, for instance why some people said they didn't want to return any incidental findings."

He said his group has also conducted another similar study, which they are working to publish, on the attitudes of genetic professionals in regards to race genetics and ancestry testing.