April 04, 2012 - In recent years, the proliferation of biobanks that collect and store genetic and health information that can be shared and studied by researchers, combined with the increasing affordability of whole genome sequencing, has added urgency to the debate over whether individual genetic results should be returned to research participants. Nearly all participants in a series of 10 nationwide focus groups stated that they would want at least some individual genetic research results returned when considering participating in a large-cohort genetic study, according to a new paper in Genetics in Medicine. Authors Juli Bollinger, David Kaufman, and Rachel Dvoskin of the Genetics and Public Policy Center and Joan Scott of the National Coalition of Health Professional Education in Genetics found that focus group participants understood the nuances and limitations of individual research results and placed priority on learning about results whose medical significance is already well understood by scientists.
There has been mounting evidence in the literature that potential research participants are interested in receiving their individual results and may expect the return of at least some results as a condition of participation in genetic research. There is concern, however, that returning results could harm research participants, who may attribute more meaning to these results than scientific evidence would warrant.
The authors conducted 10 focus groups with adults in Denver, Philadelphia, and Washington, DC, to measure the public's preferences with respect to individual genetic research results, their understanding of the wide variation in clinical utility of such data, and their desire for the results given these limitations. Focus group members were presented with specific examples of results that might be generated during a large-cohort genetic study; and the participants discussed whether their interest in a result would depend on particular attributes, including availability of a treatment for the condition, the magnitude of the risk identified, whether the result was confirmed in other studies, whether the result revealed a variant of unknown significance, and whether the result was for a non-medical trait (such as premature graying of hair).
The authors found that the majority of participants in all 10 focus groups expressed a strong desire for at least some individual results when considering participating in a large, prospective study. While most participants said they would prefer to receive as many results as possible, many would accept the return of a limited number. Participants were interested in results regardless of whether the magnitude of the risk conferred was large or small or whether a treatment was available. How well a potential finding is understood by the scientific community had the greatest influence on participants' interest in the result.
Focus group participants also gave many health-related and personal reasons for why they would want results that fall outside of the traditional definition of clinical utility, including the possibility that the information might encourage people to learn more about their health, change health-related behaviors, share the information with family members, and participate in other research studies, and that it might help people to plan for the future.
The authors conclude that focus groups participants were able to understand and discuss the nuances and limitations of individual research results; they advise that researchers and policy makers who are deciding the value of returning a given result consider using a broader definition of clinical utility as well as possible personal utility of the information.
Link to Genetics in Medicine article
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