Individual expectations for return of secondary results from exome sequencing. H. K. Tabor1,2, J. Crouch1, A. A. Lemke1, K. M. Dent3, A. G. Shankar2, S. M. Jamal2, J. H. Yu2, M. J. Bamshad2,4 1) Treuman Katz Ctr Pediatric Bioethics, Seattle Children's Hospital, Seattle, WA; 2) Department of Pediatrics, University of Washington, Seattle, WA; 3) Department of Pediatrics, University of Utah, Salt Lake City, UT; 4) Department of Genome Sciences, University of Washington, Seattle, WA.
A major obstacle to taking full advantage of exome and genome sequencing (ES/WGS) data in a clinical setting is how to effectively manage incidental or secondary results. A key step in overcoming this obstacle is understanding the expectations for return of results of people who undergo ES/WGS and how they evaluate possible risks and benefits. To this end, we conducted semi-structured interviews with 42 individuals who had undergone ES in studies of Mendelian and complex diseases and who were offered secondary results. The vast majority (95%) of individuals wanted unrestricted access to all available secondary results. They sought to prepare for the future and thought that all results including the bad, unexpected, uncertain and non-actionable, have a fundamental potential for benefit. While most individuals recognized the psychosocial risks of receiving results, including anxiety, worry and fear, they stated that they would work through it and that the benefits of genetic health information far outweighed any potential harms. The majority saw themselves as resilient and able to adapt to volumes of complex, uncertain, and unpleasant information, drawing on their prior experiences receiving unexpected and uncertain medical information. They described the potential benefits of results to include medically actionable information, knowledge about their/their childs disease or prognosis, ability to plan for the future and improve quality of life, and reassurance about negative results. Individuals also wanted the ability to learn more about the range of available secondary results in order to make more nuanced choices and prioritize their preferences for return. Potential challenges they acknowledged included risks to privacy and insurance, temporary anxiety, sharing results with family members, and possible need for further health care interventions. These results suggest that individuals want unfettered access to secondary results from ES and that the perceived benefits of these results are highly contextualized. Furthermore, all or none approaches to return of secondary ES/WGS results based on traditional models of actionability appear to be at odds with the demands of healthcare consumers. Accordingly, our results underscore the need to develop and test innovative approaches to ES/WGS results management that allow for greater autonomy and choice over preferences for return of secondary results.
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