Preferences for results delivery from exome sequencing/genome sequencing.

PURPOSE: The aim of this study was to explore the implications of sequencing information and stated preferences for return of results among research participants. METHODS: Six focus groups were held with 39 ClinSeq participants. The groups included participants who had received results, those who had not, those affected with cardiovascular disease, and healthy adults. Audio recordings of the sessions were transcribed and coded and analyzed for themes. RESULTS: All participants expressed interest in receiving results that are medically actionable, nonactionable, carrier, and less so variants that cannot be interpreted. Most participants preferred to receive results in person, although several endorsed use of Internet-based resources that they could return to. Participants identified benefits for health management along with satisfying curiosity, making scientific contributions, and partnering in research. Value was seen in gaining control over health risks. Concerns were distress and/or fear that may result. Some participants were opposed to or ambivalent about learning certain types of results, particularly those having to do with diseases that were incurable or that might have implications for the health of their children. CONCLUSION: There was relative enthusiasm about the value of learning sequencing information, yet it was tempered by concern about negative feeling responses and aversion to learning about incurable conditions.

How do research participants perceive "uncertainty" in genome sequencing?

PURPOSE: The scope of uncertainty in genome sequence information has no rival in health-care delivery. We present data from adults participating in a National Institutes of Health study using this technology, in which perceptions of uncertainty are hypothesized to be key in predicting decisions to learn and act on genome health information. METHODS: We conducted six professionally moderated focus groups with 39 randomly selected ClinSeq participants varying on whether they had coronary heart disease and had received prior sequence results. We elicited perceptions of the uncertainties associated with genome sequencing using written prompts. RESULTS: Participants perceived uncertainty as a quality of genome information. The majority of participants characterized uncertainty of sequencing information as "changing, fluid, developing, or ground breaking." These responses led to anticipation of more optimistic future outcomes. Fewer participants described uncertainty as "questionable, less accurate, limited, or poorly understood." These perceptions seemed to undermine participants' faith in genome information, leading to feelings of disillusionment. CONCLUSION: Our findings suggest that perceptions of uncertainty are related to epistemological beliefs that inform expectations for the information. Interventions that promote realistic expectations of genome sequencing may mitigate negative responses to uncertainty.