IntroductionThe scope of uncertainty in genomic sequence information has no rival in health care delivery. We present data from adults participating in an NIH study using this technology where perceptions of uncertainty are hypothesized to be key in predicting decisions to learn and act on genomic health information.MethodsWe conducted six professionally moderated focus groups with 39 randomly selected ClinSeq® participants, varying whether they had coronary heart disease and had received prior sequence results. We elicited perceptions of the uncertainties associated with genomic sequencing using writing prompts.ResultsParticipants perceived uncertainty as a quality of the 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 the information, leading to feelings of disillusionment.DiscussionOur findings suggest that perceptions of uncertainty are related to epistemological beliefs that inform expectations of the information. Interventions to promote realistic expectations of genomic sequencing may mitigate adverse responses to uncertainty.

PurposeThis study investigated how genome sequencing results affect health behaviors, affect, and communication.MethodsWe report on 29 participants who received a sequence result in the ClinSeq® study, a cohort of well-educated, post-reproductive volunteers. A mixed methods design was used to explore respondents’ use, communication, and perceived utility of results.ResultsMost participants (72%) shared their result with at least one health care provider, and 31% reported changes to their health care. Participants scored high on the Positive Experiences subscale and low on the Distress subscale of a modified version of the Multidimensional Impact of Cancer Risk Assessment (MICRA). The majority (93%) shared their result with at least one family member. Participant’s described deriving personal utility from their results.ConclusionsThis paper is the first to describe research participants’ reactions to actionable sequencing results. Our findings suggest clinical and personal benefit from receiving sequencing results, both of which may contribute to improved health for the recipients. Given the participants’ largely positive or neutral affective responses and disclosure of their results to physicians and relatives, health care providers should redirect concern from the potential for distress and attend to motivating patients to follow their medical recommendations.