How do research participants perceive “uncertainty” in genomic sequencing?

INTRODUCTION: The 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. METHODS: We 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. RESULTS: Participants 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. DISCUSSION: Our 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.