How do research participants perceive "uncertainty" in genomic sequencing? B. Biesecker1, L. Biesecker2, P. Han3 1) Soc Behavioral Res Branch, NHGRI/NIH, Bethesda, MD; 2) Genetic Disease Rsearch Branch, NHGRI/NIH, Bethesda, MD; 3) Maine Medical Center, 81 Research Dr Scarborough, ME 04074.
How research participants and patients interpret uncertainty in health care is not well understood. When investigators and health care providers describe health information as uncertain, they often assume that the recipient shares their intended meaning. No data exists to support or refute this assumption. Further, little is known about the consequences of communicating uncertainty to patients facing a health care decision. Politi and colleagues have identified conceptual differences in how uncertainty is defined and measured and call for exploratory research. We present data from adults participating in an NIH genome sequencing cohort study where uncertainty is hypothesized to be a key variable in predicting decisions to learn health-related information from ones genome sequence. We conducted six focus groups with 39 ClinSeq participants that elicited perceptions of the uncertainty associated with genomic sequencing. Participants perceived uncertainty as pertaining to the type and quality of information generated, describing it as ambiguous, of questionable accuracy/validity, limited, probabilistic, fluid, and infinite. These perceptions lead to concerns that the uncertainty may undermine their faith in the information, or lead to confusion, uneasiness, hopelessness or further questions. As such, participants requested that investigators define the degree of uncertainty associated with any information and estimate the probabilities for disease. Some only want to learn valid information. One prefers a high level of certainty when making health related decisions. The majority also stated that uncertainty was expected of genomic information, that it was reality, unsurprising, fair, accepted and honest. They further described how uncertainty means that more will be learned in the future, knowledge is unfolding and that they are curious to see how far it will go. These varied descriptions of uncertainty need to be replicated in larger studies, but suggest that in consenting participants to genomic sequencing, different dimensions of uncertainty should be raised. And serve to remind investigators that uncertainty is not uniformly interpreted as negative but at times seen as an opportunity.
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