How do research participants perceive "uncertainty" in genome sequencing?
Document Type
Article
Publication Date
12-1-2014
Institution/Department
MMCRI; CORE
Journal Title
Genetics in medicine : official journal of the American College of Medical Genetics
MeSH Headings
Adult, Chromosome Mapping, Cohort Studies, Coronary Artery Disease, Focus Groups, Genome, Genome, Human, Humans, Longitudinal Studies, National Institutes of Health (U.S.), Patient Participation, Research Design, Sequence Analysis, DNA, Uncertainty, United States
Abstract
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.
ISSN
1530-0366
First Page
977
Last Page
980
Recommended Citation
Biesecker, Barbara B; Klein, William; Lewis, Katie L; Fisher, Tyler C; Wright, Martha Frances; Biesecker, Leslie G; and Han, Paul K, "How do research participants perceive "uncertainty" in genome sequencing?" (2014). MaineHealth Maine Medical Center. 208.
https://knowledgeconnection.mainehealth.org/mmc/208