title: How do research participants perceive "uncertainty" in genome sequencing?
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Barbara B
authors.initials: BB
authors.lastname: Biesecker
authors.affiliation: Division of Cancer Control and Population Sciences, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: William
authors.initials: W
authors.lastname: Klein
authors.affiliation: Genetics Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Katie L
authors.initials: KL
authors.lastname: Lewis
authors.affiliation: Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Tyler C
authors.initials: TC
authors.lastname: Fisher
authors.affiliation: Genetics Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Martha Frances
authors.initials: MF
authors.lastname: Wright
authors.affiliation: Genetics Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Leslie G
authors.initials: LG
authors.lastname: Biesecker
authors.affiliation: Maine Medical Center Research Institute, Center for Outcomes Research and Evaluation, Scarborough, Maine, USA.
authors.forename: Paul K
authors.initials: PK
authors.lastname: Han
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D015331:Cohort Studies; D003324:Coronary Artery Disease / Q000175:diagnosis*; D017144:Focus Groups; D016678:Genome; D015894:Genome, Human; D006801:Humans; D008137:Longitudinal Studies; D009316:National Institutes of Health (U.S.); D010358:Patient Participation; D012107:Research Design; D017422:Sequence Analysis, DNA / Q000379:methods*; D035501:Uncertainty; D014481:United States