title: PUGS: A novel scale to assess perceptions of uncertainties in genome sequencing.
abstract: Expectations of results from genome sequencing by end users are influenced by perceptions of uncertainty. This study aimed to assess uncertainties about sequencing by developing, evaluating, and implementing a novel scale. The Perceptions of Uncertainties in Genome Sequencing (PUGS) scale comprised ten items to assess uncertainties within three domains: clinical, affective, and evaluative. Participants (n=535) from the ClinSeq® NIH sequencing study completed a baseline survey that included the PUGS; responses (mean = 3.4/5, SD=0.58) suggested modest perceptions of certainty. A confirmatory factor analysis identified factor loadings that led to elimination of two items. A revised eight-item PUGS scale was used to test correlations with perceived ambiguity (r = -0.303, p < 0.001), attitudinal ambivalence (r = -0.111, p = 0.011), and ambiguity aversion (r = -0.093, p = 0.033). Results support nomological validity. A correlation with the MICRA uncertainty subscale was found among 175 cohort participants who had received results (r = -0.335, p < 0.001). Convergent and discriminant validity were also satisfied in a second sample of 208 parents from the HudsonAlpha CSER Project who completed the PUGS (mean = 3.4/5, SD = 0.72), and configural invariance was supported across the two datasets. As such, the PUGS is a promising scale for evaluating perceived uncertainties in genome sequencing, which can inform interventions to help patients form realistic expectations of these uncertainties.
authors.affiliation: Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: B B
authors.initials: BB
authors.lastname: Biesecker
authors.affiliation: Mathematical Sciences, Bentley University, Waltham, MA, USA.
authors.forename: S W
authors.initials: SW
authors.lastname: Woolford
authors.affiliation: Division of Cancer Control and Population Sciences, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: W M P
authors.initials: WMP
authors.lastname: Klein
authors.affiliation: Department of Pediatrics, University of Louisville School of Medicine, Louisville, KY, USA.
authors.forename: K B
authors.initials: KB
authors.lastname: Brothers
authors.affiliation: Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: K L
authors.initials: KL
authors.lastname: Umstead
authors.affiliation: Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: K L
authors.initials: KL
authors.lastname: Lewis
authors.affiliation: Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: L G
authors.initials: LG
authors.lastname: Biesecker
authors.affiliation: Maine Medical Center Research Institute, Center for Outcomes Research and Evaluation, New Haven, CT, USA.
authors.forename: P K J
authors.initials: PKJ
authors.lastname: Han
mesh_terms: D000368:Aged; D002874:Chromosome Mapping; D005260:Female; D015894:Genome, Human / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010465:Perception; D011795:Surveys and Questionnaires; D035501:Uncertainty; D000073336:Whole Genome Sequencing / Q000639:trends*
keywords: PUGS scale; genome sequencing; perceptions of uncertainty; practical uncertainties