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PUGS: A novel scale to assess perceptions of uncertainties in genome sequencing
Author(s) -
Biesecker B.B.,
Woolford S.W.,
Klein W.M.P.,
Brothers K.B.,
Umstead K.L.,
Lewis K.L.,
Biesecker L.G.,
Han P.K.J.
Publication year - 2017
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12949
Subject(s) - nomological network , psychology , scale (ratio) , discriminant validity , confirmatory factor analysis , clinical psychology , ambiguity , structural equation modeling , psychometrics , statistics , computer science , mathematics , internal consistency , quantum mechanics , programming language , physics
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.