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.

The Feelings About genomiC Testing Results (FACToR) Questionnaire: Development and Preliminary Validation

“…The REVEAL Impact of Genetic Testing for Alzheimer's disease (IGT-AD), based on the MICRA, was designed for genetic susceptibility testing for Alzheimer's disease and comprises a distress subscale and a positive subscale (Chung et al, 2009). The Perceptions of Uncertainties in Genome Sequencing (PUGS) was designed to specifically capture the dynamic state of perceived uncertainty associated with genomic test result in various diseases (Biesecker et al, 2017). In conclusion, we developed a new instrument, the FACToR, which can help assess psychological responses of patients who undergo genomic testing, and we validated it in a high-risk colorectal cancer setting.…”

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease

“…It was developed and validated with adult colorectal cancer patients. The Perception of Uncertainties in Genome Sequencing (PUGS) scale assesses the uncertainties inherent in ES/GS outcomes and allows comparisons of pre‐ and post‐test perceptions. The PUGS was validated in an adult population and in a second sample that included parents of children who underwent sequencing.…”

Genetic counselors' perceptions of uncertainty in pretest counseling for genomic sequencing: A qualitative study

“…The existing body of literature highlights sources, consequences, and ethical aspects of genomic sequencing‐related uncertainty and focuses on patients' and general providers' experience of uncertainty in pretest consent and return of results (Biesecker et al, , ; Gray et al, ; McGovern & Harmon, ; Newson et al, ). The Clinical Sequencing Exploratory Research (CSER) Consortium has generated a considerable body of data on how patients' perceptions of uncertainty impact expectations of genomic information, ultimately leading to the development of a validated measure: the Perceptions of Uncertainties in Genome Sequencing (PUGS) scale (Biesecker et al, ). In general, those patients with greater ambiguity tolerance viewed uncertainty as a positive source of opportunity, whereas those with greater ambiguity aversion perceived uncertainty as a threat (Biesecker et al, ).…”