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.

Keywords: PUGS scale; genome sequencing; perceptions of uncertainty; practical uncertainties.

Conflict of interest statement

Conflict of Interest Statements:

Barbara Biesecker, Kyle Brothers, Paul Han, Bill Klein, Katie Lewis, Kendall Umstead and Samuel Woolford have no conflicts to declare. Leslie Biesecker receives royalties from Genentech Corp., is an unpaid advisor to Illumina Corp. and receives honoraria from Wiley-Blackwell Inc.

Published 2016. This article is a U.S. Government work and is in the public domain in the USA.

Figures

Figure 1

A flowchart of the participants from the two samples included in the analyses. ClinSeq and HudsonAlpha. While recruitment for both studies continued, the totals reflect all enrollees with baseline data at the time of analysis.

Figure 2

The PUGS scale * Items removed from the PUGS scale based on results from the CFA

Figure 3

The measurement model for the confirmatory factor analysis.

Figure 4

The CFA model with standardized factor loadings for the items and correlations between the factors.