Measuring Perceived Utility of Genomic Sequencing: Development and Validation of the GENEtic Utility (GENE-U) Scale for Adult Screening

Authors

• Hadley Stevens Smith
• Caryn Kseniya Rubanovich
• Jill Oliver Robinson
• Ariel N Levchenko
• Sarah A Classen
• Janet Malek
• Adam H Buchanan
• Barbara Biesecker
• Kyle B Brothers
• Benjamin S Wilfond
• Christine Rini
• Cinnamon S Bloss
• Amy L McGuire
• Sara J Knight

Language

English

Publication Date

11-1-2024

Journal

Genetics in Medicine

DOI

10.1016/j.gim.2024.101240

PMID

39140259

PMCID

PMC11562923

PubMedCentral® Posted Date

11-1-2025

PubMedCentral® Full Text Version

Author MSS

Abstract

Purpose: As population-based screening programs to identify genetic conditions in adults using genomic sequencing (GS) are increasingly available, validated patient-centered outcome measures are needed to understand participants' experience. We aimed to develop and validate an instrument to assess the perceived utility of GS in the context of adult screening.

Methods: Informed by a 5-domain conceptual model, we used a 5-step approach to instrument development and validation: (1) item writing, (2) cognitive testing, (3) pilot testing and item reduction, (4) psychometric testing, and (5) evaluation of construct validity. Adults undergoing risk-based or population-based GS who had received GS results as part of ongoing research studies participated in structured cognitive interviews and 2 rounds of surveys. After item pool refinement, we conducted an exploratory factor analysis and calculated Pearson correlations with related instruments.

Results: We derived the 18-item Adult Screening version of the GENEtic Utility scale (total sum score α = .87). Mirroring the Pediatric Diagnostic version, the instrument has a 2-factor structure, including an Informational Utility subscale (14 items, α = .89) and an Emotional Utility subscale (4 items, α = .75). The Informational Utility subscale was strongly associated with empowerment and personal utility of GS. Correlations of the Emotional Utility subscale with psychosocial impact and anxiety and depression were weak to moderate.

Conclusion: Initial psychometric testing of the Adult Screening GENEtic Utility scale demonstrates its promise, and additional validation in translational genomics research is warranted.

Keywords

Humans, Adult, Female, Male, Genetic Testing, Psychometrics, Middle Aged, Surveys and Questionnaires, Genomics, Aged, Young Adult, Reproducibility of Results, utility, measurement, implementation science, assessment, genomic sequencing

Published Open-Access

yes

Recommended Citation

Smith, Hadley Stevens; Rubanovich, Caryn Kseniya; Robinson, Jill Oliver; et al., "Measuring Perceived Utility of Genomic Sequencing: Development and Validation of the GENEtic Utility (GENE-U) Scale for Adult Screening" (2024). Center for Medical Ethics and Health Policy Staff Publications. 335.
https://digitalcommons.library.tmc.edu/med_ethics/335