Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing

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

doi:10.1016/j.gim.2024.101146

Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing

Genet Med. 2024 Apr 24:101146. doi: 10.1016/j.gim.2024.101146. Online ahead of print.

Affiliations

¹ PRecisiOn Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Medical School, Boston, MA; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX. Electronic address: hadley_smith@hphci.harvard.edu.
² San Diego State University/University of California San Diego Joint Doctoral Program in Clinical Psychology, San Diego, CA.
³ Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX.
⁴ RTI International, Washington DC.
⁵ Norton Children's Research Institute affiliated with the University of Louisville School of Medicine, Louisville, KY.
⁶ Treuman Katz Center for Pediatric Bioethics and Palliative Care, Seattle Children's Research Institute and Hospital, Seattle, WA; Division of Bioethics and Palliative Care, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA.
⁷ Department of Medical Social Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL; Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL.
⁸ Division of Epidemiology, Department of Internal Medicine, University of Utah, Salt Lake City, UT.
⁹ Herbert Wertheim School of Public Health, University of California San Diego, San Diego, CA.

PMID: 38676451
DOI: 10.1016/j.gim.2024.101146

Abstract

Introduction: Measuring effects of genomic sequencing (GS) on patients and families is critical for translational research. We aimed to develop and validate an instrument to assess parents' perceived utility of pediatric diagnostic GS.

Methods: Informed by a five-domain conceptual model, the study comprised five steps: (1) item writing, (2) cognitive testing, (3) pilot testing and item reduction, (4) psychometric testing, and (5) evaluation of construct validity. Parents of pediatric patients who had received results of clinically indicated GS participated in structured cognitive interviews and two rounds of surveys. After eliminating items based on theory and quantitative performance, we conducted an exploratory factor analysis and calculated Pearson correlations with related instruments.

Results: We derived the 21-item Pediatric Diagnostic version of the GENEtic Utility (GENE-U) scale, which has a two-factor structure that includes an Informational Utility subscale (16 items, α = 0.91) and an Emotional Utility subscale (5 items, α = 0.71). Scores can be summed to calculate a Total scale score (α = 0.87). The Informational Utility subscale was strongly associated with empowerment and personal utility of GS, and the Emotional Utility subscale was moderately associated with psychosocial impact and depression and anxiety.

Discussion: The Pediatric Diagnostic GENE-U scale demonstrated good psychometric performance in this initial evaluation and could be a useful tool for translational genomics researchers, warranting additional validation.

Keywords: assessment; genomic sequencing; implementation science; measurement; utility.

Grants and funding

U01 HG007301/HG/NHGRI NIH HHS/United States