ELSIcon2022 Paper: Patients’ and Parents’ Perceived Utility of Genomic Sequencing: Instrument Development and Validation

ELSIcon2022 • Paper • May 31, 2022

Caryn Rubanovich, Jill Robinson, Sarah Classen, Janet Malek, Kyle B. Brothers, Benjamin Wilfond, Barbara Koenig, Carol Horowitz, Christine Rini, Barbara Biesecker, Sara Knight, Cinnamon Bloss, Amy McGuire, Hadley Stevens Smith

Robust assessment of patients’ and parents’ perceptions of the utility of genomic sequencing is crucial to evaluations of genomic medicine implementation. We aim to develop and psychometrically validate a new patient-centered outcome measure of perceived utility of genomic sequencing. Drawing upon a conceptual model previously developed and published by this study team, we wrote items targeted at capturing utility in five domains: clinical, emotional, behavioral, cognitive, and social. We developed two versions of the item pool that are similar yet clinical context-appropriate, in service to the goal of developing two instruments that will be suited for administration to: (1) parents of pediatric patients undergoing genomic sequencing for diagnostic purposes; and (2) adults undergoing genomic sequencing as part of a risk-based or population-based screening program. We cognitively tested the items with participants from 6 projects across the US. in the Clinical-Sequencing Evidence-Generating Research (CSER) consortium. Based on interviewee feedback, we refined item wording and added additional salient items. In this paper, we review the process of instrument development and present empirical findings from pilot testing of the item pools. Pilot data will be used to further refine items and inform selection of items for inclusion in each instrument. We will then assess the psychometric qualities of the instruments and subsequently validate their performance in various clinical scenarios. These new instruments will serve as key tools to measure patients’ and parents’ perceptions of the utility of genomic sequencing in future evaluations of its clinical implementation.