Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development

Hadley Stevens Smith (), Stephanie R. Morain, Jill Oliver Robinson, Isabel Canfield, Janet Malek, Caryn Kseniya Rubanovich, Cinnamon S. Bloss, Sara L. Ackerman, Barbara Biesecker, Kyle B. Brothers, Crispin N. Goytia, Carol R. Horowitz, Sara J. Knight, Barbara Koenig, Stephanie A. Kraft, Simon Outram, Christine Rini, Kelly J. Shipman, Margaret Waltz, Benjamin Wilfond and Amy L. McGuire
Additional contact information
Hadley Stevens Smith: Baylor College of Medicine
Stephanie R. Morain: Baylor College of Medicine
Jill Oliver Robinson: Baylor College of Medicine
Isabel Canfield: Baylor College of Medicine
Janet Malek: Baylor College of Medicine
Caryn Kseniya Rubanovich: San Diego State University/University of California San Diego Joint Doctoral Program in Clinical Psychology
Cinnamon S. Bloss: University of California San Diego
Sara L. Ackerman: University of California
Barbara Biesecker: RTI International
Kyle B. Brothers: University of Louisville School of Medicine
Crispin N. Goytia: Icahn School of Medicine at Mount Sinai
Carol R. Horowitz: Icahn School of Medicine at Mount Sinai
Sara J. Knight: University of Utah
Barbara Koenig: University of California
Stephanie A. Kraft: Seattle Children’s Research Institute and Hospital
Simon Outram: University of California
Christine Rini: Northwestern University Feinberg School of Medicine
Kelly J. Shipman: Seattle Children’s
Margaret Waltz: UNC-Chapel Hill School of Medicine
Benjamin Wilfond: Seattle Children’s Research Institute and Hospital
Amy L. McGuire: Baylor College of Medicine

The Patient: Patient-Centered Outcomes Research, 2022, vol. 15, issue 3, No 4, 317-328

Abstract: Abstract Background and Objectives Successful clinical integration of genomic sequencing (GS) requires evidence of its utility. While GS potentially has benefits (utilities) or harms (disutilities) across multiple domains of life for both patients and their families, there is as yet no empirically informed conceptual model of these effects. Our objective was to develop an empirically informed conceptual model of perceived utility of GS that captures utilities and disutilities for patients and their families across diverse backgrounds. Methods We took a patient-centered approach, in which we began with a review of existing literature followed by collection of primary interview data. We conducted semi-structured interviews to explore types of utility in a clinically and sociopolitically diverse sample of 60 adults from seven Clinical Sequencing Evidence-Generating Research (CSER) consortium projects. Interviewees had either personally received, or were parents of a child who had received, GS results. Qualitative data were analyzed using thematic analysis. Findings from interviews were integrated with existing literature on clinical and personal utility to form the basis of an initial conceptual model that was refined based on expert review and feedback. Results Five key utility types that have been previously identified in qualitative literature held up as primary domains of utility and disutility in our diverse sample. Interview data were used to specify and organize subdomains of an initial conceptual model. After expert refinement, the five primary domains included in the final model are clinical, emotional, behavioral, cognitive, and social, and several subdomains are specified within each. Conclusion We present an empirically informed conceptual model of perceived utility of GS. This model can be used to guide development of instruments for patient-centered outcome measurement that capture the range of relevant utilities and disutilities and inform clinical implementation of GS.

Date: 2022
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DOI: 10.1007/s40271-021-00558-4

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