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; Amy L McGuire

doi:10.1007/s40271-021-00558-4

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

Patient. 2022 May;15(3):317-328. doi: 10.1007/s40271-021-00558-4. Epub 2021 Oct 18.

Authors

Hadley Stevens Smith¹, Stephanie R Morain^{2

3}, Jill Oliver Robinson², Isabel Canfield², Janet Malek², Caryn Kseniya Rubanovich⁴, Cinnamon S Bloss⁵, Sara L Ackerman⁶, Barbara Biesecker⁷, Kyle B Brothers⁸, Crispin N Goytia⁹, Carol R Horowitz^{9

10}, Sara J Knight¹¹, Barbara Koenig¹², Stephanie A Kraft^{13

14}, Simon Outram¹², Christine Rini^{15

16}, Kelly J Shipman¹⁷, Margaret Waltz¹⁸, Benjamin Wilfond^{13

14}, Amy L McGuire²

Affiliations

¹ Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA. hadley.smith@bcm.edu.
² Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
³ Berman Institute of Bioethics, Johns Hopkins University, Baltimore, MD, USA.
⁴ San Diego State University/University of California San Diego Joint Doctoral Program in Clinical Psychology, San Diego, CA, USA.
⁵ Herbert Wertheim School of Public Health, University of California San Diego, San Diego, CA, USA.
⁶ Department of Social and Behavioral Sciences, University of California, San Francisco, CA, USA.
⁷ RTI International, Washington, DC, USA.
⁸ Department of Pediatrics, University of Louisville School of Medicine, Louisville, KY, USA.
⁹ Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
¹⁰ Icahn School of Medicine at Mount Sinai, Institute for Health Equity Research, New York, NY, USA.
¹¹ Division of Epidemiology, Department of Internal Medicine, University of Utah, Salt Lake City, UT, USA.
¹² Program in Bioethics, University of California, San Francisco, CA, USA.
¹³ Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute and Hospital, Seattle, WA, USA.
¹⁴ Division of Bioethics and Palliative Care, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.
¹⁵ Department of Medical Social Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
¹⁶ Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL, USA.
¹⁷ Palliative Care and Resilience Lab, Seattle Children's, Seattle, WA, USA.
¹⁸ Department of Social Medicine, UNC-Chapel Hill School of Medicine, Chapel Hill, NC, USA.

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.

Publication types

Review
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural

MeSH terms

Adult
Child
Emotions
Genomics
Humans
Models, Theoretical*
Parents* / psychology
Patient-Centered Care
Qualitative Research

Abstract

Publication types

MeSH terms

Grants and funding