Capturing Perceived Utility from Qualitative Studies of Genomic Sequencing: Translating a Conceptual Model into a
Betty Cohn1, Tesla Theoryn1, Olivia Sommerland2
1Institute for Public Health Genetics, University of Washington, Seattle, Washington, USA.
AJOB Empirical Bioethics
|July 22, 2026
Summary
This study developed a practical codebook for analyzing parent perceptions of genomic sequencing utility. The codebook enhances qualitative research by enabling consistent and comparable findings on the clinical, emotional, and social benefits of genomic sequencing.
Area of Science:
- Genomic Medicine
- Qualitative Research Methods
- Patient-Reported Outcomes
Background:
- Genomic sequencing (GS) is increasingly used in clinical settings, making patient and family perceptions of its utility crucial.
- Existing conceptual models for perceived utility lack direct application to independently collected qualitative data.
- A gap exists in translating theoretical models of GS utility into practical tools for qualitative analysis.
Purpose of the Study:
- To translate a comprehensive conceptual model of genomic sequencing utility into a usable codebook for qualitative research.
- To revise and validate this codebook through application to a real-world qualitative dataset.
- To facilitate conceptually-grounded and replicable coding of patient-reported utility of GS.
Main Methods:
- Developed an initial codebook based on the domains and subdomains of Smith et al.'s (2022) conceptual model of perceived utility.
- Tested the codebook on qualitative data from 40 interviews with parents of children undergoing GS for critical illness or developmental differences.
- Refined the codebook through independent coding by four researchers, memoing, and study team consensus.
Main Results:
- The final codebook incorporates all five domains of perceived utility: clinical, emotional, behavioral, cognitive, and social.
- Subdomain definitions were clarified, and some were renamed or relocated for improved coding accuracy.
- The resulting codebook provides a structured framework for analyzing qualitative data on GS utility.
Conclusions:
- This study successfully translated a conceptual framework of GS utility into a practical, validated codebook for qualitative research.
- The codebook supports both inductive and deductive analyses, enhancing comparability of findings across studies.
- This resource can inform the refinement of conceptual models and guide the development of patient-centered measures for GS utility.
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