Capturing Perceived Utility from Qualitative Studies of Genomic Sequencing: Translating a Conceptual Model into a...

As genomic sequencing (GS) is integrated into clinical medicine, understanding how patients and families perceive its utility is critical. Conceptual models for perceived utility have been developed, however, direct application of such models to independently-collected qualitative data remains rare. To fill this gap, we translated a comprehensive model of perceived utility (Smith et al. 2022) into a codebook and revised it via application to a qualitative dataset capturing parent-reported utility of GS.

Using the domains and subdomains from Smith et al.'s conceptual model, we developed an initial codebook. We tested the derived codebook on data from 40 interviews with parents of children enrolled in SeqFirst, a research study offering GS for critically ill newborns in the neonatal intensive care unit and young children (<3 years) with unexplained developmental differences. Four coders independently applied the codebook. We addressed ambiguities through memoing and refined definitions via study team consensus.

The resulting codebook includes all five of Smith et al.'s (2022) domains: clinical, emotional, behavioral, cognitive, and social utility. We renamed and relocated several subdomains to add additional clarity in coding decisions, and developed definitions for all subdomain codes. The final codebook is included as a resource for future research.

This study translates a conceptual framework of perceived utility of GS into a practical codebook for qualitative research. Our intent is to facilitate conceptually-grounded, replicable coding across studies and settings, supporting both inductive and deductive analyses. Applying this codebook can enhance comparability of qualitative findings, inform refinement of conceptual models, and guide the further development of patient-centered measures of GS utility.