'Someday it will be the norm': physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project

Abstract

Aim: To describe practicing physicians' perceived clinical utility of genome sequencing.

Materials & methods: We conducted a mixed-methods analysis of data from 18 primary care physicians and cardiologists in a study of the clinical integration of whole-genome sequencing. Physicians underwent brief genomics continuing medical education before completing surveys and semi-structured interviews.

Results: Physicians described sequencing as currently lacking clinical utility because of its uncertain interpretation and limited impact on clinical decision-making, but they expressed the idea that its clinical integration was inevitable. Potential clinical uses for sequencing included complementing other clinical information, risk stratification, motivating patient behavior change and pharmacogenetics.

Conclusion: Physicians given genomics continuing medical education use the language of both evidence-based and personalized medicine in describing the utility of genome-wide testing in patient care.

Keywords: genomics; high-throughput nucleotide sequencing; pharmacogenetics; physician’s practice patterns; qualitative research.

Figures

Figure 1. Physician perception of present and future clinical utility of family history and whole genome sequencing, rated on a scale from 1 to 10 (‘Not at all useful’ to ‘Extremely useful’)

Values shown are mean (SD) utility ratings. p-values correspond to paired t-tests.