‘Someday it will be the norm’: physician perspectives on the utility of genome sequencing for patient care in the MedSeqProject

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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.

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