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Per Med. 2015;12(1):23-32.

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

Author information

1
Section of General Internal Medicine, VA Boston Healthcare System, Boston, MA 02130, USA ; Division of General Medicine & Primary Care, Department of Medicine, Brigham & Women's Hospital, Boston, MA 02115, USA ; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.
2
Department of Medicine, Harvard Medical School, Boston, MA 02115, USA ; Division of Genetics, Brigham & Women's Hospital, Boston, MA 02115, USA.
3
School of Public Health & Health Sciences, University of Massachusetts, Amherst, MA 01003, USA.
4
Department of Medicine, Harvard Medical School, Boston, MA 02115, USA ; General Medicine Division, Massachusetts General Hospital, Boston, MA 02114, USA.
5
Center for Medical Ethics & Health Policy, Baylor College of Medicine, Houston, TX 77030, USA.
6
Division of General Medicine & Primary Care, Department of Medicine, Brigham & Women's Hospital, Boston, MA 02115, USA ; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA ; General Medicine Division, Massachusetts General Hospital, Boston, MA 02114, USA.
7
Geisinger Health System, Danville, PA 17822 4910, USA.

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

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