Patient and Physician Perceptions of Genetic Testing in Primary Care

The convergence of biomedical informatics and translational genomics is changing the way we practice. Primary care will play a pivotal role in this transformation. We therefore sought to assess general knowledge about genetic testing among outpatient internal medicine providers, and the patients that they serve across a five state region in the Midwest.

One thousand take-home paper surveys were created and distributed to internal medicine patients at 13 Midwestern clinics. Sixty-two electronic surveys were also created and distributed to internal medicine providers at these same clinics. Questions assessed knowledge, interest, and comfort with genetic testing as well as the role of genetic counselors. Differences in response based on physician characteristics were compared using a Chi-squared analysis.

In general, patients cared for in internal medicine clinics expressed an understanding of both content (75 percent) and rationale (81 percent) for genetic testing. Patients are open to hearing about genetic risks that could affect their health (88 percent) even if their visit was scheduled for a different reason. In these same clinics, providers expressed a strong understanding of the purpose of genetic testing (88 percent). However, providers were not confident in responding to questions about the impact of genetic testing on disease susceptibility (25 percent). Providers were more confident answering questions about genetic variability in drug response (46 percent). In general, outpatient internal medicine providers feel comfortable referring patients to genetic counselors to assess disease risk (88 percent) and they believe genetic testing is relevant to their practice (75 percent).

In our Midwestern sample, we found that both patients and providers express interest in learning more about genetic testing in the context of primary care. Patient and physician responses indicate a role for genetic counselors in helping our patients understand and interpret genetic test results.