70% of primary care providers hope genetic testing will improve outcomes within 5 years

The potential of genetic testing for chronic disease is substantial—and these possible positives are understood by many primary care providers (PCPs). Still, many feel unprepared to deal with patients at high risk for such conditions, while others questioned their ability to interpret genetic testing results.

Researchers surveyed 488 PCPs in New York between 2014 and 2016 about attitudes and beliefs about such testing, with results published online May 7 in Health Affairs.

“A majority of the providers we surveyed believed in the potential clinical benefits of genetic testing for common chronic diseases but felt that they lacked the knowledge and skill to use genetics in the care of their patients,” wrote Diane Hauser, MPA, a senior associate the Icahn School of Medicine at Mount Sinai in New York, and colleagues. “Efforts to expand genetic testing should help identify common, actionable variants that increase chronic disease risk and should enhance primary care provider training and the use of EHRs to help clinicians act on the increasing volumes of genetic information they will encounter.”

    The research team distributed a 45-item survey focusing on perceptions of genomic medicine, links between ancestry and genetic links to common diseases and the clinical utility of such information. Significant feedback from the cohort—64 percent female with 77 percent in practice less than five years—included:

    • Most—74 percent—believed genetic testing is clinically useful, with 70 percent expecting it to improve outcomes in the next five years.
    • 53 percent of respondents thought patients would be interested in testing for common diseases, while only 34 percent believed such testing would push patients to work toward a healthier lifestyle.
    • 78 percent of PCPs had formal genetics education, but only 25 percent would be ready to care for patients who had genetic testing for common diseased and only 14 percent would be confident interpreting genetic testing results.
    • In the past year, 36 percent had ordered genetic testing for a patient, 38 referred a patient for genetic counseling and 30 percent returned test results.

    Though many PCPs were encouraged about what genetic testing could do for patients, preparedness remained low. Considering how many respondents had received formal education on the subject, the authors argued, improving readiness will take more than additional training.

    The authors outlined various policy implications related to the development of genetic testing.

    EHRs: “Most of the providers we surveyed wanted to use the [electronic health record] to order genetic tests and obtain genetics-related information for themselves and their patients,” Hauser et al. wrote.

    Patient protections: “It will also be important to address providers’ concerns, such as about insurance discrimination resulting from genetic testing. While there are legal protections in place … clinicians and patients are not sufficiently aware of these provisions or their benefits and limitations,” they wrote.

    Underserved populations: “It will be important to determine how to use genetic discoveries for the benefit of all patients and to address the significant underrepresentation of minority populations both in genetics research and as partners in the development and implementation of translational research, policy and practice,” wrote Hauser and colleagues.

    Researchers identified geography as a limitation, with PCPs and patients all in the New York area. They also noted the survey was before such testing was implemented, so physician attitudes could change after patient testing.