Primary Care Providers Wary, Optimistic About Genetic Testing in Survey

Kerry Dooley Young

May 08, 2018

A survey of primary care providers found that many doubt their own readiness to aid patients in understanding the results of genetic testing, but remain optimistic that this diagnostic tool will benefit patients, according to research published May 7 in Health Affairs.

Among 488 primary care providers who responded to a survey, 74% agreed or strongly agreed with the view that genetic testing for common disease risk is clinically useful, report Diane Hauser, MPA, from the Institute for Family Health and the Icahn School of Medicine at Mount Sinai in New York City, and colleagues.

Moreover, 70% agreed or strongly agreed with the view that genetic medicine will improve clinical outcomes within 5 years.

Yet only 14% were as confident about interpreting genetic test results, and just 25% agreed or strongly agreed when asked if they were ready to take care of patients who had genetic testing for common diseases.

"Even among primary care providers who stated that they had had formal genomics education and who had recently been trained (in an era characterized by an explosion in genomic discoveries and technology), perceived preparedness was low," Hauser and colleagues write. "Interest in, enthusiasm for, and experience with genetic testing were not associated with confidence in working with patients who had genetic testing for common chronic conditions."

This mismatch of expectations for genetic testing and physicians' perception of their ability to help patients understand the knowledge gained from them points to a need for more training and new systems for processing test results, the authors write. Many physicians surveyed, for example, said they wanted to use electronic health records to order genetic tests.

"Primary care providers are key stakeholders in the adoption of genetic medicine," Hauser and colleagues continue. "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 [electronic health records] to help clinicians act on the increasing volumes of genetic information they will encounter."

The survey stemmed from a clinical trial called Genetic Testing to Understand Renal Disease Disparities, which was intended to check adults of African ancestry for high-risk APOL1 renal disease variants. The presence of two APOL1 risk variants is linked to increased risk for hypertension-related kidney failure.

Before enrolling patients in the trial, the researchers surveyed primary care providers to assess their attitudes about genetic testing. They asked primary care providers at four academic and six community-based general internal medicine practices and five federally qualified health centers in New York City to participate.

Of 547 primary care providers invited to participate, 488, or 89%, completed the survey. The group of respondents skewed to newer physicians, with residents accounting for 313 (64%) of the participants. Another 21 (4%) were nurse practitioners, and 147 (31%) were attending physicians or fellows. The authors noted that one of the limitations of their study was that it had been conducted in a large city with a primary care provider population that consisted predominantly of physicians in training or recent medical graduates.

In the survey, 53% of respondents indicated concerns that genetic testing will lead to insurance discrimination. Hauser and colleagues note that clinicians and patients may not be sufficiently aware of the legal protections in place, notably the Genetic Information Nondiscrimination Act of 2008.

"Primary care providers' belief that genetic testing would motivate patients and prevent disease was countered by concerns about patients' negative reactions to their results and insurance discrimination (despite little evidence that genetic discrimination occurs), as well as mistrust of companies that offer testing," the authors write.

This study was supported by the National Human Genome Research Institute and the National Center for Advancing Translational Sciences. The authors have disclosed no relevant financial relationships.

Health Aff. 2018;37:5. Abstract

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