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Primary Care Professionals May Be Able to Step in to Interpret Genetic Testing Results

NEW YORK – Specialists might be the best choice to interpret genetic testing results, but primary care providers may be positioned to do so when specialists are not available, a new study has found.

While direct-to-consumer genetic testing is at the moment largely limited to people who can afford it out of pocket, there are ongoing efforts such as the Precision Medicine Initiative, Clinical Sequencing Exploratory Research Consortium, and the Electronic Medical Records and Genomics network to more widely incorporate genetic testing into medical records and clinical care. As a result of more widespread implementation, the genetic counselors or clinical geneticists who typically interpret the results of these tests may be spread thin.

To help address this issue, University of Nebraska, Omaha's Scott McGrath and his colleagues surveyed more than 250 medical professionals to gauge their ability to and comfort or experience with interpreting genetic testing results. As they reported today in BMC Health Services Research, they found that both specialists and other providers both had relatively high rates of correctly interpreting results. However, they uncovered some variation among non-specialists related to their experience with interpreting genetic testing results and age.

"The genesis of this project was looking at precision medicine's goals in bringing in genetic data for patients," McGrath said in a statement. "The concern was, once this data starts coming in, the limited number of genetic specialists we have will quickly become overwhelmed. Were medical practitioners able to interpret the data if presented with it?"

They recruited both specialists — genetic counselors and clinical geneticists — and primary care providers to take their survey. The survey not only inquired about what the medical professionals thought of genetic testing, their experience with it, and whether they felt equipped to handle interpreting results, but also had them consider three genetic testing scenarios. In all, 264 surveys were completed.

The first scenario presented was based off a 23andMe risk report for a 35-year-old obese man and his genetic susceptibility to diabetes, while the third scenario drew from a Pathway Genetics drug response result for statin-induced myopathy for a man taking simavastatin to control his cholesterol level. The second scenario was more complex and was based on a report from Geisinger's genomic testing tool COMPASS that reported symptoms and a genetic sequencing test result that spotlighted DCTN1 for a 48-year-old woman with three children. Variants in DCTN1 have been linked to distal hereditary motor neuronopathy type VIIB, which matched some of her symptoms.

Overall, both specialists and primary care healthcare providers largely interpreted the results in those three scenarios correctly. Specialists averaged 83.4 percent correct, while other providers averaged 74.4 percent correct. This slight difference between the groups suggested to the researchers that primary care providers might be able to interpret genetic testing results when specialists are not available.

In general, the researchers found that specialists were more confident in their ability to interpret testing results, as compared to the other providers.

Respondents from both groups were more likely to stumble on the second scenario involving a rare disease, though primary care providers performed less well in that scenario than specialists did.

Healthcare providers with prior experience with genetic testing were twice as likely to correctly interpret those three scenarios. Similarly, younger medical providers who were more likely to be taught about genetics in medical school and residency were better able to interpret those three testing scenarios. This suggested to the researchers that exposure to genetic testing might lead to providers seeking more information regarding testing.

These findings could help design educational approaches to better prepare primary care providers to handle genetic testing results.

"We want the public to have correct knowledge in interpreting their data," senior author Kiran Bastola from Nebraska said in a statement. "Our ultimate goal is to make sure that this powerful knowledge patients are getting out of their genome data is being used to the benefit of healthcare."