UPMC clinic works to bring precision medicine to primary care

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While direct-to-consumer DNA tests are growing in popularity, patients are finding that their own primary care physicians lack training and background in genetics testing technology.

It’s a juxtaposition that Mylynda Massart, MD, an assistant professor of family medicine at the University of Pittsburgh, who teaches genomics and precision medicine, is well aware of and is looking to address.

“One out of four Americans have engaged in some form of direct-to-consumer genetic testing, and yet the primary care workforce is not yet prepared to integrate these services into every day practice,” she says. “There’s also a lot of potential information that somebody can get in a direct-to-consumer result they might not be fully prepared emotionally to receive.”

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“All physicians who are trained currently in medical school are inadequately prepared to handle the amount of genetics that are going to impact all areas of medicine,” adds Massart, who is a family medicine physician at the University of Pittsburgh Medical Center.

Massart is also medical director of UPMC's new Primary Care Precision Medicine Clinic, which is meant to serve as a testing ground for patient services as well as educational tools for PCPs.

“We actually created this clinic with that transition in mind so that we could bridge the patient’s need and the doctors’ education,” she observes. “This clinic is meant to provide those gap services to patients who are looking for precision medicine to be integrated into their care and also who need assistance with direct-to-consumer testing results.”

Companies like 23andMe are providing consumers with test results for genetic mutations that may indicate an elevated risk for individuals when it comes to their developing Alzheimer’s disease, cancer or Parkinson’s disease. However, Massart warns that most PCPs are “not knowledgeable enough” to assess those risks.

At the same time, Massart points out that Food and Drug Administration regulations preclude PCPs from using results from direct-to-consumer genetic testing for clinical decision making—so, she says the tests would have to be repeated and confirmed to be incorporated into a patent’s care plan.

In addition, PCPs must know where to store genomic data in their electronic health record systems and how to integrate those data into patient care, which UPMC’s Primary Care Precision Medicine Clinic is incorporating into practice.

One area of genetic testing that Massart sees particular value for primary care is pharmacogenomics, in which tests could indicate how genetics affect the metabolism of everyday medications. Currently, more than 200 medications have some genetic considerations as to how effective those drugs will be and possible adverse reactions, according to Massart.

“Pharmacogenomics, in terms of consideration of preemptive testing, is very important in primary care,” comments Massart. “If we can do a single panel after someone turns 18, then any time a clinical scenario comes up where prescribing is indicated—and a medication that has a pharmacogenomic variant associated with it is being discussed—that data would be readily available in the electronic health record and could greatly inform prescribing.”

As genetic testing is integrated into primary care across the country, she contends that the role of genetic counselors—which are in short supply nationally—will become increasingly important.

“It’s a service that is so critically important but we have to figure out how to scale it—we just don’t have enough genetic counselors,” Massart concludes. “It all boils down to empowering patients and giving them control of their healthcare and outcomes. The ultimate goal is precision preventative medicine.”

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