Expanding Primary Care’s Role in Genetic Screening

By David Raths

To kick-start progress on precision medicine, health systems increase education efforts, embed genetic counselors in primary care clinics


he direct-to-consumer genetic testing boom caught most health systems by surprise because their

primary care providers felt largely unprepared to discuss the implications of genetic testing with their patients. Now many innovative medical organi- zations are working to better support their primary care clinics and make genetic testing a routine part of clinical work fl ow.

In 2014, South Dakota-based Sanford Health made a commitment to broaden its approach to genetics from the rare disease space into primary care with the goal of screening as many patients as possible. That involved a two- pronged effort to create an educational foundation for primary care providers and embed genetic counselors in pri- mary care practices.

“That helped to raise the awareness of using genetics on a more regular basis,” says Cassie Hajek, M.D., a med- ical geneticist with Sanford Health. “People started referring more to the genetic counselors and talking more about it with patients they are seeing on a day-to-day basis. We also devel- oped our own pharmacogenetic testing in house.”

Cassie Hajek, M.D.

ing. “We have graduated two classes so far, with eight students in each, and we have hired 50 percent of those,” Hajek says.

Sanford is far from alone in seeking to overcome barriers to making pri- mary care settings a bigger part of their


Sanford now has 25 genetic counsel- ors embedded in primary care across its health system, which spans North Dakota, South Dakota, Minnesota, Iowa and Nebraska. It also partnered with Augustana University to develop a mas- ter’s degree program in genetic counsel-

genetic testing and consulting efforts. Yet health systems have found doing genetic screening for diseases such as breast cancer in primary care settings diffi cult due to rapidly changing guidelines, a shortage of genetic counselors, reim- bursement issues, and a lack of time and knowledge.

Although some large health systems

are starting to embed genetic counselors in primary care, that approach may not be practical for smaller or rural prac- tices. If you are a primary care provider in rural Tennessee, you may see a few patients per year that have a genet- ics question beyond the scope of your practice, and it may not make sense for your practice structure to have an in- house genetic counselor, says Tricia See, cardiac and neurogenetics team lead for a company called InformedDNA, which provides tele-genetic services such as genetic counseling.

Although the majority of referrals to InformedDNA still come from special- ists, See says, an increasing number involve primary care providers. “Some of that is patient-initiated because there has really been a shift in genetics to more direct-to-consumer testing, done outside of the context of physician-ordered tests,

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