GENOMICS AND PRIMARY CARE


so patients are bringing this desire for more genetic engagement to their pri- mary care physicians, and we are getting referrals from them.”


The pace and scope of genetic testing is moving incredibly fast, and primary care providers, because they deal with all areas of medicine, really have a tough time keeping up with it, See says. “I saw a recent study that found that 23 percent of primary care physicians surveyed indicated discomfort discussing genetics with their patients. The comfort level is not there.” Naresh Agarwal, M.D., regional direc-


tor of primary care for Peoria, Ill.-based OSF HealthCare, stresses that of all of the U.S. Preventive Task Force recommenda- tions, screening people to identify risk of hereditary cancer is where primary care can have a real and immediate impact. “The major challenge we have in pri- mary care is figuring out how we inte- grate this information in a way that we are not adding a burden for physicians in their daily workflow, and at the same time capturing the data needed so we can give an optimal patient experience,” says Agarwal. His organization’s strategy to date has been to identify clinicians with interest and provide training to them to improve their competency in genetics. OSF also is piloting a tool called Can-


cerIQ in primary care. It started using the platform a few years ago in specialty clinics, including oncology, breast imag- ing and women’s health. The goal now is to roll it out to primary care practices throughout the system.


Agarwal says CancerIQ’s technology allows clinicians to identify, evaluate and manage patients over time based on indi- vidual genetic risk factors within Epic’s workflow. The software’s algorithms analyze family history, run predictive risk models and offer clinical decision support based on oncology evidence- based guidelines.


CancerIQ isn’t the only tool being deployed to help primary care with genetics. A Silicon Valley company called GenomeSmart has developed a genetic risk assessment and test recommenda- tion platform called GenomeBrain, and a population-level dashboard called GenoWatch that offers a clinician a dash- board across a population to identify and prioritize those who may benefit from genetic testing.


A new clinic at UPMC Mylynda Massart, M.D., Ph.D., an assistant professor of family medicine at UPMC in Pittsburgh, has laid the groundwork to open a primary care clinic focused on precision medicine this fall. She wants it to serve both as a testing


ground for new services for patients and a place to educate primary care physi- cians and pharmacists.


“One of the biggest barriers to the implementation of genomics in health- care is the lack of knowledge on behalf of primary care doctors. Because we don’t have enough genetic specialists, providing these services is going to fall on primary care,” Massart says. In plan- ning the clinic, Massart is taking a two- pronged approach: “In the long-term, how do we get all of the primary care doctors up to speed and educated, and able to integrate this technology into the routine care of their patients? And how do we have a stopgap that bridges that need until that can happen? It is going to take some time, but the need and want from patients is here and now.” Massart says increasingly patients are showing up in primary care offices with concerns about results from a direct-to- consumer test, and often the physicians don’t know how to respond and may not be clear on FDA guidelines about what they can and can’t do with those results. “Ten years ago, when I gave talks to primary care doctors on this topic, the response was a complete shutdown. They didn’t want to see it or hear about it. Now I see that changing,” Massart


says. “When I teach residents, I tell them to be open. They have trust with patients, who are telling you that this is important to them. Whether the direct-to-consumer test was clinically important or not, it is a great way to jump-start a conversation with the patient to try to understand what motivated them to do the test — whether it was general knowledge-seek- ing or something particular they are wor- ried about. Use that as a stepping stone to apply the tools we have to answer that question.”


Geisinger’s population health DNA screening


One health system that has been a pio- neer in genomics is Pennsylvania-based Geisinger. Its MyCode effort began as a big-data research collaboration with Regeneron in 2014.


But the return of


results from the research has been made part of normal clinical care, says Christa Martin, Ph.D., associate chief scientific officer for Geisinger and director of its Autism & Developmental Medicine Institute.


“Our genetic counseling team pro- vides cohesive information to the patient and physician about what genetic change we found, what disease puts them at increased risk for developing, and


EHR Family Health History Tools O


ne of the keys to genetic screening efforts is to get good family health his- tory data in the EHR as structured data, although EHRs typically haven’t had good tools for taking family histories. In North Carolina, the Duke


Center for Applied Genomics and Precision Medicine created MeTree, a patient- facing web-based family and personal health history collection and clinical de- cision support program. It collects personal history on diet, exercise, smoking, and clinical data to calculate the Gail, BRCApro, and Framingham scores in ad- dition to personal and family health history on 20 cancers, 14 hereditary cancer and cardiovascular syndromes, and 21 other conditions. Traditionally patients had to fill out paper forms about their family’s health


history. “That is of limited value to physicians,” says Susanne Haga, Ph.D., a professor and researcher in the Duke Center for Applied Genomics and Preci- sion Medicine. “They need something so that the data can be processed with evidence-based guidelines. As soon as the patient completes the MeTree fam- ily history intake, the physician gets a list of recommendations based on that information right then and there and can share it with the patient during a visit.” A pilot study of MeTree in two community-based primary care clinics at Cone Health in Greensboro, N.C., showed that MeTree could be adopted into primary care practices without disruption to workflow, was useful to patients and pro- viders, and found that a high number of primary care patients (44 percent) were at high risk for one of the pilot clinical decision support conditions (breast can- cer, ovarian cancer, colon cancer, hereditary cancer syndromes or thrombosis.) Haga says the use of this type of family health history tool is starting to mi- grate from major academic medical centers into regional and smaller health- care systems. “There are multiple benefits,” she adds. “It reduces paperwork and improves input, and does the analysis for the physician.” Primary care should be more of a point person, Haga notes. “Once it is clear that a patient needs to seek care from a specialist or genetic counselor, primary care will fa- cilitate and direct them where they need to go. But we are not there yet.”


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