UVM Health Network Pilot Project Offers Patients Genomic DNA Testing

LCOM & Department News

UVM Health Network Pilot Project Offers Patients Genomic DNA Testing

November 18, 2019 by Annie Mackin

Debra Leonard, M.D., Ph.D., chair of the Department of Pathology and Laboratory Medicine at the UVM Larner College of Medicine (Photo: Andy Duback)

The University of Vermont Health Network has begun a pilot project to offer Genomic DNA Testing to patients as part of their clinical care. The pilot program is the beginning of an effort to increase the integration of genetic disease risks into routine medical care, which holds promise for providing Vermonters with valuable information to guide their health decisions.

“Our overall health and longevity are determined about 30 percent by genetics,” said Debra Leonard, M.D., Ph.D., chair and professor of pathology and laboratory medicine. “But until now, most of our clinical health care decisions have been made without understanding the differences in each individual’s DNA that could help guide those decisions.”

Patients who choose to get the Genomic DNA Test can learn about differences in their DNA that make certain diseases more likely, such as cancer and heart disease. Knowing these genetically-determined disease risks may help patients and health care providers adjust their care to keep people as healthy as possible. While genetic testing to identify the cause of a patient’s symptoms to reach a diagnosis is now common in health care, proactive genomic testing to identify health risks across a population is just beginning to be considered, and most projects are being done only in the research setting.

The UVM Health Network is partnering with Invitae and LunaPBC on the pilot project. Invitae will provide information for 147 genes that are well-established indicators of increased risk for certain diseases for which clinical treatment guidelines are established. The test also screens for carrier status for other diseases. Follow-up testing for family members will be provided when appropriate.

“Nearly 1 in 6 healthy individuals exhibits a genetic variant for which instituting or altering medical management is warranted,” said Robert Nussbaum, M.D., chief medical officer of Invitae. “Genetic screening like the Genomic DNA Test in a population health setting can help identify these risk factors so clinicians can better align disease management and prevention strategies for each patient.”

The UVM Health Network is offering the Genomic DNA Test as part of clinical care, but health and genomic data can also help researchers learn more about health and disease. Patients who get the test can consent to securely share their data with researchers through LunaDNA, partner LunaPBC’s sharing platform. LunaDNA provides patients with the opportunity to share their genomic and electronic health record information to advance health and disease management research. In the future, patients will also be able to share lifestyle, environment, and nutrition data. Shared data is de-identified and aggregated during studies to protect the privacy of each patient while being used to answer important medical research questions.

“Vermonters who choose to share their genomic data for research will play a leading role in the advancement of precision medicine,” said Dawn Barry, LunaPBC president and co-founder. “This effort puts patients first to create a virtuous cycle for research that doesn’t sacrifice patients’ control or privacy. We are proud to bring our values as a public benefit corporation and community-owned platform to this partnership.”

Leonard spoke about the project, the UVM Health Network’s partnership with LunaPBC and Invitae, and the role of genomics in population health on Monday at the Santa Fe Foundation’s Clinical Lab 2.0 Workshop in Chicago, a national conference at which pathologists and healthcare leaders from across the country share ways that pathology can be integral to improving population health.

“Vermont and other states are moving away from ‘fee-for-service’ health care and toward a system that emphasizes prevention, keeping people healthy and treating illness at its earliest stages,” Leonard said. “Integrating genetic risks into clinical care will help patients and providers in their decision-making.”

The pilot project began on Friday, November 1, when the first patient agreed to have the test. During the pilot stage of the project over the next year, the Genomic DNA Test will be offered to approximately 1,000 patients who: are at least 18 years old; receive their primary care from a participating UVM Health Network family medicine provider; are not currently pregnant or the partner of someone who is currently pregnant; and are part of the OneCare Vermont Accountable Care Organization (ACO), a care coordination and quality improvement organization.

Patients do not have to pay for the test or for discussions with the UVM Health Network’s Genomic Medicine Resource Center’s genetic counselors before and after testing. The test uses a small amount of blood, and focuses on the parts of a patient’s DNA that most affect health and health care. Results will go into each patient’s medical record, protected like all medical information, and available to the patient and all of their health care providers.

“Much work has gone into getting ready to start this project and it has taken an entire team,” Leonard said. “Providers from family medicine, cardiology, the Familial Cancer Program, medical genetics and pathology, patient and family advisors, ethics and regulatory compliance leaders, Planning, finance and OneCare Vermont have all worked together to get us across the start line for this initiative.”

Patients should be aware that the UVM Health Network will never call them on the phone to ask them to get this test. Testing is arranged through a patient’s primary health care provider and only if the patient agrees to have the test.

Past Department Highlights

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