LCOM & Department News

UVM Health Network Pilot Project Offers Patients Genomic DNA Testing

November 18, 2019 by Annie Mackin

The UVM Health Network is partnering with Invitae and LunaPBC on 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.

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.

Department Highlights

Dr. Debra Leonard, M.D., Ph. D., our department chairand the Genomic Medicine Team announce the start of the Genomic Population Health Initiative. A pilot project offering Genomic DNA Testing is now underway within the University of Vermont Health Network. Read more here... (2019)

Dr. William Pendlebury, M.D., professor emeritus of Pathology & Laboratory Medicine, has been selected to receive the 2019 Vermont Medical Society’s (VMS) Founders’ Award. The award recognizes Pendlebury’s leadership role and advocacy in “the fight for the diagnosis and treatment of dementia in Vermont for the past 35 years.” He will receive the award November 2 at the VMS 206th Annual Meeting in Stowe, Vt.(2019)

Yvone Janssen-Heininger, Ph.D., Jos van der Velden, Ph.D. (both Pathology & Laboratory Medicine faculty) and senior author, Charles Irvin, Ph.D. (Medicine), published "The Effect of Flavored E-cigarettes on Murine Allergic Airways Disease" in Nature Scientific Reports. The study has been cited in stories by several news outlets: U.S. News & World Report/HealthDay; American Journal of Managed Care; Medical News Bulletin; and Medical Daily. (2019)

Dr. Mark Fung, M.D, Ph.D., professor and vice chair for Population Health, was recently named to the board of directors for the Project Santa Fe Foundation, which “focuses on demonstrating the power of longitudinal clinical laboratory data to proactively augment population health in a value-based healthcare environment.” (2019)

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Dr. Bronwyn Bryant, M.D. was named a 2019 Frymoyer Scholar for her project, “Validating Entrustable Professional Activity-Based Assessment to Determine On-Call Competency in Pathology Residents”. (2019)

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Dr. Rebecca Wilcox, M.DDr. Rebecca Wilcox, M.D. was selected, by the Larner College of Medicine Class of 2019, to be the commencement keynote speaker. Read more... [Photo credit: Andy Duback 2019] (2019)

Please join Dr. Yvonne Janssen-Heininger in congratulating Allison Manuel and Evan Elko

Dr. Allison Manuel is a post-doctoral fellow in our group.  Her abstract to be presented at the American Thoracic Society conference was chosen to receive an Abstract Scholarship . The scholarship includes a full In-Training Registration to the 2019 ATS International Conference in Dallas, Texas.  

Evan Elko is a PhD student. He just received notice that his F31 NIH application entitled: “Role of peroxiredoxin-4 in Idiopathic Pulmonary Fibrosis”  will be funded.

Congratulations to Evan and Allison.

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Department alumni, Dr. Bobbi Pritt, M.D. featured in Vermont Medicine Magazine. To read her story click on the photo below.

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Dr's Leonard and HuberA Remarkable Gift from Dr. Sally Huber, Ph.D.

At the end of last week's Research Day, Dr. Leonard gave a surprise announcement: a very generous bequethment of $5 million by research faculty emerita, Dr. Sally Huber! The funds will go toward two endowed professorships for junior investigators in our department. The endowments will be named for her parents, Elmer R. Huber and Blodwen S. Huber, and will support junior research faculty for five years.(9/2018)

This amazing support will allow junior faculty time and funds to gain independence while pursuing the milestone achievement of being awarded their first R01 grant.

Heintz Awarded 2018 Distinguised Graduate Alumni Award

Dr. Nick Heintz, Ph.D. received the 2018 UVM Medical Alumni Association’s Distinguished Graduate Alumni Award​, which is presented to Larner College of Medicine (LCOM) alumni who have demonstrated outstanding achievement in basic, clinical or applied research; education; industry; public service/humanitarianism; and/or outstanding commitment to the LCOM community.

He accepted his award at the college's Celebrating Research Excellence event at the end of October. (September 2018)

Kida Received Certificate of Commendation

Dr. Kida receives award from the State of Vermont...read more here. (August 2018)

Leonard and Committee Publish Through National Academies Press

Dr. Debra Leonard, along with a committee under the National Academies of Sciences, Engineering, and Medicine, ​published "Returning Individual Research Results to Participants: Guidance for a New Research Paradigm" through The National Academies Press, Washington, D.C., 2018 (Committee Member). (August 2018)

Excellence in Education

The Larner College of Medicine’s second year medical students nominate and elect faculty who they want to recognize for their outstanding teaching and support over their first years of the Foundations education. (February 2018)

Pathology nominees (winners in bold):

AMWA Gender Equity Award  - Pamela Gibson; Sharon Mount; Rebecca Wilcox

Dean Warhsaw Integration Award - Rebecca Wilcox

Silver Stethoscope Award - Scott Andreson; Maureen Harmon; John Lunde

Above and Beyond Award - Ronald Bryant; Rebecca Wilcox

Foundations Course Director Award -Rebecca Wilcox

Outstanding Foundations Course Award

  • Cardiovascular, Respiratory & Renal Systems: (Ron Bryant; Kelly Butnor; and Pam Gibson are the primary pathologists in each section of the course, respectively)
  • Nutrition, Metabolism & the Gastrointestinal System: Course Director is Rebecca Wilcox

Foundations Teaching Award - Ronald Bryant; Pamela Gibson; Rebecca Wilcox; Christina Wojewoda

Dr. Yvonne Janssen-Heininger Receives Patent

Yvonne Janssen-Heinger was awarded a patent on the ​concept that strategies to inhibit GSTP has utility for the treatment of patients with pulmonary fibrosis. Congratulations, Yvonne! (January 2018)

Drs. Bronwyn Bryant and Phillip Munson inducted into the Teaching Academy

Last week Bronwyn and Phillip were inducted into University of Vermont's Teaching Academy. The Teaching Academy sustains and supports an interdisciplinary community of educators who value the scholarship of teaching and learning while facilitating educator development; improve the efficiency and quality of medical education through collaboration and scholarship; and promote an academic environment that increases the value and impact of educators locally, regionally, and nationally. (January 2018)