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.

 

Past Department Highlights

Congratulations to Jessica Crothers, M.D., Assistant Professor Pathology and Laboratory Medicine, on achieving the Notice of Special Interest Team Science award from NIAID for: "Effects of the gut microbiota on oral vaccine response in adults and children." (10/2023)

Nicole BouffardCongratulations to Nicole Bouffard on being awarded the "Scientific Research Staff Award" for 2023. This was presented to Nicole at the September 21, 2023, LCOM Research Excellence Award Ceremony. This is a great honor for Nicole and the Department of Pathology and recognizes her contributions and importance to the department and MIC. (10/2023)

Congratulations to Brian Cunniff, Ph.D., Assistant Professor Pathology and Laboratory Medicine, on being awarded a $1.6 million R01 grant by the National Institute of General Medical Sciences to study the role of mitochondrial trafficking in regulating cell migration, a key feature of metastatic tumors. (9/2023)

Congratulations to Yvonne Janssen-Heininger, Ph.D., Professor Pathology and Laboratory Medicine, on becoming a University of Vermont Cancer Center Program Co-Leader, Cancer Cell. (9/2023)

Congratulations to the following pathology members on receiving research support funds in April 2023. Recipients were: John Kennedy, M.D., $6520 for morphologic and immunohistochemical re-evaluation of renal cell carcinomas exhibiting papillary architecture, with emphasis on tumors demonstrating "type 2" morphology. Yvonne Janssen-Heininger, Ph.D., $15,000 for a joint initiative between RBP, UVM Cancer Center, and faculty in the Department of Chemistry. Megan Tarte $745 for Stem Cells, Cell Therapies, and Bioengineering in Lung Biology and Disease ConferenceAlbert van der Vliet, Ph.D., $14,400 for Redox processes in macrophage activation in IPF. (9/2023)

Congratulations to the following faculty members on their promotions: Vikas Anathy, Ph.D., to Professor with tenure, Bronwyn Bryant, M.D., to Associate Professor, John DeWitt, M.D., Ph.D., to Associate Professor, Sarah Nowak Ph.D., to Associate Professor, and Christi Wojewoda, M.D., to Professor. (6/2023)

Bei Zhang, M.D., M.S., Ph.D., MLS(ASCP), associate professor of pathology and laboratory medicine, did an educational scholarship session titled "Activate Students Learning Outside Classroom." at the 8th International meeting of the Association of Biochemistry Educators. Dr. Zhang also conducted two additional workshops with other ABE members titled "Linking Clinical Presentations to Their Biochemistry: A novel ABE Clinical-Biochemistry Curricular Treat Mapping Educational Tool.", and "Getting to Clerkship and Beyond: Crafting Biochemistry Learning Objectives that Connect and Integrate Basic Science Concepts with Clinical Application." (5/2023)

Congratulations to Dr. Maureen Harmon, M.D., associate professor of pathology and laboratory medicine, and Dr. Amer Abu Alfa, M.D., assistant professor of pathology and laboratory medicine for being recognized by medical students for their professionalism. Dr. Harmon was recognized for social responsibility and Dr. Abu Alfa was recognized for compassion. (5/2023)

Congratulations to Mary Cushman, Ph.D., M.Sc., professor of medicine and pathology and laboratory medicine, on being named a University Distinguished Professor of Medicine, Hematology/Oncology Division, and Pathology and Laboratory Medicine. (5/2023)

View the story Mammograms of a study by Sarah Nowak, Ph.D., assistant professor of pathology and laboratory medicine, and researchers at the UVM Cancer Center showing data that fewer women being screened for breast cancer. (4/2023)

vandervliet-habibovic420x280A new study by Albert van der Vliet, Ph.D., professor of pathology and laboratory medicine, and a team of University of Vermont (UVM) researchers is honing in on why people with asthma often have worse symptoms if they are obese. This new research demonstrates that the gene DUOX1 likely contributes to the connection between obesity and asthma.  The research was published ahead of print in the American Journal of Physiology-Lung Cellular and Molecular Physiology and was highlighted as an APSselect article for March 2023. Albert van der Vliet, Ph.D., was the senior author on the paper, along with department of pathology and laboratory medicine coauthors Aida Habibovic, lab research technician;Litiele Cruz, Ph.D., visiting scholar; Vikas Anathy, Ph.D., associate professor; University Distinguished Professor Yvonne Janssen-Heininger, Ph.D.; and additional team members and authors from UVM. Read the full LCOM News story LCOM News (4/2023)

Congratulations to Bronwyn Bryant, M.D., Assistant Professor of Pathology and Laboratory Medicine, for having your proposal, Consequential Validity of Entrustable Professional Activities in Pathology Residency Training selected to receive a Frymoyer Scholars Program project of $48,000 to be funded July 1, 2023 through June 30, 2025. (4/2023)

Congratulations to Martin Chang, M.D., Ph.D., on accepting the new role as Vice Chair for Faculty Affairs. (4/2023)

Congratulations to Joanna Conant, M.D., on becoming the new Pathology Student Fellowship Director starting July 1, 2023. (4/2023)

Congratulations to The Cunniff Lab, on receiving funding to support research focused on malignant mesothelioma. The funding was from The Butler Family Foundation Fund for Cancer Research at the University of Vermont Cancer Center. The Butler Fund was established by the Butler family in memory of two loved ones lost to mesothelioma. (03/2023)

Congratulations to the following recipients that received pathology research support funding. Nathaniel Shannon in Brian Cunniff's, Ph.D., lab was awarded $1800 towards the cost of travel to the 2022 Annual Meeting of the Society for Redox Biology and Medicine (SfRBM). Litiele Cruz, Ph.D., and faculty mentor Albert van der Vliet, PhD., were awarded $2622 for her project "Characterization of Laminin Oxidative Modifications by Peroxidasin in Pulmonary Fibrosis"Nels Olson, PhD., MPH., $14,582 for the purchase of an Agilent BioTek 405 TS Touch Microplate Washer, Model 405 TSRS. Ashley Volaric M.D.Joanna Conant M.D., and David Seward, M.D, Ph.D., were awarded $13,680 for their project, "The Effect of Epstein Barr Virus Latency on Cellular DNA Methylation Profile of Diffuse Large B Cell Lymphoma". (3/2023)

A number of faculty and students from the pathology and laboratory medicine department presented research at the American Heart Associations Epidemiology, Prevention, Lifestyle, and Cardiometabolic Health (EPI/Lifestyle) Scientific Sessions 2023 in Boston February 28 - March 3. Students presenting were Maggie King, a master in science pathology degree student who was mentored by faculty scientist J. Peter Durda, Ph.D. pathology and laboratory medicine.  Maggie presented on "Complete Blood Count Analysis in the Risk Underlying Rural Areas Longitudinal (RURAL) Cohort Study with a Point of Care Instrument." Her study is supported by NHLBI. And second-year medical student and 2022 Cardiovascular Research Institute Summer Research Fellow Megan Zhou, mentored by pathology and laboratory medicine associate professor Nels Olson, Ph.D. Megan presented on  "Coagulation Factor IX and Incident Diabetes Risk: The Reasons for Geographic and Race Differences in Stroke (REGARDS) Study." Also, pathology and laboratory faculty members that were coauthors of presentations given, assistant professor Margaret Doyle, Ph.D., and University Distinguished Professor of pathology and laboratory medicine, Russell Tracy, Ph.D. (3/2023)

Congratulations to Dr. Bei Zhang, M.D., Ph.D., MLS(ASCP), associate professor of pathology and laboratory medicine, for being selected for a Distinguished Scholar Award by the Association of Biochemistry Educators for her submission entitled "Activate Students' Learning Outside Classroom". Dr. Zhang will be presenting this submission at the 2023 Association of Biochemistry Education Conference. (3/2023)

Congratulations to our 2023 Gender Equity Award Nominees. Gender Equity Champion Award nominee, Debra Leonard, M.D., Ph.D., Chair and Professor Pathology and Laboratory Medicine. Our departmental nominees for The Polaris Award for Outstanding Mentorship- an award for informal or formal mentorship for women or gender diverse college community members, Rebecca Wilcox, M.D., Pam Gibson, M.D., Yvonne Janssen-Heininger, Ph.D., and Christi Wojewoda, M.D. (2/2023)  

Congratulations to Dr. Scott Anderson, M.D., on being selected to receive the Association of Pathology Chairs 2023 Margaret Grimes Distinguished Achievement Award in Graduate Medical Education. This award was made in recognition of Dr. Anderson's outstanding contributions to graduate medical education and his stature as a nationally recognized leader in pathology education. (2/2023)

Congratulations to Dr. Yvonne Janssen-Heininger, Ph.D., Dr. Kelly Butnor, M.D., Dr. David "Bebo" Seward, M.D., Ph.D., and Dr. Sharon Mount, M.D., on their news story in The Charlotte News, on their "giant steps in cancer research." Read the full article here:   Humble Superstar (1/2023)

Congratulations to Dr. Elizabeth Bundock, M.D., Ph.D., Chief Medical Examiner of Vermont and clinical assistant professor of pathology, for her appointment by the American Board of Pathology, to the Test Development and Advisory Committee for Forensic Pathology 2023. (1/2023)

Dr. Beri Zhang, M.D., Ph.D., MLS(ASCP), associate professor of pathology and laboratory medicine, presented a panel, at the Snow Season Education Retreat, titled "The Pearls and Pitfalls of Publishing in Medical Education", with three clinicians Dr. Hale, Dr. Halle, and Dr. Rideout. (1/2023)

Congratulations to Dr. Bronwyn Bryant, M.D., assistant professor of pathology and laboratory medicine on her Awards for  Teaching and Educational Excellence, Learner Assessment, conferred at the Teaching Academy Induction and Award Ceremony on January 11, 2023. (1/2023)

Albert in JapanCongratulations to Dr. Albert van der Vliet, Ph.D., pro-fessor of pathology and laboratory medicine, for being selected as an Invited Fellow to Tohoku University in Sendai, Japan, to participate in research in the laboratory of Takaaki Akaike, M.D., Ph.D., professor of environmental medicine and molecular toxicology. The invitational fellowship relates to a Tohoku University initiative that allows Tohoku faculty members to host invited researchers to promote collaborative research in the host lab for up to three months. The objective is to promote joint publications and expand international collaborations. Dr. van der Vliet's visit coincided with a medley of scientific meetings and symposia collectively termed  Redox Week In Sendai 2022 and held October 27-November 1, 2022. The events brought together leading scientists from around the world in the specific research fields of nitric oxide biology, polysulfur biochemistry, and biology. Van der Vliet was co-organizer and speaker at one of the symposiums, and Yvonne Janssen-Heininger, Ph.D., and Brian Cunniff, Ph.D., both professors of pathology and laboratory medicine, also participated as invited speakers. Additional Japanese federal funding supports the exchange of invited researchers, graduate students, and post-doctoral scholars to collaborate on research. Read more about the  redox research collaboration  between UVM and Tohoku University. (01/2023) 

Congratulations to Dr. Douglas Taatjes, Ph.D., professor of pathology and laboratory medicine, and director of the Center for Biomedical Shared Resources, at the UVM Cancer Center's recent annual scientific retreat he and Dr. Alan Howe, Ph.D., professor of pharmacology, were chosen from a group of five cross-disciplinary teams that competed for $25,000 in seed funding. They were chosen by a vote of the membership. Each team had 30 minutes to develop an idea with an actionable research plan that aligned with one of several proposed Cancer Center initiatives to address research relevant to the populations of Vermont and northern New York. The funds were awarded for the "Spatialomics and Precision Medicine Pipeline" project. This will be co-led by Dr. Taatjes, Ph.D., and Dr. Howe, Ph.D. (12/2022)

DebraDr. Debra Leonard, M.D., Ph.D., was the invited speaker for the Women in Cytometry reception at the 2022 International Clinical Cytometry Society Annual Meeting in Montreal on October 23. Dr. Leonard presented a talk titled "Leading from Within". Dr. Nicholas Haslett presented a poster at this same meeting. (10/2022)

Congratulations to Dr. Yvonne Janssen-Heininger, Ph.D., on her Lung Cancer Discovery Award from the American Lung Association. Read the full article here: VermontBiz (10/2022)

Larner Medicine profiles Dr. Yvonne Janssen-Heininger, Ph.D., and her research. Read the full profile here: Probing Oxygen's Mysteries (10/2022)

Research News see the news on UVM vaccine trials on eradicating polio and lead investigator Dr. Jessica Crothers, M.D., Read the full article here:  Research News (10/2022)

Congratulations, to Dr. Laura Greene, M.D., professor of pathology and laboratory medicine and assistant dean for admissions, who recently accepted an appointment as program director of the Pathology Residency Program, effective July 1, 2023. Thank you to Dr. Scott Anderson, M.D., professor of pathology and laboratory medicine, who as served as the program director since 2009. (10/2022)

Congratulations, to Dr. Jason Brazelton, M.D., for being named Physician of the Year by the Vermont Medical Society. "Dr. Brazelton's thoughtful and collabrative approach has improved care in our community and Porter's Medical staff has been incredibly fortunate to work with him." (09/2022)