For some Vermonters, their annual doctor’s check-up could become a whole lot more comprehensive than a few pokes and prods with a stethoscope. Some patients at the University of Vermont Health Network are now eligible for DNA tests as part of their annual exam.
The tests are part of a pilot project that will allow primary care doctors and geneticists to identify and treat preventable diseases earlier, said Dr. Debra Leonard, who’s spearheading the project. Using blood drawn as part of the appointment, the tests will analyze 147 genes for mutations that are linked to certain diseases, such as cancer or heart disease. The first patient agreed to a test on Nov. 1.
Over the course of the next year, UVM Health Network doctors plan to test 1,000 patients. The tests are voluntary and free, though patients must be at least 18 years old and receive care from one of the six primary care doctors who will be participating in the project. They also must be a member of OneCare Vermont, the company that’s implementing the state’s all-payer health care system.
If all goes as planned, Leonard is counting on a large-scale expansion. Over the next decade, she said she hopes to offer DNA tests to about 1 million people in Vermont and New York.
The tests could revolutionize the way doctors identify and treat disease, according to Leonard, who is the chair of pathology and laboratory medicine at the University of Vermont College of Medicine.
For instance, patients with familial hypercholesterolemia (FH), a genetic condition that causes high cholesterol, often go undiagnosed for years, she said. Those who never receive a diagnosis die an average of 25 years earlier than similar patients without the condition. A genomic DNA test would identify the disease early on and allow doctors to prescribe medication, Leonard said.
It would also save money. Those with FH often suffer heart attacks; the treatment for a heart attack is substantially more expensive than the routine treatment, according to Leonard.
The DNA screening will also reveal if a patient is a carrier for other diseases. If that’s the case, family members can also be tested.
“What we want to do is look for disease risk for which there may not already be symptoms,” she said.
“The information may help doctors recommend treatment or monitoring, and may empower patients to take steps to lower their chances of developing a serious disease or passing it on,” said Amy Bodette, the director of public affairs for OneCare Vermont. OneCare is providing the waiver that allows UVM Medical Center to offer the service for free.
Eligible patients who decide to participate must sign consent forms and then get their blood drawn by their doctor. The test is sent for analysis to Invitae, a company that is partnering with UVM Health Network on the project. The patient will meet with the medical center’s genetic counselors before and after the test. The results then go to the primary care doctor to make decisions around care.
Leonard’s department is footing the bill for the first 1,000 patients; she declined to say how much it would cost, saying that the contract with Invitae barred her from sharing the total price tag. The university has spent $12 million over the past seven years to create and fund the Vermont Genetics Network, which provided the background research and support for the project.
For now, “There’s no cost to providers, patients, or to the health network,” Leonard said.
Leonard also said she hopes that she could prove to patients that the cost of the tests would be worthwhile for patients to take on; insurance companies typically refuse to cover DNA screening.
Her wager? “The cost of the test is worth the return on the investment,” she said.
DNA testing has been adopted by a variety of hospitals and doctor’s offices, including in Pennsylvania and Illinois. This is the first initiative of its kind in Vermont. The UVM Medical Center already offers DNA testing for specific genes, such as those that indicate cancer or neuromuscular disease, but nothing of the scope and scale of this pilot.
At the same time, Leonard and her colleagues are seeking to avoid the myriad ethical issues that arise with DNA testing. UVM Medical Center will protect the privacy of genetic information and won’t share test results with insurance companies. Genetic information will remain secure as part of the patient’s medical record, Leonard said. Participants can opt to share their information with LunaPBC, a company that includes a DNA database for health and disease management research. LunaPBC de-identifies and aggregates information, according to a press release from the medical center. Neither Invitae, the company that processes the data, LunaPBC, nor the health network will share genetic information.
Because of ethical issues and concerns around consent, children under the age of 18 are not allowed to participate in the study, Leonard said.
In similar cases, critics have questioned whether DNA tests are medically necessary and whether primary care doctors have the tools and training to use them properly. Leonard said that’s why genetic counselors would read the results; patients will receive information about mutations that could have health impacts.
In spite of uncertainties, Leonard’s plans for the project are ambitious. “Three years from now, [testing] will be broadly available,” she predicted. But UVM Medical Center will remain cautious about the roll-out, and will take precautions with how the data is shared, stored, and analyzed.
“Genetic information can be misused and we don’t want to cause harm,” she said.