UVM Health Network starts DNA testing program to find disease risks

BURLINGTON, Vt. (WCAX) A new pilot program at the University of Vermont Health Network is using genomic testing to determine if patients are at risk of certain diseases.

The free DNA testing is only being done by one doctor with 10 patients right now, but more doctors are being added soon. It tests for 147 genes that are indicators of increased risk for certain diseases.

"We want to take a more preventative strategy toward health care," said Dr. Debra Leonard, the chair of pathology and laboratory medicine at UVM Medical Center.

Results might show a genetic cause for something like high cholesterol or the more severe, such as a risk of cancer. The health network has partnered with genetics company Invitae to do the actual lab work.

"Getting them the information is only one aspect of it, helping them understand what to do with the information and how to use it to improve their health is another important aspect," said Dr. Robert Nussbaum, the chief medical officer of Invitae. "What I like about this program is the University of Vermont and Invitae covering both of those aspects."

When patients get their results, their doctor discusses potential treatment and/or counseling. Genomic testing made headlines in 2013 when actor Angelina Jolie discovered she carried the BRCA1 gene -- linked to an increased risk of breast and ovarian cancer. As a result, Jolie chose to have a double mastectomy.

Knowing you're at risk for a disease may seem scary, but Leonard says studies show there isn't a lot of anxiety or detrimental impact with knowing sooner.

"Is it better to know that you might be able to prevent a rapidly growing cancer that was undetected for a longer period of time rather than knowing you have this risk and being able to monitor more closely," said Leonard.

Nussbaum says he believes the testing will be beneficial for people and their families.

"I think most people, not all but most, will want to know if they are at risk at something that they can intervene on that will protect their health and also, very importantly, will have implications for other members of their family who will also want to protect their health," said Nussbaum.

Patients also have the option to share their information with LunaDNA to further genomic research but patients have control over how their data is used.

The UVM Health Network is also working on doing genetic health check-ups with patients.

"About every two years or so we will likely be doing a reanalysis of each patient's genome to see if we can now report things that we know are disease-causing that we didn't know before," said Leonard.