Key Takeaways

  • New clinic will empower patients to better understand, predict and prevent disease using genetic information.
  • The clinic will be embedded within primary care practices at MGH and also feature an 'eConsult' program

We believe DNA testing will be a key piece of routine care in the future.

Amit V. Khera, MD
Co-founder, Mass General Preventive Genomics Clinic 

BOSTON – In the last two decades, scientific advances in human genetics have greatly enhanced the understanding of how variation in our DNA can contribute to a risk for many health problems – including cardiovascular disease, cancer and diabetes – while also creating opportunities for targeted therapies. Today, Massachusetts General Hospital (MGH) is announcing the launch of a new Preventive Genomics Clinic, aiming to empower patients to better understand, predict and prevent disease using genetic information.

The new clinic is embedded within the primary care practices of MGH and was born out of requests from patients and primary care physicians (PCPs) for greater use of genetics in tailoring clinical care.

“We believe DNA testing will be a key piece of routine care in the future,” said Amit V. Khera, MD, an MGH cardiologist and co-founder of the new clinic. “But, in many cases, our PCPs were unsure which of the available genetic tests were most appropriate for their patients – or how best to integrate that information into an individualized screening or treatment plan. That’s why it was so important for us to root ourselves within primary care from the start.”

Common reasons for referral include requests for interpretation of an existing genetic test result, concern about a strong family history of disease or an interest in learning more about the risks and benefits of testing while still asymptomatic. As part of their care, patients meet with a genetic counselor and physician to collect personal and family history information. If patients decide to proceed with genetic testing, the team reviews testing options, works with the patient’s medical insurance to determine whether it would be covered and then coordinates with the patient’s existing care team to make a treatment plan based on the results.

“What has been surprising is the majority of the tests we’ve ordered have been fully covered by medical insurance based on family history or other indications,” said Renee Pelletier, lead genetic counselor of the new program. “This speaks to the underutilization of appropriate genetic testing for our patients.”

For the subset of patients who are truly asymptomatic and without a family history, the team also offers preventive genomics assessments typically not covered by insurance. Examples include testing for the BRCA1 mutations signaling very high risk for breast and ovarian cancer and mutations that can lead to very high levels of cholesterol and risk for early heart attack. In both cases, treatment options exist to help patients overcome the identified genetic risks.

Recognizing that a formal clinic evaluation can be time-consuming for patients, the team has also launched an ‘eConsult’ program, allowing any physician to request a review of his or her patient’s medical record by the Preventive Genomics Clinic, to determine whether genetic testing or a clinic appointment is likely to be helpful. Staff can also answer questions about ordering new genetic testing or interpreting prior genetic testing results. “In many cases, we are able to answer a key clinical question just based on review of medical records,” said Leland Hull, MD, a primary care physician in the group. “For others, we recommend they be seen in our clinic or one of the several subspecialty clinics available at MGH for more detailed evaluation.”

Moving forward, the clinic expects to see patients who learn of high genetic risk as part of ongoing research studies, including the Partners HealthCare Biobank or the National Institutes of Health-sponsored AllofUs Research Program. Together, these programs will perform sequencing of more than 100,000 participants in the Boston area in the next several years.

“It’s exciting to know we can now support access to genomics long before disease develops, promoting the best outcomes for our patients,” said Heidi Rehm, PhD, chief genomics officer at MGH. “Our goal is to build this resource for our own community and collaborate with other hospitals across the country in defining the best models for this new type of preventive clinical care.”

The new MGH clinic is embedded within the Mass General Department of Medicine and is physically located at 101 Merrimac St. in downtown Boston.

More information about the MGH Preventive Genomics Clinic can be found by emailing:

About the Massachusetts General Hospital
Massachusetts General Hospital, founded in 1811, is the original and largest teaching hospital of Harvard Medical School. The MGH Research Institute conducts the largest hospital-based research program in the nation, with an annual research budget of more than $1 billion and comprises more than 8,500 researchers working across more than 30 institutes, centers and departments. In August 2019 the MGH was once again named #2 in the nation by U.S. News & World Report in its list of "America’s Best Hospitals."