Responding to requests from patients and primary care physicians for greater use of genetics in tailoring clinical care, Massachusetts General Hospital (MGH) has launched a Preventive Genomics Clinic, aiming to empower patients to better understand, predict and prevent disease using genetic information.
As a November 2019 Healthcare Innovation feature story detailed, the direct-to-consumer genetic testing boom caught most health systems by surprise because their primary care providers felt largely unprepared to discuss the implications of genetic testing with their patients. Now many innovative medical organizations are working to better support their primary care clinics and make genetic testing a routine part of clinical work flow. Health systems have found doing genetic screening for diseases such as breast cancer in primary care settings difficult due to rapidly changing guidelines, a shortage of genetic counselors, reimbursement issues, and a lack of time and knowledge.
The new Boston clinic is embedded within the primary care practices of MGH. “We believe DNA testing will be a key piece of routine care in the future,” said Amit V. Khera, M.D., an MGH cardiologist and co-founder of the new clinic, in a prepared statement. “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, in a statement. “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.
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 National Institutes of Health-sponsored All of Us 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, Ph.D., chief genomics officer at MGH, in a statement. “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.”
