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Family Cancer Risk Program guides patients through the Genetic Screening Process

June 22, 2015

As the field of breast cancer genetics continues to rapidly expand, Baystate Medical Center has launched a Family Cancer Risk Program that provides patients with a coordinated, multi-faceted team to help steer them through every step of what can be a complex process.

“We’ve combined resources and talents into one integrated program,” said Dr. Grace Makari-Judson of the Baystate Health Breast Network. “Our goal is to provide the right test, to the right person, at the right time.”

Genetic testing for breast cancer has entered uncharted territory in recent years. A single laboratory had previously performed nearly all testing for BRCA1 and BRCA2, two genes that that can increase lifetime breast cancer risk up to 80 percent and ovarian cancer risk by 40 percent. After a 2013 Supreme Court ruling that genes could not be patented, other laboratories jumped into the fray. Many began offering not just BRCA testing but gene panels that may capture other less common gene mutations.

Results may be eye-opening, but can leave individuals grappling with what to do with the information. Baystate’s Family Cancer Risk Program offers them not just valuable details on their genetic makeup, but clarity on what to do next.

A Thorough, Coordinated Process

The Family Cancer Risk Program is a collaborative effort between Baystate Genetics, the Baystate Regional Cancer Program at the D’Amour Center for Cancer Care, and the Baystate Breast & Wellness Center. The program features a team of medical oncologists and genetic counselors, a nurse practitioner, and a navigator whose role is to help those referred to the program make their way through each step of the process.

When a patient is referred for testing, the navigator first contacts the patient by telephone or secure email; together they gather a three-generation family cancer history, including information about any family members who have had genetic testing and copies of test results.

“This step is critical,” Dr. Makarai-Judson said. “We now perform a lot of research up front rather than having people come in possibly missing key information. We’re saving them from unnecessary visits, and when they come in, it’s for an appointment that adds value.”

Once the information has been collected, the integrated team meets to tailor a plan for each individual, reviewing the information and determining next steps. This may include deciding whether additional screenings should be performed, and if so, which ones. They also select the appropriate laboratory to use given the type of testing necessary and the individual’s medical insurance requirements.

Those who meet the criteria for genetic testing next consult with a genetic counselor. If testing reveals a gene mutation, patients immediately see a medical oncologist to develop strategies for cancer risk reduction and surveillance. Patients who do not have a genetic mutation, but who may still be considered at high-risk, may choose to continue follow-up through Baystate’s High Risk Screening Clinic.

Patients who do not meet criteria for genetic testing, but who—due to family history and other factors—may still be at a higher lifetime risk, see a nurse practitioner at the Baystate Breast & Wellness Center. Their visit includes discussion of lifestyle and screening recommendations, and they may also decide to receive follow-up care through the High Risk Screening Clinic.

“We don’t just test people to find out whether or not they have a genetic mutation—we help personalize their understanding of what they need to do,” Dr. Makari-Judson said. “We look at their lifetime risk of developing breast cancer. We talk about what they need to do as far as screenings; when to start mammograms or a breast MRI, and how often. We focus also on what they need to do to reduce risk, such as lifestyle changes or taking certain medications.”

Understanding Cancer Risk Genetics

The creation of Baystate’s Family Cancer Risk Program comes at a time in which breast cancer genetics is not only evolving rapidly, but media exposure has generated greater awareness while painting a sometimes incomplete picture.

For example, Dr. Makari-Judson noted, many women have an automatic reaction that if they have a genetic mutation, they need a bilateral mastectomy, but there are other options.

“People need to understand these tests do not predict if you’re going to get cancer and when. They just tell you if you are in a high or a low risk population,” said Beverly Tenenholz, MS, cancer genetic counselor. “You can have a family history or higher risk of developing breast or other cancers without having a gene mutation.”

People often ask for genetic testing if they have family members who have developed cancer, she adds, but screening the person who actually had the cancer provides the most significant information and can save others from unnecessary testing.

“I always encourage people to talk to other family members,” Ms. Tenenholz said. “The more accurate the family history, the more appropriately we can screen them. And to referring physicians, I’d advise that collecting family cancer history on a regular basis is vital. We have no way of going out and finding these patients—they are all sent to us. Referrals are important.”

In the near future, more genetic testing will be offered for pancreatic cancer, colon cancer, melanoma and others, often with direct-to-consumer options. However, the need for counseling from knowledgeable professionals will continue to be key.

“Having results explained by a certified genetics counselor with expertise in cancer genetics is essential,” Dr. Makari-Judson said. “People need to understand their options, and some of the decisions they may need to make are very complex. At Baystate, we offer a sophisticated approach to deal with an ever-expanding database of knowledge. We have the only team in the area available to coordinate this process.”