Genetic Testing Advice from the Family Cancer Risk Program

Genetic testing plays an important role in hereditary risk assessment for breast and other cancers.

“Our ability to uncover information about human genes has taken off over the last decade. The ability to understand this information and its effects on health and disease is steadily improving as well. We are learning more and more about the genetics that we are born with and can pass on to our children. In some cases, we are also using information about changes in the genes within one cell, tissue, or tumor that have been acquired during our lifetime,” said Dr. Mary-Alice Abbott, chief of medical genetics at Baystate Medical Center.

A diagnosis of breast and other cancers often prompts people to learn more about their family histories, only to learn they have inherited a cancer susceptibility gene.

Only a Minority of Cancers

“Still, only a minority of cancers are related to a hereditary syndrome. For example, in women with a diagnosis of breast cancer, less than 20% are related to a familial tendency,” said Dr. Grace Makari-Judson, medical director of the Family Cancer Risk Program.

A woman with an average risk of breast cancer has about a 12% chance of developing breast cancer, while only 1 in 1,000 men will develop breast cancer, according to the American Society of Clinical Oncologists (ASCO).

If a woman’s first-degree relative – mother, sister, brother, children – develops breast cancer, her risk is double the average woman’s risk. If two first-degree relatives developed breast cancer, the woman’s risk is five times the average risk.

A Team Approach

Baystate’s Family Cancer Risk Program takes a team approach to advising individuals on whether or not to consider testing, which test to have done, and if it is the right time in their lives to consider testing and act upon the results.

“It is a three step process. First, primary care providers need to review your personal and family history of cancer. Second, they should refer appropriate individuals to cancer genetics specialists to consider testing. Finally, individuals need appropriate counseling before and after testing to determine personalized strategies to reduce or prevent cancer,” Dr. Makari-Judson said. 

As Dr. Makari-Judson noted, it all begins by getting your medical history as well as family history.

Impact on Family Members

“Details of these histories are important because they can help us determine if someone meets current criteria to warrant testing for hereditary cancer predisposition syndromes. With some families we determine that it is very unlikely for the family history to be due to a hereditary cause, and that is good news,” genetic counselor Allie Richards said.

If genetic testing is deemed appropriate, then the patient is scheduled for genetic counseling. In a counseling visit, discussion centers on how test results may affect an individual’s own medical management, as well as the impact on their children, siblings, and other family members.

There are also the “pros and cons” of testing to consider.

This isn’t your average blood test. Any harmful changes to our genes that can increase our risks for cancers and other disease are with us from birth and don’t change. We also share our genes with our families. Not everyone wants to know that they have higher chances to develop certain types of cancers or tumors or think about how test results could affect family members,” Richards said.

She noted that knowledge can be a huge weight in someone’s life. That is why they work with patients to determine if this genetic information will be helpful to them and if it is the right time in their lives to receive that info.

An Upside to Testing

If someone does test positive, there is an upside to the results.

“The upside to learning you have a genetic predisposition to cancer is that you can then be monitored more closely with screening or pursue options for surgical prevention or risk-reducing medication. Also, if someone has higher chances for a cancer we cannot prevent, then we want to monitor them earlier in life and more frequently so that if cancer does happen, we have better chances of detecting it earlier,” Richards said.

“People also need to understand that while genetic testing may help to identify individuals at higher risk for cancer, a negative genetic test, unfortunately does not mean that someone will never get breast or another form of cancer,” Dr. Makari-Judson added.

Other Genes Beyond BRCA

While a large majority of the hereditary breast cancers seen at the Family Cancer Risk Program are the result of BRCA1 and BRCA2 gene mutations, it is still a very small subset of all who develop breast cancer.

“There are certainly other genes that may increase a person’s risk of breast cancer and research scientists are hard at work trying to identify them and to make testing even more successful,” Dr. Abbott said.

She noted that in addition to mutations of the BRCA1 and BRCA2 genes, several other genes are linked to an increased risk of breast cancer. Among the hereditary cancer syndromes associated with breast cancer risk include Ataxia Telangiectasia (A-T), Li-Fraumeni syndrome (LFS), Cowden syndrome (CS), and Peutz-Jeghers syndrome (PJS).

The US Preventive Services Task Force latest recommendation is for women to be tested who personally have been diagnosed with breast, ovarian or tubal cancer in the past, but completed treatment and are considered "cancer free," and those who have certain ancestries associated with BRCA1 or BRCA2 mutations, such as being of Ashkenazi Jewish descent.

The Family Cancer Risk Program at Baystate incorporates the USPSTF guidelines, as well as criteria from the National Comprehensive Cancer Network (NCCN) to provide access to the most up-to-date approaches to cancer genetics.

To Make an Appointment

Learn more information on Baystate Medical Center’s Family Cancer Risk Program or call 413-794-8890.