The Importance of Multi-Gene Panels

Did you know that BRCA is NOT the only genetic variant you should be testing for? (Yes, this means if you ONLY were tested for the BRCA variant you should speak with a genetic counselor and ask for full panel testing!)

I was recently chatting with a breastie who was diagnosed with metastatic breast cancer years ago. She was telling me that her daughters are “in the clear” because they tested negative for the BRCA variant.

I hated to be the one to tell her this but she was shocked when I explained that BRCA is not the only gene they should be testing… there are several other genes that are known to be related to the development of cancer too.

Breast cancer impacts millions of people every year. In fact, it's estimated that one in eight women (I will typically use gender inclusive language on my website when I can) will be diagnosed with breast cancer in their lifetime. While there are many factors that can contribute to the development of breast cancer, including age and family history, one important factor is genetics.

Genetic testing can help identify whether a person has inherited a mutation. 

While the BRCA1 and BRCA2 genes are among the most well-known genes associated with breast cancer risk, there are actually many other genes that can also impact a person's risk for breast cancer. These genes are collectively referred to as "breast cancer susceptibility genes," or "BCSGs."

In addition to BRCA1 and BRCA2, there are several other genes that have been linked to an increased risk of breast cancer, including PALB2, TP53, CHEK2, and ATM, among others.

Some of these genes are also associated with other types of cancer, such as ovarian cancer, pancreatic cancer, or melanoma.

Full genetic testing panels, also known as multi-gene panels, are a type of genetic testing that analyzes multiple genes at once, rather than just one or two. These panels can provide a more comprehensive picture of a person's risk for breast cancer, as well as other types of cancer.

Multi-gene panels can be particularly useful for individuals with a family history of cancer but no identified BRCA mutation, as they may help identify other genetic mutations that are contributing to their risk. They can also be helpful for individuals who have been diagnosed with breast cancer at a young age or who have multiple family members with breast or ovarian cancer, as these factors may indicate an underlying genetic predisposition.

It's important to note that while multigene panels can provide valuable information about a person's cancer risk, they can also be complex and challenging to interpret. This is why it's important to work with a genetic counselor or other healthcare provider with expertise in cancer genetics to understand the results of genetic testing and make informed decisions about screening, risk reduction, and other aspects of cancer care.

Despite the importance of genetic testing for breast cancer risk, there are significant disparities in access to genetic testing and counseling, particularly for underserved and marginalized populations. Health equity is an important issue, and it's essential that everyone has access to the information they need to make informed decisions about their health.

Here are some tips for accessing genetic testing for breast cancer risk:

1.Talk to your healthcare provider: Your primary care physician or gynecologist can help you determine whether genetic testing is appropriate for you. They can also refer you to a genetic counselor who can provide additional information and support.

2. Check your insurance coverage: Many insurance plans cover genetic testing for breast cancer risk, but it's important to check with your provider to understand your coverage and any out-of-pocket costs.

3. Look for free or low-cost resources: There are many organizations that offer free or low-cost genetic testing and counseling for individuals who meet certain criteria, such as low-income individuals or those with a family history of breast cancer. Some of these include: National Cancer Institute's Cancer Genetics Services Directory and the Breast Cancer Genetics Referral Screening Tool.

4. Consider participating in research studies: Some research studies offer genetic testing and counseling as part of their program, and participation in these studies can help advance scientific knowledge about breast cancer and improve access to testing and treatment for underserved populations.

Genetic testing for breast cancer risk is an important tool that can help you make informed decisions about your  health. It's essential that everyone has access to this information, regardless of their race, ethnicity, or socioeconomic status. By working to address disparities in access to genetic testing and counseling, we can help promote health equity and improve outcomes for all individuals affected by breast cancer.