Genetic Testing and Receiving Counseling from Your Healthcare Team

Janice Cowden is a passionate patient advocate living with metastatic triple-negative breast cancer since 2016. Janice feels very fortunate to have No Evidence of Disease (NED) after having a complete response to her first line of treatment. She recently sat down to talk with us about genetic testing and counseling, having open conversations with your healthcare team, and the importance of advocating for oneself. You can check out her previous videos on community support here.

Genetic testing and counseling

Genetic testing is used to identify changes (mutations) in a person’s DNA. These mutations can provide important information about a medical diagnosis and how to treat it.¹

Some genetic mutations increase the risk of developing certain cancers. And some people with the mutations are more likely to develop cancer than others.^1,2

Genetic testing for breast cancer that runs in a family (hereditary breast cancer) looks for mutations in the BRCA1 and BRCA2 genes. These are the genes most commonly linked to hereditary breast cancer.^1,2

Genetic testing is recommended for those who have:^1,2

• A family history of breast cancer
• A personal history of breast cancer
• A personal history of other cancers such as ovarian, fallopian tube, or primary peritoneal cancer
• A confirmed BRCA1, BRCA2, or another inherited mutation

What should genetic counseling look like?

Genetic counseling provides support and guidance for those who have gone through genetic testing. Genetic counseling can help you and your family make informed decisions based on the test results.²

Genetic counseling can also be done before genetic tests are done. This can help you decide which tests you need, depending on your medical history and your family’s medical history.²

If you choose to have genetic counseling, you will meet with a genetic counselor. This person will help you understand your genetic test results and decide on next steps. This is a good opportunity to ask questions and learn more details about your overall treatment options.²

Janice shares her experience with genetic testing but not having the option to receive genetic counseling.

Biopsy results

A biopsy is a sample of tissue that is taken from your body for analysis and testing. The results of a breast biopsy can tell your doctor whether or not the tissue is cancerous. This can help guide them in treating the cancer.³

Not long ago, chemotherapy was the only treatment for advanced breast cancer. But treatment options have evolved, and new treatment options are now available. In fact, several targeted therapies are being used to treat breast cancer.⁴

Targeted therapies are drugs that target cancer cells to destroy or slow the growth of tumors. Research has shown that targeted therapies may work when chemotherapy does not. And some targeted therapies can help other types of treatment work more efficiently.⁴

Discuss your options with your healthcare team. Ask questions. Voice any concerns you may have. It is important that you are involved in all treatment conversations..

Hear once more from Janice and her experience of not really having a say with her treatment plan.

Should I get a second opinion?

There are a number of reasons why an individual might consider seeking a second opinion. Perhaps you want to make sure that your initial diagnosis is correct, or maybe you don't feel comfortable with your current healthcare team, you would like to be more involved in your treatment plan or you want to make sure that your doctor has treated others with your particular advanced breast cancer diagnosis.

Whatever the reason, this is your life and your body and you should feel empowered to seek out a second, third, or fourth opinion! Janice shares why she chooses to do so in the video below.

What additional questions do you have about testing and treatment? Share in the comments or head over to the forums to ask the community.