Dr. Agrawal explains the importance of genetic testing and what new guidelines could mean for patients with breast cancer.

Published: March 25, 2019 | Updated: September 11, 2023

The American Society of Breast Surgeons released new guidelines recently stating that genetic testing should be made available to all patients with a personal history of breast cancer. This is an important update, because it expands on existing testing criteria set forth by the National Comprehensive Cancer Network (NCCN) and recognizes that patients who do not meet the NCCN criteria for genetic testing still may have a risk of carrying genetic mutations.

Currently, insurance companies may not pay for genetic testing of all patients with breast cancer, therefore we still look to established guidelines for selecting patients for testing. As more data is released, these rules are likely to change, hopefully expanding the number of patients with breast cancer who will receive genetic testing.

At Norton Cancer Institute, genetic counselors attend our multidisciplinary breast cancer conferences to help identify more patients who may currently qualify for genetic testing.

Why genetic testing is important for patients with breast cancer

Genetic testing identifies mutations that may cause a person to have a higher risk of developing certain types of cancer. For example, women who carry BRCA1 and BRCA2 mutations have a significantly higher than average risk of developing breast cancer or ovarian cancer. There are several mutations that can be identified by genetic testing. 

Genetic testing is done through a blood test or a cheek swab. Genetic testing is important because it helps define the patient’s risk of developing a second breast cancer in the future or higher than average risk of developing other types of cancer in the future. In addition, it may lead to finding family members who carry a mutation and therefore may be at higher than average risk of developing cancer. 

For patients who have known mutations that carry a higher risk of cancer, such as BRCA1 and BRCA2, more intensive screening methods can be done. This may include using breast magnetic resonance imaging (MRI) in addition to mammograms alone or having preventive surgery to remove both breasts and ovaries to reduce the risk of breast and ovarian cancer.

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Current genetic testing guidelines

The established guidelines for genetic testing try to identify patients who may be more likely to carry a genetic mutation. These guidelines include:

• Patients who are diagnosed under age 50
• Patients with a triple-negative breast cancer diagnosed under age 60. A triple-negative breast cancer tests negative for three things – the hormones estrogen and progesterone and the protein HER2 – and tends to be more aggressive than other forms.
• Patients with multiple family members with breast cancer
• Patients with family history of ovarian cancer or pancreatic cancer 

There are also other factors that go into who may qualify for genetic testing.

At Norton Cancer Institute, our geneticist, Kara M. Goodin, M.D.,  along with our team of genetic counselors, help determine which patients are good candidates for genetic testing. They counsel patients on the implications of genetic testing and help determine the best testing options through the genetics clinic. 

Genetic testing before a cancer diagnosis

Genetic testing can be an extremely important tool for some individuals even prior to a breast cancer diagnosis.  This may include patients who:

• Have a family member with a known genetic mutation that causes increased risk of developing breast cancer or other cancers
• Patients with a family history of breast and/or ovarian cancer

For example, if a patient is diagnosed with breast cancer and is found to have a BRCA1 mutation, then her adult daughter could undergo genetic testing to see if she also carried the BRCA1 mutation. If she did, she would be eligible for more intensive screening, including breast MRIs and mammograms starting at a younger age than the average-risk screening guidelines. Furthermore, she would be eligible to consider a bilateral preventive mastectomy, a surgery to remove both breasts, or bilateral oophorectomy, a surgery to remove both ovaries, to reduce the chances of being diagnosed with ovarian cancer. For certain genetic mutations, the risk of developing cancer starts at a much younger age — even before women typically start breast cancer screening. 

Genetic testing at Norton Cancer Institute Breast Health Program

Patients who do not have a diagnosis of breast cancer, but may be at higher than average risk based on family or personal history, can be seen at the Breast Clinic at Norton Breast Health Center – Brownsboroto have a personalized breast cancer risk assessment with personalized screening recommendations. When appropriate, patients may be referred to our genetics clinic or medical oncology team for consideration of risk-reducing medications or surgical evaluation.

Patients who underwent genetic testing in the past may have had only limited genetic testing. In the past, some women with a breast cancer diagnosis were tested only for BRCA1 and BRCA2. Now, expanded panel, multi-gene testing includes many more genetic mutations that could carry increased risk of breast cancer. Patients who had genetic testing in the past with a limited panel should consider repeat testing with an expanded panel. This may result in finding genetic mutations such as ATM, CHEK2, PALB2 or others that would have important implications for the patient and her family.  Patients should talk to their doctors to see if updated genetic testing is appropriate for them.

Laila S. Agrawal, M.D., is a hematologist and oncologist with Norton Cancer Institute.