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Educating Patients, and Physicians, On the Importance of Genetic Testing In Breast Cancer


Genetic and genomic testing is vital for patients with breast cancer and not only do patients need to understand why that is, but their physicians as well.

Genetic and genomic testing has changed the landscape of cancer care, especially for patients with breast cancer and those with metastatic breast cancer. Not only do the results of these tests allow for a better understanding of their disease but provide physicians with a roadmap for treatment, which is why education on the importance of these tests is paramount.

Dr. Elisa Krill-Jackson, hematologist and oncologist at the Sylvester Comprehensive Cancer Center, discussed the significance of genetic and genomic testing in educating patients, as well as their physicians, about their breast cancer diagnosis at the 2020 CURE® Educated Patient Breast Cancer Summit, held March 7, 2020, in Miami, Florida.


So, I think they need to understand what kind of cancer they have. Is it estrogen receptor positive, is it progesterone receptor positive, is it HER2-positive? Anybody with metastatic breast cancer should have a genetic test — no matter what age they were diagnosed at. So, we want to know if they have a BRCA mutation in all the cells in their body because that would allow us to treat them with something called a PARP inhibitor, which is a medication designed especially for patients who have BRCA mutations and it’s a pill that can help control their breast cancer.

I also like to test my patients with what we call a genomic test, so we can test the tumor, or we can test cancer DNA in their bloodstream to see if their tumor has particular changes in it. Now, these aren’t changes that they were born with, these are changes that were made in the cells in the tumor because we have drugs that are targeted at particular changes.

For instance, if we find something called a PIK3CA mutation, we know that they might be a candidate for a drug called alpelasib (Piqray), which has been shown to improve prognosis in women who have the PIK3CA mutation. If they have a mutation in the estrogen receptor of their tumor, then we know that an aromatase inhibitor isn’t going to be a good drug for them, and they can get a different kind of agent or go on a clinical trial for new types of agents.

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