The Family Connection: New Guidelines for Breast Cancer Genetic Testing
While it’s been known for years that family history plays a part in breast cancer risk, researchers are continuing to determine just how large that part is. More and more breast cancer-specific genes (beyond the most familiar, BRCA1 and BRCA2) are being identified — and it’s important that both women and men understand they may be at increased risk for breast cancer if certain genes show mutations.
So how do you find out if you carry these specific mutated genes? Genetic testing, a simple procedure that maps a specific set of genes, followed by genetic counseling, which helps you interpret your test results.
The guidelines for determining who needs genetic testing changed on Jan. 1, 2018. What do these new guidelines mean to you — either as a survivor, or as a person with a family history of breast cancer?
Age at diagnosis
As of Jan. 1, you’re a candidate for genetic testing if you were diagnosed with breast cancer under the age of 45; or if you were diagnosed under the age of 50 and also have a family history of cancer. In addition, women diagnosed with breast cancer under age 50 with no known family history are advised to get genetic counseling, with a potential to be tested. These new guidelines have been issued by the National Comprehensive Cancer Network (NCCN), the chief body responsible for transforming research into actionable practice for oncologists.
The NCCN provides a constant flow of updated information about all types of cancer to oncologists, along with data-based recommendations for treatment. Doctors use this information to help them devise treatment plans for their patients. Thus, NCCN guideline changes are closely followed by those oncologists determined to do the very best for their patients — including Gary Schwartz, M.D., whom I’ve been seeing regularly since my own breast cancer diagnosis in 2001.
Dr. Schwartz, besides being a practicing breast oncologist, is an associate professor of medicine at the Geisel School of Medicine, Dartmouth College. He’s always up on current research, and has guided my treatment from surgery, chemotherapy, and radiation through nine years of hormone therapy, plus treatment of resulting side effects.
When Gary talks, I listen. A born teacher, he’s also very open to questions. So when he suggested at our appointment in October that I might explore genetic testing, I asked why.
After explaining that the NCCN guidelines had changed, and that my diagnosis at age 47 (plus a family history of cancer) now qualified me for testing, I persisted: “I’ve already had breast cancer; why do I need to know if I’m at risk? I have no daughters or sisters, and my mother is gone. I have only one son, and his risk must be very small.”
Gary responded, “Well, what about breast cancer in your other breast? Depending on your genetic test results, you might want a prophylactic mastectomy. And you might also be at increased risk for ovarian cancer.”
Genetic testing may save your life
Ouch, good point, I thought. While breast cancer is usually very curable, ovarian cancer is much less so. And its early symptoms are difficult to identify; many women are diagnosed with ovarian cancer when it’s quite advanced. Genetic testing would tell me just how serious I need to be about ovarian cancer: monitoring for it, or even perhaps having my ovaries removed.
With researchers learning more and more about the link between genetics and cancer, and genetic testing becoming ever more precise, it behooves all of us — survivors, relatives of survivors, and those with any other reason to suspect they may be at genetic risk (e.g., women of Ashkenazi Jewish descent) — to understand our own personal cancer risk.
I’m scheduled for genetic testing and counseling soon. How about you?
*To see the updated breast and ovarian cancer genetic testing criteria, you can set up a free NCCN account. Or, more simply, ask your doctor about the criteria and whether genetic testing is right for you.
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