Genetic Testing – BRCA2+ Patient Experience

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By Rebecca Seago-Coyle

When I was diagnosed in 2010 with breast cancer, I was 35. I had always given my family history to my health care providers and mentioned the fact that my father died of prostate cancer at 63, his mother and sister died from breast cancer, my cousin had breast cancer at 30 and my maternal grand mother also had breast cancer. I never thought to ask my family when my dad’s mom and sister had died. I knew they were young, but I didn’t think it mattered. So, when I found the lump in my own breast at 34 and reminded my doctor about my family history, she said it didn’t matter. She told me they only cared about it if your mother or sister had breast cancer. In the back of my mind, I remembered from college biology that you get half your genes from your father and the other half from your mother, but what did I really know, I didn’t go to medical school. I was also in the best shape of my life; I couldn’t have cancer. So, I let the lump sit there and grow for over a year.

As it turns out, the family history – on both sides does matter - and the fact that my aunt and grandmother were diagnosed at 28 with breast cancer and then later passed away at 34 mattered a great deal. I finally got around to ask my family for the details. A year after I had found the lump, my husband encouraged me to go see someone else. At that point, no one really thought it was cancer, but we were going to go through the motions to just reassure ourselves. At the end of the day, it turned out it was cancer.

The first doctor I saw wanted to give me standard of treatment with no regard to long term side effects, quality of life, or even what I wanted. My second opinion ordered the genetic testing (with counseling) based on the information I told her about my family which ultimately gave me options. We felt that the results would let us know how to react and how aggressive we needed to be. The results came back with BRCA2 mutation which they also told me I had qualified for a mammogram at 18 – that piece of information was not helpful at that time. I had a bilateral mastectomy, chemo, reconstruction and had my ovaries removed. This was the best treatment for me. Someone else with the same mutation and same circumstances has the right to choose what’s best for them.

Recently, I downloaded the Outcomes4Me app and was notified earlier this week that there is recent news in testing more women for the BRCA1/2 gene. Given I have already been through testing, I was intrigued. The recommendation comes from the US Preventative Services Task Force (USPSTF) which urges the medical community to widen parameters to assess whether or not to test for BRCA 1/2 mutations. While some doctors feel that it could create fear with a patient, the benefits of knowing what you’re up against are huge. The article goes on to discuss the at home-based testing which is great for knowing if you have the gene for liking cilantro or not but for more sensitive topics like cancer, maybe you should rely on your doctor. For cancer patients or survivors, genetic testing can help guide you through decisions both short term and long term.

The Outcomes4Me app has a genetic survey to help determine if you could benefit from genetic testing. This is a great tool to assess if you are a good candidate for genetic testing and can help you have a conversation with your provider. Knowledge is power but this type of knowledge can affect your entire life.

Nine years after my diagnosis, I’m aware of my risks and feel comfortable with the decisions I made. Whether you’re newly diagnosed or have already been through treatment, knowing your genetics can help validate the need for additional screening.

Ariel TorresComment