BRCA genetic testing for breast and ovarian cancers: It's easier than
ERIKA ARCHER LEWIS
Twenty years ago, while a college senior, I spent weekends commuting from Austin to Houston to care for my 42-year-old mother. She was battling an aggressive form of stage IV breast cancer and was told her odds for survival were less than 20%. After witnessing first-hand her intense, four-year battle that included chemotherapy, radiation, bone marrow extraction, a mastectomy and breast reconstruction, I wondered for years if and when breast cancer might strike me.
A family history of breast cancer
When my young, healthy, active mother was diagnosed with breast cancer, there was no pattern of women with breast cancer in her family history. But shortly after she was diagnosed, her cousin was diagnosed with the same cancer, even in the same breast. Since that time, there have been four other women on my maternal grandmother's side of the family who have struggled with or lost their lives to breast cancer.
In late 2013, after a series of suspicious mammograms, ultrasounds, an MRI, and three biopsies, I wondered if I was doomed by the pattern within my family that had reared its ugly head decades before. With recent advances in technology and medicine, I learned there was a simple blood test for identifying genetic mutations for breast and ovarian cancer, BRCA 1 and 2. I felt an overwhelming need to know if I had what felt like a ticking time bomb inside my chest.
During the aforementioned complications and after reviewing my family history, my gynecologist offered for me to take the genetic test at her office. The nurse extracted a small amount of blood for the BRCA test, sent if off to the lab, and a week later the result came back BRCA 2 positive with a "deleterious" mutation.
I had to look up the word. "Deleterious: causing harm or damage; harmful, damaging, detrimental, injurious." I felt numb. Although I had the information written in black and white in my hands, "as much as an 84% risk of breast cancer and a 27% risk of ovarian cancer," I wasn't sure what to do next.
I called my gynecologist and she recommended I meet with a genetic counselor and consider a prophylactic double mastectomy and an oophorectomy, to reduce my chances of breast and ovarian cancer.
My decision to have a double mastectomy
I had recently heard about celebrities pro-actively having double mastectomies, but until then I had no idea that it was an option for me. I'm just an average, happy homemaker and mother of two little girls. But, after meeting with surgeons and discussing my options for decreasing my chances of hereditary breast cancer, it was obvious that with my family history, my positive BRCA 2 genetic mutation, and recent complications during my annual mammogram, my best option was a prophylactic double mastectomy.
Choosing to undergo a double mastectomy is a serious decision, but I knew in my heart it was the right choice for me. I didn't want to live with the ongoing fear that breast cancer could strike at any time, and I had an overwhelming need to do everything I could to literally change my family's history for my two young daughters.
Although it's a process to undergo any life-changing surgery, it has been worth it for the peace of mind it brings me and I have felt empowered because I live in an age when I can take advantage of significant advancements in medicine and technology -- a choice my mother, aunts, and cousins did not have just 20 years ago.
Tips for others considering genetic testing
How, where, when, and why you choose to have the test for a BRCA 1 or 2 mutation is up to you, but the technology exists and is accessible. Here's a breakdown of how easy it was:
A simple blood test was conducted at my gynecologist's office.
It took less than five minutes.
My gynecologist sent the blood sample off to the lab and the results came back within a week.
Several insurance carriers participate in payment for all or some costs associated with the genetic test. In my case, I was informed that if the out-of-pocket expense to me was greater than $330, the lab would contact me directly to ask if I wanted to proceed.