What You Can Learn From My Genetic Testing
Knowledge is power—the power to seek better treatment, get earlier diagnoses and stop breast cancer in its tracks. Here’s what you can learn from a survivor.
Breast cancer has cast a shadow over my family for generations: My paternal aunt had it twice in her late 30s, my paternal great-aunt died from it in her 40s, and my paternal great-grandmother, her sister and even her brother were all diagnosed with the disease. Knowing I was at risk, I started screening young, in my late 20s, alternating mammograms and MRIs every six months. The idea was that if anything showed up, doctors would catch it early.
In 2013, genetic screening for breast cancer was getting a lot of attention, so with my ob-gyn’s encouragement, I saw a genetic counselor and was tested for BRCA 1 and 2 mutations—the two most well-known genetic markers for the disease and the only ones that were routinely being screened for at the time. When the results came back negative, I definitely felt relieved. But even so, considering my family history, my genetic counselor encouraged me to keep up my mammograms and MRIs. Now my family says all the time, “Thank God for that genetic counselor.” If she had told me I was fine and could just go on my way, doctors wouldn’t have caught the invasive breast cancer I was diagnosed with.
I was 36 and my sons were 7 and 5. I got the news about my biopsy results when I was at their tae kwon do class, which was pretty surreal. I had a double mastectomy and was just about to start chemo when I read a news story about the PALB 2 mutation and its link to breast cancer. So on my first day of chemo, I asked to be tested. The results were positive. It’s been five years since my diagnosis and I’ve been through multiple surgeries, a recurrence in my lymph nodes, two courses of chemotherapy and radiation. But now I’m healthy, feeling good and grateful that I’ve had access to excellent medical care—especially that genetic counselor (thank you, Devanshi Patel at Mass General!) who warned me that BRCA mutations aren’t the only thing to worry about.
And I want to pass that message along to other women. If you have a family history of breast cancer, you need to be vigilant about screening and ask your doctors for a full genetic panel—not just BRCA testing. Even in the medical community, there isn’t enough knowledge about genetic risk. When a cousin of mine wanted PALB 2 testing, her doctor refused to do it without proof that a family member had been diagnosed with the mutation. She had to show them my test results. Before my own diagnosis, I had to fight my insurance company to get early screenings because I didn’t have a mother, sister or daughter with the disease. I had to explain that I didn’t have a sister or a daughter at all—and that the history was on my father’s side. That’s something everyone in the health care world should know. Honestly, it benefits all of us—not just cancer patients—if more people get tested because it helps scientists learn more about how genes and gene mutations affect our health. And that knowledge really does hold a ton of power.