My aunt Maureen passed first at the age of 40 in 2003. We know she had cancer, but we don't know what type. My aunt Rhonda was diagnosed with breast cancer in 2004 and passed in 2016. My mom was diagnosed with DCIS (ductal carcinoma in situ) breast cancer in 2017. My aunt Teresa passed unexpectedly in October 2020 from an unknown cause. And my mom passed in April 2021; the origin of her cancer remains unknown.
Both my mom and Rhonda had BRCA testing done through their gyns, and they were both negative for the gene. I asked my gyn about testing back in 2013. She said if both my mom and aunt were negative, odds were that I would be too, so I didn't get any testing done.
However, after my mom passed in April, and her autopsy came back inconclusive, I was eager to get some answers of my own. I had my primary care schedule an appointment with the genetics department so I could get tested.
I had a phone appointment on my lunch break, and I remember sitting in the car, trying to tell the genetic counselor my family's complicated medical history. There was also so much I didn't know. I didn't know what my great-grandparents or great aunts and uncles had been diagnosed with or had died from. A lot of my answers about my more distant family were simply, I don't know.
After going over my family medical history, she told me she predominantly saw breast cancer, which I already knew. My mom's side of the family is, unfortunately, full of it. So she recommended I do a breast panel. This meant I would be tested for any gene mutation that is known to cause breast cancer (BRCA 1 and 2), but also any mutations that are associated with breast cancer. I agreed with her recommendation, and she put in the lab orders.
The testing part was super simple. I was sent a kit in the mail, and it only required me to collect saliva in a tube. If you've done your Ancestry DNA or 23andMe, it's exactly like that. You package up your sample in a biohazard bag, put it in the box it came in, put it in a mailing envelope, and ship it back via FedEx. Easy peasy. I was told to wait about two to three weeks for my results.
I knew from the past that news via phone calls is good, in-person appointments are bad, and no news is good news. My results took a little longer than three weeks, but I eventually got a phone call saying everything came back negative; I had no genes associated with breast cancer. I was also sent an email from the laboratory with my results. Being negative for the gene was a relief because, although I know these tests are not the end-all, be-all, I knew I didn't have to make any life-changing decisions, like having my breasts removed, right this minute.
My mom saw a genetic counselor, whom specialized in genetic cancer, back in 2017, when she was diagnosed with breast cancer. He told her that even though her and her sister’s BRCA test was negative, our family most likely had a breast cancer gene that hasn’t been discovered. He based this on the fact that so many of our female family members on my maternal grandmother’s side have had breast cancer. He also advised my mother that my sister and I should begin having screening mammograms 10 years prior to when the youngest person in our family was diagnosed with breast cancer. Rhonda was diagnosed with Stage 2 breast cancer at 42, so we should have our first mammogram at 32.
My sister also got genetic testing done. When she had her most recent mammogram, the radiologist called her with her results and Kasey told her she would like to have genetic testing. The radiologist had a referral sent in, and they scheduled my sister. Her testing was different only in that she chose to go in to have her blood drawn. She got her results in a few weeks and her breast panel was negative as well.
Thankfully as technology has advanced, the cost of genetic testing has significantly decreased. When Angelina Jolie had a double mastectomy back in 2013 and brought awareness to genetic testing, the average cost was about $3000. When I consulted with the genetic counselor, she told me the most I would pay, if insurance didn’t cover it, would be $300. Because of my family history, and great health insurance, I never paid anything.
Everyone has different opinions regarding genetic testing. Some people want all the answers, and some people are okay not knowing. Before my mom passed, I had no interest in having testing done, but once she died I wanted to do everything I possible could to take care of myself. I knew if I ever had breast cancer in the future, I would never be able to forgive myself for not getting tested. I encourage everyone to explore all of the genetic testing options, especially if you have a family history of cancer. Knowledge is power, and prevention and early detection are the biggest lifesavers when it comes to cancer.
If you’re interested in more information about genetic testing for breast cancer click here. If you live in the central Virginia area and want to schedule an appointment with a genetic counselor click here. You can also reach out to your ob/gyn or primary care physician to discuss your options for genetic testing.
BeST,
Brittany
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