I got genetic testing to understand my cancer risk. Here’s my experience.

By Sophia Mathews, Communications Coordinator, Prevent Cancer Foundation

When my mom’s younger sister was diagnosed with Stage III ovarian cancer in 2020, the doctors did a genetic test and found that she has the BRCA1 genetic mutation—which increases risk of breast and ovarian cancers, or less commonly, of prostate and pancreatic cancers.

Because of that, my mom got genetic testing done too. I remember not knowing anything about the BRCA1 gene or what it meant when my mom told me she had the mutation, like my aunt. She told me since we have an Ashkenazi Jewish background, we’re more likely to have this genetic mutation (one in 40 people of Ashkenazi Jewish descent has a mutation in the BRCA gene).

My mom’s what is known as a previvor. Knowing that her cancer risk was higher than the average person’s, she opted to get a preventive double mastectomy and hysterectomy. It was a tough couple of years for her with both procedures almost back to back, but now she has more peace of mind knowing that she’s greatly reduced her risk of breast and ovarian cancers. She also told all of our family members about her genetic testing results so we could be empowered and make informed decisions about our health.

That’s where I had a decision to make. Since my mom has the BRCA1 mutation, I had about a 50/50 chance of having it, too. I waited a few years until I decided to pursue genetic testing. I learned about my family’s results when I was 20, and at my next annual physical, a doctor told me I should wait until I was 25 to get tested. I had another provider question why 25 was the magic age, and yet another provider said it was up to me when to get genetic testing done. When I finally did get my appointment, I learned that screening options for people with a BRCA1 mutation start at 25, so maybe that’s why my first doctor suggested that age, but it’s up to you if you’d rather know sooner. The moral of the story here is to make sure you’re following guidelines based on what you are testing for.

At 24, I decided to just get on with it. I told my primary care provider that I was interested in genetic testing and she gave me a referral to a breast health center.

My appointment started with a short meeting with a genetic counselor. She and I wrote out my family tree to get the full picture of my family health history. Note: I recommend talking to your family to get this information in advance! If you can, come to your appointment knowing the cancer history of your parents, their siblings and parents, and your own siblings and children. Extra credit if you know the age your family members got diagnosed with cancer or the age they died, if applicable. (I gained this wisdom after having to text my mom during the appointment.)

My genetic counselor explained what it would mean if I were to find a genetic mutation, including what my risk of different cancer types would be, but also how I could become eligible for screenings at an earlier age. My biggest worry was what it could mean for having children, since some people opt to do in vitro fertilization (IVF) so their kids don’t have the same genetic mutation. (For more on that, read Ali Rogan’s story.) Finally, we talked through insurance implications of testing positive for a genetic mutation.

Then, it was time to decide the type of test I’d do. I could test for just BRCA1, a handful of genes or a panel of over 80 genes. The downside to testing for so many genes is that they could find a mutation for which there are no screening options or treatments, which could make you more anxious instead of empowered. Regardless, I opted for “the more the merrier” option in case I could learn something as science improves. In my head, it’s better to know more, but this is a completely personal decision.

Blood test time. My genetic counselor confirmed I wanted this testing done (you can go to the counseling session and then decide to opt out if you change your mind) and then ordered the lab. I’ve gotten my blood drawn before; it’s never the most fun experience for me, but it always goes by quickly.

Then, the waiting. My genetic counselor set it up so I couldn’t view my results on my own—she would reveal them during a telehealth appointment two weeks later. This is so I wouldn’t have to deal with important news on my own. Either result, we were going to talk it through.

It was two weeks later and time for my appointment. I actually wasn’t very anxious—whether this is a helpful technique or not, I was assuming I had the BRCA1 mutation so I would either get good news or confirmation of what I already believed to be true. (Maybe try meditating or something instead?) My appointment was during the week of Christmas, so I was visiting my parents and knew I’d have family there to talk it through after I got my results. (Note that insurance may require you to be in the same state for a telehealth appointment, so look into that before traveling.)

I logged onto the call and immediately knew: Either this genetic counselor is being inappropriate right now, or I was getting good news. She was smiling! “This is going to be really quick,” she said, “but I have the best possible results for you.” I don’t have the BRCA1 mutation! Because they tested for 85 genes, it meant she found a mutation I wasn’t familiar with: I’m a carrier for biotinidase deficiency. That’s a cross-that-bridge-when-we-get-there issue that I’ll have to bring up with my doctor if I get pregnant. We did talk it through and my genetic counselor told me doctors could test for this during pregnancy, and not to worry.

I walked out of my appointment to tell my mom, who was anxiously waiting for my results. After I told her, we hugged and cried together. I didn’t realize until then that this lifted a weight off my chest.

But it doesn’t mean I’m completely off the hook. I’m grateful I don’t have the BRCA1 mutation, but I will still inform my health care providers that I’m at high-risk for breast and ovarian cancers due to my family history. I’ll also be talking to my health care provider about retesting in a few years in case new scientific findings change my results. It’s not always recommended, but if new genetic information emerges, it could be beneficial.

I’m also still doing my other routine screenings. I’m in my 20s, so that means getting a clinical breast exam at OB-GYN appointments, getting a Pap test every three years (you could also co-test with a high-risk HPV test every five years), visiting the dentist every six months for an oral cancer exam and going to the dermatologist annually for a skin check. I’m also up to date on my vaccines.

I wanted to help the field of cancer prevention and early detection, so I opted to send my results to the genetics platform I used. I provided written informed consent so the platform could use my results to better understand genetics. I hope I can help my family and my future kids, too. By sharing my story, I aim to help people understand the process of genetic testing. It’s a personal choice, but genetic testing empowered me to know more about my risk and check my health.

READ ALSO | The journey of Tracy Milgram: From previvor to founder of BRCAStrong