What You Need to Know About Genetic Testing and Ovarian Cancer

One year + two months: No Evidence of Disease (NED)

This post has been created in partnership with AstraZeneca. Links will take you to a third-party website not maintained, sponsored, or reviewed by AstraZeneca.

When I first received my cancer diagnosis, I was blindsided. Blindsided by the results of the CT scan Urgent Care sent me for that morning after only one week of having experienced noticeable symptoms. Blindsided when the results showed multiple markers of ovarian cancer and the Urgent Care doctor sent me directly to the ER for a full work-up. Blindsided when I was then hospitalized for a week and diagnosed with advanced ovarian cancer—late-Stage 3.

There was no history of women having cancer in my family, nor of any relatives being diagnosed with ovarian cancer (or so I thought), so I truly did not see this coming. As someone with longtime anxiety, I worry about a lot. But I did not worry about getting cancer; I did not think I was in any way at risk and it never really crossed my mind.

But then, my life changed overnight: I went from being a healthy 43-year-old with a stomachache and bloating, to a cancer patient undergoing treatment.

Even though there was no history of cancer in my immediate family, and no known history of any cancer in women in my extended family, my oncologist ordered genetic testing for me. The median age for an ovarian cancer diagnosis is 63, and the average age of my doctor’s ovarian cancer patients is around late 50s to early 60s. At 43, I was young for this diagnosis, which was an indication to my doctor that I may have some kind of genetic predisposition. He later told me that all his ovarian cancer patients get genetic testing regardless of age. But, according to my oncologist, someone like myself who was younger than the average-age patient is, he noted, “more suspicious to be harboring a genetic mutation.”

So, about six weeks after my diagnosis, I had genetic testing done at the hospital where I was being treated. (In my case, since I was being tested for an inherited mutation, this was a simple blood test, but it can also be done by taking a saliva sample.) Sitting in a coffee shop right before the holidays, I got a call from my oncologist with the results: I was BRCA1-positive. Cancer did run in my family.

My doctor explained the implications behind my test results: Being BRCA-positive made me a good candidate for a certain targeted treatment option (also referred to as biomarker-driven or -directed therapies) based on my specific type of disease. He also recommended that my family get tested. The BRCA mutation doesn’t skip a generation, so if I had it, it had to have come from one of my parents.

Ovarian Cancer and Mutations—Including BRCA
Ovarian cancer is known as the “silent killer” with symptoms that “whisper.” Because ovarian cancer symptoms, like abdominal pain and bloating, are so vague and nonspecific, they are easy to miss, brush off as not significant, or attribute to something a lot less serious. This is in large part why ovarian cancer is typically not detected until it’s already progressed to the later stages.

BRCA mutations are linked to increased risk for a few types of cancer, but in particular, one of the significant risks for women with a BRCA mutation is developing ovarian cancer. The statistics for ovarian cancer risk for women with a BRCA mutation are alarming. Only about 1.2% of women in the general population will develop ovarian cancer in their lifetime, but 39%-44% of women with a BRCA1 mutation and 11%–17% of women with a BRCA2 mutation will develop ovarian cancer by 70-80 years of age.

There are so many advances and breakthroughs happening right now in cancer research and treatment, something I was able to benefit from specifically because of my BRCA1 status. If you are newly diagnosed with advanced ovarian cancer, getting a test that identifies inherited or acquired gene mutations or other biomarkers could help guide your treatment plan and give you more and different options—particularly if it turns out that you have a BRCA or other harmful genetic mutation that could respond to targeted treatment.

Beyond BRCA, another important biomarker is homologous recombination deficiency (HRD), which impairs cells’ ability to repair breaks in the structure of DNA. About 50% of advanced ovarian cancers are HRD-positive, which may be caused by mutations in either the BRCA genes or other changes in the tumor’s DNA. Testing for HRD can also help guide treatment decisions and determine if you may be eligible for certain options.

Getting ready to leave the hospital after my ovarian cancer debulking surgery

Here’s what you need to know if you’ve been diagnosed with advanced ovarian cancer:

• Talk to your doctor about biomarker and genetic testing. A biomarker test for HRD can detect changes in the tumor’s DNA that affect various cancer behaviors, while a genetic test examines specific genes in your DNA and may help to identify the potential risk of developing certain cancers and other diseases. Try to talk to your doctor about this as soon as possible after your diagnosis.

• The genetic test should be a clinical, FDA-approved genetic test that’s administered in a medical setting versus an at-home, mail-order, direct-to-consumer ancestry/DNA test. Direct-to-consumer genetic tests aren’t necessarily going to give you the full picture and provide all the information you need to make informed medical decisions. According to the CDC, direct-to-consumer genetic tests “cannot definitely determine whether or not you will get a disease and should not be used alone for decisions about your treatment or medical care.” A biomarker test for HRD must be conducted by a doctor as well.

• When you get the results from your test, review them with your oncologist, and ask if there’s a genetic counselor at the hospital system where you’re being treated that you can schedule an appointment with. You could also find a genetic counselor on the National Society of Genetic Counselors website. Genetic counselors have the specific training and expertise necessary to talk you through your results and explain them to you. After getting my genetic test results from my gynecologic oncologist, I also scheduled an appointment with a genetic counselor at the hospital. In my experience, genetic counselors can give you a big-picture view. For instance, my gynecologic oncologist was focused on treating my ovarian cancer and how my BRCA status pertained to that. Meanwhile, the genetic counselor brought up other risks associated with a BRCA1 mutation and recommended other specialists I should speak with and cancer screenings I should consider. Lastly, a genetic counselor may help you diagram a family tree pertaining to cancer history and give you guidance about which family members need to be tested, too.

• When you review the results of your test with your oncologist, make sure you understand what they mean, and what the implications are for your treatment options. This is one of my favorite tricks as a journalist who’s interviewed doctors and researchers and has had to translate complex scientific or medical concepts in order to make them understandable for a general audience: When a doctor says something you don’t understand, ask them, “Can you say that in layperson’s terms?” And keep asking questions and for clarification until you understand what they’re saying. This is your life and it’s important that you fully understand your medical information and treatment options so you can make the most informed decisions possible!

• Some questions to ask your doctor include:

  • Does this test result affect my treatment?

  • Does it make me eligible for any targeted (or biomarker-driven) therapies?

  • If so, can you review the options and explain them to me?

My first birthday after completing active treatment for ovarian cancer

You Are Your Own Best Advocate
During the process of getting my genetic testing done, I had to ask around in my family and pull together a family medical history as it pertained to cancer. As it turned out, there were women in my family who’d died of cancer—it was just a generation back in my grandparents’ generation, and it was relatives whom I’d never met or even heard of because they’d died long before I was born.

Before my cancer diagnosis, I wasn’t a very informed or proactive patient. At times, I let years lapse between annual checkups, either because I was busy, or one of my practitioners no longer accepted my insurance, or, mostly, because I was young and healthy and not medically high-risk in any way that I knew, so it didn’t really seem like a big deal. Through the years, there were many things I didn’t understand and was unclear about when it came to my healthcare. For instance, prior to my cancer diagnosis, I was fuzzy on the details of why certain tests were ordered and what their resolutions were, and why no further action or treatment was needed at those times.

Once I was diagnosed with cancer, that all changed in an instant. I stay on top of all my checkups, screenings, and surveillance, and schedule them at the prescribed times. I prepare ahead of time for every doctor appointment, writing out a list of questions in advance so I don’t forget them in the moment, and furiously jot down notes during appointments. In fact, my gynecologic oncologist now knows to be prepared for a long list of questions at the end of all my exams. Now that I’m done with active treatment and in remission, being informed about my healthcare and keeping current on my medical appointments still remains a top priority for me.

Life is so busy and stressful, and it’s easy to deprioritize your health until it’s so far down on your to-do list that it falls off entirely. But what I learned during cancer treatment is this: You are precious. You are the most important thing in your life. Your health and well-being matter more than anything on your to-do list.

If you’re newly diagnosed with advanced ovarian cancer, be proactive and informed about your care. One thing you can do right away, that requires very little effort, is to ask your doctor about biomarker and genetic testing and if it’s right for you. It could give you more options for your treatment. And one of those options could be the one that prolongs—or saves—your life.

For more information about hereditary cancer, genetic cancer risk, and genetic testing, visit Cancer.gov. More resources on tumor testing are available at Cancer.net.

This post was sponsored by AstraZeneca. I received some materials and information from AstraZeneca. All opinions are my own.