Ovarian Cancer: Understanding Genetic Testing

Up to 25% of ovarian cancer cases have an inherited genetic cause, according to the American Cancer Society. But there are a growing number of strategies to help prevent or speed up the detection of ovarian cancer in people who are at higher risk of the disease due to genetic causes, says Dr. Melissa Frey, a gynecologic oncologist at NewYork-Presbyterian/Weill Cornell Medical Center.

“Finding out someone is at increased risk through genetic testing gives people the opportunity to prevent ovarian cancer,” says Dr. Frey, who is also co-director of the Genetics and Personalized Cancer Prevention Program at Weill Cornell Medicine.

That’s important because there is no screening test for ovarian cancer, like mammograms for breast cancer or Pap tests for cervical cancer, which can catch cancer in its early, more treatable stages, says Dr. Frey. As a result, many ovarian cancer cases are diagnosed at advanced stages, when treatments are less effective.

For Ovarian Cancer Awareness Month, Health Matters spoke with Dr. Frey about who should consider getting genetic testing and how it can empower people at high-risk for ovarian cancer to make informed decisions about their health.

What inherited genetic causes increase one’s risk of getting ovarian cancer?
Dr. Frey: Up to a quarter of ovarian cancer cases are caused by inherited changes, known as mutations, in certain genes. The most common are BRCA1 and BRCA2 gene mutations, which cause most inherited ovarian cancers and also put people at higher risk for breast cancer.

In recent years, we’ve found other gene mutations that increase one’s risk for ovarian cancer, including genes associated with an inherited condition called Lynch syndrome. Lynch syndrome also increases the risk for colorectal cancer, endometrial cancer, and some other cancers.

Who should consider getting genetic testing?
Anyone who is diagnosed with ovarian cancer should get tested. In addition, the guidelines recommend that anyone who has a first- or second-degree relative — a parent, a grandparent, an aunt or uncle, a sibling or a child — with ovarian cancer should have genetic testing.

Having another hereditary cancer or a family history it — including breast cancer, pancreatic cancer, advanced prostate cancer, and colorectal cancer — should also prompt a physician to recommend genetic testing. But it depends on the number of cancers in the family and the age of cancer diagnosis.

What are the benefits of genetic testing?
First, it can help give someone who has been diagnosed with ovarian cancer insight into how and why this happened. Second, we now use these results to drive treatment. We have targeted treatments that we choose based on the genetics of the tumor.  

Testing is also very important for family awareness. If someone has a genetic mutation, their first-degree relatives have a 50% chance of carrying that same mutation. Genetic testing can help alert relatives to this risk and gives them the opportunity to help prevent ovarian cancer.

What should you do if you test positive for a genetic mutation linked to ovarian cancer?
People with these mutations should meet with a genetic specialist to get an individualized care plan that considers their personal and family history and the genetic mutation that was identified. If you have not been diagnosed with cancer, the specialist can guide you through the cancer prevention and screening modalities that are recommended.

How can those who test positive reduce their risk for ovarian cancer?
The most effective way to help prevent ovarian cancer is with surgical removal of the fallopian tubes and ovaries. At what age it’s recommended depends on factors that a genetic specialist will discuss with you, including your childbearing goals. (You can’t become pregnant naturally after the procedure.) Occasionally when I perform this surgery, I find cancer but fortunately it’s usually at an early stage. Another tool we can use to decrease the risk is birth control pills. Taking them can cut the risk of ovarian cancer in half, although there is a chance that it may increase the risk for breast cancer, so your doctor will discuss if it’s right for you.

How is genetic testing done?
Genetic testing is usually ordered by a clinician, such as your primary care doctor or your OB-GYN. It is a one-time, straightforward test that can be either a blood or a saliva test. People should feel empowered to ask their providers if they should get genetic testing.

How does the Genetics and Personalized Cancer Prevention Program manage patients’ risks?
This new program offers genetic screening and counseling as well as prevention and treatment strategies for those who carry a harmful gene mutation or who have a strong family history of cancer. The program was created to be a home for patients where they can receive long-term, multidisciplinary care and address all their needs, including access to different providers — gynecologic oncologists, gastroenterologists, breast surgeons, etc. We also have a full-time social worker to address patients’ psychosocial needs and to serve as a navigator for our patients.

How important is it to share a cancer diagnosis with family members?
It’s critical that people speak with their family members — even great grandparents and great uncles and aunts about their disease history. All of that information is incredibly helpful and can be lifesaving. There used to be a stigma around cancer, and people haven’t shared this information, especially about gynecologic cancer, with relatives. As a result, this information is often lost, and people in younger generations don’t have the opportunity to benefit from it.

How can genetic testing information empower women?
For a long time, there was a misconception that genetic testing was going to provide terrifying information that was fatalistic — ‘This is the cancer that you’re going to get, and there’s nothing you can do about it,’ — though that’s not the case. We now know that there are many things that people can take advantage of to modulate or even eliminate their risk. This information gives you the opportunity to prevent cancer or to catch it at its earliest stage. There’s nothing more empowering than that.