Who Should Get Genetic Testing For Breast Cancer? Oncologist Explains

Jill Martin is taking a cause close to her heart to “Football Night in America.” Ahead of the Bengals-Giants game on Sunday, Oct. 13, Jill joined the program to discuss her history with breast cancer and urge viewers to consider genetic testing if they’re high risk — a step that Jill took, which she believes saved her life.

Last year, Jill was diagnosed with Stage 2 breast cancer. She received her diagnosis after genetic testing revealed she carries a mutation to one of her BRCA genes. Jill received a clear mammogram the day of her diagnosis and a clear sonogram a few months before that. Her cancer was only discovered during an MRI when she went in to get preventive surgery that was scheduled after finding out about her BRCA mutation.

An estimated 25 million people worldwide have a BRCA mutation, but only 10% of them are aware, according to the Basser Center for BRCA. Having a BRCA mutation increases a person’s lifetime risk of developing breast cancer by up to 75%. It also increases the risk of ovarian, prostate and pancreatic cancers by up to 50%, 25% and 5% respectively.

Knowing whether you have a gene mutation that increases your risk of breast cancer can help you decide whether to take preventive measures, guide your treatment should you get breast cancer, and inform other family members about their risk.

Who should get genetic testing for breast cancer?

According to Dr. Susan Domchek, executive director of the Basser Center for BRCA, people who have a personal or family history — especially in first- or second-degree family members (parents, siblings, grandparents, aunts, uncles, nieces, nephews) — of the following should consider genetic testing for breast cancer:

• Early on-set breast cancer (breast cancer that develops before age 50-65)
• Ovarian cancer
• Pancreatic cancer
• Metastatic breast cancer (meaning it spread to another organ or lymph nodes far from the breast)
• Ashkenazi Jewish descent (1 in 40 have a BRCA mutation compared to 1 in 200-300 for the general population)

Anyone with “just a lot of cancer in their family” should also talk to a health care provider about whether genetic testing is right for them, Domchek tells TODAY.com.

These recommendations apply to both men and women, Domchek adds. A BRCA mutation in men can increase their risk of developing breast cancer (though to a lesser degree than in women), as well as prostate cancer (especially at a younger age), pancreatic cancer and melanoma.

How to get genetic testing for breast cancer

There are multiple ways to undergo genetic testing, Domchek says, but ideally, you should go through the process under the guidance of health care provider, who can help you decide what to get tested for and interpret your results.

To start, you can ask your primary care provider about genetic testing, or you can seek out a genetic counselor directly. Domcheck recommends checking the National Cancer Institute’s list of designated cancer centers, which all have genetic counselors. You can also find a genetic counselor near you through the National Society for Genetic Counselor’s database.

Many insurance companies cover genetic testing when recommended by a health care provider. Contact your insurance company to find out more about your specific policy.

Thanks to genetic testing, Jill found out that she carries the BRCA mutation on her father’s side, even though her family history of breast cancer was all on her mother’s. Jill had to undergo treatment for her cancer — including a double mastectomy, removal of her ovaries and fallopian tubes, radiation and chemotherapy. She’s currently taking two medications to reduce her risk of recurrence.

Jill hopes that by raising awareness of genetic testing, she can help other people discover if they have gene mutations and take steps to reduce their risk of developing cancer.

“If I hadn’t found (my BRCA mutation) and gone in for preventive surgery, I wouldn’t be here today,” Jill said.