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Are Genetic Tests for Cancer Worth It?

Cancer Care
Author name: Lee Health


Recent advances show that certain genes can put individuals at risk for cancer.

The two BRCA genes – BRCA1 and BRCA2 – typically help protect women from cancer. But some women experience a mutation of these genes that can lead to cancer.

We spoke with clinical nurse specialist Mary Ann Orlang, APRN, AOCNS is an advanced practice nurse in cancer risk assessment and hereditary cancer testing with the Regional Cancer Center, to learn more about genetic testing and if it’s an option for you.

New Recommendations

Breast cancer is the second-leading cause of cancer death (behind lung cancer) in women. The disease will strike about 1 in 8 U.S. women over the course of her lifetime, about 245,000 every year, according to American Cancer Society.

In 2019, the U.S. Preventive Services Task Force (USPSTF) updated its 2013 statement on risk assessment, genetic counseling, and genetic testing for BRCA-related cancers in women. The update was developed, in part, to address new mutations of the BRCA1 and BRCA2 genes that were discovered.

The new set of breast cancer screening recommendations help more women at risk for breast and/or other cancers by identifying these mutations through genetic testing.

“According to the task force report, potentially harmful mutations of BRCA 1 and BRCA2 are associated with increased risks not only for breast cancer, but ovarian, fallopian tube and peritoneal cancer as well,” Orlang says.

She says the task force’s previous recommendations highlighted women with a family history of breast, ovarian, fallopian tube, or peritoneal cancer. The 2019 updated recommendations added two more groups.

“The new groups are women who have a personal history of breast, ovarian, fallopian tube, or peritoneal cancer, and women with ancestry associated with breast cancer related to BRCA1 and BRCA2 gene mutations,” Orlang explains.

The numbers

According to the National Cancer Institute (NCI), about 13% of women in the general population will develop breast cancer at some point during their lives. If a woman inherits a harmful BRCA1 or BRCA2 mutation, her lifetime risk for developing breast and/or other cancer types increases to about 70 percent.

Now, exactly how the odds increase depends on many factors and the type of mutation, the NCI reports.

Orlang says while the information may seem alarming, it’s important to remember that gene mutations are only a small part of the breast cancer story. According to the National Breast Cancer Foundation, one in 400 people have a mutated BRCA 1 or BRCA 2 gene. 

“Less than 10 percent of women diagnosed with breast cancer have a BRCA mutation,” she says. “Also, the vast majority of breast cancer cases detected early can be successfully treated, even for people who have a BRCA1 or BRCA2 mutation.”

So, should you consider genetic counseling and testing for BRCA1 and BRCA2 mutations?

The task force found that some although women may benefit from testing for these uncommon genetic mutations, BRCA screening is not appropriate for all women.

You may not need to be tested, in other words.

Collect your family health history of breast, ovarian, and other cancers and share this information with your doctor.

You can inherit BRCA and other mutations from your mother or your father, so be sure to include information from both sides of your family, including close relatives: parents, sisters, brothers, children, grandparents, aunts, uncles, nieces, nephews, and grandchildren.

Be sure to tell your doctor if you have a personal or family health history of any of the following:

  • Breast cancer, especially at a younger age (age 50 or younger)
  • Triple-negative breast cancer at age 60 or younger in women (Triple-negative cancers are a type of breast cancer that lack estrogen receptors, progesterone receptors and human epidermal growth factor receptor 2.)
  • Cancer in both breasts
  • Breast cancer in a male relative
  • Ovarian, fallopian tube, or primary peritoneal cancer
  • Pancreatic cancer
  • Metastatic or high-grade prostate cancer
  • Breast, ovarian, pancreatic, or high-grade prostate cancer among multiple blood relatives
  • Ashkenazi or Eastern European Jewish ancestry
  • A known BRCA mutation in the family

Source: Centers for Disease Control and Prevention

If your doctor decides that your family health history increases your risk of getting certain cancers, you may be referred for genetic counseling.

“Genetic counseling involves education about BRCA-related cancers, the benefits and harms of genetic testing, how to interpret test results and options for prevention and care,” Orlang says. “Genetic blood tests are highly accurate for specific BRCA mutations but interpreting what those mutations mean in terms of your cancer risk can be complex. A genetic counselor can dive into your history and help you and your family understand the risks, provide information, and perform a screening.”

Orlang says that while genetic testing is a great tool for early intervention and managing increased risk, it doesn’t replace the importance of practicing healthy behaviors that can lower your risk factors for cancer.

“You can’t control your family health history, but you can help lower your risk of getting breast and other cancers by making healthy lifestyle choices,” she says. “The vital ones are keeping healthy weight, regular physical activity, no smoking, and getting regular mammograms.”

The Regional Cancer Center offers counseling for breast cancer, gynecological cancers, skin cancers, and many other conditions.

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