Genetic Testing For Breast Cancer: Your Path To Empowered Health

Genetic testing has changed the field of healthcare. It offers personalized insights into your genetic makeup and potential risk for developing diseases like breast cancer. Today, about 264,000 women and 2,400 men in the United States are diagnosed with breast cancer each year. Genetic testing can tell you if you’re at an increased risk, and this information can empower you to make better-informed healthcare decisions.

“Some of the genes associated with breast cancer are the same as those associated with ovarian cancer,” said Erika Rager, MD, a general surgeon with Franciscan Physician Network Breast and Melanoma Specialists, Indianapolis. “Other genes are associated with prostate and pancreatic cancer or melanoma.”

What Is Genetic Testing?

Cancer can be passed from parents to children through shared DNA, making families more susceptible to illnesses like breast and ovarian cancer.

“You inherit genes from both your mom and your dad,” said Dr. Rager. “Many women with breast cancer think the mom’s side is the only one that counts, and that’s not true. We’re just as interested in inherited cancers from the dad’s side.”

“What we have learned within the last couple of years is that anyone with a first-degree relative (that is, a parent, sibling or child) who had pancreatic cancer, has a high risk of carrying an inherited genetic mutation,” said Dr. Rager. “If you fall into that category, you should have genetic testing.”

“We’re recommending genetic testing more frequently,” says Morgan Dally, board-certified genetics manager with the Hereditary Cancer Program at Franciscan Health. “Knowing about an increased risk can help you be proactive about your health, develop prevention strategies and give you an opportunity to share that valuable information with your family.”

What Is The BRCA Gene?

Every person has a BRCA1 and BRCA2 gene, the two genes most associated with inherited breast cancer. When these genes work correctly, they help prevent cancer by repairing damaged cells and suppressing tumors. But specific changes (mutations) to these genes can impact their function. If you carry these mutations, you have a significantly higher risk, up to 85 percent, for developing breast and ovarian cancers compared to the general population.

The United States Preventive Services Task Force (USPSTF) recommends that primary care providers screen patients for a family history of breast and ovarian cancer. And if you meet any of the following criteria, it’s a good idea to talk with a genetic counselor.

• Female relative with breast cancer before the age of 50
• First-degree relative with breast or ovarian cancer
• Male family member with breast cancer
• You or a relative with bilateral breast cancer
• Two or more family members with breast, ovarian or bowel cancer
• Ashkenazi Jewish ethnicity

The USPSTF also recommends genetic testing for women with a personal or family history of breast, ovarian, tubal or peritoneal cancer.

What Are The Benefits Of Testing?

Genetic testing can provide information you need to take steps to prevent cancer. Based on the results, you may need earlier or more frequent, targeted screening or preventive surgery. The results can also suggest you make lifestyle changes like quitting smoking, exercising more, reducing alcohol intake and maintaining a healthy weight. Genetic testing also offers valuable information for family members who want to take preventive measures, potentially reducing their risk.

Are At-Home Genetic Testing Kits Accurate?

While the convenience of at-home test kits may seem appealing, it’s important to consider their accuracy and reliability. These tests usually require collecting a saliva sample at home and sending it to a laboratory for analysis. However, the accuracy and interpretation of the results can vary.

Also, many at-home genetic test kits may not provide a complete analysis of all potential mutations in the gene mutations. They may only focus on a limited number of mutations, potentially missing other significant variants.

What Is Genetic Counseling?

Genetic counseling provides information, support and guidance on genetic conditions, inherited patterns and how genetic testing might be appropriate for you. Genetic counselors have training in medical genetics, counseling and genetic conditions. They work closely with you to assess your personal and family medical history, evaluate your genetic risks and explain the benefits and limitations of testing. Genetic counselors will:

• Ask detailed questions about personal and family health histories to determine if you have a likelihood (or predisposition) of a genetic condition.
• Explain how disease is inherited, the biology of genetic conditions and the role genes play in disease development.
• Evaluate your risk for a genetic condition and talk with you about testing, outcomes and the impact of testing.
• Help interpret the results if testing occurs.
• Provide guidance about preventive efforts, support resources and help develop personalized plans to reduce your risk.

Does A Negative Result Mean I Won’t Get Breast Cancer?

Unfortunately, no. Studies suggest the two BRCA genes account for only 40 to 50 percent of hereditary breast cancer. That means the current test doesn’t see other cancer-related genes. And about 70 percent of women who develop breast cancer don’t have any known relatives with the disease. Most cancers develop because of mutations acquired during your lifetime.

What Can I Do If My Genetic Test Is Positive?

A genetic counselor can help guide your next steps and treatment options. Increasing your vigilance could help too. Talk to your provider about how often you should get screened. Your provider might also suggest taking medicine, like tamoxifen, which has decreased breast cancer incidence by half in clinical trials. However, the tamoxifen doesn’t prevent most breast cancers associated with BRCA 1 mutations.

Genetic testing, specifically BRCA gene testing, offers valuable insights into your breast cancer risk and empowers you to make informed decisions about your health. It provides an opportunity to take charge of your future proactively. Talk to your provider about your risk and the cancer genetic testing program at Franciscan Health.