Breast cancer is the most common cancer among women, making up 30% of all new cases each year. When it comes to this disease, knowledge truly is power—and genetic testing could be the key to understanding your risk.
If you’ve ever considered whether genetic testing is right for you, you’re not alone. Thanks to advancements in science, more women are exploring this option to better understand their health.
But is it the right step for you?
Flow Space spoke with three experts to help unpack what genetic testing entails and how it can empower you to make informed decisions about your health.
Why would someone need to get genetic testing for breast cancer?
Genetic testing for women who already have breast cancer is a way to find out if their cancer is tied to inherited gene mutations, like BRCA1 or BRCA2. These mutations can increase the chances of developing breast and ovarian cancer and play a big role in shaping treatment options.
Unlike testing for women who haven’t been diagnosed, this type of genetic testing helps doctors understand if a genetic factor contributed to the cancer and can lead to more personalized treatments, like targeted therapies.
“Genetic testing can be very important and depends on several factors in terms of whether or not it’s recommended,” Dr. Yvette Williams-Brown, a gynecologic oncologist at UC Health Austin, said during a panel at the SHE Media Co-Lab at South by Southwest (SXSW) earlier this year in Austin, Texas. “Just because someone has breast cancer doesn’t automatically mean they have to get genetic testing.”
Williams-Brown said that depending on someone’s age, their personal family history and whether or not their cancer is recurrent are factors that doctors generally take into account when deciding to recommend genetic testing.
Genetic testing can also offer insight into whether preventive surgeries or other steps are needed to reduce the risk of future cancers. Plus, this information can be crucial for family members, as it helps them understand if they might carry the same gene mutations and should consider early screening or preventive measures.
“My mom died of breast cancer. I had breast cancer. I don’t know if she carried the BRCA gene mutation because they didn’t test her at the time,” Paula Schneider, president & CEO of Susan G. Komen, said during the same panel. “I think knowledge is power. As much information as you can have about your own medical background, your own health, then you can make these decisions.”
What are the limitations to genetic testing?
While genetic testing can offer valuable insights into your health, it has its limitations.
For starters, it can’t predict if or when you’ll develop a disease—only that you might be at an increased risk. Not all genetic mutations are detected, and sometimes results are unclear, leaving you with variants of unknown significance (VUS) that don’t provide a clear answer.
“In addition, there may be a financial cost associated with testing, though overall, insurance coverage has significantly improved,” Dr. Melissa D. Fana, NYU Langone Health’s director of women’s health for Suffolk County, tells Flow Space.
Fana goes on to say it’s also important to realize the ramifications of genetic testing on emotional and psychological well-being; it can be overwhelming information for many individuals to navigate, so it’s vital that patients have of a medical home that includes genetic counseling to providing testing and an accurate understanding of the information.
Genetic testing typically focuses on specific genes, meaning it doesn’t account for all the factors—like lifestyle or environment—that contribute to conditions like cancer. Despite these challenges, genetic testing can still be a powerful tool, when combined with other health information, to guide decisions about care.
How do the results of genetic testing impact treatment options and preventive measures for breast cancer?
The results of genetic testing can have a profound impact on treatment options and preventive measures for breast cancer. If mutations like BRCA1 or BRCA2 are detected, doctors can offer more personalized treatments, such as PARP inhibitors, which are particularly effective for these genetic profiles.
“If someone who was being treated for breast cancer was identified to carry a genetic mutation that significantly increases their risk of developing a secondary breast cancer, the surgical recommendation may be for bilateral mastectomy,” Fana says. “In addition, it is crucial to understand that an individual could also be at risk for ovarian cancer with BRCA1/2 mutations.”
Genetic testing can also influence screening strategies, with earlier and more frequent screenings recommended for those at higher risk. Additionally, the results may guide the use of hormonal therapies, such as tamoxifen, for estrogen receptor-positive cancers.
Beyond treatment, the information can affect family planning decisions and prompt increased surveillance for other cancers, like ovarian cancer, ensuring more comprehensive care.
How does breast cancer affect menopause?
Breast cancer can significantly affect menopause in various ways, depending on factors like age, treatment and the type of breast cancer.
For some women, breast cancer treatments can trigger early or sudden menopause. Chemotherapy, for example, may damage the ovaries, leading to premature ovarian failure and the onset of menopause. Hormonal therapies, such as tamoxifen or aromatase inhibitors, are often used to treat hormone receptor-positive breast cancers, and these medications can induce menopause-like symptoms or exacerbate them in women already in menopause.
“Breasts are less dense once we enter menopause and also the elasticity,” Williams-Brown explained at SXSW. “So we don’t have those perky breasts like we used to.”
Although dense breasts don’t directly lead to menopause, there is a connection between breast density and the changes that occur during menopause. Breast density refers to the amount of fibrous and glandular tissue in the breast compared to fatty tissue. Women with dense breasts have more glandular tissue, making mammograms harder to interpret and increasing breast cancer risk.
Breast cancer and its treatments can also intensify common menopausal symptoms like hot flashes, night sweats, vaginal dryness and mood changes. However, managing these symptoms is more complicated for women with breast cancer, as hormone replacement therapy (HRT)—a common treatment for menopause symptoms—may not be recommended due to the risk of hormone-sensitive cancer recurrence. As a result, women often need to explore non-hormonal treatments to alleviate menopausal symptoms.
Should you be nervous about genetic testing?
It’s natural to feel a bit nervous about genetic testing, but it’s important to remember that the goal is to provide you with more information and control over your health. Genetic testing can help you better understand your risk for certain conditions, like breast cancer, and allow you to make informed decisions about preventive care and treatment.
While some people worry about the emotional impact of learning they have a higher risk for a disease, knowing your genetic makeup can also bring peace of mind or open up proactive options to reduce your risk.
“If you have any family history or if you have the opportunity to get genetic testing, to me personally, I think it’s incredibly important,” Schneider added during the SXSW panel. “There’s only about 15% of breast cancers that are related to the BRCA gene mutation, the rest is random.”
It’s also worth considering that not all results will give clear answers—some may show uncertain or inconclusive findings, which can be frustrating. But genetic counselors are available to help explain the results and guide you through any next steps.
Ultimately, genetic testing is a tool that can empower you, but it’s OK to take your time, ask questions and weigh the benefits and limitations before deciding if it’s right for you.