Genetic testing for BRCA1 and BRCA2—the so-called “breast cancer genes”—has become more mainstream. But, confusion still surrounds who should get tested, what the results really mean and what happens if you test positive. While Angelina Jolie’s high-profile preventive mastectomy a decade ago put BRCA testing in the spotlight, experts say many people who should be tested still aren’t—and some who don’t need it are taking the test unnecessarily.
Featured Experts
- Dr. Payal Shah is a board-certified oncologist at Penn Medicine’s Abramson Cancer Center, Basser Center for BRCA
- Dr. Julie Gralow is a board-certified oncologist and executive vice president and chief medical officer at the American Society of Clinical Oncology
Who should consider testing?
The decision to test isn’t always straightforward. BRCA mutations increase the risk of breast, ovarian, prostate and pancreatic cancers, but the mutations don’t guarantee a diagnosis.
Radnor, PA oncologist Payal Shah, MD says testing should be considered for those with a strong family history of these types of cancer, particularly if diagnosed at a young age. People of Ashkenazi Jewish descent are also at higher risk, making testing especially relevant.
A common misconception is that BRCA testing only matters if cancer runs in the family. “About forty percent of people with BRCA mutations don’t have a known family history,” Shah explains. “Some families are small, or cancer may have been passed down through male relatives, making patterns less obvious.”
Alexandria, VA oncologist Julie Gralow, MD says personal cancer history is another important factor. “Those diagnosed with breast cancer before age forty-five, triple-negative breast cancer before sixty or ovarian cancer at any age are more likely to have a BRCA1 or BRCA2 mutation,” she says. “Men aren’t exempt either. Male breast cancer, prostate cancer and pancreatic cancer can all be linked to BRCA mutations.”
When BRCA Testing Isn’t Needed
While BRCA testing can be life-changing for those at high risk, it’s not necessary for everyone. Some people, concerned about their cancer risk, take the test without strong medical indications.
“Genetic testing should be targeted toward those with personal or family history risk factors,” says Dr. Julie Gralow. “If you don’t have a family history of breast, ovarian, pancreatic or prostate cancer—especially at younger ages—you likely don’t need BRCA testing. A negative test in someone with low risk doesn’t provide much additional information about their overall cancer risk.”
Dr. Payal Shah agrees that BRCA testing isn’t a universal recommendation. “For most people without a strong family history, standard cancer screenings like mammograms and lifestyle modifications are more important than genetic testing,” she says. “Genetic testing is a tool, but it needs to be used in the right context.”
What the Test Involves
The test is relatively simple—a blood or saliva sample is analyzed for BRCA mutations. It can be done through a genetics counselor, a doctor or direct-to-consumer services. “The key is knowing exactly what’s being tested,” says Shah. “Some at-home tests only check for the most common BRCA mutations, missing others that could still increase risk.”
Genetic counseling before testing can help clarify what the results mean, how they impact risk and what options exist if the test is positive.
Understanding Your Results
BRCA test results fall into three categories: positive, negative or variant of uncertain significance (VUS). A positive result means the person carries a BRCA mutation that increases their risk of cancer. A negative result means no BRCA mutation was found, but doesn’t rule out all cancer risks. A VUS means a genetic change was detected, but its significance is unclear. Most VUS cases eventually turn out to be harmless.
Finding out you have a BRCA mutation doesn’t mean you’ll develop cancer—it just means your risk is higher. Some people, like Jolie, choose preventive surgeries, such as a mastectomy to lower breast cancer risk by up to ninety-five percent or an oophorectomy to reduce ovarian cancer risk by ninety percent. Others opt for increased screening, starting mammograms and MRIs earlier or undergoing regular ovarian monitoring.
“There’s no one-size-fits-all answer,” says Shah. “Surgery is an option, but not a requirement. Some people feel most comfortable with aggressive prevention, while others prefer close monitoring. The important thing is knowing your options.”
Should your siblings get tested?
If one family member tests positive for a BRCA mutation, it’s critical that their siblings get tested too. Unlike some genetic conditions that can skip generations, BRCA mutations are inherited directly from a parent, meaning each sibling has a 50 percent chance of carrying the same mutation.
“The decision about testing other siblings depends on the initial sibling’s results,” says Dr. Julie Gralow. “If one tests positive, their brothers and sisters should strongly consider testing as well. Insurance is more likely to cover it when a known mutation is already present in the family.”
If a sibling tests negative for a known BRCA mutation in the family, that means they did not inherit the increased risk. However, if there’s no identified mutation and one sibling simply tests negative, it doesn’t always mean the whole family is in the clear. “Cancer risk can still be influenced by other genetic or environmental factors,” Gralow explains.
Common BRCA Testing Myths
Many people believe BRCA mutations only affect women, but men with BRCA mutations have an increased risk of prostate and pancreatic cancer and can pass the mutation to their children. Another misconception is that a negative test result means no cancer risk. “Everyone has some level of risk,” says Gralow. “A negative test doesn’t mean you’ll never develop cancer. Regular screening is still important.”
Concerns about cost and insurance coverage also deter some from getting tested. Most insurance plans cover the test if there’s a strong family history or medical need, with out-of-pocket costs ranging from zero to three hundred dollars. Without insurance, testing can cost several thousand dollars, but financial assistance programs may be available. “Genetic counselors can help document medical necessity and appeal insurance denials,” says Gralow. “It’s worth checking your coverage before assuming the test is out of reach.”
What Happens Next
Science is evolving and so are the options for those who test positive. Beyond surgery and early detection, new medications and lifestyle modifications are being studied as ways to reduce cancer risk. “While having a BRCA mutation significantly increases risk, there’s evidence that lifestyle choices like maintaining a healthy weight, limiting alcohol and regular exercise can play a role,” says Shah.
Genetic testing isn’t about fear—it’s about knowledge. Understanding BRCA status allows people to make informed choices about their health, whether that means early detection, preventive measures or simply peace of mind. “It’s not just about what the test says,” says Shah. “It’s about what you do with that information.”
