Finding out whether you carry a BRCA1 or BRCA2 mutation starts with a genetic test, which can be done through a blood sample, saliva sample, or cheek swab at a doctor’s office or genetics clinic. The process itself is simple, but deciding whether to test, choosing the right type of test, and understanding your results all involve meaningful steps worth knowing about beforehand.
Who Should Consider Testing
BRCA mutations are relatively rare in the general population, so testing is most useful for people with specific risk factors. A strong signal is family history: multiple relatives on the same side of the family diagnosed with breast or ovarian cancer, a family member diagnosed before age 50, a male relative with breast cancer, or a known BRCA mutation already identified in your family. Ashkenazi Jewish ancestry also raises the likelihood of carrying one of these mutations.
Insurance companies and genetic counselors use these kinds of criteria to determine whether testing is recommended. But you don’t need a dramatic family history to qualify. If you have a first-degree relative (parent, sibling, or child) who tested positive, you have a 50% chance of carrying the same mutation, and testing is strongly encouraged regardless of your personal cancer history.
What the Test Involves
The test itself is one of the easiest parts. A healthcare professional draws a small blood sample from your arm, which takes less than five minutes. Some labs offer a saliva test where you spit into a container, or a cheek swab using a soft brush on the inside of your cheek. All three sample types work for identifying BRCA mutations.
Results typically come back in three to six weeks, though the timeline varies by lab and healthcare system. Some clinics have streamlined the process to return results in about five weeks, while others, particularly in public healthcare systems, can take several months.
Clinical Testing vs. Home DNA Kits
Direct-to-consumer DNA kits like 23andMe do screen for a handful of BRCA mutations, but they miss nearly 90% of people who carry harmful variants. These kits only check for three specific mutations most common in people of Ashkenazi Jewish descent. There are thousands of known BRCA mutations, and a consumer kit won’t detect the vast majority of them.
A negative result from a home kit is essentially meaningless for ruling out BRCA risk. If you’re genuinely concerned about carrying a mutation, clinical-grade testing through a certified genetics lab is the only reliable option. These tests sequence the full BRCA1 and BRCA2 genes and catch the full range of harmful changes. If you’ve already used a consumer kit and it flagged something, that result also needs to be confirmed through clinical testing before any medical decisions are made.
What Results Look Like
Your results will fall into one of three categories: positive, negative, or a variant of uncertain significance (VUS).
- Positive means a harmful mutation was found in BRCA1, BRCA2, or both. This doesn’t mean you will develop cancer, but your lifetime risk is significantly elevated.
- Negative means no known harmful mutation was detected. If a specific mutation runs in your family and you test negative for it, that’s a true negative. If no family mutation is known, a negative result is less definitive since it’s possible you carry a mutation in a different gene that wasn’t tested.
- Variant of uncertain significance (VUS) means a genetic change was found, but there isn’t enough data yet to know whether it raises cancer risk. This is more common than most people expect. In studies of patients tested for hereditary cancer syndromes, roughly one in three received a VUS result. A VUS is not treated as a positive result, but it can feel unsettling. Over time, as more data accumulates, many VUS results get reclassified as either harmless or harmful.
What a Positive Result Means for Cancer Risk
More than 60% of women who carry a harmful BRCA1 or BRCA2 mutation will develop breast cancer in their lifetime, compared to about 13% of women in the general population. Ovarian cancer risk is also sharply elevated: 39% to 58% lifetime risk for BRCA1 carriers and 13% to 29% for BRCA2 carriers.
These mutations affect men too. Men with BRCA2 changes face a 19% to 61% chance of prostate cancer by age 80 and up to a 7% chance of male breast cancer by age 70. BRCA2 also raises pancreatic cancer risk to 5% to 10% over a lifetime for both sexes. BRCA1 carriers face up to 5% lifetime risk for pancreatic cancer and 7% to 26% for prostate cancer by age 80.
None of these numbers are a diagnosis. They represent elevated probabilities, and knowing your status opens the door to earlier screening, more frequent monitoring, and preventive options that can dramatically reduce your actual risk.
Why Genetic Counseling Matters
Meeting with a genetic counselor before and after testing makes a real difference. Before testing, a counselor reviews your family history, helps you understand what a result could mean for you and your relatives, and discusses whether you’re ready to act on whatever the test reveals. This matters because BRCA results have implications beyond your own health. If you test positive, your siblings and children each have a 50% chance of carrying the same mutation, and that information can be difficult to navigate within a family.
After testing, a counselor helps you interpret the results in context. A positive result opens conversations about enhanced screening schedules, risk-reducing medications, or preventive surgeries, and a counselor can walk through what each option actually involves. Some people feel empowered by knowing their status. Others find the knowledge burdensome. A good counselor helps you think through both possibilities before the test, not after.
Cost and Insurance Coverage
If you meet clinical criteria for testing, insurance typically covers most or all of the cost. Most insured patients pay between $0 and $250 out of pocket. Medicare covers testing for people with qualifying cancer histories, and most patients on traditional Medicare plans pay little to nothing.
If you don’t meet insurance criteria or prefer not to go through insurance, many genetic testing labs offer a self-pay rate of around $250. This has dropped substantially over the past decade as sequencing technology has become cheaper. Some labs also offer discounted or free testing for patients who don’t qualify for insurance coverage but still have risk factors.
Legal Protections for Getting Tested
A common concern is whether a positive result could be used against you. The Genetic Information Nondiscrimination Act (GINA) makes it illegal for employers to use genetic information in hiring, firing, pay, promotions, or any other employment decisions. Employers also cannot request, require, or purchase your genetic information, and they must keep any genetic data they do encounter confidential and in a separate file.
GINA also prevents health insurers from using genetic test results to deny coverage or raise premiums. One notable gap: GINA does not cover life insurance, disability insurance, or long-term care insurance. Some people choose to secure these policies before undergoing genetic testing for this reason.
How to Get Started
The most straightforward path is to talk to your primary care doctor about your family history. They can refer you to a genetic counselor, who will assess whether testing is appropriate and order the test through a certified lab. Many cancer centers also offer dedicated genetics clinics where you can self-refer. If cost is a concern, ask the lab directly about self-pay pricing before assuming you can’t afford it. The gap between list price and what patients actually pay is often significant.