Screening & Gynecologic Cancer
BRCA Genetic Testing: Who Should Get Tested for Hereditary Cancer Risk
BRCA genetic testing looks for inherited changes (variants) in the BRCA1 and BRCA2 genes that sharply raise the risk of breast, ovarian and some other cancers. It's recommended if you have a personal or family history that points to hereditary cancer, a relative with a known variant, or Ashkenazi Jewish ancestry with a related family history. It usually starts with genetic counseling, then a blood or saliva sample.
Most people who ask about BRCA testing aren't asking about genes. They're asking, "My mom had breast cancer at 46. What does that mean for me, and for my daughter?" That's the right question, and it's exactly what counseling is for.
What BRCA1 and BRCA2 actually do
Everyone has BRCA1 and BRCA2 genes. Their normal job is repairing damaged DNA. A harmful variant (often called a mutation) stops the gene from working properly, which raises the risk of:
- Breast cancer, often at younger ages
- Ovarian, fallopian tube and primary peritoneal cancer
- Pancreatic cancer
- Prostate cancer and male breast cancer
- Melanoma (mainly BRCA2)
You can inherit a variant from either parent. People often forget the father's side. Your dad's sister with ovarian cancer counts just as much as your mom's. Each child of a carrier has a 50% chance of inheriting the variant.
How much higher is the risk?
According to the National Cancer Institute, people with a harmful BRCA1 or BRCA2 variant have a much higher lifetime risk than the general population:
| General population | BRCA1 carriers | BRCA2 carriers | |
|---|---|---|---|
| Breast cancer | About 13% | Roughly 55–72% | Roughly 45–69% |
| Ovarian cancer | About 1–2% | Roughly 39–44% | Roughly 11–17% |
These are estimates. Your own risk depends on the specific variant, your family history and other factors.
Do I qualify? A quick self-check
The USPSTF recommends that clinicians assess risk in people with a personal or family history of breast, ovarian, tubal or peritoneal cancer, or an ancestry linked to BRCA variants. If that assessment is positive, the next step is genetic counseling and, if appropriate, testing.
Bring this list to your next visit and check off anything that applies to you or a close relative:
- Breast cancer at 50 or younger
- Triple-negative breast cancer
- Breast cancer in both breasts
- Ovarian, fallopian tube or peritoneal cancer at any age
- Pancreatic cancer or metastatic prostate cancer
- Male breast cancer anywhere in the family
- Several relatives on the same side with breast, ovarian, pancreatic or prostate cancer
- A relative with a known BRCA or other cancer gene variant
- Ashkenazi Jewish ancestry plus any of the above
If nothing on that list fits, testing generally isn't recommended. A single grandmother with breast cancer at 80, for example, usually doesn't raise the flag on its own.
A practical tip: call an aunt or older cousin before your appointment. Ask what kind of cancer each relative had and roughly how old they were. "Some kind of female cancer" is a very common answer, and it's worth the phone call to find out if it was ovarian or uterine.
Why Ashkenazi ancestry comes up so often in New York
New York has one of the largest Ashkenazi Jewish communities in the world, including in Brooklyn, Rockland County and Long Island. About 1 in 40 Ashkenazi Jewish people carries one of three common "founder" BRCA variants, compared with roughly 1 in 400 in the general population. If you have this ancestry and any family history of breast, ovarian, pancreatic or prostate cancer, ask about counseling. Many NY OB/GYNs will bring it up themselves once they hear your background.
What genetic counseling is like
Counseling is a conversation, not an exam. It's often 45 minutes to an hour, in person or by video. A genetic counselor or trained clinician will:
- Draw a family tree going back at least three generations
- Estimate your chance of carrying a variant
- Explain which test to order. Many people now get a multigene panel that checks BRCA1, BRCA2 and other genes such as PALB2 and the Lynch syndrome genes.
- Talk through what a positive, negative or uncertain result would mean for you and your family
- Review cost, insurance and privacy
If a relative already has cancer, it's often best to test that relative first when possible. Their result makes everyone else's easier to read.
Genetic counseling and testing in New York is offered by gynecologic oncologists, cancer centers, breast surgeons and many OB/GYN practices. Some use telehealth counselors, which helps if you live farther out on Long Island or upstate in the Hudson Valley.
Reading your result
| Result | What it means |
|---|---|
| Positive (pathogenic variant) | You carry a harmful variant and have higher cancer risk |
| Negative, with a known family variant | You didn't inherit it; your risk is usually close to average |
| Negative, no known family variant | No variant found, but family history may still raise your risk |
| Variant of uncertain significance (VUS) | A change was found but its meaning is unclear; most are later reclassified as harmless |
A VUS should not drive surgery decisions. It's the result that confuses people most, so ask your counselor to explain it twice if you need to.
Results often take a few weeks, depending on the lab and the panel size. Ask how you'll get them. A follow-up visit beats a portal notification for news like this.
If you test positive
A positive result is not a cancer diagnosis. It's information, and it gives you time. Options include:
- Earlier breast screening, typically yearly breast MRI starting around 25 and mammograms starting around 30
- Risk-reducing medicines, which may lower breast cancer risk for some people
- Risk-reducing mastectomy, which greatly lowers breast cancer risk
- Risk-reducing salpingo-oophorectomy (removing the ovaries and fallopian tubes), usually recommended between about 35 and 40 for BRCA1 and 40 and 45 for BRCA2, once childbearing is complete
There's no reliable screening test for ovarian cancer, which is why surgery is advised. Removing the ovaries before menopause causes surgical menopause, so plan ahead with your team for symptom relief and bone and heart health. A gynecologic oncologist often performs or advises on this surgery.
Your relatives may want testing too. Many people find this the hardest part: deciding how to tell a sister or a grown son. Counselors often provide a family letter you can share.
Does insurance cover it in New York?
Most private plans, NY Medicaid and Medicare cover genetic counseling and BRCA testing for people who meet established criteria. The ACA requires coverage of BRCA counseling and, when appropriate, testing as a preventive service for eligible women without a personal cancer history. Rules vary, so ask your plan before the sample goes out.
The federal Genetic Information Nondiscrimination Act (GINA) bars health insurers and most employers from using genetic results against you. It does not protect life, disability or long-term care insurance. Some people choose to set up those policies before testing; ask your counselor about timing.
What about at-home DNA tests?
They aren't enough. Some consumer tests check only a few BRCA variants, mostly the Ashkenazi founder variants, and miss most of the thousands of possible harmful changes. A negative consumer result doesn't rule out hereditary risk. A positive one should be confirmed with clinical testing.
When to see a doctor
Ask your clinician for a hereditary cancer risk assessment or a genetic counseling referral if:
- You or a close relative had breast cancer at 50 or younger, or ovarian cancer at any age
- A relative tested positive for a BRCA or other cancer gene
- You have Ashkenazi Jewish ancestry and a family history of related cancers
- Several relatives had breast, ovarian, pancreatic, prostate or colon cancer
Some families carry Lynch syndrome instead of BRCA. Read our guide to Lynch syndrome in women. To find a gynecologist or gynecologic oncologist near you, start with Brooklyn gynecologic oncologists or search the directory.
Frequently asked questions
Who should get BRCA genetic testing?
Testing is generally recommended for people with a personal or strong family history of breast, ovarian, pancreatic or prostate cancer, a relative with a known BRCA variant, or Ashkenazi Jewish ancestry with a related family history. A clinician or genetic counselor can confirm whether you qualify.
What happens if I test positive for a BRCA mutation?
A positive result means your lifetime risk of certain cancers is higher. It is not a cancer diagnosis. Options include earlier and more frequent screening, medicines that lower risk, and risk-reducing surgery.
Is BRCA testing covered by insurance?
Most plans cover BRCA counseling and testing for people who meet guideline criteria. Coverage varies for people who don't, so check with your plan before the sample is sent.
Can genetic test results affect my insurance or job?
The federal Genetic Information Nondiscrimination Act protects against genetic discrimination in health insurance and most employment. It does not cover life, disability or long-term care insurance.
Should I take an at-home genetic test instead?
Some consumer tests check only a few BRCA variants and miss most others. A negative consumer result doesn't rule out hereditary risk, so talk to a clinician about clinical-grade testing.
Sources
- USPSTF — BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing (2019)
- National Cancer Institute — BRCA Gene Changes: Cancer Risk and Genetic Testing
- ACOG — Hereditary Breast and Ovarian Cancer Syndrome (Practice Bulletin 182)
- NCCN — Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate (Patient Guidelines)
- CDC — Hereditary Breast and Ovarian Cancer
This article is for general education and is not medical advice. It does not replace an evaluation by a licensed clinician who knows your history. If you think you have a medical emergency, call 911.