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What is BRCA testing?
BRCA testing is a genetic test—usually performed on a blood or saliva sample—that looks for inherited changes in the BRCA1 and BRCA2 genes linked to higher breast, ovarian, pancreatic, and prostate cancer risk.
It does not diagnose cancer. It helps estimate inherited susceptibility and may inform risk management for the person tested and their relatives. For gene function, inheritance, and cancer-risk ranges, start with what BRCA1 and BRCA2 do. [4,8,9]
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Who should consider BRCA testing?
As of September 2026, two guideline frames matter: the USPSTF's August 2019 Grade B recommendation and NCCN's more detailed Genetic/Familial High-Risk Assessment guideline, Version 1.2027.
USPSTF recommends brief risk assessment for women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer—or ancestry associated with harmful BRCA variants—and genetic counseling and testing when the assessment indicates increased likelihood. Its April 2024 research plan signals an update in progress; it is not a new final recommendation. NCCN criteria cover relevant histories in people of any sex. [1,2,3,10]
| Check your history | A testing discussion may be appropriate when… | Context |
|---|---|---|
| Personal cancer history | You have had breast cancer at a younger age; triple-negative breast cancer; ovarian, fallopian tube, or primary peritoneal cancer; pancreatic cancer; metastatic or high-grade prostate cancer; or male breast cancer. | Sources use different breast-cancer age thresholds. Some emphasize age 50 or younger; others include diagnoses through age 65 or triple-negative disease at any age. [1,4,6,7] |
| Family history | A first- or second-degree relative had one of these cancers—especially at a young age, in multiple relatives, or more than once—or a relative has a known BRCA1/2 pathogenic variant. | Exact family patterns and degree of relation matter. Bring both maternal and paternal history. [1,4,5,9] |
| Ancestry | You have Ashkenazi Jewish ancestry, even without a strong reported family history, or another ancestry associated with founder variants. | BRCA carrier frequency is often estimated at about 1 in 40 in Ashkenazi Jewish populations versus roughly 1 in 200 to 1 in 400 in the general population; sources differ, so these are not precise personal odds. [4,6,9] |
| Known family variant | A blood relative has a documented pathogenic or likely pathogenic BRCA1 or BRCA2 variant. | Testing for that exact familial variant can provide a clear true-negative or positive result. [5,8,9] |
| Under age 18 | Routine predictive BRCA testing is generally deferred until adulthood. | There is no established BRCA-related childhood intervention, so testing minors usually offers no immediate medical benefit. [4,9] |
This is a conversation aid, not an eligibility decision. Criteria can change, and a genetics professional may consider details not captured here.
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How BRCA testing is done
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Interpret the report in context
Results commonly take several weeks or longer. Timing varies by laboratory, test scope, insurance steps, and whether clarification or confirmation is needed. [5]
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What do BRCA test results mean?
Positive
A pathogenic or likely pathogenic variant was found. This indicates increased susceptibility, not cancer or certainty of developing it.
Negative
No reportable variant was found. It is a “true negative” only when a known familial variant was specifically absent; otherwise inherited risk may remain unexplained.
VUS
A variant of uncertain significance has unclear health meaning. It should not be treated as positive or used alone to guide risk-reducing care.
A positive result may support testing adult relatives for the same variant, sometimes called cascade testing. A genetics professional can explain who in the family may benefit and what a result can establish. [5,8,9,11]
Variant class matters
“BRCA testing” can describe tests with meaningfully different detection and reporting scopes.
Single-nucleotide variants change one DNA letter; small insertions or deletions add or remove a short sequence. Larger deletions, duplications, and other rearrangements may require different analytic methods. Before relying on any report, ask which variant classes were validated, what regions were adequately assessed, and whether reportable findings were confirmed by another method. [8,9,11]
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Common questions
Who should get BRCA testing?
Testing may be appropriate for adults with certain breast, ovarian, fallopian tube, peritoneal, pancreatic, prostate, or male breast cancer histories; a close relative with one of these cancers or a known familial variant; or ancestry associated with higher BRCA prevalence. [1,2,4,5]
What does a positive BRCA test mean?
A positive result means a pathogenic or likely pathogenic BRCA1 or BRCA2 variant was found. It indicates increased cancer susceptibility, not a cancer diagnosis or certainty that cancer will develop; management should be personalized with a qualified clinician. [4,8,9]
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Why whole-genome sequencing can be broader—and where it is not equivalent
A single-gene or small-panel test reports only on the genes ordered. HLI describes its $599 whole-genome service as providing a cancer-risk assessment that includes BRCA1 and BRCA2 among other genes, alongside cardiovascular, pharmacogenomic, and other findings from one purchase.
That breadth is not the same as meeting the clinically indicated BRCA-testing pathway described above. A person with a strong personal or family history should not use a consumer report—whole-genome, panel, or fixed-variant—as a substitute for genetic counseling and an appropriately selected clinical test. [1,2,5,8]
The unresolved details are clinically important.
HLI has not published which BRCA1/2 variant classes its $599 report validates, whether reportable findings are confirmed by an orthogonal method before release, or whether genetic counseling is included. A negative WGS report therefore should not be treated as a negative clinical diagnostic result. Ask for the current test scope and confirmation policy before using a finding in medical care.
Explore the service scope
Review the current inclusions and discuss clinical testing separately when your history warrants it.
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References and review notes
Sources and guideline status were reviewed September 27, 2026. Because USPSTF has an update in progress, this page should be reviewed at least every six months and when a final recommendation is released.
- 01National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate, Version 1.2027.
- 02Owens DK, et al. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: USPSTF Recommendation Statement. JAMA. 2019;322(7):652–665. PMID 31429903.
- 03U.S. Preventive Services Task Force. BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing. Final recommendation, August 2019.
- 04National Cancer Institute. BRCA Gene Changes: Cancer Risk and Genetic Testing. Reviewed July 19, 2024.
- 05Centers for Disease Control and Prevention. Genetic Testing for Hereditary Breast and Ovarian Cancer. Updated August 27, 2024.
- 06Basser Center for BRCA. Genetic Testing & Counseling.
- 07Mayo Clinic. BRCA gene test for breast and ovarian cancer risk.
- 08National Cancer Institute. Genetic Testing for Inherited Cancer Risk.
- 09GeneReviews. BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer.
- 10U.S. Preventive Services Task Force. BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing — Research Plan. April 25, 2024.
- 11Richards S, et al. Standards and guidelines for the interpretation of sequence variants. Genetics in Medicine. 2015;17:405–424.
- 12U.S. Food and Drug Administration. Direct-to-Consumer Tests.