BRCA Testing: What to Know Before Ordering

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What BRCA testing checks

BRCA testing is a form of inherited, or germline, genetic testing. It looks for pathogenic or likely pathogenic variants in the BRCA1 and BRCA2 genes—two genes involved in repairing damaged DNA. When one copy of one of these genes is inherited with a harmful variant, a person’s lifetime risk for certain cancers can be higher than average. The National Cancer Institute explains that harmful BRCA changes are linked most strongly with breast and ovarian cancers, but they can also be associated with pancreatic cancer, prostate cancer, and other cancers in some families; see the NCI’s BRCA gene changes fact sheet.

Most people who are tested do not have a harmful BRCA variant. That is one reason the decision to test should start with context: your personal cancer history, your relatives’ cancer diagnoses, ages at diagnosis, ancestry, and whether anyone in the family already has a known mutation. BRCA testing is not a general cancer screening test and it does not tell whether you currently have cancer.

BRCA testing may be ordered as a focused BRCA1/BRCA2 test or as part of a broader hereditary cancer panel that includes other genes such as PALB2, CHEK2, ATM, TP53, CDH1, RAD51C, RAD51D, and genes related to Lynch syndrome, depending on the clinical situation. A broader panel can be helpful when the family history does not point clearly to BRCA alone, but it can also increase the chance of finding a variant of uncertain significance. A genetics professional can help choose the panel that fits the question you are trying to answer.

Who should consider BRCA testing?

BRCA testing is most useful when the chance of finding an actionable hereditary cancer variant is high enough that the result could change medical care. The U.S. Preventive Services Task Force recommends that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer—or ancestry associated with BRCA1/2 mutations—using an appropriate familial risk assessment tool, followed by genetic counseling and testing when indicated. The same recommendation advises against routine BRCA risk assessment and testing when personal history, family history, or ancestry is not associated with potentially harmful BRCA variants; see the USPSTF recommendation.

Common reasons to ask a clinician or genetic counselor about BRCA testing include:

• A known BRCA1 or BRCA2 pathogenic variant in a blood relative.
• Ovarian, fallopian tube, or primary peritoneal cancer at any age.
• Breast cancer diagnosed at a young age, especially before age 50.
• Triple-negative breast cancer, particularly when diagnosed before age 60.
• Male breast cancer.
• Multiple breast cancers in the same person, or breast cancer in both breasts.
• Pancreatic cancer or certain prostate cancer patterns, especially with family history.
• Multiple close relatives on the same side of the family with breast, ovarian, pancreatic, or prostate cancer.
• Ashkenazi Jewish ancestry or another ancestry group with known founder variants, especially when paired with a relevant personal or family history.

The CDC’s hereditary breast and ovarian cancer resources emphasize that testing decisions are usually based on personal and family history, ancestry, and whether a family mutation is already known; see CDC guidance on genetic testing for hereditary breast and ovarian cancer. Importantly, risk can come from either side of the family. A paternal family history of breast, ovarian, pancreatic, or prostate cancer matters just as much as a maternal history.

Clinical BRCA testing vs. at-home consumer testing

People often hear about BRCA testing through at-home DNA products. These can increase awareness, but they are not all designed for the same purpose. Clinical BRCA testing is intended to support medical decisions and is typically ordered by a licensed clinician or genetics service. It should use a laboratory process appropriate for medical testing, provide a formal report, and include a plan for interpreting and acting on results.

By contrast, some direct-to-consumer genetic health reports look only for selected BRCA variants. The FDA notes that the authorized direct-to-consumer BRCA1/BRCA2 selected-variants report is for three variants that are most common among people of Ashkenazi Jewish descent and is not the same as comprehensive BRCA testing; see the FDA’s direct-to-consumer test information. The NCI also cautions that, as of its BRCA testing fact sheet, the only FDA-approved direct-to-consumer inherited cancer risk test covered three specific BRCA variants. A negative result from a limited consumer report should not be used to rule out hereditary cancer risk.

Testing route	What it may include	Best use	Main limitation
Clinical BRCA1/BRCA2 test	Sequencing plus methods to detect larger deletions or duplications, depending on the lab	When family history points strongly to BRCA or a known BRCA variant is being checked	May miss hereditary risk from non-BRCA genes if ordered too narrowly
Clinical hereditary cancer panel	BRCA1/BRCA2 plus other cancer-risk genes	When the cancer pattern could involve several genes or when panel testing is guideline-supported	Higher chance of uncertain findings; requires careful interpretation
Limited direct-to-consumer BRCA report	Selected variants only	Awareness or a prompt to seek clinical follow-up	Not comprehensive; a negative result does not rule out BRCA or hereditary cancer risk
Tumor genomic testing	Genetic changes found in a cancer tumor sample	Guiding cancer treatment in someone already diagnosed	Not a substitute for germline testing unless paired with appropriate inherited-risk evaluation

How the test is collected and processed

Most clinical BRCA tests use a blood sample or saliva sample. Some use a cheek swab. Collection requirements vary by lab, but preparation is usually simple: follow kit instructions, avoid eating or drinking before saliva collection if instructed, label the specimen carefully, and return it promptly. If you recently had a blood transfusion, stem cell transplant, or certain hematologic conditions, tell the ordering clinician because special collection considerations may apply.

Turnaround time depends on the lab and the clinical urgency. Some focused tests ordered for active cancer treatment decisions may be processed faster than broad panels. For example, some clinical laboratories publish rapid turnaround times for certain breast cancer STAT panels, while broader panels can take longer. If surgery, chemotherapy, or targeted therapy decisions are waiting on results, ask the ordering clinician whether expedited testing is appropriate.

How to interpret BRCA test results

BRCA results can feel more definitive than they really are. The result is important, but its meaning depends on your reason for testing, family history, and whether a specific familial variant is already known. MedlinePlus summarizes common result categories for BRCA testing, including positive, negative, and uncertain results; see MedlinePlus BRCA test information.

Result category	What it means	What usually happens next
Positive / pathogenic or likely pathogenic variant	A harmful or probably harmful inherited BRCA1 or BRCA2 variant was found.	Discuss risk-management options, cancer screening changes, risk-reducing medication or surgery when appropriate, and testing for relatives.
True negative	You do not have the specific familial BRCA variant already found in your family.	Your inherited risk from that familial variant is usually not elevated; screening still depends on general risk factors and family history.
Uninformative negative	No harmful BRCA variant was found, but no known family variant was available for comparison or the family pattern remains unexplained.	Risk may still be above average; consider whether an affected relative should be tested or whether a broader panel is appropriate.
Variant of uncertain significance (VUS)	A DNA change was found, but evidence is not enough to label it harmful or benign.	Medical decisions are generally based on personal and family history, not the VUS alone; the lab may reclassify it later.

A positive BRCA result is not a cancer diagnosis. It means a person inherited a variant associated with increased risk. Depending on the gene, sex assigned at birth, organs present, age, and family history, a care team may discuss earlier or more frequent breast screening, breast MRI, mammography timing, risk-reducing medications, risk-reducing mastectomy, removal of fallopian tubes and ovaries at an appropriate age, pancreatic screening in selected families, prostate cancer screening considerations, and cascade testing for relatives. Those decisions are personal and medically complex; they should be made with clinicians who understand hereditary cancer risk.

A negative result is also not always the end of the story. If your mother has a known BRCA2 pathogenic variant and your clinical test shows you do not have that exact variant, that is a true negative for the family variant. But if several relatives had early breast or ovarian cancer and no affected relative has been tested, your negative result may be less informative. The family could have a variant in another gene, a BRCA variant not detected by a limited test, or a cancer pattern that is not explained by a single inherited variant.

A VUS is common enough that it deserves special caution. A VUS should not be treated as a positive result. It also should not be used by relatives as the basis for predictive testing unless a genetics professional later determines it has been reclassified. If you receive a VUS, ask how the lab handles reclassification, who will notify you, and whether your ordering clinic has a process for periodic review.

Why genetic counseling matters

Genetic counseling is not just a formality before BRCA testing. It helps answer three practical questions: Is this the right test? What could the results mean for you and your relatives? What actions would be reasonable after each possible result? The CDC describes genetic counseling as a process that reviews your family history, explains testing options, and helps you understand benefits, risks, and limitations; see CDC genetic counseling guidance.

Pre-test counseling is especially valuable if you are unaffected by cancer, if no affected relative has been tested, if you are considering a broad panel, if you have limited family history because of adoption or small family size, or if you are worried about privacy and insurance implications. Post-test counseling is equally important because the same result can mean different things in different families.

BRCA testing cost: compare the effective total cost, not just the test price

The cost of BRCA testing varies by ordering route, insurance coverage, lab, panel size, and whether counseling or clinician review is included. For people who meet medical criteria, insurance may cover testing, but deductibles, coinsurance, prior authorization, and in-network rules can still affect the final bill. For self-pay testing, some clinical hereditary cancer panels publish prices in the low hundreds of dollars, but the “test price” may not include every required fee.

For example, Color has published hereditary cancer testing information describing a self-pay price of $249 plus U.S. shipping and handling in its billing materials, and its support materials describe family testing for certain eligible first-degree relatives at $199 plus shipping and handling; see Color’s family testing information. Labcorp/Invitae’s published program information lists a patient-pay price of $250 for an Invitae Cancer Genetic Risk Panel; see Invitae and Labcorp billing program information. These examples are not a ranking and are not a complete marketplace comparison; they show why consumers should verify the current effective total cost before ordering.

Cost component	Questions to ask before ordering
Test price	Is this a fixed self-pay price, an insurance-billed price, or only an estimate?
Provider order	Is a clinician order included, or will my own clinician bill a visit separately?
Genetic counseling	Is pre-test or post-test counseling included? If not, what does it cost?
Sample collection	Is blood draw, saliva kit, cheek swab, or shipping included?
Insurance processing	Will the lab check benefits, obtain prior authorization, or notify me before billing above a threshold?
Family testing	If I test positive, is discounted targeted testing available for relatives?
Follow-up care	Will risk-management visits, imaging, procedures, or specialist referrals be billed separately?

If you are comparing options, compare like with like. A $250 panel that includes clinician authorization and post-test genetic counseling is not the same as a $250 lab-only test that requires separate visits. An insurance-billed test may appear covered but still produce out-of-pocket costs if your deductible has not been met. A low-cost limited variant screen may be less expensive upfront but may not answer the clinical question.

What to ask before you order

• Is this germline testing? If you are being treated for cancer, confirm whether the test is looking at inherited DNA, tumor DNA, or both.
• Which genes are included? Ask whether the panel is BRCA-only or includes other hereditary cancer genes relevant to your history.
• Does the method detect large rearrangements? Comprehensive BRCA testing should address more than single-letter DNA changes when clinically appropriate.
• Who will interpret the result? A report is not the same as a risk-management plan.
• What result categories could I receive? Make sure you understand positive, negative, true negative, uninformative negative, and VUS before testing.
• What is my effective total cost? Include lab price, required provider fees, counseling, collection, shipping, and insurance cost-sharing.
• What happens if I test positive? Ask about referrals, screening, prevention options, and family testing.
• How are privacy and data sharing handled? Read the consent form, especially for data use, research, and recontact policies.

Privacy, insurance, and family implications

Genetic test results can affect relatives because first-degree relatives—parents, siblings, and children—often have a 50% chance of carrying the same inherited BRCA variant when a pathogenic variant is found. The CDC encourages sharing important BRCA results with family members who may also benefit from genetic counseling or testing; see CDC tips for talking to family about BRCA results. A genetic counselor can help you decide what to share and may provide a family letter that explains the result without revealing unnecessary medical details.

In the United States, the Genetic Information Nondiscrimination Act generally prohibits genetic discrimination in health insurance and employment. However, it has limits. HHS guidance notes that GINA’s health coverage protections do not extend to life insurance, disability insurance, or long-term care insurance, and employment provisions generally do not apply to employers with fewer than 15 employees; see HHS guidance on GINA. If these issues matter for you, discuss them before testing and consider speaking with a qualified insurance or legal professional.

When not to rush BRCA testing

BRCA testing can be empowering, but there are situations where slowing down improves the quality of the answer. If an affected relative is available and willing to test, testing that person first often gives the family the most informative result. If you recently received a limited direct-to-consumer result, confirm it with a clinical lab before making medical decisions. If you are ordering because of anxiety rather than a specific risk pattern, a counseling visit may clarify whether testing is likely to help or whether a different risk assessment is more appropriate.

You should also avoid making irreversible medical decisions based only on a consumer genetic report, a VUS, or an unreviewed raw DNA file. Clinical confirmation and professional interpretation are essential when the result could affect surgery, medication, cancer screening, or family planning.

FAQs about BRCA testing

Is BRCA testing a blood test?

It can be. Many clinical BRCA tests use blood, but saliva and cheek swab samples are also common. The important distinction is not the sample type; it is whether the test is a clinically appropriate germline genetic test with reliable interpretation and follow-up.

Can men get BRCA testing?

Yes. BRCA variants can be inherited by people of any sex and passed to children by either parent. Men with BRCA variants can have increased risks for male breast cancer, prostate cancer, pancreatic cancer, and melanoma in some contexts. A man’s positive result can also be important for daughters, sons, siblings, and other relatives.

Does insurance cover BRCA testing?

Insurance often covers clinical BRCA or hereditary cancer testing when medical criteria are met, but coverage rules vary. Ask whether prior authorization is needed, whether the lab is in network, whether you will be notified before a high out-of-pocket charge, and whether counseling visits are covered separately.

What is the difference between BRCA testing and breast cancer screening?

BRCA testing looks for inherited genetic variants that may raise cancer risk. Breast cancer screening, such as mammography or breast MRI, looks for signs of cancer. A BRCA result may change the recommended screening plan, but it does not replace imaging or clinical care.

If I already had tumor testing, do I still need germline BRCA testing?

Maybe. Tumor testing looks at genetic changes in cancer cells and can guide treatment. Germline testing looks for inherited variants present throughout the body and can affect family risk and prevention. Sometimes tumor findings suggest the need for germline confirmation.

Can a BRCA result affect family planning?

Yes. Some people use BRCA results when considering reproductive options, including prenatal counseling or IVF with preimplantation genetic testing. These are personal decisions and should be discussed with genetics and reproductive specialists.

What should I do if my direct-to-consumer test says I have a BRCA variant?

Do not make medical decisions from the consumer result alone. Contact a clinician or genetic counselor for confirmatory clinical testing and interpretation. Bring the original report, including the exact variant if listed.

What should I do if my direct-to-consumer BRCA result is negative?

Do not assume hereditary cancer risk is ruled out. Limited consumer tests may check only selected variants. If your personal or family history suggests hereditary cancer risk, ask about clinical genetic counseling and comprehensive testing.

Bottom line

BRCA testing is most valuable when it is ordered for the right reason, performed with a clinically appropriate method, and interpreted in the context of your personal and family history. Before ordering, confirm what the test includes, what it cannot rule out, how results will be explained, what your effective total cost will be, and what follow-up care is available. If the result could change cancer screening, surgery, medication, or family decisions, involve a clinician or genetic counselor before acting on it.

 

Sources

• National Cancer Institute: BRCA Gene Changes—Cancer Risk and Genetic Testing
• U.S. Preventive Services Task Force: BRCA-Related Cancer Risk Assessment, Genetic Counseling, and Genetic Testing
• CDC: Genetic Testing for Hereditary Breast and Ovarian Cancer
• ACOG: BRCA1 and BRCA2 Mutations
• MedlinePlus: BRCA Genetic Test
• FDA: Direct-to-Consumer Tests
• HHS: Guidance on the Genetic Information Nondiscrimination Act