How to Get Tested for the BRCA Gene: A Step-by-Step Process

Getting tested for BRCA1 or BRCA2 gene mutations follows a fairly predictable path: you assess whether your personal or family history warrants testing, meet with a genetic counselor, provide a blood or saliva sample, and then interpret the results with a professional who can guide next steps. The process sounds simple, but each stage involves decisions that shape how useful the results actually are. And who qualifies, what the test covers, and what the results mean are all more nuanced than most people expect going in.

Figuring Out Whether You Should Be Tested

Not everyone benefits from BRCA testing. The U.S. Preventive Services Task Force recommends that primary care providers screen patients who have family members with breast, ovarian, tubal, or peritoneal cancer using validated risk-assessment tools. People whose screening results suggest elevated risk should then be referred for genetic counseling and, if appropriate, BRCA testing. The same guidelines recommend against routine testing for people whose family history does not suggest increased risk.

Several red flags point toward a higher chance of carrying a harmful BRCA mutation. These include breast cancer diagnosed before age 50, bilateral breast cancer, both breast and ovarian cancer in one person, a male relative with breast cancer, multiple cases of breast cancer in the family, a family member with two BRCA-related cancers, and Ashkenazi Jewish ancestry.¹ These criteria exist because BRCA mutations are relatively rare in the general population, and testing people at low risk produces more confusing results than useful ones.

Ashkenazi Jewish ancestry is singled out because the carrier frequency is unusually high in that population. About 2% of Ashkenazi Jews carry one of three specific founder mutations in BRCA1 or BRCA2, compared to a general-population carrier rate that is roughly five to ten times lower.² Because of this, some guidelines lower the threshold for recommending testing in people with this background, even if their family history is less dramatic.

One thing worth knowing: BRCA testing is not just for women. There is convincing evidence that male carriers of BRCA1 or BRCA2 mutations face increased risks of prostate cancer, pancreatic cancer, and male breast cancer.³ Roughly 10% of inherited mutations found in metastatic castration-resistant prostate cancer are germline, meaning they were passed down rather than arising spontaneously in the tumor.⁴ National guidelines now recommend germline testing for men with prostate cancer in certain clinical scenarios. If you are a man with a strong family history of BRCA-related cancers, do not assume this testing is only relevant to the women in your family.

The Genetic Counseling Appointment

Before any blood is drawn or spit collected, most pathways include a genetic counseling session. This is not a formality. Pre-test counseling focuses on giving you enough information about the test, its limitations, and the potential consequences of a positive result to let you make a genuinely informed decision about whether to proceed.⁵ The counselor will walk through your family tree in detail, discuss how accurate the test is, explain what each type of result means, and talk about the psychological impact of learning your status.

Research has shown that personalized counseling, compared to a simple educational session, does a better job of helping people understand both the limitations and the risks of testing.⁶ Interestingly, that same study found that neither counseling nor education changed people’s intentions to go through with testing. Most people who show up for a counseling appointment have already decided they want to know. The counseling still matters, though, because it prepares you to understand and cope with whatever comes back.

During this appointment, the counselor will likely use a risk-estimation model to calculate the probability that you carry a BRCA mutation. Models like BRCAPRO take your personal and family cancer history and produce a percentage. These tools are not perfect, but they help clinicians decide whether testing is likely to be informative. One validation study found that when the model estimated a mutation probability above 30%, its predictions were highly accurate.⁷ At lower probabilities, the model still helps but is less decisive, which is why the counselor’s clinical judgment and your detailed family history remain central to the decision.

Giving Your Sample

If you and your counselor decide to proceed, the actual sample collection is the least complicated part. You will either have a small blood draw or, increasingly, provide a saliva sample. Blood has traditionally been the standard, but saliva has gained acceptance. A validation study found about 98% concordance in variant detection between saliva-derived and blood-derived DNA for hereditary breast cancer mutations.⁸ That is close enough that many labs now offer saliva kits, which can sometimes be completed at home and mailed in.

Your sample goes to a clinical genetics laboratory, where technicians extract your DNA and run it through a sequencing process. The overwhelming majority of labs worldwide use next-generation sequencing, with platforms from Illumina being the most common. Labs also look for large rearrangements, which are structural deletions or duplications that standard sequencing can miss. Most non-US labs use a technique called MLPA for this step, while US labs more often rely on microarray-based approaches.⁹ The details of which platform your lab uses should not concern you much as a patient, but it is reassuring to know that accredited labs are expected to detect the full range of mutation types, including point mutations, small insertions and deletions, and large rearrangements.¹⁰

Results typically come back within two to four weeks, though turnaround times vary by lab and location.

BRCA-Only Testing Versus Multigene Panels

You and your provider will need to decide whether to test for BRCA1 and BRCA2 alone or to order a broader multigene panel that includes other cancer-risk genes. This choice matters more than most patients realize. A study comparing the two approaches found that multigene panel testing identified harmful BRCA1/2 mutations at the same rate as BRCA-only testing, but an additional 4% of patients had disease-causing mutations in other genes that BRCA-only testing would have missed entirely.¹¹ A separate systematic comparison confirmed this, finding clinically relevant mutations in about 4.5% of BRCA-negative cases when other genes were included.¹²

The tradeoff is that broader panels also turn up more variants of uncertain significance, meaning genetic changes whose cancer implications are unclear. In one study, about 13% of patients who had panel testing received at least one uncertain finding in a non-BRCA gene.¹¹ Those results can generate anxiety without providing actionable information, at least until the variant is reclassified as either harmful or benign. For some patients, the chance of catching a non-BRCA mutation is worth the added ambiguity. For others, especially those with a clear family pattern pointing specifically to BRCA, a targeted test may be the better fit. Your genetic counselor can help weigh these tradeoffs based on your specific situation.

For women already diagnosed with epithelial ovarian cancer, major oncology guidelines now recommend germline BRCA testing universally, regardless of family history, partly because BRCA status can determine eligibility for targeted therapies like PARP inhibitors. Those without a germline mutation should also have their tumor tissue tested for somatic BRCA changes.¹³

What the Three Types of Results Mean

Your results will fall into one of three categories, and the differences between them are critical.

A positive result means the lab found a known pathogenic or likely pathogenic variant in BRCA1 or BRCA2. This does not mean you will definitely develop cancer. Penetrance estimates vary, but one large study found that by age 80, the risk of breast cancer for BRCA mutation carriers was roughly 40-57%, depending on the specific mutation and family context.¹⁴ BRCA2 carriers also face elevated risks of prostate cancer, pancreatic cancer, stomach cancer, and melanoma.¹⁵ The point is that a positive result shifts your risk substantially upward but does not make cancer inevitable. Your actual risk is also modified by other genetic factors. Research on polygenic risk scores has shown wide variation even among BRCA1 carriers: those at the lower end of the polygenic spectrum had a 56% breast cancer risk by age 80, while those at the upper end faced a 75% risk.¹⁶

A true negative result means the lab looked for a specific mutation known to run in your family and did not find it. This is the clearest good news you can get: your risk drops back to roughly the general population level. The key is that a true negative requires that a family member already tested positive, so the lab knows exactly which mutation to rule out.

The trickiest result is called uninformative negative, sometimes called “no mutation detected.” This happens when the lab sequences your BRCA genes and does not find a known harmful change, but no one in your family has previously tested positive for a specific mutation. An uninformative negative does not mean you are in the clear. It could mean your family’s cancer pattern is driven by a mutation the test does not detect, by a gene other than BRCA1 or BRCA2, or by non-genetic factors. Research on how patients process this result shows that many feel reassured, but less so than people who receive a true negative.¹⁷ A small number of people with uninformative results incorrectly conclude that their risk is essentially zero, which can lead them to relax screening too much.¹⁸ If your result is uninformative, your doctor should still base your screening plan on your personal and family history, not on the test result alone.

The Variant of Uncertain Significance Problem

There is a fourth category that deserves its own discussion: the variant of uncertain significance, or VUS. This means the lab found a genetic change, but current evidence cannot determine whether it increases cancer risk or is harmless. A VUS is not a positive result, and clinical decisions should not be based on it. Instead, patients with a VUS should be managed based on their family history and other clinical features, and the classification of the variant should be revisited over time as more data accumulate.¹⁹

The challenge is that VUS results create genuine confusion for both patients and clinicians. A survey of genetic counselors found significant diversity in how they personally interpreted VUS results, leading to varied and sometimes contradictory clinical recommendations.²⁰ If you receive a VUS, the most important thing to understand is that it is not bad news, it is incomplete information. Many VUS results are eventually reclassified as benign. Ask your genetic counselor how you can be notified if the classification changes.

Costs and Insurance Coverage

Cost is one of the biggest practical concerns people have, and the picture has changed dramatically. Before patents on BRCA gene testing expired in 2013, a single company controlled the test and prices could exceed $3,000. Competition has driven prices down substantially, and many labs now offer the test for a few hundred dollars out of pocket.

In the United States, the Affordable Care Act requires most private insurance plans to cover BRCA counseling and testing without cost-sharing for women who meet risk criteria. Medicare and Medicaid coverage varies by state and clinical context. If you have a strong family history and meet guideline criteria, there is a good chance your insurance will cover testing entirely. If you do not meet the standard criteria but still want to pursue testing, you may face out-of-pocket costs, though some lab companies offer financial assistance programs or cap self-pay pricing.

From a health-system perspective, BRCA testing is cost-effective. An economic analysis found that testing women with breast cancer and then offering cascade testing to their relatives produced significant health gains at a cost well below standard willingness-to-pay thresholds.²¹ The cascade testing component, where relatives of a confirmed carrier are offered targeted testing for the specific family mutation, added relatively little cost while substantially increasing the benefits.

A common worry is whether a positive result will affect your ability to get insurance. In the US, the Genetic Information Nondiscrimination Act (GINA) prohibits health insurers and employers from discriminating based on genetic test results. However, GINA does not cover life insurance, disability insurance, or long-term care insurance. This gap means that in some situations, a positive BRCA result could theoretically influence underwriting for those products. Some states have passed additional protections, but coverage is uneven. This is worth discussing with your genetic counselor before testing if these insurance types are important to you.

What Happens After a Positive Result

A positive BRCA test opens up a range of risk-management options. None of them needs to happen immediately, and the best approach depends on your age, cancer history, mutation type, and personal preferences.

Enhanced screening is the least invasive option. For breast cancer, this typically means annual breast MRI in addition to mammography, starting earlier than the general-population recommendation. For ovarian cancer, screening is less reliable, which is why surgical prevention is discussed more urgently for that risk.

Preventive surgery offers the strongest risk reduction. Prophylactic bilateral mastectomy substantially reduces breast cancer incidence, and prophylactic removal of the ovaries and fallopian tubes reduces both ovarian and breast cancer risk. These procedures carry real side effects, including surgical menopause if performed before natural menopause, and uptake varies widely across countries.²² A systematic review confirmed that both mastectomy and oophorectomy reduced cancer incidence compared to surveillance, though protection was not complete and the studies had limitations.²³

Chemoprevention is another option. Medications like tamoxifen and raloxifene can reduce breast cancer risk in high-risk individuals, though they come with their own side effects and are more commonly discussed for people who are not ready for or do not want surgery. Cost-effectiveness analyses have found that for BRCA1 carriers, prophylactic oophorectomy was the most cost-effective single intervention, while for BRCA2 carriers the same held true, with preventive surgeries consistently outperforming screening alone in economic models.²⁴

Telling Your Family and Cascade Testing

If your result is positive, one of the most important steps is informing your blood relatives. Every first-degree relative of a BRCA carrier has a 50% chance of carrying the same mutation. Cascade testing, where relatives are tested for the specific mutation already identified in the family, is faster, cheaper, and more straightforward than the initial test because the lab knows exactly what to look for.

Despite the clear benefits, uptake is lower than you might hope. One study found that among adult first- and second-degree relatives of carriers, only about 48% had cascade testing. First-degree relatives were more likely to get tested than second-degree relatives, and women were more likely than men. At least 11% of eligible relatives had not even been informed of the family’s mutation status.²⁵ Family dynamics, geography, estrangement, and simple avoidance all play a role. Some genetic counselors can help with strategies for sharing the information, including template letters you can send to relatives who you are not comfortable telling in person.

Reproductive Options for Carriers

One question that younger carriers often have is whether they can prevent passing the mutation to their children. The answer is yes, through preimplantation genetic testing for monogenic disorders, or PGT-M. This involves IVF: embryos are created, biopsied, and tested for the specific family mutation before transfer. Only embryos that do not carry the BRCA variant are implanted.

A study tracking patients who used PGT-M for BRCA mutations from 2010 to 2021 found that 86% of patients obtained at least one BRCA-negative embryo suitable for transfer, and about 59% of embryo transfers resulted in live births.²⁶ Cost-effectiveness analysis suggests this approach is economically reasonable for selected couples with high mutation-related health risks.²⁷ It is worth noting that utilization remains low overall, partly due to the physical and financial demands of IVF and partly because some carriers are comfortable with the knowledge that carrying a BRCA mutation does not guarantee cancer. This is a deeply personal decision, and there is no right answer. But if avoiding transmission is important to you, it is technically achievable and increasingly accessible at fertility clinics experienced with genetic testing.