How to Order BRCA Testing: A Step-by-Step Guide

Getting BRCA testing starts with a conversation, either with your primary care doctor or a genetic counselor, who can evaluate your personal and family history and determine whether testing is appropriate. The U.S. Preventive Services Task Force recommends that clinicians screen women using a brief familial risk assessment tool, and those who screen positive should be referred for genetic counseling before any test is ordered. The process from that first conversation to a result in hand typically takes a few weeks, but the steps along the way involve more decisions than most people expect.

Figuring Out Whether You Qualify

Not everyone needs BRCA testing, and most insurance plans will only cover it if you meet specific criteria. The USPSTF recommends assessment for women who have a personal or family history of breast, ovarian, tubal, or peritoneal cancer, or who have ancestry associated with higher rates of BRCA mutations (such as Ashkenazi Jewish heritage).¹ Your doctor will likely use a validated screening questionnaire to assess your risk before referring you further.

The National Comprehensive Cancer Network (NCCN) maintains a more granular list of who should be offered testing. It includes people with a known BRCA mutation in the family, women diagnosed with breast cancer at age 45 or younger, women diagnosed before age 60 with triple-negative breast cancer, anyone with a personal history of ovarian or fallopian tube cancer, and men who have had breast cancer. The criteria also extend to people without cancer themselves but whose close relatives meet certain patterns, such as multiple family members with breast or ovarian cancer, or combinations of breast and pancreatic cancer in the family.²

If you have Ashkenazi Jewish ancestry, the bar for testing is lower. Roughly one in 40 people of Ashkenazi Jewish descent carries one of three well-known founder mutations in BRCA1 or BRCA2, and targeted testing for those specific mutations is recommended for all Ashkenazi Jewish breast and ovarian cancer patients regardless of age at diagnosis or family history.³ Some experts go further and recommend broader hereditary cancer mutation screening for anyone in this population as standard practice.⁴

The Genetic Counseling Step

Before your blood or saliva is collected, you will almost certainly be directed to meet with a genetic counselor. This is not a formality. The pre-test session is designed to walk you through what the test can and cannot tell you, what different results would mean for you and your relatives, and the potential emotional and practical consequences of knowing your status.⁵ The goal is informed decision-making: after the session, you should feel confident that you actually want the information this test will produce.

Research has shown that formal genetic counseling does more than just increase knowledge. Compared to educational materials alone, counseling helps people develop a more realistic understanding of the limitations and risks of testing, including the possibility of ambiguous results or the psychological weight of a positive finding.⁶ Interestingly, neither counseling nor education substantially changed whether people ultimately decided to get tested, suggesting that most people arrive with their minds largely made up but benefit from understanding what they are signing up for.

You can find a genetic counselor through your oncologist or primary care physician, or search for one directly through the National Society of Genetic Counselors. Many counselors now offer telehealth sessions, which can eliminate wait times that used to delay the process by weeks. Some testing laboratories also provide access to genetic counselors as part of their service, though having an independent counselor who is not affiliated with the lab ordering the test can feel more neutral.

Choosing Between a BRCA-Only Test and a Multigene Panel

Once you and your counselor decide to proceed, you face a practical choice: test only for BRCA1 and BRCA2, or order a broader multigene panel that screens for mutations in dozens of cancer-risk genes at once. Both approaches detect BRCA mutations at the same rate. In one study comparing the two, harmful BRCA1/2 mutations were found in about 4% of patients in each group, with no significant difference.⁷

The difference is what else the panel picks up. Among patients who tested negative for BRCA1/2 on a multigene panel, roughly 4% turned out to carry harmful mutations in other cancer-predisposition genes.⁸ Over half of those people received new screening or prevention recommendations they would not have gotten based on family history alone. The trade-off is that broader panels also produce more uncertain results — variants of uncertain significance (VUS) — which can be confusing and anxiety-producing. In that same comparison, about 13% of panel-tested patients received a VUS in a non-BRCA gene, compared to none in the BRCA-only group.

Your genetic counselor can help you weigh these trade-offs based on your specific family history and cancer type. If your family pattern strongly suggests a BRCA mutation (especially with Ashkenazi Jewish ancestry), targeted BRCA testing may be the cleaner path. If the picture is murkier, or if you want maximum information, a panel may make more sense.

How the Sample Is Collected

The physical part of BRCA testing is simple. Most clinical laboratories work with a blood draw, but saliva samples have become an increasingly common alternative. A validation study comparing the two found about 98% concordance in variant detection between saliva and blood samples, supporting saliva as a reliable alternative for germline mutation testing.⁹ If you are ordering through a clinical lab, your provider will arrange the collection, typically at an outpatient lab or the clinic itself. Saliva kits can sometimes be mailed to your home.

Behind the scenes, laboratories use next-generation sequencing to read through the BRCA1 and BRCA2 genes. This technology has largely replaced older methods like Sanger sequencing for the main analysis, and it can detect both small-scale mutations (single-letter changes and tiny insertions or deletions) and larger structural rearrangements in a single workflow.¹⁰ Some labs still use a secondary technique called MLPA to confirm large rearrangements, a practice that remains widespread internationally.¹¹ Results typically come back in two to four weeks.

Paying for the Test

Cost has historically been one of the biggest barriers to BRCA testing. Research has found that women who could not afford partial or full payment were over five times more likely to decline testing even when it was clinically indicated.¹² The landscape has improved in recent years — out-of-pocket costs have fallen and insurer coverage has expanded — but cost can still be a stumbling block for people who do not meet strict coverage criteria.¹³

If you meet NCCN criteria, most private insurers and Medicare will cover the test with little or no cost to you. If coverage is uncertain, ask your provider’s office or genetic counselor to submit a prior authorization before the test is ordered. Many major testing laboratories also run their own patient payment assistance programs, which have significantly reduced barriers to testing, especially at safety-net clinics serving underinsured populations.¹⁴ Ask the lab directly about financial assistance before assuming you cannot afford the test. Some programs cap patient costs at a few hundred dollars or less regardless of insurance status.

Reading Your Results

BRCA test results fall into three categories, and only one of them is straightforward. A negative result means no harmful mutations were found in the genes tested. A positive result means a pathogenic or likely pathogenic variant was identified, confirming an inherited predisposition to certain cancers. The third category, a variant of uncertain significance (VUS), is the one that catches people off guard. A VUS means the lab found a change in the gene, but there is not yet enough evidence to determine whether that change increases cancer risk or is harmless.¹⁵

A VUS result can feel like a non-answer, and that is essentially what it is. Current guidelines say you should not make medical decisions based on a VUS. Instead, it stays on file, and the classification can change over time as more data accumulate. One study tracking reclassifications found that about 15% of VUS results were eventually reclassified — and the vast majority of those were downgraded to benign or likely benign, meaning they turned out to be harmless.¹⁶ Only a small fraction (under 5% of reclassified VUS in that dataset) were upgraded to pathogenic. In another cohort, a reclassification effort reduced the overall proportion of VUS results from 19% down to about 9%.¹⁷

Reclassification does not happen automatically on your end. If you receive a VUS result, ask your genetic counselor or lab about periodic re-evaluation. Some labs proactively re-contact providers when a variant is reclassified; others do not. A recent Turkish cohort study found that 20% of BRCA VUS variants were reclassified on reanalysis, split roughly evenly between upgrades to pathogenic and downgrades to benign.¹⁸ The takeaway: a VUS is not permanent. Staying connected with your genetics team means you will be alerted if new evidence changes the classification.

What Happens After a Positive Result

A confirmed pathogenic BRCA mutation opens a set of risk-management options that your medical team will discuss with you. These fall into two broad categories: enhanced surveillance and risk-reducing surgery. Enhanced surveillance means more frequent and more sensitive screening — typically adding breast MRI to annual mammography, and using blood tests and imaging to monitor for ovarian cancer. Risk-reducing surgery means removing the at-risk tissue before cancer develops.

In practice, many carriers choose surgery. One long-term study found that 65% of BRCA1/2 carriers with intact ovaries at the time of testing eventually underwent risk-reducing removal of the ovaries and fallopian tubes, and 37% underwent risk-reducing mastectomy.¹⁹ Another study found the median time from receiving a positive BRCA result to surgery was about six months for both ovarian and breast procedures.²⁰ Chemoprevention (medications like tamoxifen) and oral contraceptives, which reduce ovarian cancer risk, were used less frequently in the same studies.

The timing and aggressiveness of these decisions depend on which gene is mutated (BRCA1 carries higher ovarian cancer risk than BRCA2), your age, whether you plan to have children, and your personal comfort with surgical versus surveillance-based approaches. No one is expected to decide immediately. Post-test counseling, and sometimes multiple consultations with surgical and medical oncologists, is the norm.

Telling Your Family and Cascade Testing

A positive BRCA result is not just your information — it has direct implications for your blood relatives, each of whom has a 50% chance of carrying the same mutation. Cascade testing refers to the process of testing family members once a specific mutation has been identified in a relative. Because the lab already knows exactly which variant to look for, cascade tests are simpler, faster, and cheaper than the original test. In a targeted cascade approach, the lab checks only the specific spot in the gene where your mutation sits, which saves both cost and interpretation time.²¹

Bringing up genetic testing with family members can be uncomfortable, especially when it means disclosing your own result. Genetic counselors can help you draft a family letter explaining the finding and what it means for relatives. Some people worry about pressuring loved ones, but consider that knowing enables your relatives to pursue their own screening and risk management, potentially catching cancers early or preventing them entirely. Studies of cascade testing have found that roughly half of tested relatives in families with a known BRCA mutation carry the same variant, confirming how efficiently these mutations travel through families.

Direct-to-Consumer Tests Are Not a Substitute

Consumer genetic testing kits have made BRCA screening more visible, but they come with serious limitations. The most widely available consumer BRCA test screens for only three specific Ashkenazi Jewish founder mutations. If you do not carry one of those three but carry a different BRCA mutation, the consumer test will miss it entirely. More concerning, research has found that about 40% of variants flagged as risky in raw consumer genetic test data turned out to be false positives when checked by a clinical laboratory.²² Ashkenazi Jewish founder variants were confirmed reliably, but other BRCA1/2 variants had a substantial false-positive rate.

A separate study looking specifically at hereditary breast and ovarian cancer screening through consumer tests found an even higher false-positive rate of 69% for pathogenic or likely pathogenic variants outside the Ashkenazi Jewish founder mutations.²³ If you have received a positive result from a consumer test, the next step is always clinical confirmation through a certified laboratory. Do not make any medical decisions based on a consumer test alone.

Legal Protections for People Who Get Tested

One concern that holds some people back from BRCA testing is the fear that a positive result could be used against them by insurers or employers. In the United States, the Genetic Information Nondiscrimination Act (GINA) addresses this directly. GINA prevents health insurers from using genetic test results to determine eligibility or set premiums, and it bars employers from requesting or purchasing genetic information.²⁴

GINA has real gaps, though. It does not apply to life insurance, disability insurance, or long-term care insurance. It also does not cover military personnel or employees of very small businesses. And there is an important distinction: GINA protects people with a genetic predisposition, but its protections are separate from those applying to people already diagnosed with cancer. If you are considering purchasing life or disability insurance, it may be worth doing so before receiving BRCA results, since those policies can factor in genetic information that health insurance cannot.

BRCA Testing in Men

BRCA testing is often framed as a women’s health issue, but men carry and pass on BRCA mutations at the same rate. A man with a BRCA2 mutation faces increased risks of prostate cancer, with some evidence suggesting it is the most commonly altered gene in early-onset prostate cancer in men under 65. BRCA2-mutated prostate cancers also tend to be more aggressive, with more advanced disease at diagnosis and shorter survival.²⁵ BRCA2 mutations also increase the risk of male breast cancer and pancreatic cancer. BRCA1 mutations carry smaller prostate cancer risks but are still clinically meaningful.

The NCCN criteria explicitly include men with breast cancer as candidates for testing. But even men without cancer should consider testing if they have a family history that meets the criteria described earlier — particularly if female relatives carry known mutations. A man who tests positive can pass the mutation to his daughters and sons, making his result critical for cascade testing in the next generation. Men also benefit from tailored screening: BRCA2 carriers are often advised to begin prostate cancer screening earlier than the general population.

Somatic Versus Germline Testing

If you already have cancer, your oncologist may discuss two types of BRCA testing, and it helps to understand the difference. Germline testing looks at your inherited DNA (from a blood or saliva sample) and tells you whether a BRCA mutation runs in your family. Somatic testing analyzes the tumor itself and checks whether the cancer acquired a BRCA mutation during its development, even if you were not born with one. The American Society of Clinical Oncology has recommended that all women with epithelial ovarian cancer receive germline testing, and those without a germline mutation should then have somatic tumor testing to determine eligibility for a class of targeted drugs called PARP inhibitors.²⁶

The practical point: a germline test gives you information about cancer risk for yourself and your family for life. A somatic test gives your oncologist information about how to treat the cancer you have right now. They answer different questions, and for some patients, both are needed.

The Emotional Side of Testing

Worrying about how you will feel after receiving results is normal and worth taking seriously. Research on the psychological impact of BRCA testing has found a consistent pattern: carriers experience a spike in distress, anxiety, and depressive symptoms in the first months after learning their result, but these symptoms generally settle to baseline within a year and do not persist as clinically significant problems over the long term.²⁷

One finding that surprises many people: studies have not consistently found that positive results cause more emotional distress than negative ones in the short term. Women who learn they are carriers and women who learn they are not sometimes report comparable levels of negative emotion shortly after disclosure.²⁸ The strongest predictor of post-test anxiety is not the result itself but rather how anxious you were before the test.²⁹ Partners also experience significant anxiety — in one study, 35% of partners of mutation carriers reported high anxiety levels after disclosure. If you are going through this process, telling a partner or close friend beforehand and looping them into the counseling conversation can help both of you prepare.