At-home BRCA gene tests: What to know

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The presence of BRCA genes, such as BRCA1 and BRCA2, can increase the risk of various types of cancer. Genetic testing is one way of identifying genetic mutations with links to certain cancers, such as breast cancer.

Healthcare practitioners can administer genetic tests to identify these mutations. In addition, at-home BRCA gene testing kits have become available on the market.

Quick links

• Best overall: Color Genetic Test for Common Cancers
• Best for accuracy: Ultimate Genome Sequencing Breast Cancer Package
• Best test without physician referral: 23andMe Personal Genome Service Genetic Health Risk Report for BRCA1/BRCA2
• Best medical grade testing: Invitae Cancer Screen
• Best customizable test: tellmeGen DNA Test Advanced
• Best comprehensive information: Nebula Genomics Deep Whole Genome Sequencing

All human genes contain DNA that carries the code for an individual’s distinctive traits, such as hair or eye color. A person receives two copies of each gene — one from each biological parent. This means that an individual inherits a BRCA1 and BRCA2 gene from each biological parent, leaving them with two of each gene.

The BRCA genes normally produce proteins that prevent the development of breast cancer by repairing damaged DNA, essentially suppressing tumor growth.

However, those who receive damaged BRCA genes are more at risk of developing several types of cancer. If a person inherited a harmful variant of the BRCA1 or BRCA2 gene, they would have inherited a normal copy of that gene from the other parent. However, during their lifetime, the normal copy can become lost or changed in some cells in the body. Individuals with these mutations have hereditary breast and ovarian cancer (HBOC) syndrome.

Additionally, other less common genes contribute to breast cancer risk.

Current research suggests that inherited BRCA gene mutations account for 3% of breast cancers and 10% of ovarian cancers each year. However, only some individuals who inherit mutated BRCA1 and BRCA2 genes will go on to develop breast or ovarian cancer.

Members of families with a strong history of breast or ovarian cancer are most likely to have BRCA1 or BRCA2 mutations. These individuals are the best candidates for genetic testing, which detects mutations in the BRCA genes.

Only about 0.2% of the United States population has BRCA gene mutations that increase cancer risk. So, BRCA genetic testing is not necessary for most people.

However, those at risk of having BRCA gene mutations with extensive family histories of breast and ovarian cancer may benefit from speaking with their doctor or genetic counselor about genetic testing. This discussion may include information about:

• the number of relatives with cancer
• the specific relation of those relatives
• particular types of cancer
• the ages at the time of diagnosis

The healthcare professional or counselor may also discuss the different types of genetic tests and their advantages and disadvantages. In addition, they may explain the meaning of various genetic testing results.

There are more than 1,000 BRCA mutations. Currently, genetic tests only screen for the most common mutations, and a negative test result for common mutations does not rule out an increased risk of breast cancer.

Most tests for BRCA gene mutations involve taking blood samples with a small needle from a vein in the arm. Sometimes, doctors will use saliva tests. No preparation is necessary for either test.

Additionally, some screenings use a multigene panel that can identify mutations in more than one gene. Other tests will look for one specific mutation that works best for those with a family member with a specific BRCA mutation.

BRCA gene testing results may indicate the following:

• Positive for specific mutation: This result can help those with an existing breast cancer diagnosis choose between treatment options. It can also assist people without a current diagnosis in taking steps to reduce their cancer risk. The degree of increased risk depends on the specific mutation.
• Positive for variant of unknown significance: This means a genetic mutation is present but is unknown to increase cancer risk.
• Negative: This means the test detected no genetic mutations that could increase the risk of cancer. However, someone can receive this result and still develop the disease.
• Inconclusive: This means the test has failed to conclude whether a gene mutation exists or not.

The National Cancer Institute (NCI) estimates that around 55–72% of women with a BRCA1 mutation and 45–69% of women with a BRCA2 mutation will develop breast cancer by the age of 70–80 years. For comparison, roughly 13% of women in the general population will develop breast cancer.

The NCI also states that 39–44% of women with BRCA1 mutations and 11–17% of those with BRCA2 mutations develop ovarian cancer. In comparison, just 1.2% of women develop ovarian cancer in the general population.

More than 1,000 BRCA mutations exist, but many at-home BRCA mutation test kits can only identify a few of the most common ones.

Other kits include full-panel tests, which are unreliable and lack approval from the Food and Drug Administration (FDA). However, they may benefit individuals with limited access to genetic testing through their healthcare provider.

It is important to note that home BRCA gene tests should not replace a consultation with a doctor or other healthcare professional. Those who use these home testing kits should consider speaking with a genetic counselor.

The advantages of at-home BRCA gene test kits are that they are often convenient and, with prices ranging between $200 and $300, can often be less expensive than similar tests from healthcare clinics.

The disadvantages include:

• testing limitations, as the kits only check for three mutations
• positive results that may be incorrect
• a lack of direct genetic counseling

Please note that the writer of this article has not tried these products. All information presented is purely research-based.

Color: Genetic Test for Common Cancers

Best overall

This company requires the name and contact information of the user’s doctor, who must approve their eligibility for the test. Alternatively, the service can instruct a healthcare professional to review the eligibility of anyone without a doctor.

The test requires a saliva sample and takes around 3–4 weeks to process. The service can also connect people to genetic counselors and provide follow-up reports.

Customer reviews state the test is “easy to understand and guides you through the process in an approachable, calm way.”

The cost for this test is $250.

Ultimate Genome Sequencing Breast Cancer Package

Best for accuracy

This company provides clinical-grade sequencing and ensures the confidentiality of results. The service includes a 1-month Silver membership that provides two additional DNA reports.

The test involves a saliva test sample and takes around 8 weeks for results. And while the company offers comparison data, it does not provide genetic counseling.

Customer reviews state that it is “the most accurate DNA test I took.”

The cost for this test is $394.

23andMe Personal Genome Service Genetic Health Risk Report for BRCA1/BRCA2

Best test without a physician referral

23andMe does not require a doctor to order this test, which detects three out of over 1,000 BRCA mutations. The tests are FDA-approved and come with a guarantee of data privacy.

23andMe collects a person’s saliva samples and takes around 3–4 weeks to return results. The service provides this information via an app but does not provide genetic counseling or follow-up reports.

Customer reviews state that it offers “excellent for real, actionable health information.”

The cost for this test is $99, plus $9.99 per month for an optional membership.

Invitae Cancer Screen

Best medical grade testing

Invitae provides medical-grade genetic testing. Its tests feature an interactive, educational portal to help people understand their results. The service also offers complete data privacy, but all tests require approval by a doctor.

The tests require saliva samples and take 10–21 days to return results. The company also provides access to educational materials and genetic counseling at no extra cost.

However, customer reviews on the Better Business Bureau highlight that while the company claims insurance companies will reimburse testing costs, they fail to follow through.

The cost for this test is $250.

tellmeGen DNA Test Advanced

Best customizable test

Using a person’s saliva sample, this company offers information on 440 genetic traits with links to health and well-being. The service takes around 4–6 weeks to return results and offers additional genetic counseling.

Customer reviews state that they provide an “amazing, secure, customizable DNA test!”

The cost for this test is $99.

Nebula Genomics Deep Whole Genome Sequencing

Best comprehensive information

This company decodes 100% of a person’s DNA and provides quality results ready for interpretation by a doctor or genetic counselor. The service also guarantees the privacy of personal information.

The test either uses a cheek swab or saliva sample, with results available in around 12–14 weeks.

Customer reviews state that “no [other company] gets even close to the amount of information Nebula gives you.”

The cost for this test is $299, plus a subscription cost of $20 per month.

The following are common questions and answers about BRCA testing.

Is it worth testing for the BRCA gene?

People with a strong family history of breast or ovarian cancer would benefit from gene testing. However, they should be aware of the strengths and limitations of these screening techniques.

What is the difference between BRCA1 and BRCA2?

Mutations in each gene can increase the risk of different cancers. Medical research links triple-negative cancers with mutations to BRCA1 genes and sporadic breast cancers with mutations to BRCA2 genes.

What does it mean if a person has the BRCA gene?

This means that the individual is likely to have a mutation in either the BRCA1 or BRCA2 gene, putting them at an increased risk of developing breast cancer.

Mutations in the BRCA1 and BRCA2 genes can elevate a person’s risk of developing breast, ovarian, and other types of cancers. Genetic testing can identify BCRA gene mutations.

These test results could guide individuals in taking additional measures to help prevent the development of disease or assist doctors in choosing cancer treatments. And while home BRCA gene tests are now available on the market, they come with limitations.

Anyone who might have a BRCA gene mutation should discuss genetic testing with their doctor or genetic counselor.