BRCA Gene Testing: What to Know

As you probably know, getting regular mammograms is an important part of breast health. But another test uses a blood sample (and sometimes saliva) to analyze DNA for potential mutations and help you understand your inherited risk.

The BRCA gene test looks for changes in the BRCA1 or BRCA2 genes—your genetic code (DNA)—that can increase the chance of developing certain cancers. This test does not diagnose cancer; it provides information about risks, which you and your doctor can use to plan next steps.

Who Can Benefit from BRCA Gene Testing?

BRCA gene testing is often considered for people with a personal or family history of breast or ovarian cancer and concern about inherited risk. It may help clarify whether cancer risk runs in your family (inherited risk).

You might discuss BRCA gene testing if you have:

• A personal history of breast or ovarian cancer
• A family history of breast or ovarian cancer
• Multiple relatives with related cancers
• Questions about inherited cancer risk

Before testing, talking to a genetic counselor can help you decide whether this step makes sense for you.

Why a Genetic Counselor's Support is Important

Talking to a genetic counselor is encouraged for anyone considering any type of gene testing. A genetic counselor compiles a detailed family and personal medical history, assesses personal risks, and reviews the benefits and risks of genetic testing.

This step helps you understand your options and prepare for possible results. While the physical side effects of BRCA gene testing are slight, the emotional effects can take a toll on some people.

A genetic counselor can help you:

• Review your family and personal medical history
• Understand possible results and what they mean
• Talk through emotional and social concerns
• Plan next steps before and after testing

Some people feel anxiety, sadness, or uncertainty after testing, regardless of the result. Results can also affect family conversations, especially when decisions about prevention or monitoring are involved.

What are the Steps for the BRCA Test?

The BRCA gene test is most often done as a blood test. A health care professional inserts a needle into a vein to collect a sample, which is then sent for analysis.

When necessary, DNA samples can be collected from other materials, such as saliva. The process is generally simple and similar to other routine blood tests.

With a blood draw, you may notice:

• Mild discomfort at the needle site
• Lightheadedness
• Minor bleeding
• Bruising

What Your BRCA Test Results Mean

Test results for the BRCA gene test typically take a few weeks. Your genetic counselor or regular doctor will review the results with you and discuss what they may mean for your health.

The results can be positive, negative, or inconclusive (a “variant of uncertain significance,” or VUS).

Positive Results

When receiving positive results, it means that a mutation was found in either the BRCA1 or BRCA2 gene. A positive result does not mean that you are certain to have cancer; rather, it means your risk is higher compared to someone without the mutation.

This result is a reason to talk with your care team about a personalized prevention and screening plan. Regular cancer screenings recommended by your provider—and steps to monitor your health and lower risk where possible—are often part of that conversation.

Negative Results

When results come back negative, it means that no harmful (pathogenic/likely pathogenic) change was found in the genes tested. If a specific harmful BRCA variant is already known in your family and your test is negative for that exact variant, this is often called a “true negative.”

If no known family variant has been identified, a negative result may be “uninformative,” and your risk assessment still depends on your personal and family history.

It is important to remember that a negative result does not guarantee that you will never get cancer. Continuing ongoing, regular cancer screenings based on your personal and family history remains important, and your provider can help you understand your overall risk.

Inconclusive Results

When results come back as inconclusive, or uncertain, it means that a genetic variation (often called a VUS) was found, but its impact on your cancer risk is not yet clear. This uncertainty can naturally lead to questions and anxiety, which is why follow-up with a genetic counselor is important.

During this follow-up, you can discuss next steps, such as ongoing monitoring and checking back in for possible updates as researchers learn more about specific genetic variations.

Should You Get Tested Again?

Researchers continue to study gene mutations, and our understanding of genetic variations continues to grow. Gene testing is continually evolving, including the BRCA gene test.

It may be worth revisiting testing options if your original test was done years ago, if additional family information surfaces, or if new family members develop cancer. A genetic counselor can help you decide whether updated testing or interpretation could provide new insight.

Next Steps After BRCA Gene Testing

While genetic test results are not always clear, they can help guide conversations about prevention and early detection. Speaking with a genetic counselor and your regular doctor can help you understand what your results mean for you and your family.

Write down your questions before your appointment, and ask about screening, prevention, and family communication.