Understanding Your Genetic Test Results

Receiving your genetic test results is a significant moment, and understanding what those results mean is essential for making informed decisions about your health. Genetic test results fall into several categories, each with different implications. For a broader overview of the testing journey, see our BRCA testing guide.

A positive result means the laboratory identified a change in one of your genes — such as BRCA1 or BRCA2 — that is known to be associated with an increased risk of cancer. This is called a pathogenic or likely pathogenic variant. For a detailed guide to next steps after a positive finding, see what happens after a positive result.

Important things to understand about a positive result:

• It does not mean you have cancer or that you will definitely develop cancer. It means your risk is higher than average.
• It may mean enhanced screening, preventive measures, or changes to your healthcare plan are recommended.
• Your biological relatives may also carry the same variant and may benefit from testing — this is called cascade testing.
• Your genetic counselor will work with you to develop a personalized risk management plan. Learn more about what to expect in a genetic counseling session.

A negative result means no pathogenic variants were identified in the genes tested. However, interpreting a negative result requires context:

• If a known pathogenic variant exists in your family and you test negative for that specific variant, this is a true negative — your risk is likely similar to the general population for that syndrome.
• If no known variant has been identified in your family, a negative result is considered uninformative — there could still be a hereditary factor that current testing cannot detect.
• A negative result does not eliminate all cancer risk. Routine age-appropriate cancer screening remains important. Learn more about screening recommendations in our hereditary cancer screening guide.

This distinction is one of the most misunderstood aspects of genetic testing, and getting it wrong can lead to a false sense of security or unnecessary anxiety.

True negative: A true negative occurs when a specific pathogenic variant has already been identified in your family, and your test shows you do not carry that variant. In this case, your cancer risk for that hereditary syndrome returns to approximately that of the general population. You can follow standard age-appropriate screening guidelines rather than enhanced protocols.

Uninformative negative: An uninformative negative occurs when no one in your family has been tested first (or no variant has been found in a relative), and your test comes back negative. This result does not mean your family lacks a hereditary risk. There are several reasons you could still be at elevated risk:

• You may carry a variant in a gene that was not included on your testing panel.
• Your family may have a variant that current technology cannot detect (such as large deletions or rearrangements not covered by standard sequencing).
• The hereditary risk in your family may be caused by a gene that has not yet been identified by researchers.

Why this matters: If your negative result is uninformative, your healthcare team should still consider your personal and family history when making screening recommendations. You may still qualify for enhanced surveillance based on clinical risk models, even without a confirmed genetic variant. Ask your genetic counselor whether your result is a true negative or uninformative — and what that distinction means for your screening plan. For guidance on working with a counselor, see our genetic counseling for hereditary cancer resource.

A VUS means the lab found a genetic change, but there is not yet enough scientific evidence to determine whether it increases cancer risk. VUS results are relatively common, especially in multi-gene panel testing.

Key points about VUS results:

• A VUS should not be used to make medical decisions. Clinical management should be based on your personal and family history, not the VUS.
• Many VUS are eventually reclassified as either benign or pathogenic as more data becomes available. Moderate-risk genes like CHEK2 are sometimes initially reported as VUS before reclassification.
• Your genetic counselor or testing laboratory may contact you if your VUS is reclassified in the future.

For a deeper understanding of VUS findings, see our dedicated guide on variants of uncertain significance.

1. Review with your genetic counselor: They will explain the implications specific to your situation and help you understand next steps.
2. Share with your healthcare team: Your primary care physician, oncologist, or other specialists should be informed so they can adjust your screening and management plan if needed.
3. Consider family implications: If you have a positive result, close relatives may benefit from learning about their own risk through targeted testing for the identified variant.
4. Keep records: Maintain a copy of your genetic test report. As the science evolves, your results may be reinterpreted or become relevant in new ways.

Receiving genetic test results can bring a range of emotions — relief, anxiety, uncertainty, or a sense of empowerment. All of these responses are normal. If you find the results emotionally challenging, your genetic counselor can connect you with support resources, including patient advocacy organizations and counseling services.

For details about the process that leads to results, see our step-by-step guide to genetic testing.