You Received a Hereditary Cancer Genetic Test Result. Here Is What It Means.
Whether your result was positive, negative, or uncertain, this page explains what each outcome means for your health, your screening plan, and your family.
The Three Possible Outcomes and What They Mean
- Positive: A hereditary mutation was identified. This is actionable information — it guides screening, prevention conversations, and alerts relatives who may want to test.
- Negative: No mutation was identified on the panel tested. This is reassuring but does not eliminate all hereditary risk — it rules out the mutations covered by that specific panel.
- Variant of Uncertain Significance (VUS): A genetic change was found, but its clinical meaning is not yet established. This is not a positive result. Most VUSs are reclassified over time as more data accumulates.
What Each Result Means and What Usually Happens Next
A positive result identifies a specific gene mutation associated with elevated cancer risk. The clinical significance depends on which gene is affected — BRCA1, BRCA2, Lynch syndrome genes, CHEK2, ATM, and others each carry different risk profiles and different recommended surveillance schedules.
A negative result means no mutation was found on the panel tested. It does not mean zero hereditary risk — it means the tested mutations were not identified. If your family history is strong and testing is negative, a genetic counselor may discuss whether updated testing or alternative explanations are worth exploring.
What Usually Happens Next
After a positive result, the standard next steps are: a post-test genetic counseling session to understand the specific mutation and its implications, review of recommended screening schedule changes, and discussion of options for first-degree relatives.
After a VUS result, the standard next step is a counseling session to understand what the uncertainty means and how it will be monitored. You should not make screening changes based solely on a VUS.
How Next Steps Differ for Positive, Negative, and VUS Results
After a positive result
Schedule a post-test counseling session if you have not already. Your counselor will explain what the specific mutation means for your cancer risk, what screening changes are recommended, and what options exist for relatives. This session is where the result becomes a plan.
After a negative result
A negative result typically means your screening continues at general population guidelines unless your family history justifies continued elevated surveillance. Discuss with your genetic counselor whether your negative result changes any monitoring that was previously recommended based on family history alone.
After a VUS result
A VUS is not a positive result. Do not make clinical decisions based on a VUS alone. Your genetic counselor will monitor the variant’s classification over time — labs regularly update VUS classifications as evidence accumulates. If reclassified as pathogenic, your counselor will notify you.
Sharing results with your medical team
Your genetic counselor can provide a results summary formatted for your primary care physician and relevant specialists. Making sure your full medical team has your results is an important step that is often overlooked.
What Your Result Means for Your Family
A positive result has direct implications for first-degree relatives. Each parent, sibling, and child has approximately a 50% chance of carrying the same mutation. They can pursue cascade testing to find out their own status.
A negative result is also relevant for family communication — it may reassure relatives who were considering testing based on your results, or it may prompt further discussion if family history remains concerning.
A VUS result should be communicated carefully to relatives. It does not mean they should pursue testing based solely on your VUS — the clinical meaning is not yet established.
- First-degree relatives (parents, siblings, children) — 50% chance if positive mutation confirmed
- Cascade testing for relatives is most straightforward when the specific mutation is known
- Genetic counselors can help you think through how to communicate results — positive, negative, or VUS — to family members
How LifeShield Can Help
Post-test genetic counseling
A dedicated session to review your result, explain its implications, and build a clear next-steps plan
Screening coordination
Your counselor will explain what surveillance changes are clinically indicated based on your specific result
Results documentation
A formatted summary you can share with your primary care physician and relevant specialists
Family cascade support
Guidance for relatives who want to understand their own risk based on your positive result
Reviewed by LifeShield Medical Team · Last reviewed March 2026
Frequently Asked Questions
A positive result means a hereditary gene mutation associated with elevated cancer risk was identified. It does not mean you will develop cancer. It means your risk is elevated and that specific screening and prevention conversations are now clinically indicated.
A VUS is a genetic change that has been identified but whose clinical significance is not yet established. It is not a positive result. Most VUSs are eventually reclassified as benign or pathogenic as more evidence accumulates. Do not make clinical decisions based solely on a VUS.
A negative result means no mutation was found on the panel tested. It does not eliminate all hereditary risk. If your family history remains strong, your genetic counselor may discuss updated testing, alternative explanations, or continued elevated surveillance based on family history alone.
You are not legally required to share genetic results with relatives. However, a positive result is medically relevant information for first-degree relatives who may want to know their own status. A genetic counselor can help you think through how to communicate results in a way that is useful and respectful.
A VUS classification can change as more evidence accumulates. A mutation classified as pathogenic (positive) may occasionally be reclassified, though this is less common. Your genetic counselor monitors updates and will contact you if a relevant reclassification occurs.
Ready to Take the Next Step?
When you are ready, a licensed genetic counselor can help you understand your options and build a clear plan.
Medical Disclaimer: This content is for informational purposes only and does not constitute medical advice. It is based on published NCCN clinical guidelines and peer-reviewed research. Always consult a qualified healthcare provider for medical decisions. LifeShield content is reviewed by board-certified genetic counselors.