Understanding genetic test results
An overview of genetic test results, how they are interpreted, and what to consider after receiving them
Genetic test results explain whether a specific change (called a variant) was identified in your DNA and how confidently its medical meaning is understood today. Results are not interpreted in isolation. They are always considered together with your personal medical history, family history and clinical findings.
Receiving genetic results can feel confusing or worrying. It is important to know that you are not expected to interpret this information on your own. Your doctor or genetic counsellor will explain what your results mean for you and, if relevant, for your family.
Regardless of the type of genetic test you had, results are reported using the same core principles. In simple terms, a genetic test result shows whether a clinically relevant variant was found and what is currently known about its relationship to health.
What types of result can I receive?
A genetic variant has been identified that is known, or very likely, to be associated with a specific health condition. This may help explain current symptoms or indicate an increased risk of developing a condition in the future.
What this does not mean:
It does not necessarily mean you will develop symptoms, or that treatment is always required.
Next steps:
Your doctor or genetic counsellor will discuss what this result means for you. This may include treatment, screening, lifestyle advice, or referral to a specialist.
How and when will I receive my results?
The time it takes to receive results depends on the type of test performed. Your care team will give you an estimated timeframe when the test is ordered.
Results are communicated through your healthcare provider. This may be during a clinic appointment, a phone call, or another agreed method. You will have the opportunity to ask questions and discuss what the results mean for you. You can also request a copy of your report for your records.
What if my results are inconclusive?
If no clearly diagnostic variant is identified, or if a result remains uncertain, this does not mean the test was unsuccessful. It means that current scientific knowledge cannot yet fully explain the findings.
Your doctor may recommend:
- Ongoing clinical monitoring
- A different or more comprehensive genetic test
- Re-analysis of your data in the future as knowledge advances
A can help you understand whether further evaluation would be useful.
Can my results change over time?
Yes. Genetic knowledge is advancing rapidly. A variant classified today as uncertain may later be reclassified as pathogenic or benign as new evidence becomes available.
regularly review genetic variants and issue updated reports when a clinically significant reclassification occurs. This is one reason why genetic results should always be interpreted with support from a clinical team.
What should I do after receiving my results?
Your next steps depend on your individual results and clinical situation. Your doctor or will guide you. Possible next steps may include:
- Referral to a specialist such as a cardiologist or oncologist
- Starting or adjusting a screening or surveillance programme
- Discussing risk-reduction or preventive options
- Informing family members who may wish to consider testing
- Considering additional or broader testing if no cause was identified
What does a positive result mean for my family?
Some genetic variants are inherited. If a variant is classified as pathogenic or likely pathogenic, biological relatives may carry the same variant, even if they have no symptoms.
Testing offered to family members is known as cascade testing. This allows relatives to understand their own risk and, if needed, take preventive or early-detection measures.
Not all genetic results require family testing. A genetic counsellor can explain whether this is relevant in your case and provide written information you may choose to share. The decision to share results with relatives is always yours.
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This page is intended for general patient education only. It does not replace advice from your doctor, genetic counsellor, or other qualified healthcare professional. Always discuss your individual circumstances with your care team.