Genetic Testing Results Interpretation Tool
Key Points When Interpreting Genetic Test Results
- The interpretation of a genetic result depends on the context of the individual and family.
- If a patient meets clinical criteria for a genetic syndrome based on his or her medical and family history, the patient may be screened and managed according to guidelines for the syndrome, even in the absence of confirmatory genetic testing.
- When testing an unaffected relative, negative results are not fully informative unless a mutation has already been identified in the family.
- Genetic test results are not always straightforward. Be cautious with counseling and management changes when results are uninformative or VUS. In these cases, consider communicating with the lab or a genetic expert.
Possible Outcomes of Cancer Genetic Testing
Reviewed January 2020