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Results Interpretation & Application Toolkit

Interpretation of results

Key Points when Interpreting Genetic Testing 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 should be screened and managed according to guidelines for the syndrome, even in the absence of confirmatory genetic testing. When testing an unaffected relative, negative or VUS 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 genetics professional.

Possible Outcomes of Genetic Testing Table for Child Neurologists


Clinical Presentation of Person to be Tested Affected or symptomatic Genetic Testing Result Positive (One dominant or two recessive mutations identified) Negative (No dominant mutations found, one or no recessive mutations identified) Variant of unknown clinical significance Interpretation True positive. Diseasecausing mutation identified. Test confirms clinical diagnosis. Genetic testing does not rule out the diagnosis or a genetic cause of the disease. Genetic testing at this time is uninformative. Recommendations for Family Members Mutation-specific testing of first-degree family members is strongly recommended. Those with positive results are at risk for developing the disease. Testing of family members not indicated. However, clinical follow-up testing is recommended. If symptomatic family members are found to have the same variant, it is more likely that the variant is disease causing. If family members who do not have symptoms have the same variant, it could be benign. Testing of family members is recommended. Those with negative results are not at an increased risk for the disease. Testing of family members is not indicated. If symptomatic family members are found to have the same variant, it is more likely that the variant is disease causing. If family members who do not have symptoms have the same variant, it could be benign.

Affected or symptomatic

Affected or symptomatic

Unaffected or asymptomatic

Positive

Patient is at risk for developing the disease.

Unaffected or asymptomatic Unaffected or asymptomatic

Negative

Variant of unknown clinical significance

Patient is likely not at increased risk for the disease. Genetic testing at this time in uninformative.

Published October 2013 NCHPEG All rights reserved

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