Pathogenic

A positive test result indicates that a pathogenic (disease causing) variant was identified in a specific disease-associated gene. This finding confirms an underlying genetic cause for the patient’s symptoms and provides a molecular diagnosis for a specific genetic disorder or indicates an increased risk for developing a genetic disorder.

Knowledge of specific pathogenic variant(s) is significant to the patient, patient’s healthcare providers and family members as it helps to determine the recurrence risk, and to develop medical management and surveillance plan. Such a plan may include life style modifications, preventative medications, surgical or other measures or enhanced surveillance. A positive result allows targeted testing of at risk relatives and to address the recurrence risk of the disorder in future offspring.

LIKELY PATHOGENIC

A likely pathogenic result indicates that in a gene associated with a specific disease there a genetic variant(s) was identified for which there is significant, but not conclusive evidence of its pathogenicity. With this type of results, medical management, surveillance and follow up options and testing of family members are similar or identical as described above for a positive result.

Negative or VUS (variant of uncertain significance)

When an individual tests negative for a pathogenic variant that was previously identified in another family member with a disease, this is considered a ‘true’ negative test result. In most cases this means that the individual has no greater risk for developing the specific genetic disorder that runs in the family than anyone in the general population.