What are the possible results from genetic testing?

A positive result means that a genetic change associated with the disease has been found. Depending on the gene, this result may have a small or large impact on your risk of disease. A negative result means that no genetic change associated with the disease has been found.

A negative result does not completely eliminate the chance that you have an inherited risk for a disease, it simply means that we were not able to identify a genetic risk factor based on the genes tested at this time.

A variant of uncertain significance (VUS) is a genetic change which has uncertain meaning. While some genetic variants are considered harmful, or disease-causing (also called pathogenic), other variations in genes are considered non-harmful and do not cause a genetic condition (also called benign). A VUS means that there is not enough available information regarding a particular variant to know if it is disease-causing or not. Generally, medical management and family risk assessment should not be based on a VUS test result alone. This type of result cannot independently confirm or provide a diagnosis and should be considered along with a patient’s clinical and biochemical profile. While it’s common for a variant to be considered a VUS at the time of a person’s genetic test report, it is possible that more information/evidence regarding the variant may become available over time, as more individual’s have genetic testing including the gene and potentially more research is published. Your genetic counselor can review any additional pertinent details about a VUS on your test report in relation to your medical and family history details.