Genetic testing involves evaluating a gene or a set of genes in a person to identify inherited genetic mutations that may lead to risk for cancer.
Genetic testing can be performed on a blood or saliva sample, and can help a man estimate his risk for prostate cancer.
The results may inform potential treatment options for men with prostate cancer. For men without prostate cancer, genetic testing may help guide screening recommendations. If a mutation is found in a man, his family may also carry the mutation. Therefore, blood relatives may also consider genetic testing for the familial mutation to inform their cancer risk and screening.
There are three basic types of genetic test results:
Mutation or Pathogenic Variant: A change in the DNA that is associated with a disease, such as cancer. There may be management recommendations made based upon the finding of a genetic mutation depending on the gene with the mutation. These management recommendations can also be updated over time. Additional recommendations can be based upon family history. Genetic testing of blood relatives for the mutation is usually also recommended
Variant of Uncertain Significance (VUS): These are genetic changes that are not known to associate with cancer at the time they are reported to patients. There are no management changes based upon a finding of a VUS at the time of the initial report. The genetic laboratories track VUS over time for more evidence of association to cancer. Sometimes, these VUS will be reclassified to the interpretation of “mutation”. If this happens, the lab will alert the ordering provider, who will contact the patient to let them know that the variant was reclassified to a mutation. This could mean that the patient will need cancer screening, risk reduction, or treatment recommendations made. Additional recommendations are based upon family history
Negative: No mutations or VUS detected. Here recommendations are based upon family history.