Genetic Testing for Lynch Syndrome And Other Inherited Colon Cancer Syndromes - 5/26/17

The evidence for genetic testing for the adenomatous polyposis coli (APC) mutation in individuals with a clinical differential diagnosis of attenuated familial adenomatous polyposis (aFAP), MUTYHassociated polyposis and Lynch syndrome, or individuals who are at-risk relatives of patients with FAP, includes a TEC Assessment. Outcomes of interest are overall survival, disease-specific survival, test accuracy and test validity. For patients with an APC mutation, enhanced surveillance and/or prophylactic treatment will reduce the future incidence of colon cancer and improve health outcomes. A related familial polyposis syndrome, MUTYH-associated polyposis (MAP) syndrome, is associated with mutations in the MUTYH gene. Testing for this genetic mutation is necessary when the differential diagnosis includes both FAP and MAP, because distinguishing between the two leads to different management strategies. In some cases, Lynch syndrome may be part of the same differential diagnosis, depending on presentation. The evidence is sufficient to determine quantitatively that the technology results in a meaningful improvement in the net health outcome.