Genetic Testing for Polyposis Syndromes

Colorectal cancer is the third most common cancer diagnosed in the United States with up to 3% of cases being attributable to a hereditary polyposis syndrome. Established diagnostic and/or testing criteria exist for many of the recognized polyposis syndromes and are an important tool in guiding physicians in the identification of individuals who may benefit from referral to a cancer genetics service for hereditary cancer risk assessment. A formal hereditary cancer risk assessment supports fulfillment of obligations for standard of care, as well as minimizes the negative outcomes that may occur in the absence of informed consent for genetic testing. The implications of a diagnosis may extend beyond the individual patient to include at-risk relatives, and as such, much emphasis should be placed on identifying the most informative individual in a family in which to initiate testing. Advances in our understanding of genes associated with hereditary polyposis and the increasing use of testing that relies on next-generation sequencing technologies may lead to the increased likelihood of a genetic diagnosis; however, in those individuals without a genetic diagnosis whose histories remain concerning for hereditary polyposis, knowledge of family history may inform strategies for early detection and prevention.