NCI Dictionary of Genetics Terms

The NCI Dictionary of Genetics Terms contains technical definitions for more than 200 terms related to genetics. These definitions were developed by the PDQ® Cancer Genetics Editorial Board to support the evidence-based, peer-reviewed PDQ cancer genetics information summaries.

cascade screening
(kas-KADE SKREE-ning)
A systematic process for the identification of individuals at risk for a hereditary condition. The process begins with the identification of an individual with the condition and/or a pathogenic variant associated with the condition and then extending genetic testing to his/her at-risk biologic relatives. This process is repeated as more affected individuals or pathogenic variant carriers are identified. This process is sometimes referred to as cascade testing (preferred term).