Definition

A systematic process for the identification of individuals within a family at risk for a hereditary condition. Cascade screening begins with finding a pathogenic/likely pathogenic variant through broad-based testing (such as full gene or multigene panel testing) in one family member, usually affected with the condition. Then, testing just for the specific family variant is extended to at-risk biologic relatives. This process is repeated as more affected individuals or pathogenic variant carriers are identified. Cascade screening is sometimes referred to as cascade testing (preferred term).