Abstract
The availability of multigene cancer panel testing (MCPT) has revolutionized the care of individuals and families at risk for hereditary cancer. This review discusses fundamental components of genetic counseling, test selection, result interpretation, and follow-up related to MCPT. Routine use of MCPT increases the diagnostic yield for major hereditary cancers such as breast, ovarian, and colon, with the identification of pathogenic variants in high- and moderate-penetrance genes. In addition, the larger the panel, the more likely one or more variants of uncertain significance will be identified. Furthermore, although index cases who test negative after multigene panel testing may derive some reassurance about hereditary risk, assessment and management based on personal and family history are the keys. Given the complexity of MCPT, pre- and post-test genetic counseling approaches have been adapted to optimize the delivery of information and support to patients and their families.
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