Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes

Cascade genetic testing is the process of extending genetic testing to at-risk blood relatives of individuals (called “probands”) found to carry cancer predisposition germline pathogenic gene variants. Cascade testing is critical as relatives found to carry a pathogenic gene variant have the opportunity to pursue targeted cancer risk reduction and early detection, decreasing cancer-associated morbidity and mortality. The Centers for Disease Control and Prevention Office of Public Health Genomics has designated cascade genetic testing as a tier one genomic application for Hereditary Breast and Ovarian Cancer and Lynch syndrome. Mathematical modeling suggests that the combination of germline genetic testing at time of cancer diagnosis with subsequent cascade testing of at-risk relatives has the potential to identify all individuals with a cancer predisposing pathogenic variant in the United States in less than a decade. However, our recent systematic review published in the Journal of Clinical Oncology demonstrates that only about a third of at-risk relatives undergo recommended cascade testing.

Other Information

Published in: European Journal of Human Genetics
License: https://creativecommons.org/licenses/by/4.0
See article on publisher's website: https://dx.doi.org/10.1038/s41431-023-01364-2