ELSIcon2022 • Panel 5 • May 31, 2022
Silvia Barnoy, Efrat Dagan, Sue Kim, Maria Caiata-Zufferey, Maria Katapodi
Hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS) are monogenic hereditary syndromes caused by pathogenic variants in autosomal dominant genes, such as BRCA1 or MLH2. A significant proportion (3%-25%) of common cancers, such as breast, ovarian, colorectal, and endometrial are due to these syndromes. Both syndromes are actionable, meaning that in most cases there are available cancer prevention and risk management options. Genetic testing identifies carriers of pathogenic variants (index cases) and the presence of the same pathogenic variant in their close relatives with almost 100% accuracy. Cascade genetic screening is the process of identifying cancer-free relatives of individuals diagnosed with HBOC or LS with the goal to promote primary and secondary cancer prevention. However, due to privacy laws, clinicians cannot approach directly at-risk relatives for cascade screening, rather they delegate a medical task, namely communicating hereditary cancer risk, to index cases and request that they advocate for the use of genetic services. The panel consists of members of an international consortium that conducts cascade genetic screening studies in Switzerland, Korea, and Israel, and together have recruited more than 700 families affected by HBOC or LS. The panel will compare and contrast ethical, legal and social issues encountered in the implementation of cascade screening in the three countries.