EP514: Extending cascade screening using genealogy, DTC genetics and social media – the ConnectMyVariant exploratory pilot study

Abstract

Cascade testing in families with syndromes associated with preventable disease, such as Lynch syndrome and Hereditary Breast and Ovarian Cancer syndrome, is cost-effective and endorsed by national and international organizations. However, cascade testing uptake in the United States is low. Hereditary cancer risk variants are often family specific, having arisen from a relatively recent ancestor. Many research studies have connected families with the same rare pathogenic variants, creating very large multi-generational pedigrees, but to our knowledge this strategy has not been implemented systematically as a public health activity.