Genetics for Early Disease Detection and Intervention (GEDDI)

Millions of individuals could benefit from early disease detection and intervention, facilitated by a closer partnership between clinical medicine and public health. Genetics for Early Disease Detection and Intervention to Improve Health Outcomes (GEDDI) is a collaborative initiative funded by the CDC's Office of Public Health Genomics that analyzes and initiates a systematic approach for detection and intervention using clinical, genetic, and family health history information. The GEDDI Working Group has developed a white paper that explores a paradigm shift in the use of genetic testing for early disease detection. The working group also evaluated the nuances of applying existing criteria developed by the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children, to conditions that would be appropriately screened for at different life-stages. Hearing loss, Familial hypercholesterolemia, Lynch syndrome and Duchenne muscular dystrophy are the four exemplar conditions the group selected to highlight the challenges and opportunities of life-stage and cascade approaches to screening. For the session, we will discuss the challenges and opportunities of life-stage and cascade approaches to screening. We will also present plans for large-scale initiatives that will address the infrastructure gaps hindering the successful implementation of these screening approaches.