Genetic Newborn Screening and Digital Technologies Protocol

This document is a project protocol detailing the Screen4Care (S4C) initiative, which aims to enhance genetic newborn screening (gNBS) through the integration of artificial intelligence and digital technologies. The project is a collaborative effort involving the European Union Commission and the European Federation of Pharmaceutical Industries and Associations, focusing on a large population of approximately 25,000 infants across Europe. The protocol outlines the use of targeted sequencing for initial screening, with whole genome sequencing available for infants who show early symptoms despite negative results from targeted tests. The initiative aims to establish a framework that is equitable, ethical, and sustainable, addressing the legal, ethical, and social complexities associated with gNBS. The document emphasizes the importance of early diagnosis in rare diseases, which are predominantly genetic, and discusses the potential for AI algorithms to improve patient identification and care through the utilization of Electronic Health Records. The project seeks to contribute to the reduction of the diagnostic odyssey faced by individuals with rare diseases.