Public Lecture Pioneering Genetic Newborn Screening: The SCREEN4CARE Project

SCREEN4CARE is an Innovative Medicines Initiative project funded by the European Union, aiming to accelerate the diagnosis of rare diseases through two central pillars: genetic newborn screening and digital technologies. The genetic newborn screening seeks to supplement existing newborn screening programs by incorporating advanced genetic technologies. For inclusion in the screening, we selected genetic diseases based on six key criteria: treatability, clinical validity, age of onset, disease severity, penetrance, and genetic feasibility. This selection process involved an automated scoring system followed by expert review. The final set of 245 genes will be presented. Additionally, the concept of screening for a broader set of diseases considered ACTionable will be discussed. The TREATpanel will be tested in approximately 20,000 newborns, contributing to the growing body of evidence for the implementation of next-generation sequencing (NGS) in newborn screening programs.