Launched in 2021 via a major public-private consortium in Europe, Screen4Care is a 5-year research project to evaluate the potential of next-generation sequencing (NGS) and digital tools to improve newborn screening (NBS) systems, accelerate the diagnosis of rare genetic diseases, and ultimately link patients with treatments or interventions that can drive better health outcomes.

After years of planning, the project is now in the ‘critical phase’ of launching its screening programme and testing a 245-gene NGS panel with an initial cohort of at least 18,000-20,000 newborns across several European countries. Lab operations for the study will be concentrated at Ospedale Pediatrico Bambino Gesù (OPBG) in Rome, Italy, one of the leading paediatric medical centres in Europe.

To learn more about this project, Lab Insights spoke with Prof Alessandra Ferlini, a medical geneticist who serves as the overall Scientific Coordinator for Screen4Care, and Dr Enrico Bertini, a paediatric neurologist who serves as Principal Investigator at the OPBG site. In this Q&A with Dr Michela Zuccolo, Global Gene Therapy & Rare Strategy Lead at Roche, they share key updates on the study and thoughts on the future of NBS in Europe.