Rare disease screening in all regions, but stopped in 2016

The expanded newborn screening program, which allows for the early detection of many potentially serious genetic and hereditary diseases, has been fully active in all regions since 2023. However, the number of diseases screened for has not been updated since 2016, despite scientific advances now allowing for many more to be detected than nine years ago. This is the update provided in the 11th MonitoRare Report, presented by Uniamo - the Italian Federation of Rare Diseases.

More than half of the regions have already expanded the panel of diseases included in screening, often on an experimental basis, however, creating disparities among residents of different regions. Hence the appeal of Maria Elena Boschi, president of the Parliamentary Intergroup for Rare and Oncohematological Diseases: "Scientific research is advancing, but the law remains stagnant," the MP commented. "Today we can diagnose many more diseases, but failure to update means giving up on preventing disabilities and saving lives. Health cannot depend on a postal code.

A national fund is needed to ensure rapid and consistent updates." Uniamo also called for an urgent regulatory change, separating the updating of the neonatal screening panel from that of the Essential Levels of Care.

The Report also highlights an improvement in Italy's international attractiveness for healthcare. In 2023, 1,250 European patients entered Italy, compared to 236 Italian patients leaving. This figure confirms the strength of the national clinical network, particularly in pediatrics and for complex conditions.

A greeting arrived from Minister for Disabilities Alessandra Locatelli, who thanked the Federation for "its ability to give voice to the concerns of people with rare diseases," and announced that at Expo AID 2026, scheduled for late June in Rimini, "there will be a specific focus on rare diseases, and Uniamo will be among the protagonists."