Italy expands neonatal genomic screening and rare‑disease drug access

Italy’s rare‑disease system reports that 95% of medicines for rare conditions have been approved by the European Medicines Agency and that about 1,300 newborns undergo extended neonatal screening each year. President Annalisa Scopinaro highlighted improved data precision and noted remaining challenges in transitioning patients from pediatric to adult care.

Two Italian studies – one from the University of Trieste and another from the Vittore Buzzi Children’s Hospital in Milan – examined the impact of using whole‑exome sequencing as a first‑tier test in newborn screening. The genomic‑first approach would add roughly €50 per infant but could identify many more rare diseases, reduce false‑positive rates, and generate estimated healthcare savings of €2.2 million in the Friuli‑Venezia Giulia region. Researchers argue that integrating biochemical and genomic methods will improve early diagnosis, system sustainability, and equity of access.