The Puglia region has set a global milestone in public healthcare: since April 16, the “Genoma Puglia” program has been operational – the world’s first neonatal genomic screening program that is both publicly available and free for all families.
The initiative, carried out at the Medical Genetics Laboratory of the “Di Venere” Hospital, ASL Bari, uses cutting-edge sequencing technology (NGS) starting from a single drop of blood collected from the newborn’s heel (DBS). With the capacity to process up to 384 samples simultaneously, the program can identify, with parental consent, up to 500 rare genetic disorders. Early detection allows for faster diagnosis, treatment, and in some cases, a path toward full recovery.
During the initial phase, around 4,400 newborns participated, with over 3% found to have rare genetic conditions, improving the prognosis and quality of life for more than 150 children. Building on this pilot success, the Puglia Region invested an additional €5 million to make the screening a permanent, free service accessible to all newborns across the region’s 24 neonatal units.
So far, samples from over 9,500 newborns have been collected, with an average participation rate exceeding 90%. More than 8,000 cases have been analyzed, identifying 242 infants with rare genetic conditions, who have since entered monitoring and care programs.
“The real challenge we overcame was creating an automated workflow that operates in a pseudonymized way,” explains Mattia Gentile, Director of the Medical Genetics Unit. “A single barcode tracks the newborn from heel-prick collection to the final report. All 24 neonatal units are connected to our lab via a secure cloud platform. The analytical system fully complies with European privacy regulations and national cybersecurity standards.”