Adnkronos Rome, October 14 (Adnkronos Salute) – Puglia has achieved a world first in public healthcare: starting April 16, 2025, 'Genoma Puglia' will be operational, the world's first neonatal genomic screening program accessible to all birth centers and free for all families. The project, carried out at the Medical Genetics Laboratory of the 'Di Venere' Hospital, Bari Local Health Authority, uses cutting-edge equipment and the most advanced sequencing techniques (NGS), starting from a simple drop of blood taken from the newborn's heel (DBS).
From here, and very quickly (up to 384 samples can be processed simultaneously), it is possible to identify up to 500 rare genetic diseases early – with the informed consent of the parents – thus offering young patients and their families better life prospects by accelerating prognosis, treatment and, where possible, achieving a complete recovery.
Revolutionary preventive medicine, therefore, encompasses early diagnosis—identifying rare diseases even in the asymptomatic stage—to rapid intervention, ensuring timely management and treatment. It also extends testing to family prevention, as in some cases, reproductive risks are identified for parents as well. The program, according to a press release, began with a pilot project, approved by regional law in 2023 and launched in June 2024. In the first phase, the project involved approximately 4400 newborns, identifying rare genetic diseases in over 3% of cases and enabling diagnoses that significantly improved the life expectancy and quality of life for over 150 children.
Building on the success of the pilot project and thanks to a further €5 million investment from the Puglia Region, genomic screening has been extended to a structured, free, and accessible service for all newborns in the region's 24 neonatal units. To date, samples have been collected from over 9500 newborns, with an average compliance rate exceeding 90%. Over 8000 cases have already been analyzed, and 242 newborns with rare genetic diseases have been identified, with subsequent initiation of the surveillance and care phase.
"The real challenge we overcame was to create an automated workflow that operates under a pseudonymized system," explains Mattia Gentile, director of the Medical Genetics Unit. "The same barcode identifies the newborn from the heel blood sample (DBS) to the final report. All 24 neonatal units in the region are connected to our laboratory via a cloud-based platform. The analytical system complies with European privacy regulations, and data is protected in accordance with the regulations of the National Agency for Cybersecurity."
But how does it work? It uses "Dried Blood Spot" (DBS) cards, special absorbent papers on which drops of capillary blood are collected, taken, in the case of newborns, from the heel. This sampling method—the press release states—is already used for laboratory diagnostic tests, such as mandatory newborn screening—which today includes up to 48 pathologies, primarily metabolic, in the so-called super-extended screening. It is a safe system, easily transportable, and without the risk of sample deterioration.
An all-Italian achievement, as Simone Gardini, CEO of GenomeUp Srl, the company that developed the software to manage all the delicate technological steps, explains: "Newborn genetic screening represents a unique revolution that will profoundly transform the diagnosis of genetic diseases: we are approaching a turning point where whole-genome sequencing in the first 48 hours of life is becoming a reality, marking a change in every sector, starting with medicine and healthcare. GenomeUp is ready to accompany this revolution, providing its technology, experience, and vision to support the healthcare system, researchers, and families, helping to build a future in which every newborn can benefit from the opportunities offered by next-generation genomics." With the 'Genoma Puglia' program, the Region is positioning itself as a model of international excellence, making the most advanced preventive and precision medicine techniques available to public services.