“Newborn screening has been enriched in recent years thanks to scientific research that has led to more accurate and sophisticated methods. The number of diseases that can be identified is now 50, all rare, genetic/hereditary diseases”. Thus Giovanni Corsello Editor in Chief Italian Journal of Pediatrics, Sip – Italian Society of Pediatrics, speaking at the presentation of the report of the AstraRicerche Institute with the ‘best practice’ experiences of two regions – Veneto and Tuscany – illustrated today in the context of the second edition of ‘Raro chi trova’, an initiative promoted in Rome by Takeda Italia.
“In parallel with the offer of tests to identify diseases – continues Corsello – the offer of therapeutics has expanded: enzymatic therapies via infusion or genetics. Diseases that a few years ago were considered ‘untreatable’ are now ‘treatable’. As Sip we support the expansion of newborn screening, we believe that it should be further extended and that it should be the same for all children in Italy”.
And extended newborn screening (ENS) in Italy “has great preventive and strategic value – he remarks – as a secondary prevention procedure. It is a pre-clinical, pre-symptomatic diagnosis for diseases for which a dietary or therapeutic treatment is possible which leads to the return of a normal profile to those who would have a life marked by permanent outcomes and damage”. Without newborn screening, “many diseases they are in fact treatable and lead to disabling results: screening allows you to treat before the onset of symptoms or when they first appear. Neonatal screening has been enriched in recent years thanks to scientific research which has led to more accurate and sophisticated methods,” he concludes.