Rare diseases, La Marca (Meyer: “With law 167 fully operational newborn screening system”

“Surely law 167 has given the Italian newborn screening system the possibility of starting to reach full capacity. The system has become more efficient, but the financing mechanisms must be changed”. Thus Giancarlo La Marca, director of the enlarged neonatal screening laboratory, Aou Meyer of Florence, and former president of the Italian Society for the study of hereditary metabolic diseases and screening, who spoke at the conference ‘Extended neonatal screening. 2006-2021, 5 years of progress. Challenges and prospects for the future ‘, organized by the Observatory for rare diseases. “Before the entry into force of law 167 – recalls La Marca – two speeds of the screening system were evident, with regions completely uncovered and regions very avant-garde even at the international level. The first objective of the law was to achieve uniformity of application of the program throughout the territory, eliminating the disparities actually present. Today we can say with certainty that this uniformity has been achieved. A second important objective of the law was the rationalization of service costs for the execution of screening tests, which were previously carried out in over 30 laboratories serving 20 regions. By 2021 this number has been reduced by 50%: the operational screening laboratories, thanks to interregional agreements, have become 15. Furthermore, we also have a congruent number for biochemical diagnostic confirmation laboratories and genetics so that each family knows, once the diagnosis has been made, who should follow the child and where. This will become an even more pressing problem with the introduction in the panel of pathologies that are not only more technically metabolic, I cite for example the immunology centers for Scid “, severe combined immunodeficiencies. For La Marca, the really painful note” is the lack of a specific funding for the national screening program. It was a great success in public health to include the screening path in Lea, however also the funding associated with the screening path is hinged in the Lea system and therefore indistinct and indistinguishable in daily practice “.” In practical terms – notes the expert – there was no real economic funding for the regional screening system (except in the start-up phase thanks to the financial laws), and therefore to fall on the laboratories (screening and confirmation) and least of all on the clinical path. Therefore, the implementation and / or technological updating of many laboratories, the structuring of technical and precarious medical staff, the hiring of new professional figures (laboratories, dedicated nurses, doctors, experts in dieticians, psychologists) often remain in daily life , administrative staff) left to the care of the individual hospitals “. La Marca is happy with the” very good results obtained so far; however, I am also convinced – he specifies – that obtaining real excellence and uniformity of the program, especially in anticipation of the extension of the panel, can only pass from ad hoc funding “.