Italy, which thanks to Law 167/2016 had placed itself at the forefront in Europe for newborn screening policies, ran aground on updates. In 5 years there has been no adjustment in the list of pathologies, the so-called ‘panel’, and also the last deadlines set by the Ministry of Health, with the decree establishing the working group on Extended neonatal screening (Sne), they have expired. The group, in fact, waiting to finish the evaluations on other pathologies, had meanwhile given the green light to the inclusion of the SMA (spinal muscular atrophy) in the national panel: 8 months have passed and there has been no update decree.
To date, there are at least 7 pathologies that already have all the requirements to be included in the list: in addition to SMA there are, in fact, the adrenogenital syndrome, type I mucopolysaccharidosis (Mps I), Fabry, Gaucher, Pompe and congenital immunodeficiencies. The time has come to include these in the national screening: the specialists say it, the experiences in the field confirm it and the patient associations ask for it, but to definitively sanction the entry of these pathologies into the national panel, the intervention of the institutions, and specifically an updating decree of the Minister of Health. This was discussed today during the conference “Extended neonatal screening. 2006 – 2021, 5 years of progress. Challenges and prospects for the future”, Organized by the Rare Diseases Observatory with the non-conditioning contribution of Biogen, Chiesi Global Rare Diseases, Novartis, Orchard Therapeutics, PTC Therapeutics, Roche, Sanofi Genzyme and Takeda.
Until recently the reason given for the wait was the lack of HTA studies (Health Technology Assessment) mandatory according to the original wording of the law; long studies and which, in fact, never arrived. Now, however, this obligation has dropped: in the budget law for 2022, thanks to the amendment signed by the senators Annamaria Parente and Donatella Conzatti, at the stimulus of the honorable Lisa Noja, paragraph 2 of article 4 of law 167 was repealed, which required Hta.
“There are no more reasons to postpone the update. To support the inclusion of these pathologies – he says Ilaria Ciancaleoni Bartoli, director of the Rare Diseases Observatory – there are long screening experiences, also made in Italy, which have produced abundant data and designed paths that are already efficient. If we want to remain at the forefront, the updating of the rules must closely follow scientific progress: every delay is paid dearly by the patients ”.
“The importance of having activated screening in Italy for such a large number of metabolic diseases is increasingly evident, which makes us an example for all other European countries where this test does not exist or is only for a few diseases”, he explains. Manuela Vaccarotto, vice president of the Italian association of hereditary metabolic diseases (Aismme). “In 2020, as many as 426 newborns were identified thanks to Sne, one for every 1,250 births, children to whom it was possible to ensure precocious therapies and diets that radically changed the course of the disease and the quality of their life. And this on a panel of about 40 diseases. More can be done: there are many pathologies that could be candidates to officially enter the panel. The elimination of HTA studies to evaluate access to the panel is an important step, but now we need to speed up the updating process, to give more and more children the opportunity to take advantage of new medical and scientific knowledge and avoid their disability or the death”.
The system – it emerged from the press conference – has become more efficient but one of the open questions remains that of funding: there is no absolute lack of funds but the procedure that the regions must follow to obtain them is complex and does not guarantee that they actually arrive at the structures in the end involved in the screening process. An issue that Leda Volpi of the VIII Commission ‘Environment, territory, public works’ of the Chamber is trying to modify through an amendment to the Milleproroghe decree-law. “The objective of this amendment – said the parliamentarian – is to bind the resources provided for by law 167, dedicated to newborn screening and to identify, in a short time, a mechanism for allocating these resources to the regions, in order to implement, but above all to make the Sne uniform throughout the national territory “.