All in all, we can’t complain: first in Europe and second in the world behind the United States, for the number of pathologies included in newborn screening. 48 rare and debilitating diseases for which it is possible to receive timely treatment in our country, which concretely change the lives of the young patients who are diagnosed. Precisely for this reason, however, we cannot rest on our laurels: we can, and must, do more, updating as soon as possible the panel of pathologies sought at birth, to make room for 10 other diseases which today, thanks to the progress research, meet the criteria recognized by the Italian legislation for inclusion in newborn screening. This is the appeal launched by experts and patient associations gathered this morning in Rome on the occasion of the conference “Extended neonatal screening: the goals achieved, the unresolved problems and the opportunities for the near future”, organized by theRare Disease Observatory – OMAR (l’event can be reviewed on the association’s Facebook channel).
The 10 more diseases
The update had to be done by the Ministry of Health by June 2021, to keep up with the arrival of new therapies and new diagnostic tests that make diseases that previously left no hope curable, by intervening early. At the end of 2020, in fact, there were 7 pathologies that met these criteria, but were not yet included in the newborn screening panel. Today, according to the evaluations of the experts who drafted the Sne notebook, the number has already risen to 10: in addition to Fabry, Gaucher, Pompe diseases, mucopolysaccharidosis type I (MPS I), spinal muscular atrophy (SMA), ADA immunodeficiency –SCID and X-linked adrenoleukodystrophy (X–ALD), which already had all the credentials in 2020, now there are also PNP–SCID immunodeficiency, the other immunodeficiencies detectable with TREC/KREC tests and adrenogenital syndrome. According to the experts, there are also 8 other diseases to be monitored for a possible future inclusion.
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It is therefore evident that research is proceeding quickly, and it is the duty of the institutions to keep pace, to guarantee all Italian children the right to promptly receive the best possible care, regardless of the region in which they are born. “Every day of delay in the implementation of the law 167/2016 can cost the life or health of one of them”, recalls Ilaria Ciancaleoni Bartoli, Director of the Rare Disease Observatory, who moderated today’s meeting. “The deadline for the update has long passed. We know that the Ministry’s technical table has done a great job in this last period and we hope that Minister Schillaci will immediately take note of it and transpose it into a decree, and that the subsequent updates will then proceed more quickly “.
The case of Sma
An emblematic case is that of Sma, spinal muscular atrophy: “At a national level, the situation is still three years ago”, denounces Daniela Lauro, vice president of Famiglie Sma: “Yet, despite Covid, since then almost all regions have they are organized on their own to offer screening and treatment which today is based on three therapies. We therefore ask ourselves what is the impediment to offering the same possibility of life to anyone born today in Italy. We can not wait anymore”.
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Screenings in the different Regions
Out of 20 Regions, to date 16 have autonomously activated at least one program. At the top of the list is Puglia with 10 more pathologies than the national panel; followed by Abruzzo (7), Veneto, Friuli Venezia Giulia and Tuscany (5), Trentino (4), Lombardy and Liguria (2), Piedmont, Valle d’Aosta, Lazio, Campania and Sicily (1). To these are added the pilot projects in the start-up phase: 7 in Lombardy, 2 in Tuscany and 1 in the Marche, Campania and Basilicata. No active projects, nor forthcoming projects at the moment, in Emilia Romagna, Umbria, Molise, Calabria and Sardinia. However, it must be remembered that many of these projects are experimental or to be reconfirmed: only Puglia (for all 10 diseases), Triveneto and Tuscany (for 4 diseases), Lazio (for SMA) and Lombardy (for SCID ) have permanently included them in the panel with a regional law.
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Not an exam, but paths to take charge
The inclusion of new pathologies in the neonatal screening panel is obviously not so much a goal as the beginning of a process. New therapies and innovative diagnostic possibilities are not present a priori throughout the national territory, and proper management of the available funds is needed to guarantee the updating and efficiency of the network of diagnostic laboratories and therapeutic centers scattered throughout the Italian regions, aiming to have a smaller number of centers, but with more resources, cutting-edge and trained staff. “Law 167 is a flagship of our country and many steps forward have been made in recent years, but we can and must still improve”, underlines Giancarlo la Marca, Director of the Company’s Expanded Neonatal Screening Laboratory Meyer University Hospital of Florence. “The laboratories have gone from the initial 30 to 15, covering an average of 25,000 births each. However, the optimal coverage would be 60,000 newborns, and therefore efficiency can still be improved”. The funds are there, but also in view of an enlargement and the probable need to adopt new technologies and trained personnel, it is necessary to ensure that the funding provided for in the LEA actually reaches the structures that deal with the screening process. To date, these loans reach the Regions in an indistinct fund that is not tied to the purpose, Marca explains: “It would be appropriate, for the future, to identify a mechanism that guarantees the specific allocation of funds to the newborn screening process. This is an important and necessary prerequisite to guarantee a qualitatively satisfactory level of screening, with dedicated personnel, and a uniform service throughout the territory, especially in view of a forthcoming expansion of the panel”.
The second SNE Notebook
During the conference, the second edition of the “Extended Neonatal Screening (SNE) Notebook – Perspectives for the extension of the panel”, created by OMAR with the patronage of the Telethon Foundation (the first was in 2020): the report contains the detailed analysis of the situation of screening in Italy and of 35 diseases, including an endocrinological disease, adrenogenital syndrome, thalassemia and sickle cell anemia (or sickle cell disease). For each, the results of the discussions of the working tables are reported, with indications in favor of an evaluation for inclusion in the Italian neonatal screening panel, ‘in favor with reserve’ or “in favor of a reevaluation shortly” due to the possibility that some requirements may change. The objective of this second SNE Notebook is to collect the various regional screening experiences, update the data and collect further ideas for subsequent updates. Precisely for this reason the Notebook must be considered an ‘Open Document’, as the authors write: a continuously updated document that shows the progress made and outlines the future prospects of neonatal screening in Italy, Europe and the rest of the world.