Extended newborn screening (SNE) can help thousands of children who face very serious disabilities or premature death from rare diseases every year. This is confirmed by the results of the AstraRicerche Institute report with the ‘best practice’ experiences of two regions – Veneto and Tuscany – presented today as part of the second edition of ‘Raro chi trova’, an initiative promoted by Takeda Italia under the patronage of Italian Society of Pediatrics (Sip), Italian Anderson-Fabry Association (Aiaf), Italian Gaucher Association (Aig), Italian Mucopolysaccharidosis Association (Aimps) and Cometa Asmme, Association for the Study of Hereditary Metabolic Diseases.
The 2019 Budget Law (art.1 C. 544) – explains a joint note – establishes the inclusion of 10 metabolic diseases, including lysosomal storage diseases, in the national list of newborn screening, consequently amending Law 167/ 2016. But to date this goal has not yet found fulfillment. Still, the conditions are all there. The experiences and testimonials of clinicians, scientific societies and patient associations on the value and usefulness of extended newborn screening for lysosomal storage diseases, collected in the report conducted by AstraRicerche on pilot projects carried out by the Tuscany and Veneto regions, speak for themselves. There are various reasons why it is necessary to include lysosomal storage diseases in the ENS: the frequency of positive cases found on the over 400,000 tests carried out in the pilot projects in these regions is a strong rationale for its extension, alongside the high frequency of non-neonatal symptoms. Another significant fact is the economic sustainability. The Sne has a relatively low cost, a few tens of euros per newborn: the inclusion of lysosomal storage diseases would not change things.
The report also shows the need to review the screening model, despite the fact that the Italian system is a virtuous example, with few, but highly selected, high-tech centers and highly specialized personnel. However, the need remains to include this best practice model in a process that must serve to improve the natural history of the disease, with the parents taking charge starting from the pregnancy. The report was brought to the attention of the institutions with the aim of sensitizing them to speed up the extension of the panel of the ENS, the usefulness of which – recalls the note – is not in question. An early diagnosis can change the therapeutic approach and the patient’s life and this is especially true for lysosomal storage diseases, chronic pathologies of genetic origin that often occur in the very first years of life caused by a defect or absence of one of the enzymes contained in lysosomes.
“Newborn screening is carried out only for diseases that respond to precise characteristics: availability of a test for the same, applicability of the test to the entire population of newborns, and that they are treatable diseases – recalls Giancarlo La Marca, director of the screening laboratory neonatal hospital, Meyer University Hospital of Florence – Lysosomal diseases are the emblem of the question marks on newborn screening: there is no doubt that screening is useful, indeed necessary; but some mutations have very late manifestations and the question is whether the parents should be told that their child will have the manifestation of the disease, which could present itself even after 40 or 50 years of life.The case of the early onset forms is different, of the severe forms from childhood for which the newborn screening gives significant benefit”.
Screening consists of a test which analyzes the specific enzyme activity of each disease, followed, in positive cases, by a second confirmatory test which searches for the characteristic metabolites. The laboratories are ready: the system needs to be made more efficient. “In lysosomal storage diseases we are no longer just talking about screening, but about a screening program, as it is not just a matter of doing an analysis, but also taking charge of the patient to change the outcome of the disease definitively – he underlines Alberto Burlina, UOC director of hereditary metabolic diseases, Padua University Hospital – There is no reason not to include lysosomal diseases in the ENS: the equipment and personnel are the same, and even if specific expertise is needed, nothing it changes for the patient, nothing changes for the birth center or for the transport of organic material and for the laboratory”.
Early diagnosis is a crucial moment in the life of a person affected by lysosomal storage disease and in this sense the true potential of newborn screening, an example of a virtuous system in Italy, has yet to be fully realised. The commitment of the institutions is fundamental, just as the contribution, from the point of view of information and awareness, of initiatives such as Raro chi trova is fundamental.
“Rare diseases are Takeda’s priority – says Annarita Egidi, General Manager Takeda Italy – for this reason our company promotes the information and awareness initiative Raro chi trova, now in its second edition. We are determined to collaborate with institutions to to raise awareness of these issues and specifically to promote newborn screening. Patients with rare diseases, such as lysosomal storage diseases, are often alone and without reference points. One of the priorities in this area is to expand the list of diseases included in the current screening, guaranteeing a homogeneous application in all regions and ensuring an effective taking charge of the positive patient.For many rare diseases, the possibility of promptly starting a therapy, thanks to early diagnosis, makes it possible to greatly reduce and, in some case, to eliminate the effects of these pathologies which cause permanent and irreversible damage to the nerv system oso, intellectual, physical and developmental disabilities, leading to a reduction in life expectancy or death”.
Scientific societies and patient associations – concludes the note – therefore hope for the inclusion of ‘pending’ pathologies in the national screening panel, to guarantee all newborns the same rights, regardless of the region of birth.