Neonatal screening: the example of Veneto and Tuscany for lysosomal storage diseases
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Two pilot projects, in Veneto and Tuscany, are enough to demonstrate how valuable extended newborn screening can be. In these two regions, 400,000 newborn screenings were carried out, also extended for lysosomal storage diseases. According to experts, this is the largest case study in Europe. Thus it was seen that there is one affected newborn for every 4,000 born: for these children it was possible to start a complex therapeutic path, yes, but effective precisely because it was early. So why not extend the ‘best practice’ of these two regions to the rest of Italy, especially since the 2019 budget law establishes the inclusion of 10 metabolic diseases, including lysosomal storage diseases? Clinicians and patient associations discussed it during the second edition of ‘Raro chi trova’, an initiative promoted by Takeda Italia under the patronage of SIP (Italian Society of Pediatrics), AIG (Italian Gaucher Association), AIMPS (Association Italiana Mucopolysaccharidosis), AIAF (Italian Anderson-Fabry Association) and Cometa ASMME (Association for the Study of Hereditary Metabolic Diseases).
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What is newborn screening
Expanded Newborn Screening (ENS) can help thousands of children who experience severe disability or premature death every year. 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. Screening consists of a test which analyzes the specific enzymatic activity of each disease followed, in positive cases, by a second confirmatory test which searches for the characteristic metabolites. “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”, he declares Giancarlo LaMarca, director of the Expanded Neonatal Screening Laboratory, Meyer University Hospital of Florence. “The test must be carried out within 72 hours of birth, the nurse collects the swab which consists of a drop of blood, the analysis is carried out by technical personnel with specific training and the result is available after 48-72 hours”.
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The risk of false positives
Unfortunately, there is the risk of possible false positives: “The second tier test, done from the same spot of original blood, for which a second blood sample is not needed – reassures La Marca – greatly increases the diagnostic specificity, reducing false positives. 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 parents should be told that their child will have the manifestation of the disease, which could occur even after 40 or 50 years of life. Different is the case of early onset forms, severe forms from infancy for which neonatal screening gives a significant advantage”.
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The AstraRicerche report
The need to extend newborn screening to these diseases also emerges loud and clear from the Report conducted by the AstraRicerche Institute which collected data, experiences and testimonials from clinicians, scientific societies and patient associations on the value and usefulness of extended newborn screening ( SNE) for lysosomal storage diseases, analyzing the results of the pilot projects carried out by the regions of Tuscany and Veneto, which have become a paradigm of “best practice” in this area. “The evidence is clear on why it is necessary to include lysosomal storage diseases in the ENS,” he points out. Cosimo Finzi, director of AstraRicerche. “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”. The Report was brought to the attention of the Institutions with the aim of making them aware of accelerating the extension of the extended newborn screening panel.
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Economic sustainability
But then, given that the legislative conditions are in place and awareness of the need is wide, why are lysosomal storage diseases still not included in extended newborn screening: is there a cost problem? “Extensive newborn screening has a relatively low cost, a few tens of euros per newborn, the inclusion of lysosomal storage diseases would not change things”, he replies Alberto Burlina, UOC director of Hereditary Metabolic Diseases, University Hospital of Padua, who adds: “There is no reason not to include lysosomal diseases in extended newborn screening: the equipment and personnel are the same, even if the expertise is needed specific, nothing changes for the patient, nothing changes for the birth center or for the transport of organic material and for the laboratory. There are certainly not a few diseases that change the costs, as we currently have screening for 50 diseases. A few selected Centers are needed, which have a pool of births of at least 60,000 a year. For genetic diseases, the keyword is not simply diagnosis but prevention”.
The importance of an early diagnosis
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 is fundamental, thanks to initiatives such as Raro chi trova. “Extended newborn screening 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 results and damage”, he declares Giovanni Corsallo, Editor in Chief Italian Journal of Pediatrics of the Italian Society of Pediatrics. “Without neonatal screening many diseases are in fact not treatable and lead to disabling outcomes: screening allows you to treat before the onset of symptoms or when they first appear. Newborn screening has been enriched in recent years thanks to scientific research that has led to more accurate and sophisticated methods. At the same time, the range of therapies has expanded: enzyme 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”.
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