The feasibility of neonatal genomic screening as an opportunity for the early diagnosis of genetic diseases in asymptomatic newborns: this is the objective of the Rings project, presented in Milan, at the meeting organized by the Lombardy Region and the Telethon Foundation. The project will be able to provide indications regarding the introduction of Whole Genome Sequencing technologies in the regional healthcare system, which allow obtaining the entire, or almost entire, sequence of an individual’s DNA.
The management of the program, in partnership with Uniamo Italian Federation of Rare Diseases and Asst Papa Giovanni XXIII of Bergamo, was entrusted by the Lombardy Region to the Regional Foundation for Biomedical Research. “We participated in this project by making use of our experience in analyzing the genome in the diagnostic-genetic path of children affected by rare genetic diseases”, says Maria Iascone, head of the Medical Genetics Laboratory of the Papa Giovanni XXIII Asst. “Despite the limited evidence on the feasibility of mass genetic screening, the Rings study – she adds – emerges as an indication of the opportunity to use whole genome sequencing more often on patients with already established disease.
In the future, this will save many patients from long and exhausting diagnostic odysseys.”
However, the implementation of a neonatal genetic screening program for all newborns in the Lombardy Region requires further investigation. “To be able to make a decision on genetic screening you need to be informed and trained, you cannot act and legislate on the wave of emotional pressure”, observes Eva Pesaro, vice president of Uniamo. For Francesca Pasinelli, managing director of the Telethon Foundation, “the sequencing of the neonatal genome allows us to anticipate the identification of a broad spectrum of rare genetic diseases and therefore to intervene early. Rings was set up as an open and participatory process to explore all the implications of potential mass newborn screening”.
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