THE GENOME of over 100 newborn babies and their parents will be sequenced in search of any inherited genetic diseases. Objective: to test a newborn screening program based on the most advanced technologies and molecular diagnosis, to essentially understand two things: first, if it is really feasible, second what kind of effects it would have on the health system. A project that the Telethon Foundation and the Lombardy Region – both promoters thanks to a total funding of over 715,000 – have definitively “pioneered”.
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Can genome sequencing be applied to mass screening?
The continuous progress in the field of whole genome sequencing (WGS) and the simultaneous reduction of costs has allowed their routine use in the care path of the newborn. However, these technologies carry both potential benefits and potential risks, such as false diagnoses. And they pose ethical questions. Hence the need to investigate their real applicability to mass screening programs. In fact, in several studies, the WGS has been able to provide a timely diagnosis for infants with genetic diseases in critical conditions, rationalizing and making the diagnostic process more efficient. But it is unclear what impact its wider use would have in identifying potentially treatable diseases in asymptomatic infants. Precisely for this reason, studies are needed that examine both the technical and interpretative aspects of the WGS and the organizational, ethical and socio-economic ones.
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The scientific project
The program will be managed by the Regional Foundation for Biomedical Research: the projects financed will see the Telethon Foundation itself as protagonists, in collaboration with UNIAMO Italian Federation of Rare Diseases, the ASST Papa Giovanni XXIII of Bergamo and the IRCCS San Raffaele Hospital in Milan. Maria Iascone, head of the Molecular Genetics Section of the Medical Genetics Laboratory of the ASST Papa Giovanni XXIII, will coordinate the clinical activity, in collaboration with Giorgio Casari, Professor of Medical Genetics of the Vita-Salute University of San Raffaele: the first will follow the sequencing of the genome of about 60 newborns and pairs of parents, the second will manage the sequencing of the genome and exome (the most “informative” portion of the genetic heritage) of another 50 newborns and their parents. Neonatal screening is essential to start as soon as possible a therapy capable of preventing or reducing serious consequences on the health of the newborn, significantly modifying the prognosis “, says Francesca Pasinelli, Director General of the Telethon Foundation:” Furthermore, an early diagnosis can avoid ‘ the diagnostic odyssey ‘which often involves the families of children with a suspicion of genetic disease and which in some cases can last for years, with a consequent waste of time, energy and resources, in addition to the heavy psychological implications ”.
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The bioethical issues
The path, which started in 2018, is also based on numerous bioethics studies by the members of the Lombard Forum for Research, made up of ten international experts in the field of research and innovation. “One of our strategic areas is precisely precision medicine, capable of defining responses that anticipate the onset of diseases based on the genetic and clinical history of each one”, concludes Fabrizio Sala, Councilor for Education, Research, Innovation, University and Simplification of the Lombardy Region: “This is why we have invested in this study, also addressing the ethical issues raised by the genetic screening of newborns”.
The truth can be discovered at birth
(Credits to the image: Aditya Romansa via Unsplash)
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