The Neonatal Screening Project NeoGen, supported by the Compagnia di San Paolo Foundation and the Maria Teresa Lavazza Foundation, was created to identify a high number of pediatric diseases whose pre-symptomatic or early identification may affect the clinical development of the newborn.
Starting October 1st, 2023 at Turin’s Sant’Anna Hospital, it will be possible to access the innovative newborn screening program Project NeoGen.
Introduced this morning at the Regina Margherita Children’s Hospital during a dedicated event, Project NeoGen will offer the possibility to extend neonatal monitoring of genetic disorders, already available free of charge for all newborns, increasing the spectrum of analysis to about 500 pediatric diseases, compared to the 50 investigated to date.
Realized under the coordination of Prof. Franca Fagioli, Director of the Department of Pathology and Child Care at the Regina Margherita Children’s Hospital, with co-investigators from the Regina Margherita Children’s Hospital and IIGM, the Italian Institute for Genomic Medicine (https://www.iigm. it) under the leadership of Prof. Saverio Minucci, the NeoGen Project is supported by the Compagnia di San Paolo Foundation – as part of the Obiettivo Pianeta, missions Valorizzare la ricerca e Promuovere il Benessere – and the Maria Teresa Lavazza Foundation, with a contribution of 2 million euros and 700 thousand euros, respectively.
As emphasized by the Ministry of Health, newborn screenings are an important secondary intervention tool for health prevention.
These in fact allow the early detection of congenital diseases, on which it is possible to intervene early through specific and targeted therapeutic paths.
This action helps to significantly improve disease prognoses and, consequently, the quality of life of patients, preventing some serious disabilities.
The strength of the NeoGen Project lies in the extraordinary progress made on this particular type of analysis and the consequent opening to a broader set of benefits in the socioeconomic sphere, as it works to prevent the impact of a given set of diseases on the population, while fostering optimization of resources allocated to health care expenditures.
Specifically, Project NeoGen plans to extend the project to approximately 6,000 newborns. The collected samples – whose collection in no way entails additional risks for the newborn or the parents – will undergo processing at the Regina Margherita Children’s Hospital in Turin. The extracted DNA, will subsequently be investigated by IIGM, which will then perform a genetic analysis using Whole Exome Sequencing (WES).
The report produced, complete with interpretation of the results, will be sent to the multidisciplinary team of the Regina Margherita Children’s Hospital, which, in case of positivity, will be in charge of recalling the newborns and initiating the specific clinical-assistance pathway.
All infants who take part in the program will undergo a follow-up phase involving the collection of clinical information at the time of enrollment up to 3 years of age in close collaboration with the Primary Care Pediatrician (PPP).
Read the full press release at the bottom of the page.
The NeoGen project will greatly expand the diseases identifiable through newborn screening and allow early genetic diagnosis, intervening, if necessary, with "life-saving" and/or health-enhancing treatments. This is a highly innovative program that, very shortly, will be widely disseminated to babies born at Sant'Anna. With this substantial support, together with the Maria Teresa Lavazza Foundation, we want to contribute to making the Piedmont Region a promoter of a new way of doing public health, enabling the knowledge derived from the most advanced research in the biomedical field, in favor of the little ones who will be born in Turin. A concrete opportunity also for their parents, then, who will have the possibility of access for their children to a cutting-edge study made possible thanks to the skills and assets of IIGM, our instrumental body of excellence dedicated to research in genetics and genomics, and the multidisciplinary medical team led by Prof. Fagioli. In fact, the Compagnia always favors high-impact projects, capable in the health care field of concretely affecting the needs of the community and able to generate a measurable impact on the efficiency of the system and the quality of care provided.