The ‘genetic identity card’ project will start on June 18th in Puglia. The news was given by Fabiano Amati, president of the regional budget and planning commission. Fabiano Amati, promoter and first signatory of the regional law on the Puglia Genome. The initiative involves the screening of 3,000 newborns (1,500 per year), delivered in the most important birth centers in terms of cases, “with the aim of extending it to all newborns and all birth centers”.
“The project – explains Amati – consists of examining 407 genes, with a drop of blood taken from the heel, to diagnose 300 genetic diseases early, selected by age of onset, significant mortality, available treatments and effectiveness of early diagnosis on the better care path. In short, conditions for which knowledge leads to the mutation, in positive terms, of the natural history of the disease.
The initiative, “which essentially consists of the partial mapping of the genome to avoid ethical problems, is the most advanced in the world in genetic matters, placing Puglia among the first places in the world where it takes root this novelty. The next step will be to extend the project to all newborns and to all birth points, since otherwise a serious problem of injustice and also of democracy would arise: medical genetics and its revolution pose In fact, there are serious problems of democracy if not all citizens can benefit from it. This is the reason why an advanced region like Puglia and the other regions, some more or less, backward, cannot exist.”
“This time too – adds Amati – I want to thank the Di Venere Medical Genetics Laboratory, Mattia Gentile and his staff – we are among the most efficient regions thanks to them -, and the ASL of Bari for the additional technological set-up procedures, in particular Giuseppe Volpe, and for the service rendered to all of Puglia. With Regional Law n.31 of 2023, the Puglia Region has approved the financing of an advanced research project which concerns the possibility of expanding genetic screening to 300 monogenic Mendelian genetic diseases (407 genes) and therefore further improving the capacity for early diagnosis already on the newborn. The main selection criteria for the diseases to be investigated are based on: early age of onset, significant morbidity/mortality, available treatments, proven effectiveness of early diagnosis on the best/correct care path”.
“The project, indicated in the law as Puglia Genome, aims to verify on a sample of approximately 3,000 newborns (1,500 newborns/year) whether this investigation can be carried out through DNA extraction from DBS punching and NGS analysis. It should be underlined that in this area there are several important projects underway in the United States (BabySeq), in England and in the EU (Screen4Care https://screen4care.eu/). The goal is to bring Puglia up to speed with this exciting prospect of diagnosing earlier to treat better Unlike mandatory screening, this is a research project for which participation is on a voluntary basis and consent is required.”
