A genetic identity card to diagnose 300 diseases is born in Apulia

From cystic fibrosis to myasthenic syndrome. And then, diabetes mellitus, immunodeficiency, Silver-Russel syndrome. There are 300 genetic diseases that from now on will be diagnosed at birth in Apulia with a screening, by taking blood from the heel, that concerns 407 genes. Thanks to Regional Law 31 of 2023, the region led by governor Michele Emiliano is the first to launch the genetic identity card, with funding from the Genoma Puglia experimental research project.

The project will initially cover three thousand babies (1,500 per year) until 2025. 'The next step,' says Fabiano Amati, regional councillor for Azione and promoter of the law, 'will be the extension of the project to all babies and all birth points, because otherwise there would be a serious problem of injustice and democracy. The genetic diseases for which screening is planned have been selected on the basis of age of onset, significant mortality risk, available therapeutic treatments and effectiveness of early diagnosis. Or to promptly define the best course of care. All conditions in which early knowledge can lead to a positive change in the natural course of the disease. As far as disease categories are concerned, 43% are metabolic, followed by endocrinological (20%),haematological (12%), neurological (7%) and finally immunological (6%). "In essence," Amati continues, "we are talking about the partial mapping of the genome, making use of the most advanced genetics in the world.

Tests can only be carried out on a voluntary basis, with the informed consent of the parents. The method developed, after blood sampling, involves the preparation of 'genomic libraries' of samples, with sequencing on high-performance equipment. Technologies that allow many cases to be sequenced simultaneously in a short time. Once the first analytical step has been completed, the sequences are aligned to a reference genome to identify where there are variants. The procedure is due to the medical genetics laboratory of the Di Venere hospital of the Bari health authority, which refers to various international studies, including - in the United States - BeginNGS, which showed a reduction in diagnosis time of 73 days compared to postnatal genomic sequencing in the presence of clinical evidence. The birth of the genetic identity card entails, in this first phase, an investment of about two million euros by the Region, including equipment, reagents, hardware and software systems for data analysis and storage, in addition to the expenditure on healthcare personnel involved in screening, including biologists and biotechnologists.