“Finally we’re leaving. The genetic identity card project will be launched in Puglia from 18 June. We start with 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”. This was declared by the president of the Regional Budget and Planning Commission Fabiano Amati, promoter and first signatory of the regional law on the Puglia Genome.
The project consists of examining 407 genes, with a drop of blood taken from the heel, to early diagnose 300 genetic diseases, selected by age of onset, significant mortality, available treatments and effectiveness of early diagnosis on the best care path. In short, conditions for which knowledge involves the mutation, in positive terms, of the natural history of the disease.
“The project, 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 this novelty. The next step will be to extend the project to all newborns and all birth centers, since otherwise there would be a serious problem of injustice and also of democracy. Yes, of democracy: medical genetics and its revolution pose, in fact, serious problems of democracy, if not all citizens can benefit from it. This is the reason why there cannot be an advanced region like Puglia and the other regions, more or less backward”, continues Amati.
“This time too I want to thank the Medical Genetics Laboratory of Di Venere, 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 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.”
Here are some answers to any questions you may have.
What does the analysis that will be performed consist of?
The NGS analysis is a sequencing analysis with new generation techniques that will analyze the 407 genes that determine a series of 300 monogenic diseases for which an early diagnosis could allow to improve the care/therapy path.
Does it involve costs for families?
No. It is a project financed by the Region.
Does it involve additional risks/blood draws for the newborn?
No. It will be carried out using the same samples taken for legal screening. An incorrectly performed Dried Blood Spot (DBS), i.e. an unsuitable DNA sample, will not allow the sample to be included in the project.
Why give consent?
Unlike other screening, there is not yet absolute evidence in favor of costs/benefits and for this reason genomic screening is part of a Research Project and, as with any Project, consent must be requested.
Will all the newborn’s genes be analyzed?
No. Only those genes will be analyzed for which there is evidence that diagnosis in the neonatal/early childhood period could significantly improve the history of the disease. Overall, 407 genes responsible for 300 Mendelian-based (monogenic) genetic diseases will be analyzed. The conditions were chosen within different disease categories [principali gruppi: metaboliche (43%), endocrinologiche (20%), ematologiche (12%), neurologiche (7%), immunologiche (6%)].
Why test at birth and not wait for some signs/symptoms to appear?
“It has been demonstrated by various works that genomic screening anticipates the diagnosis by more than 2 months on average compared to an approach based on genomic testing in the presence of signs/symptoms of disease. It is easy to imagine how diagnosing before the symptoms appear can greatly improve the management of the disease, as these are generally, among other things, rare diseases for which it is not very easy to make a diagnosis and start any treatment.
Will the screening absolutely exclude that the newborn has the analyzed diseases?
No. In larger studies the diagnostic capacity does not exceed 80-85% of cases.
Does screening make a definitive diagnosis?
No. As with all screening, a confirmatory test is required.
Will the test results be communicated?
No, unless explicitly requested or if gene variants that are important to communicate have been identified. In this sense it is indicated that the analysis will be completed within a maximum of 15 days from receipt of the sample. Only where potentially pathogenic variants are identified in the genes studied, with possible important implications for the future life of the newborn and/or the family, will they be communicated during the visit carried out by a specialist in medical genetics with specific experience in the field of NGS diagnostics and related counseling in the pre/neonatal period.”
