Newborn screening The “Puglia Genome” program made it possible to diagnose20 days after the birth of a baby, a very rare neurometabolic diseasecurable if detected promptly. There are only 4 other cases in the world, out of sixty described so far, with the same generic variant: dopa-sensitive dystonia due to sepiapterin reductase deficiency. In the most severe form, such as that diagnosed by the Genetics Laboratory of the “Di Venere” hospital in Bari directed by Mattia Gentile, the disease appears in the first few months of life with a very serious clinical picture: profound psychomotor retardation, hypotonia, spasticity or dystonia of the limbs. «The real turning point is that for this disease there is an effective pharmacological therapy, based on L-dopa, carbidopa and 5-hydroxytryptophan, capable of significantly improving the clinical picture, in some cases up to the complete resolution of the symptoms. – underlines Fabiano Amati, outgoing regional councilor, promoter of the Apulian regional law on genomic screening extended to all Apulian newborns – The effectiveness of the treatment, initiated by the metabolic diseases department of the “Giovanni XXIII” pediatric hospital in Bari and by the medical director Albina Tummolo, depends decisively on the early administration, ideally before the disease even manifests itself. It was possible to anticipate the symptoms, in order to reduce suffering and avoid serious disabilities.”
The “Genome Puglia” program is one of the most extensive neonatal screening programs in the world in the public health sector for the early diagnosis of genetic diseases. Analysis and tests, provided free of charge by the public service and accessible to all, are not mandatory and do not replace the other neonatal tests already provided, but support them with the strength of advance knowledge, care, health and life. A sort of scientific and social “revolution” on the prevention front that allows us to better treat or save the lives of many children.
With a drop of blood taken from the heel of the newborn it is possible to analyze 433 genes and diagnose 597 rare diseasesalso by virtue of the expansion of the genetic analysis panel carried out on January 1st, guaranteeing in-depth tests a few days after birth and timely treatment. The “Puglia Genome” project was conceived with the regional law of March 2023 and is now supported by a now structural funding of 5 million euros per year, with the aim of transforming scientific research into a form of far-reaching prevention. Diagnostics are active in all neonatal departments in Puglia and DNA analyzes are carried out at the Medical Genetics Laboratory of the “Di Venere” Hospital in Bari. These are the official data collected from 18 June 2024 to 30 July, including the experimental phase until 21 March 2025 and the start of the full phase from 17 April 2025: 9,021 samples analysed, of which 380 repeated tests, which allowed the identification of 333 cases of genetic disease (for example, 174 for blood diseases and 48 relating to metabolism) and over a thousand carriers healthy.
«There are around thirty similar international projects in the world, but the program we have developed in Puglia is the only one that is universal and accessible to all. – he declared Mattia Gentile, director of Medical Genetics at “Di Venere” – The challenge we won was to create an automated workflow, which occurs in a pseudonymized manner. In practice, the same barcode identifies the newborn from the blood sample taken from the heel to the final report. All 24 neonatal departments in the region are connected to our laboratory through a cloud platform.”
Early diagnosis, before any symptoms, implements the administration of effective therapies on time to save the lives of children who could develop rare diseases, opening the hearts of many families to hope. For this reason, At the end of last September, the Region planned a dissemination campaign to make all parents aware of the “Puglia Genome” and its peculiarities. The objective is to reach one hundred percent compliance with the screening program, so as not to generate inequalities between those who decide to take the test and those who refuse.
In recent months the “Genome Puglia” project has had a lot of resonance at an international levelespecially in Florida and England. It was presented in London as part of ICoNS’25 (International Consortium on Newborn Sequencing), the most important international conference on newborn screening, which every year brings together scientists, doctors and institutions from all over the world. The Region’s important initiative has received significant recognition for the scientific experimentation it has been able to carry out and for the work carried out, transforming research into diagnostic certainty that guarantees unprecedented protection for newborns and their families.
«When we talk about genetics we are not talking about numbers, but about individual life stories changed and improvedcompared to unfortunately tragic outcomes, as happened in the past and as unfortunately still happens in territories other than Puglia”, concludes Fabiano Amati.
