Adnkronos Rome, October 14 (Adnkronos Salute) – The "Genoma Puglia" program allows all newborns to undergo genomic screening, subject to informed parental consent. This represents a paradigm shift because this type of testing, unlike the mandatory screening currently used nationwide, covers a much larger number of genes and conditions. More importantly, it can be continuously implemented where there are compelling reasons to do so.
Mattia Gentile, director of the Medical Genetics Unit at Di Venere Hospital (Bari), stated this regarding the "Genoma Puglia" project. Developed at the Medical Genetics Laboratory, the program uses cutting-edge sequencing techniques (NGS) using state-of-the-art equipment, starting from a simple drop of blood taken from a newborn's heel (DBS).
"This screening allows us to identify a condition for which there is a treatment at an early stage," Gentile continues, "and therefore rapid identification is crucial. Early identification of a disease greatly improves the prognosis, especially in regions like ours, which obviously have difficulties in providing emergency healthcare. Being able to schedule care is an undeniable advantage from every perspective." "Test acceptance is over 90%, so people are very happy, and I myself meet with the families of positive cases, a minority compared to the total, and I have always found a remarkable ability to understand why we performed the screening and the positive impact of the test both on the newborn and on the entire family," he concludes.