Apulia genome: newborn screening grows with analysis of 27 more genes and 36 diseases

The impact of the Genome Apulia programme, the genetic analysis panel enabling the early diagnosis of rare or very rare diseases in children's first months of life, is growing. The panel has increased by a further 27 genes analysed, now totalling 433, and by a further 36 diagnosable diseases, thus reaching 597. The new diseases included are cardiac, endocrinological, immunological, metabolic and syndromic conditions. This further update, which will start on 1 January 2026, is made possible by the automatisms provided for in the establishing regional law, the first case in Italy, which further strengthens this public health programme 'founded,' explains Fabiano Amati, the law's proposer, 'on the idea that genetic prevention is not an experiment or a pilot project, but a universal right to be exercised at birth, in a fair and systematic way.

Increasing the number of diagnosable genes and diseases increases the concrete possibility of early diagnosis and thus timely treatment, and in many cases, of saving lives. As has already happened so far in dozens of cases . For the team of the medical genetics laboratory at the Di Venere hospital in Bari, directed by Mattia Gentile, who leads the entire programme, the possibility of intervention is therefore growing.

Genoma Puglia is a pioneering and free newborn genomic screening programme, the only one of its kind in Italy and the world, which analyses the DNA of newborn Apulian babies from a drop of blood to identify hundreds of rare genetic diseases at an early stage, enabling timely diagnosis and customised treatment, turning prevention into daily practice and anticipating diseases before the onset of symptoms, also with benefits for family prevention.

The programme officially started as a pilot phase in June 2024, before becoming a structural and universal programme for all newborns in Apulia from 1 April 2025, offering free genetic screening to identify rare diseases early. And this year it is growing again.