Neonatal genomic screening could save us from genetic diseases

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Screening genomico neonatale

Possibility of identifying genetic diseases already at birth but also the risk of false positives: this is what emerges from a study funded by Telethon and the Lombardy Region which aims to screening genomico neonatale

In this article

  • What is neonatal genomic screening
  • How the research will take place
  • Advantages and risks of genome sequencing
  • A big step forward for science

What is neonatal genomic screening

Lo screening genomico neonatale is meant to identify genetic diseases already at the moment of birth, and in particular those with infantile onset, in order to be able to prevent and intervene so quickly. 

The program will be financed by the Lombardy Region, which will invest 470.000 euros, and the Telethon Foundation, which will instead participate with 245.000 euros. 

Read also: More extensive neonatal screening

How the research will take place

In this research phase, therefore, some hospitals such as the ASST Papa Giovanni XXIII di of the city and the IRCCS San Raffaele Hospital, under the coordination of the head of the Molecular Genetics Section of the Medical Genetics Laboratory of Pope John XXIII Maria Iascone , will carry out the execution of the whole genome sequencing about 60 children and their parents. At the San Raffaele, then, Professor Giorgio Casari will deal with the sequencing of the genome but also dell'esoma about fifty babies and their parents. 

Read also: Hereditary metabolic diseases: from diagnosis to therapy

Advantages and risks of genome sequencing

The great advantage of this screening would therefore be to detect it early genetic diseases which could then manifest themselves in childhood, and therefore foresee experimental diagnostic paths that could have effects on the way of treating the diseases themselves. 

For example, thanks to an asymptomatic diagnosis, it could reduce or even prevent serious consequences of the disease on children's health, significantly improving their life expectancy or, at best, modifying their prognosis. Furthermore, discovering a genetic disease even before it manifests itself would avoid the long and tortuous ones diagnostic pathways which often children and parents must undergo before having a definitive response to the symptoms affecting the child. 

However, there are ethical doubts as to whether to "get your hands on" and discover pathologies before they occur, or even the risk that they can occur. In some cases, in fact, one can be a carrier of the gene but never develop the disease: what to do if it happens? 

Read also: Newborn screening to diagnose congenital metabolic diseases

A big step forward for science

Fabrizio Sala, Councilor for Education, Research, Innovation, University and Simplification of the Lombardy Region, has no doubts, who maintains that "this project represents a great step forward to develop the ability to prevent disease and extend the healthy period of life to the maximum. of citizens ". The Director General of the Telethon Foundation, Francesca Pasinelli, has the same idea, according to which "an early diagnosis can avoid the diagnostic odyssey that often involves the families of children with a suspicion of genetic disease and that in some cases can last years, with consequent waste of time, energy and resources, in addition to the heavy psychological implications ". 

Lo screening genomico neonatale it will be developed in the coming months (and years) in Lombardy to understand its feasibility. If it works, it might spot the genetic predisposition to some diseases already at birth, in order to provide a personalized path for those who need it and improve their quality of life if they develop the disease. 

  • genetic diseases
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