One in 30 people is a healthy carrier of cystic fibrosis, i.e. they have no symptoms but can pass on the mutations of the disease to their children. In most cases, however, she is unaware of it. This is where the ‘1 in 30 and you don’t know’ project takes its name, launched by the Cystic Fibrosis Research Foundation on the eve of World Day dedicated to the most common rare genetic disease in Europe. The goal is to encourage screening of healthy people who could pass on the mutated gene to their children.
One person out of 3000 is born with cystic fibrosis, a serious multi-organ and degenerative disease that has no definitive cure.
The National Health Service offers the test to identify carriers but it is aimed only at subjects considered at high risk of being able to give birth to an affected child.
“Unfortunately, however, as happened to us – explains the president of the Matteo Marzotto Foundation – the diagnosis of a child with cystic fibrosis affects new parents, almost always unaware of being healthy carriers”. To fill the educational gap, the Foundation has been working for years, now also with the testfibrosicistica.it website, to encourage informed parental choices.
A study conducted in Italy suggests the existence of an association between population screening to identify carriers of cystic fibrosis regardless of the degree of familiarity, and the decrease in the incidence of the pathology. “From an economic point of view – comments Lucrezia Ferrario, HD Lab coordinator – Healthcare Datascience of the Cattaneo University – it emerges that, six years after the introduction of carrier screening to adapt the structure to a greater volume of services, it is possible to obtain a return on investment”.
A hypothesis that sees the undersecretary for health Marcello Gemmato in favour. “It is important – he said – to imagine a mass screening action of citizens of childbearing age to highlight the pathology in a predictive way and to follow the right course of treatment and approach. This can serve to reduce the cost of the Service health care and above all to make citizens affected by this disease feel better”.
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