by Health Editorial Staff
One in thirty individuals is a healthy carrier of cystic fibrosis; a couple carrying a mutation has a one in four chance of having an affected child. What does the healthy carrier test consist of and when is it paid by the Health Service. The proposal
In our country, one in thirty individuals is a healthy carrier of cystic fibrosis, a rare degenerative genetic disease that mainly affects the respiratory and digestive systems but also other organs; To date there is no definitive cure. A couple of healthy carriers of a mutation have a one in four chance of having a child with cystic fibrosis. To provide the population with information on this genetic disease which affects one in three thousand newborns and on the cystic fibrosis carrier test, the Cystic Fibrosis Research Foundation (FFC Ricerca) launched the campaign 1 in 30 and you don’t know itpresented in Rome on the occasion of the World Day on 8 September, in the presence of the Undersecretary of State at the Ministry of Health, Marcello Gemmato: it is important to imagine – said the Undersecretary, who is responsible for rare diseases – a screening action of mass for citizens of childbearing age precisely to highlight, in a predictive manner, the pathology and follow the right path of treatment and approach, which can also serve to reduce the spending of the National Health Service and above all to make citizens feel better suffering from cystic fibrosis.
Difficult diagnosis
Cystic fibrosis is the most common serious genetic disease. The main symptoms concern the lungs and respiratory tract. Another very frequent manifestation in children is poor growth: the majority of people with cystic fibrosis, in fact, do not produce certain proteins in the pancreas, called enzymes, necessary to adequately digest the fats contained in food. This aspect of the disease, if not treated, leads to a slowdown, even a significant one, in growth. To date there is no cure capable of curing the disease, however increasingly effective therapies are available that can help control it and improve life expectancy and quality. In recent years, research has fortunately made great strides but unfortunately even today, as happened to my family, such a difficult diagnosis as that of a child with cystic fibrosis affects new parents who are almost always unaware of being carriers of the disease – he explains Matteo Marzotto, president of the Foundation for Cystic Fibrosis Research – . Often, not only is cystic fibrosis unknown, but not even the test that identifies carriers is known, i.e. healthy people who could transmit the mutations responsible for the disease to their children. This is why we have invested almost 320 thousand euros from 2021 to today in this first phase of the project.
The test and the project
The probability of being a healthy carrier is greater when other cases exist in the family, but it is not excluded even when they are not known. Currently the National Health Service offers the test to identify the carrier of cystic fibrosis to people considered at high risk (with affected family members – ed.) of having a child born with this disease.
1 in 30 is the frequency with which the condition of a healthy carrier of cystic fibrosis occurs in the Italian population: hence the name of the research, training and information project launched by the Foundation for Cystic Fibrosis Research on the carrier test. Carlo Castellani, scientific director of FFC Ricerca, explains: Since 2015 with the first study funded on this topic, the Foundation has paid particular attention to the cystic fibrosis carrier test, trying to understand, through research and investigations, which modality of offering the test is more sustainable and advantageous and, at the same time, committing to making the test known to as many people as possible. “1 in 30 and you don’t know it” was born in 2021 with the aim of both analyzing the effectiveness, safety and impact of an expanded screening, to all couples, of the cystic fibrosis carrier test, and of providing rigorous and commercial interests in this type of testing.
Association between screening and decreased incidence
The Foundation for research on cystic fibrosis, in collaboration with the Mario Negri IRCCS Pharmacological Research Institute and with the LIUC-University Cattaneo, promoted the conduct of a Health Technology Assessment, that is, a standardized process of multidisciplinary analysis of the impacts economic-organisational, social, ethical and safety and effectiveness aspects related to the introduction of an organized screening offering cystic fibrosis carrier testing to individuals and couples of childbearing age, regardless of the degree of familiarity. The literature review – reports Cinzia Colombo, researcher at the Mario Negri Institute – revealed the lack of updated data on the effectiveness of cystic fibrosis carrier screening, in particular in terms of how much and how people were informed when choosing whether to have children. A comparative cohort study conducted in Italy suggests the existence of an association between carrier screening and the decrease in the incidence of the disease – continues Colombo –. Interviews with the general population confirm a lack of knowledge of the disease.
Sustainable screening program for the NHS?
From an exclusively economic point of view – comments Lucrezia Ferrario, LIUC HD LAB-Healthcare Datascience Lab coordinator – we tried to evaluate whether the investment in an organized screening program is economically and organizationally sustainable for the Health Service, in the face of a better control of the disease that could arise, associated with a decrease in the number of newborns with cystic fibrosis. From the analyzes conducted it emerges that it is possible to obtain a return on investment six years after the introduction of cystic fibrosis carrier screening, following some economic and organizational efforts to adapt the structure to a greater volume of services.
September 11, 2023 (modified September 11, 2023 | 12:22)
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