Nouvelle-Aquitaine and Grand Est: Pilot Territory for Screening of the First Genetic Newborn

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Infantile spinal muscular atrophy. The name is barbaric, the disease is more. A nightmare that affects a hundred children a year in France. Few patients with the most severe form of this genetic disease, i.e. 80% of them, live less than 2 years. Faced with this rare disease that gradually loses muscle strength, until the lungs and heart fail, treatment exists. If they allow children to survive, they often retain a serious disability, when it is not too late to be able to begin screening treatment. But a revolution is unfolding: a pilot study will begin in New Aquitan and the Grand East to allow genetic screening of newborns in these two regions. Purpose: To treat before symptoms appear and to lead a “normal” life for these children and their families.

In the case of obstetrics, neonatal screening is nothing new: at each birth, a few drops of blood are taken on screen from babies for six diseases, including cystic fibrosis, hypothyroidism and sickle cell disease. “It is a biochemical analysis that makes it possible to identify biological markers of these diseases.”, Explains Christian Cottet, managing director of AFM-Téléthon. The idea is to provide the best possible comfort and even appropriate and immediate care for the patient.

“Finding disease in patients with no symptoms”
The rationale for treating infantile spinal muscular atrophy may be the same. Science and clinical research have proven: “In the first months of a baby’s life, the best way to keep a baby healthy is to use treatment before the symptoms appear. So we must find the disease in patients who still do not have the symptoms to optimize their treatment.Explained by Vincent Logel, Head Neuropediatrician and Head of the Reference Center for Neuromuscular Diseases at Strasbourg University Hospital.

The problem is, there are no biochemical signs in the early stages of infantile spinal muscular atrophy, and babies affected at birth are just like any other baby, in seemingly good health. The only way to confirm the existence of this disease “Which is responsible for detecting double mutations in the SNM1 gene”, Explained Christian Cottet. In other words, genetic screening of the newborn. Which was not done in France.

This screening is the result of a pilot study that will be conducted for the first time in the autumn in two test areas: Grand East and New Aquinas. “And it’s really urgent, because about 60 serious type 1 SMA babies are born each year, half of them are not treated because they were diagnosed too late.”AFM apologizes to the director of Téléthon, who supports France’s delay in this regard: “Newborn screening and therapeutic progress go together!”.

Section 27 of the Bioethics Act

Other countries have, in fact, already approved these genetic tests, and have made it possible to “save” or reduce the harmful effects of this disease on children. In Belgium, this is especially the case with 3-year-old Oscar, who benefited from this test at birth. “Oscar goes everywhere, it’s an electric battery! He ran and jumped everywhere! ADescription of his father. “He’s a lively little boy. Gene therapy has changed our son’s destiny.”His mother testified with emotion.

A miracle of science from which French families will soon benefit. The Bioethics Act of 2021 and its 27th paragraph now allow genetic testing of newborns in our country. The States-General of Bioethics underlined the Director General of AFM – Téléthon, the result of a strong solidarity led by families of primarily sick children since 2018.

“A simple and targeted genetic analysis”
In concrete terms, this screening, “It’s a simple genetic analysis. Two additional drops of blood will be taken from the newborn to be able to perform this analysis with parental approval. It will only notice this SNM1 gene and its double mutations involved in infantile spinal muscular atrophy. Nothing else. We do not open the door to DNA sequencing of children, as some wanted us to believe! But it is a real revolution because it is unique in France and means that we are paving the way for screening for other diseases using genetics. We are bringing this screening into the current practice of modern medicine. Professor Didier Lakambe, a geneticist and coordinator of the New Aquinas Regional Neonatal Screening Center at Bordeaux University Hospital, is involved in the project.

If the effectiveness of a pre-symptomatic treatment is no longer proven, the goal of the experimental study, which will be conducted in the autumn in two test areas, is to determine the probability of testing. Because scale change is important. “At the Genetic Analysis Laboratory, we are accustomed to working with a few samples. There we open the field for mass screening as in New Aquitan, 110,000 births occur every year and so soon there is a lot of screening. We must implement the restructuring of our laboratories. “

Expand as soon as possible
Nationally, it has 700,000 births each year … skip it “Industrial Scale”It requires resources, “A new body, a timeline for respecting the effectiveness of treatment, a study of direct and induced costs, mobility across the entire chain of care from maternity wards to childcare, good information for parents …” List Professor Laugel. All of these components that the pilot study aims to implement, test and improve within 2 years.

“These two years will allow us to identify and treat a sufficient number of patients, with 8 or approximately 16 babies being born each year and in each region. But we also have the desire not to expect too much. One year later, we are considering the possibility of integrating the system with other regions, with the approval of the national authorities, to expand this possibility of neonatal screening as soon as possible. Some are already in the ranks. “Professor Laugel says.

The device is estimated at 4.8 million euros or € 22 per patient “Considering the cost of research” Related to the study. If screening is included in the routine activities of doctors, obstetricians and other stakeholders, the cost per patient will be shared. “At least by two”Officials said.

Additional information:

Although France was a pioneer in neonatal screening in the 1970s, it is now significantly behind other countries. Some have already been screened for more than 15 pathologies (Austria, Spain, Iceland, Hungary, Portugal, etc.) and others have already opened, with the advent of effective innovative treatments on the market, from genetic screening of newborns and atrophies, especially for spinal muscle atrophy, Belgium, United States, Japan, Quebec …

Solin Merrick

Photo: Shutterstock – Irina Inshina

Published on 06/17/2022

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