Long behind its neighbours, France is trying to catch up on birth screening. Since the beginning of the year, seven new diseases have been integrated into a national program that can save lives. During the two or three days following the birth of a child, screening is offered at the maternity ward to all parents. This “Guthrie test” comes in the form of a blotter that will collect a drop of blood taken from the infant’s heel. A hearing screening is carried out at the same time. The free test, the results of which are generally known within ten days, is not compulsory but strongly recommended. After checking the result, support is instituted: informing the parents, quickly scheduling a consultation with a referring pediatrician, starting the treatment and organizing the follow-up.
Created in 1972, this national program makes it possible to detect certain rare diseases in newborns, such as cystic fibrosis or congenital hypothyroidism, before the appearance of the first signs. Objective: save time. This system was set up for the first time as part of systematic screening for phenylketonuria, a genetic disease characterized by progressive and severe intellectual disability. Screened at D + 3, it makes it possible to provide treatment based on a diet low in protein. “Since the introduction of neonatal screening in 1972, more than 37 million children have been screened in France and nearly 30,000 thus taken care of quickly”, explains the site Ameli. According to the website Euroactiv80% of rare diseases have a genetic origin and 70% begin in childhood.
In 2021, the program identified 1,165 sick children, i.e. one sick child out of 641 screened. Since January 1, 2023, following the recommendations of the High Authority for Health (HAS), France has decided to give a boost in this area. Screening has been extended to seven additional diseases, rare inherited conditions affecting metabolism. “Each year, one of these diseases will be screened in 50 to 60 newborns, who will join the 1,100 babies saved by screening”, rejoiced at a recent press conference Michel Polak, head of the Regional Center for neonatal screening in Ile-de-France based at the Necker-Enfants Malades hospital AP-HP.
For a disease to be added to the program, several conditions must be checked: there must be a treatment, the disease must be considered a public health problem and, finally, the test must be easy to perform. “It is important to screen for diseases that can be treated because parents will never see that their child is sick,” detailed Michel Polak, shortly before World Rare Disease Day on February 28. In the case of the seven newly added diseases, medications or diets can be put in place early enough to prevent the newborn from developing symptoms and complications.
Affected sickle cell disease
France is thus trying to gain a few places in the rankings for neonatal screening. “France is 22nd out of 30 in Europe with 6 diseases, and in 2023 with 7 more diseases we will be 15th. In Italy, nearly 50 pathologies are screened at birth”, lamented Laurence Tiennot-Herment, president of AFM-Telethonin everyday life The echoes on December 1. Iceland, Portugal, Denmark and the Netherlands already detect more than fifteen pathologies.
Recent technological developments have helped France catch up. “The acquisition of tandem mass spectrometers, machines allowing the analysis of many diseases on the same blood spot at once, was decisive”, reported to AFP Jean-Baptiste Arnoux, pediatrician coordinator of the screening working group within the G2M rare diseases network. And who says new machines, also says obligation to train biologists.
Following the recommendations of the HAS, screening for sickle cell disease should be extended to all births, whereas until now it was reserved for families most at risk of transmitting the disease. This hereditary disease of red blood cells has seen its number of cases increase by more than 50% in ten years. In the future, neonatal screening could still open up to other conditions: five additional metabolic diseases will indeed be discussed in 2023. But the road is still long, regret the associations: “Specialists agree that “there are between 100 and 150 diseases that would justify neonatal screening”, explained in the columns of West FranceFrédéric Huet, President of the French Neonatal Screening Society.
Proof that screening is progressing, two regions – Grand-Est and Nouvelle-Aquitaine – have been experimenting since the autumn with screening for a genetic disease, spinal muscular atrophy (SMA), which strikes around a hundred babies each year in France. Early January, the AFM Telethon has set up a pilot project to detect this “disease of genetic origin which affects the nerve cells which control the muscles: the motoneurons”. Spinal muscular atrophy is manifested by muscle weakness of varying severity, which can begin at birth, in childhood or in adulthood. A total of 120 babies are born every year with this genetic disease, or one in 7,000 births.
France long opposed to genetic screening
In its most serious form (about half of the cases), it kills the affected child in less than two years, quickly suffering from difficulty eating or breathing. However, in recent years, treatments have existed but are much more effective if they are taken before the disease declares itself. Several countries in the world and in Europe, including Belgium and Germany, have systematized screening for spinal muscular atrophy at birth. In Italy, pilot projects also exist, covering part of the population, but not on a national scale. The association ADM Europe estimate that 20% of newborns in the EU have been tested for SMA in 2021, and they expect that figure to rise to 35-40% by the end of the year.
In France, it will take another two years before early detection becomes automatic like the “Guthrie test”. How to explain such a delay? Unlike other countries such as Belgium and Germany, France has long been opposed to “genetic” screening at birth. However, spinal muscular atrophy can only be detected in a “genetic” way, by directly identifying an unusual mutation in the gene concerned.
For many years, for genetic testing to be permitted, parents had to undergo a series of in-depth interviews, an unrealistic procedure for widespread testing. An amendment to the bioethics law, adopted in 2021, made it possible to lighten the rules in this area, paving the way for the experimentation which will be carried out in the fall. Not without difficulty: during the debates on the examination of the text in the National Assembly two years earlier, certain deputies had spoken of “eugenics”, like Patrick Hetzel, deputy Les Républicains, who had mentioned the film of science fiction “Welcome to Gattaca”.
The national neonatal screening program is funded by National Health Insurance and coordinated by the French Association for the Screening and Prevention of Childhood Disabilities (AFDPHE). It is implemented in the 22 regions by 22 regional associations (ARDPHE). The annual cost of the program is 8.6 million euros per year, or around ten euros per child.