To save children from a serious illness, France is finally trying genetic screening

It is an early onset disease that can kill a child within a few years. Spinal muscular atrophy, which can be treated provided you act very quickly, will finally be the subject of genetic screening from birth in part of France. “It’s extremely important, this neonatal screening: you really shouldn’t hesitate to put this in place as quickly as possible because we save a lot of children”, explains to AFP Julie Teys, whose baby died. was diagnosed with spinal muscular atrophy when he was born in 2019 in Belgium.

A disease that strikes a hundred babies each year

This disease of genetic origin strikes around a hundred babies each year in France. The neurons that control movement gradually degrade, causing the muscles to weaken. In its most serious form – about half of the cases – this disease kills the affected child in less than two years, quickly suffering from difficulty eating or breathing. Oscar, the son of Julie Teys, escaped. He is now three and a half years old and leads an almost normal life. “He has very few symptoms: he walks, he runs, he goes to school; he doesn’t have a brace, he doesn’t have a wheelchair, he doesn’t need respiratory assistance” , she explains.

If this “miracle”, in the words of Julie Teys, took place, it is because Oscar’s genetic mutation was detected at birth, before the first symptoms of the disease. However, for a few years, treatments exist – developed by the laboratories Biogen, Novartis and Roche -, but they are much more effective if they are taken before the disease declares itself, because the degradation of neurons is irreversible.

A screening program tested in the Grand-Est and New Aquitaine

Screening at birth is therefore crucial. The fact remains that if Julie Teys had given birth in France, her baby would not have been able to benefit from it: this disease is not the subject of widespread identification there, unlike many countries, such as Belgium and Germany as well as much of the United States.

From the fall, things will change, but only in two regions: the Grand-Est and New Aquitaine, which will experiment for two years with a screening program. If this proves to be a success, an extension will be possible throughout the country.

Particularly restrictive French legislation

Why such a delay, when France was a pioneer a few decades ago in detecting serious diseases at birth? This is because spinal muscular atrophy can only be detected in a “genetic” way, by directly identifying an unusual mutation in the gene concerned. In contrast, current newborn screenings, for example for sickle cell disease, look to see if the baby’s blood contains unusual elements, such as certain proteins, which are themselves a consequence of the genetic mutation.

However, French legislation has long been particularly restrictive in terms of genetic screening. To authorize this, the parents had to go through a series of in-depth interviews, an unrealistic procedure for generalized screening. Things changed with the bioethics law of 2021. An amendment considerably lightened the rules in this area, paving the way for the experimentation that will be carried out in the fall.

Some MPs had talked about eugenics

It will be “the first genetic screening study for a disease in France: (…) it is something that will open up a new medicine”, welcomed Tuesday, during a press conference , Christian Cottet, general manager of the French Association against myopathies (AFM) which organizes the Telethon and participates in this study. But to get there, the journey has not been easy, especially in the face of the reluctance of certain political leaders when it comes to genetics.

During the debates in the National Assembly on the law of bioethics, certain deputies had thus spoken of “eugenics”, such as the elected representative of the right Patrick Hetzel. He had mentioned the science fiction film “Welcome to Gattaca”, which describes a society where genetic heritage determines the social course of an individual. These debates are worthy of “another period”, believes Julie Teys, who wonders about a French particularity in the matter. “I don’t understand today that we can think things like that: why are we waiting for the suffering to set in if we can avoid or limit it?”, she concludes.