It is an early-onset disease that can kill a child within a few years. Spinal muscular atrophy, which is treatable provided you act very quickly, will finally be the subject of genetic screening from birth in part of France. “It’s very important, newborn screening: you shouldn’t hesitate to apply this as soon as possible because we’re saving so many babies,” Julie Tice, whose baby has died, explains to AFP. Born in 2019 in Belgium.
A disease that affects 100 children every year
This disease of genetic origin affects about a hundred children every year in France. The nerve cells that control movement gradually deteriorate, resulting in muscle weakness. In its most severe form – about half of cases – the disease kills the affected child in less than two years, and quickly develops difficulty eating or breathing. Oscar, son of Julie Tess, eloped. 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 help breathing,” she explains.
If, in the words of Julie Tice, this “miracle” occurred, it was because the genetic mutation of Oscar was detected at birth, before the first symptoms of the disease appeared. However, for a few years there have been treatments – developed by the laboratories of Biogen, Novartis and Roche – but they are most effective if taken before the disease manifests itself, because the deterioration of neurons is irreversible.
The screening program has been tested in Grand-Est and New Aquitaine
Therefore, screening at birth is critical. The fact remains that if Julie Tice had given birth in France, her child would not have been able to benefit from it: this disease is not a subject of widespread identification there, unlike in many countries, such as Belgium and Germany as well as many countries. United State.
From the fall, things will change, but only in two areas: Grand-Est and New Aquitaine, which will test for two years with a screening program. If this proves successful, a nationwide extension will be possible.
Especially restrictive French legislation
Why this delay, when France a few decades ago was a pioneer in detecting dangerous diseases at birth? This is because spinal muscular atrophy can only be detected in a “hereditary” way, by directly identifying an unusual mutation in the gene in question. By contrast, current newborn screenings, for example for sickle cell disease, look to see if a baby’s blood contains unusual elements, such as certain proteins, which are themselves the result of a genetic mutation.
However, French legislation has always been particularly restrictive in terms of genetic screening. To authorize this, the parents had to undergo a series of in-depth interviews, an unrealistic procedure for generalized examination. Things have changed with the Bioethics Act of 2021. An amendment has largely relaxed rules in this area, paving the way for experiments to be conducted in the fall.
Some MPs talked about eugenics
It will be “the first genetic screening study for a disease in France: (…) something that will open up a new medicine,” Christian Cotet, director general of the Association Against Torture, welcomed Tuesday, during a press conference. Telethon-regulated myopathy (AFM) is involved in this study. But to get there, the journey has not been easy, especially in the face of the reluctance of some political leaders when it comes to genetics.
During debates in the National Assembly on the Bioethics Act, some lawmakers spoke of “eugenics,” such as right-wing elected representative Patrick Hetzel. He mentioned the science fiction movie “Welcome to Jataka,” which describes a society in which genetic heritage determines an individual’s social path. These debates deserve “another period,” thinks Julie Tess, who questions the French specificity on the matter. She concludes, “I don’t understand today that we can think about things like this: Why wait for suffering to happen if we can avoid it or reduce it?”