The High Authority for Health recommended on Tuesday to generalize screening for sickle cell disease, a genetic disease with potentially serious effects, to all French newborns, an opinion issued in the wake of measures taken by the government in this direction.
New data, in particular epidemiological, have changed the assessment of the HAS, she explains in a press release. During her previous assessment, in 2014, she had recommended continuing targeted screening.
This screening concerns newborns to parents from areas where the genetic risk is higher (Antilles, Guyana, Reunion, Mayotte, Sub-Saharan Africa, Cape Verde, Brazil, India, Indian Ocean, Madagascar, Mauritius, Comoros, Algeria , Tunisia, Morocco, Southern Italy, Sicily, Greece, Turkey, Lebanon, Syria, Saudi Arabia, Yemen, Oman).
One of the most common genetic diseases in the world
Sickle cell disease is an inherited blood disorder that affects red blood cells. It is one of the most widespread genetic diseases in the world, especially in Africa. In France, it is rarer but affects nearly 30,000 people, according to government figures.
It is manifested by, among other things, anemia, painful crises and an increased risk of infections. Its repercussions can be serious: it is, for example, the leading cause of stroke in children.
“It is the only disease detected at birth whose incidence is increasing regularly: 557 cases were detected in 2020 compared to 412 in 2010” in France, observes the HAS.
Heterogeneous screening by region
Until now, targeted screening has been heterogeneous depending on the region: “More than three out of four children benefit from it in Ile-de-France, compared to barely one out of two nationally in 2020, while no region has is free of cases,” she adds. In addition, “a risk of error in targeting” by caregivers has been shown by studies and reported by professionals, according to the health authority. Screening at birth enables immediate treatment to alleviate symptoms and avoid complications.
“Unanimous on the interest of expanding screening”, the associations, professionals and institutions consulted by the HAS “did not question the ability of the health system to adapt to the increase in the flow of tests”. They also “underlined that the generalization of screening remedies the risk of stigmatization of the populations currently targeted”.
The generalization of screening for sickle cell disease is already, in fact, integrated into the Social Security financing bill by a government amendment added after the judgment, via 49.3, of the debates on the text in the National Assembly. This measure would be tested for three years, then could be extended indefinitely if it appeared convincing.