Paris – France
In a press release dated Tuesday 15 November 2022, the French National Authority for Health (HAS) recommended that screening for sickle cell disease, a genetic disorder with potentially serious effects, be extended to all newborns in France, in the wake of measures taken by the government in this regard. New data, particularly epidemiological, have modified the HAS’s assessment, it states in its press release. During its previous assessment, in 2014, it had recommended continuing targeted screening.
This screening concerns newborns whose parents come from areas where the genetic risk is higher (West Indies, French Guiana, 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 and Oman).
Sickle cell anaemia is an inherited blood disorder, which affects the red blood cells. It is one of the most widespread genetic diseases in the world, particularly in Africa.
In France, it is rarer but affects nearly 30,000 people, according to government figures.
Its symptoms include anaemia, painful seizures and an increased risk of infection. Its repercussions can be serious: it is, for example, the leading cause of stroke in children.
“It is the only disease screened at birth whose incidence is steadily increasing: 557 cases were screened in 2020 compared with 412 in 2010′ in France, the HAS observes.
Until now, targeted screening has been heterogeneous depending on the region: “More than three out of four children benefit from it in the Île-de-France region, compared with barely one in two nationally in 2020, while no region is free of cases”, it adds, adding that “a risk of error in targeting” by carers has been shown by studies and reported by professionals, according to the health authority.
Screening at birth allows immediate treatment to alleviate symptoms and avoid complications.
The associations, professionals and institutions consulted by the HAS were “unanimous on the interest of extending screening” and “did not question the capacity of the health system to adapt to the increased flow of tests”.
They also “emphasised that the generalisation of screening remedies the risk of stigmatisation of the populations currently targeted”.
The generalisation of screening for sickle cell disease has already been incorporated into the social security financing bill by a government amendment added after the debates on the text in the National Assembly were halted by the 49-3 procedure.
This measure would be tested for three years and could then be extended indefinitely if it proved successful.
France is thus catching up in terms of screening at birth. During the two or three days following the birth of a child, a screening test is offered at the maternity hospital to all young parents.
This “Guthrie test” takes the form of a blotter that collects a drop of blood taken from the baby’s heel. At the same time, a screening for deafness is carried out.
The test, the results of which are generally known within ten days, is not compulsory but is strongly recommended.
Created in 1972, this free national programme enables the detection of certain rare diseases in newborns, such as cystic fibrosis or congenital hypothyroidism, before the first signs appear.
Since 1 January 2023, following recommendations from the French National Authority for Health (HAS), screening has been extended to seven additional diseases, rare hereditary conditions affecting the 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,” Michel Polak, head of the Île-de-France regional neonatal screening centre based at the Necker-Enfants malades AP-HP hospital, told a recent press conference.
“The acquisition of tandem mass spectrometers, machines that can analyse many diseases at once on the same blood spot, has been decisive,” says Jean-Baptiste Arnoux, paediatrician and coordinator of the G2M rare disease network’s screening working group. “But technology is not enough, for a long time there was a lack of political will.
Unlike many countries such as Belgium and Germany, France was for a long time opposed to “genetic” screening at birth, with many elected officials fearing the threat of “eugenics”. But things have changed with the 2021 bioethics law.
Screening at birth for genetic diseases such as sickle cell anaemia would be more than beneficial in Africa, where this disease wreaks havoc in silence. Africa is the continent where sickle cell disease, a disease declared a global public health priority by the World Health Organisation (WHO), is most prevalent. The fight against this disease faces challenges; one of them is neonatal screening which should be made compulsory, as in European countries where the prevalence rate is lower.