In the context of the French bioethics law, the French National Assembly adopted the amendment 19 quater allowing the use of a genetic test as part of the national newborn screening program on July 31, 2020. The bill on bioethics, adopted at second reading, was sent to the Senate on August 3, 2020. Article 19 quater aims to offer parents, in the context of newborn screening, the first-line research, through an analysis of genetic characteristics, of targeted genetic abnormalities that may be responsible for a particularly severe disease susceptible to preventive or treatment measures.
In France, the tests currently carried out in the context of newborn screening consist of biological tests, defined by a decree of February 22, 2018. Newborn screening, carried out using biological tests, currently concerns five diseases: phenylketonuria, congenital hypothyroidism, sickle cell anemia, congenital adrenal hyperplasia and cystic fibrosis. The national newborn screening program, following the recommendation of the French National Authority for Health (HAS), will be extended in 2020 to screening for medium chain acyl-CoA dehydrogenase deficiency (MCAD), belonging to the group of qualified diseases, inborn errors of metabolism.
Of the 24 inborn errors of metabolism evaluated, the HAS also recommended to expand the national newborn screening program by mass spectrometry to 7 diseases: maple syrup urine disease (MSUD), homocystinuria (HCY), tyrosinemia type 1 ( TYR-1), glutaryl-CoA dehydrogenase deficiency (GA-1), isovaleric aciduria (IVA), long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD), and carnitine uptake deficiency (CUD).
Long a pioneer in newborn screening, France remains behind other European countries, which have taken a significant lead, with more than 26 diseases detected in some countries. This situation, contested by patients’ organisations, is at the origin of loss of opportunities to prevent or limit the impact of the disease, by accessible and available treatment as well as candidate drugs during clinical trials.
In Europe, genetic tests, as part of newborn screening programs, are currently used to confirm the results of screening tests performed using biological markers, such as cystic fibrosis in 10 countries or organic aciduria disorders, glutaryl-CoA dehydrogenase deficiency (GA-1) in 7 countries, isovaleric aciduria (IVA) in 6 countries, and methylmalonic acidemia with homocystinuria or propionic acidemia in 4 countries. But, for some rare diseases, newborn screening could only be performed with the use of genetic tests.
The French association AFM-Telethon has carried out awareness-raising actions for two years, in the context of the revisions of the bioethics law, to extend genetic newborn screening for severe diseases for which a therapeutic option exists, such as for spinal muscular atrophy, and for which pilot genetic screening studies have been assessed in Germany and Belgium. The European Alliance for Newborn Screening for Spinal Amytrophy also published a press release asking that by 2025, newborn screening programs in all European countries include a test for spinal muscular atrophy. The adoption of this amendment is a major step forward in the context of newborn screening and paves the way for screening for new genetic diseases, by providing a legal basis to implement a generalised screening for genetic diseases.
The Ministry of Health, after the expertise from the Health Agency (Haute Autorité de Santé HAS) and the Biomedicine Agency (ABM), will define the modalities before this screening takes place, and will as well, define the list of the concerned diseases.
