Sixth International Neonatal Screening Day

June 28, 2026

Neonatal screening (NS), or newborn screening (NBS) is a public health program that aims to identify individuals with rare but serious diseases within the first days of life, enabling early treatment, and helping to prevent irreversible sequelae. NBS plays a central role in pediatric preventive medicine. Since 2021, International Neonatal Screening Day (INSD) has been celebrated each year on June 28.

Evolution of newborn screening in France

As highlighted in our 2021 news article marking the First International Neonatal Screening Day, France was a pioneer in establishing a national NBS program in 1972. However, for many years, this program covered fewer conditions than those implemented in other countries, especially in Europe, limiting opportunities for early diagnosis for many children. The reorganization of the national NBS network in France and the expansion of the NBS program were two key objectives of recent National Plans for Rare Diseases with the aim of enabling earlier diagnosis and intervention.

Last year, at the time of publication of our news article dedicated to the Fifth International Neonatal Screening Day, 13 diseases were screened using biological tests as part of the NBS program in France, in addition to screening for deafness. Since September 1, 2025, three additional diseases have been added:

Spinal muscular atrophy (SMA)
Severe Combined Immunodeficiency (SCID)
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD).

These additions bring the total number of biologically screened rare diseases in the French NBS program to 16, alongside screening for permanent bilateral neonatal deafness. Further details are available on the Ministry of Health, Family, Autonomy and Disabled Persons website.

Newborn screening programs in the United Kingdom and in the United States

In the United Kingdom (UK), 10 rare diseases are currently screened for in newborns using biological tests, alongside a hearing screening test. SCID and SMA are currently being considered for inclusion in the national NBS program.

The organization of NBS in the United States differs from that of many other countries. Rather than implementing a single national program, the federal government publishes a list of conditions for which NBS is recommended: the Recommended Uniform Screening Panel (RUSP). Each state independently determines which conditions are included in its NBS program. To date, the RUSP includes 40 core conditions and 26 secondary conditions.

New tools to further increase the number of rare diseases screened in neonates

NBS for phenylketonuria was introduced by Dr. Robert Guthrie in the 1960s in the United States. Today, as in the 1960s, NBS is generally performed on a heel prick blood sample collected from newborns (aged 2-3 days) and then blotted onto filter paper. Various methods are used to analyze the sample depending on the diseases being screened, including: immunoassays, enzyme assays, tandem mass spectrometry (MS/MS), high-performance liquid chromatography (HPLC), and targeted genetic tests (e.g., the polymerase chain reaction [PCR]). However, more than 70% of rare diseases are of genetic origin, and most manifest in childhood. Technological advances offer the potential to develop a much broader genomic newborn screening (gNBS) program, which should make it possible to diagnose a larger number of rare diseases at an early stage. It is important to note that the development of gNBS appears to have widespread public support, which is an essential prerequisite for large-scale implementation, in France or internationally.

In France

To significantly increase the number of diseases included in the NBS program in France, the Fourth National Plan for Rare Diseases, which was entitled “Des Territoires vers l’Europe” (“From Territories to Europe”) and provided detailed objectives and action plans for the period 2025-2030, addresses the future use of genomic techniques with the following approaches:

Support for pilot projects exploring gNBS techniques
Support and promotion of fundamental research programs, including in humanities and social sciences (SHS), on the use of genomics in the context of NBS

The project PERIGENOMED, supported by the Dijon-Bourgogne University Hospital, aims to assess the feasibility and effectiveness of extending the NBS program through genomic sequencing and to gather evidence supporting nationwide implementation in France. The project plans to screen for more than 800 rare diseases for which there is a substantial benefit of early diagnosis for the child. The protocol for the first phase, PERIGENOMED-CLINICS 1, was published a few months ago: PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France. During this pilot phase of the project, gNBS will be carried out on 2500 newborns across five university hospitals (Dijon, Besançon, Rennes, Nantes and Angers) with sequencing of 400 genes associated with 171 treatable rare diseases or groups of rare diseases, and the option for sequencing of a further 407 genes related to 218 additional actionable diseases or groups of diseases.

Internationally

Several countries are currently evaluating the integration of genomic sequencing into national NBS programs.

At the European level, gNBS is a central pillar of the Screen4Care collaborative project. This initiative was discussed in a literature review published in the Orphanet Journal of Rare Diseases in 2025, to which our medical and scientific writing team contributed: Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease. Screen4Care, a European public health program supported by the Innovative Medicines Initiative (IMI 2 JU), plans to use next-generation sequencing (NGS) to screen for treatable and actionable rare genetic diseases in a large European cohort of around 25,000 newborns over 5 years.

In the UK, the Generation Study is assessing the feasibility and clinical utility of whole-genome sequencing in 100,000 newborns across England to identify more than 200 actionable rare diseases. Analyses are carried out using either a small blood sample taken from the umbilical cord immediately after birth, or through a heel prick test if collecting cord blood is not possible.

In the United States, several research initiatives are investigating the added value of genomic sequencing as an adjunct to conventional NBS. For example, the Genomic Uniform-screening Against Rare Disease in All Newborns (GUARDIAN) study in New York and the BeginNGS project, being conducted throughout the United States and abroad, are using whole genome sequencing to screen for 400-450 actionable genetic conditions using blood-spot samples collected at birth.

Newborn screening and rare diseases at Santé Active Edition – Synergy Pharm

NBS and rare diseases are key areas of expertise for the Santé Active Edition – Synergy Pharm team. Our experience in these fields, as mentioned in our previous news articles, includes:

Writing original articles and literature reviews published in peer-reviewed journals
Drafting and translating clinical management recommendations
Developing referenced slideshows, posters, and conference reports
Contributing to the development of diagnostic summary sheets
Analyzing the literature, and drafting and translating several French National Diagnostic and Care Protocols (Protocoles Nationaux de Diagnostic et de Soins; PNDS)
Drafting research protocols and accompanying documents, clinical study reports (CSRs) as well as content for patient websites and press releases.

In addition, two of our medical writers worked for Orphanet before joining the Santé Active Edition – Synergy Pharm team. Our extensive experience in the field shows that you can rely on our skills and expertise to support your projects on NBS and rare diseases!