An Analysis of the Status of Newborn Screening Programmes in the European Union and Its Upcoming Developments: What Does This Mean for New Drugs?

OBJECTIVES: In 2022, patient groups and members of the European parliament have called for EU-wide harmonisation of Newborn Screening (NBS) programmes. This promises higher detection rates of rare and genetic diseases, leading to earlier patient access to treatment. The objective of this research is to analyse the current landscape by quantifying and comparing the different European NBS programmes and understand implications on novel drug access.

METHODS: Focusing on the 27 EU member states, information was retrieved via a targeted literature review of healthcare authority websites, peer-reviewed articles, and grey literature. A quantitative analysis across the programmes compared the quantity of NBS programmes, categorised them by disease area and sorted them by national, regional, and piloted. Italy, the country with the most advanced NBS programmes, was selected to extrapolate key learnings.

RESULTS: The detected EU fragmentation is reflected in its main 4 economies with Italy screening 58 diseases, Spain 40, Germany 21 and France 15. Among the remaining countries, Poland, and Austria screen the highest number of diseases, whilst Bulgaria, Cyprus and Romania screen the lowest. Endocrine disorders are the only group of diseases screened across the 27 EU members states.

The majority of member states conduct national NBS programmes. Spain and Belgium, primarily have regional-level programmes, whereas in France and Greece the majority are piloted programmes.

Comprehensive NBS in Italy has allowed for the first clinical administration of the gene therapy onasemnogene abeparvovec to a pre-symptomatic infant with Spinal Muscular Atrophy. This allows the system to ensure appropriate utilisation of expensive, transformational therapies and ensures patient outcomes are maximised.

CONCLUSIONS: NBS programmes greatly vary within the EU. By implementing EU-wide best practices, timely access and maximal treatment effect can occur. With the advent of highly disruptive treatments, a multi-stakeholder effort is needed to promote and implement NBS harmonisation, fostering optimal patient access.