Briefing - What if the EU had guidelines for newborn screening? - 26-03-2026
Newborn screening is an established preventive healthcare practice that enables the detection and treatment of health conditions at an early stage. It could reduce the risk of 'diagnostic odyssey' often experienced by persons affected by rare diseases, which in Europe are defined as health conditions that affect less than 1 in 2 000 persons. This briefing presents the findings of a desk review of publicly available sources on newborn screening practices in the EU and the United States (US), which serves as a benchmark. The research finds that these practices vary widely in the EU, which raises concerns regarding equal access to healthcare and the promotion of health outcomes. In total, 87 different rare conditions are covered in national newborn blood screening (NBS) panels (including those conditions in pilot programmes) across the EU. However, only two rare health conditions – congenital hypothyroidism and phenylketonuria (PKU) – are included in all national NBS panels. Other notable differences between Member States include the sample collection window, which ranges from 24 to 144 hours after birth. The draft legislative-initiative report calling for an EU rare disease action plan (2025/2130(INL)), being discussed in the European Parliament's Committee on Public Health, calls for stronger measures to harmonise and promote NBS in the EU. A February 2026 EPRS study finds that stronger EU action on newborn screening – as part of an overall EU rare disease action plan, as called for by the European Parliament – could boost access to health care and social inclusion, promote better health outcomes, lower healthcare costs and promote health sector innovation and competitiveness. This briefing presents further evidence to support this claim. First, the diffusion of newborn screening for spinal muscular atrophy (SMA) was faster in the US, where SMA is included in federal guidelines, than in the EU, where there are presently no such guidelines. Some research has found that earlier diagnosis of SMA is associated with better health outcomes and lower health care costs. Second, the rate of infant mortality is lower in EU Member States that cover more health conditions in their NBS panels.
Source : © European Union, 2026 - EP
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