Gulcin Gumus
Research & Policy Senior Manager
For many rare diseases, irreversible damage begins before symptoms appear. Newborn screening (NBS) can identify certain conditions shortly after birth, enabling timely care before serious harm occurs.
Yet, access remains uneven across the EU. Only congenital hypothyroidism and phenylketonuria are screened in every Member State, while national panels range from fewer than 10 conditions to more than 40 in Italy. As a result, children with the same condition can face very different prospects depending on where they are born.
Increasing the odds with NBS
Delayed or inconsistent adoption of NBS for treatable conditions can have devastating consequences. In medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, early diagnosis can prevent metabolic crises that may cause seizures, liver problems, brain damage, coma or sudden death.
NBS programmes are evolving across the EU,
but progress remains uneven
A 2026 French study estimated that, without newborn screening for SMA, 26% of patients could die by age 15, compared with 2% with screening.1 Rare disease diagnostic journeys can also be extremely long: around one in four rare disease patients wait more than five years for a diagnosis.2
Joint statement to strengthen NBS programmes
NBS programmes are evolving across the EU, but progress remains uneven. No single country will always have enough cases, evidence or expertise to efficiently assess every screening target alone. Greater EU collaboration could reduce duplication and strengthen national decision-making.
EURORDIS-Rare Diseases Europe and the wider rare disease community therefore recently published a joint position statement calling on the EU to establish a multi-stakeholder newborn screening group to support Member States in strengthening their programmes. The group could coordinate evidence reviews, develop EU-level guidance and facilitate data sharing, while supporting rather than replacing national decision-making.
Political commitment can enable earlier diagnosis
Experts commissioned by the European Commission proposed a similar EU-level approach more than a decade ago.3 Since then, screening technologies, evidence and treatments have advanced considerably. The evidence is there. What Europe now needs is the political commitment to turn it into more equal opportunities for earlier diagnosis and care across the EU.
[1] Eymere, S., et al. (2026) ‘Cost-effectiveness and public health impact of newborn screening for spinal muscular atrophy in France’, Applied Health Economics and Health Policy, 24, pp. 597–611. doi: 10.1007/s40258-026-01035-5.
[2] Dubief, J., et al (2024) Voices on newborn screening: The opinion of people living with a rare disease. Rare Barometer, EURORDIS-Rare Diseases Europe, Screen4Care.
[3] Cornel, M., et al. (2014) ‘A framework to start the debate on neonatal screening policies in the EU: an expert opinion document’, European Journal of Human Genetics, 22, pp. 12–17. doi: 10.1038/ejhg.2013.90.
