October 20, 2025
Strengthening Newborn Screening for Rare Diseases in Europe
Screen4Rare and the MEP Alliance for Rare Disease Newborn Screening organised a high-level meeting at the European Parliament on 23 September 2025 to discuss the future of newborn screening (NBS) for rare diseases. IPOPI, as a co-founder of Screen4rare in collaboration with the European Society for Immunodeficiencies (ESID) and the International Neonatal Screening Society (ISNS), was amongst the speakers.
Hosted by MEP Tomislav Sokol (EPP, Croatia) and moderated by Johan Prevot (IPOPI Executive Director), the event gathered multiple Members of the European Parliament, including Sirpa Pietikäinen (EPP, Finland) and Billy Kelleher (Renew, Ireland). MEPs in attendance called for a renewed EU Rare Disease Action Plan that integrates newborn screening as a cornerstone of health innovation and equity across Member States. They highlighted the need for EU-level guidelines, benchmarking, and support to accelerate progress, underlining that “newborns cannot wait.”
From the patient and expert community, Johan Prevot (IPOPI) and Peter Schielen (ISNS) emphasised the urgency of addressing disparities in NBS implementation across Member States. Prof. Maurizio Scarpa (ERN MetabERN) showcased the European Reference Networks (ERNs) as a flagship EU achievement, and Prof. Jim Bonham (ISNS) presented the newly proposed ERN advice and best practice contact point, recently welcomed by the ERN Board of Member States, which can ensure evidence-based guidance for all Member States.
Highlighting the future of screening, Prof. Lennart Hammarström (Karolinska Institutet) outlined the potential of genomic newborn screening to transform early diagnosis and treatment of rare diseases—provided it is implemented responsibly, with appropriate governance and safeguards.
The discussions converged on a clear consensus: Europe has both the means and the moral imperative to act. Embedding newborn screening within the EU Life Sciences Strategy and Biotech Act, adopting a new Rare Disease Action Plan, and supporting genomic innovation will be key to ensuring every child in Europe has equal access to life-saving early detection, diagnosis and benefits from timely care.
