Call to Action – Newborn Screening for Rare Diseases

The European Union’s (EU) added value in the field of rare diseases is well known. From the European Reference Networks (ERNs) to the EU research funding programmes, positive strides have been taken on health-related matters. Extrapolating best practices from Member States has also played a crucial role and it is undoubtedly clear that this extrapolation has improved the lives of rare disease patients.

In the field of rare diseases, gathering data on prevalence through regional or national pilot projects over short periods of time can be problematic, especially in those countries with low population or birth rates. For this reason, there is an urgent need to improve the mechanisms by which NBS is assessed and adopted by different EU Member States, for all newborn EU citizens to have the same access to life-saving preventative programmes. Currently, there is no EU centralized body or resource that can act to recommend, guide or share data on newborn screening practices. This leads to the slow uptake of newborn screening in Member States, a live saving tool for babies.
In light of the above, the undersigned Members of the European Parliament, together with the supporting organisations, including Screen4Rare, a multi-stakeholder initiative launched by the International Patient Organisation for Primary Immunodeficiencies (IPOPI), the International Society for Neonatal Screening (ISNS), the European Society for Immunodeficiencies (ESID), are calling on the European Commission and Member States to:

  • Develop and implement overarching guidelines in the field of newborn screening for rare diseases. This will ultimately:
    a) Assist Member States in having a much better-informed assessment of a new NBS technique.
    b) Help Member States in preparing their healthcare systems for the implementation of a NBS for a specific rare condition

  • Work together within the European Commission Steering Group on Health Promotion and Prevention to develop an EU-wide platform on newborn screening for rare diseases and pool from the expertise of recognised societies working in the field. This can be achieved by following-up on the 2012 report on practices in the field of neonatal screening for rare disorders where several crucial recommendations were identified including the creation of a European newborn screening standing committee and a recommendation stating that EU collaboration could have significant added value in encouraging uptake of the newest scientific evidence in newborn screening among Member States.

  • Cooperate to position the EU as the central point for data collection and information on rare diseases newborn screening practices and encourage the exchange of best practices that would support Member States’ efforts in the development of newborn screening practices according to the existing science, knowledge, and know-how.

Founding Organisations

Supporting Organisations