ERN RITA and Screen4Rare: Call to action for a newborn screening for rare diseases

Screen4Rare is an initiative launched by the International Patient Organisation for Primary Immunodeficiencies (IPOPI), the International Society for Neonatal Screening (ISNS), and the European Society for Immunodeficiencies (ESID). A number of Members of the the European Parliament and a number of supporting organisations, such as the European Reference Network for rare and low prevalence complex diseases (ERN RITA) have called the European Commission (EC), and Member States, to take action regarding the improvement of mechanisms that will help the assessment and adoption of Newborn Screening for Rare Diseases (NBS for RD) by all EU Member States. European Union cooperation on NBS for RD is still an underdeveloped area, according to the call. NBS for RD can play a great role in improving healthcare and mortality rates for rare diseases.

The call for action includes the following actions for equality access of all EU Citizens to life-saving preventive programmes: the development and implementation of NBS for RD guidelines, close collaboration within the European Commission Steering Group on Health Promotion and Prevention, for the creation of an EU platform on NBS for RD, and to work actively to have the EU on the top level for data collection and information on NBS for RD practices, and for exchange of best practices.