Accompanying event of the Slovenian Presidency on Newborn Screening – Recordings available
For some rare disorders, the early detection offered by newborn screening (NBS) can be life-changing and is able to prevent long term disability or even death. Despite this progress, the current situation regarding the NBS in the EU is rather inequitable with significant differences between individual member states. Over ten years ago, the Council of the EU and later the former Committee of Experts on rare diseases recommended coordinated action at the EU level while preserving national competencies in order to improve the current situation.
To help achieve equity and ensure that good practice becomes common practice, collaborative actions or activities which can benefit from the gathering of expertise at EU level should be explored. In particular, a dedicated expert forum needs to be established in the EU to bring together policymakers, patient group representatives and professionals able to share experience, explore the options and offer impartial advice. The European Reference Networks for Rare Diseases (ERNs) provide a natural framework from which to assemble and support a constructive and expert group.
Under its EU presidency, Slovenia spearheaded an initiative designed to enhance cooperation and equity in the provision of newborn and FH paediatric screening within the EU. The accompanying event of the Slovenian Presidency, “Achieving equity and innovation in newborn screening and in familial hypercholesterolemia paediatric screening across Europe”, had among its objectives to identify good practice in the field of NBS in the EU, define the main gaps and discuss outlines to improve the equity of provision in the field of NBS, and explore and agree on next steps to ensure a systematic and comprehensive approach to screening in Europe that leaves no-one behind. The meeting saw the participation of medical experts, policymakers at EU and national levels, patient organizations, representatives of the main professional organizations, regulators and HTA agencies.
Watch the recordings of the event, including the presentations of leading experts of MetabERN at the Youtube channel of the University Medical Centre Ljubljana