Technical meeting on Achieving Equity and Innovation in Newborn Screening and in Familial Hypercholesterolemia Paediatric Screening across Europe Virtual event
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.
Following the first expansion of the NBS program in 2018, Slovenia is currently planning a further expansion of NBS to detect spinal muscular atrophy, severe congenital immune disorders (18 in all), cystic fibrosis and congenital adrenal hyperplasia; in total, over 40 congenital diseases. Due to significant technological developments in the last few years, expanded newborn screening has also become more accessible and has been introduced in several EU countries. It is likely that, in the future with a growing range of therapeutic possibilities, the need for further expansion of the NBS programme will increase markedly. The increasing use of genomics in this area is also likely with a broad range of societal, professional, and ethical implications.
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 competences 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 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 policy makers, 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.
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