Rare diseases comprise a clinically and etiologically diverse group of conditions defined in the European Union by a prevalence of fewer than 5 per 10,000 in the population. More than 9,300 rare diseases have been described and 83% are of genetic origin (http://www.orphadata.org/). The individual conditions can be rare but collectively they are quite common, affecting about 30 million citizens in the EU. Without well organised systems to identify those affected, the early recognition of patients tends to be poor with a long diagnostic odyssey and consequently less than optimal outcome once the patient enters an appropriate clinical care pathway.

Previous technical meeting. To help improve the equity of provision of newborn screening and ensure that all children can be offered high-quality screening regardless of race, nationality and socio-economic status, a technical meeting, endorsed by the Slovenian Presidency of the Council of the European Union, was held in October 2021. Results of the meeting were published in a paper by Sikonja et al Int J Neonatal Screen. 2022 (8):31 and they record experiences from individual EU countries, stakeholder initiatives and the meeting’s final conclusions, to offer help to countries attempting to establish new screening programs or expand existing provision.