European rare disease community calls for sustained UK involvement in European Reference Networks post-Brexit

European Reference Networks

European Reference Networks (ERNs) connect patients, clinicians and researchers across Europe. They provide the infrastructure that allows knowledge about rare diseases to be shared across borders. ERNs have taken significant effort and investment to develop, and they form the most ambitious pan-European health collaboration.

Rare diseases individually affect fewer than 5 in 10,000 people ‒ many are much rarer ‒ but in total there are more than 6,000 rare diseases, collectively affecting around 30 million people in the EU. On an individual country basis, the likelihood is that there will be insufficient patient numbers, knowledge or capacity to independently deliver excellence in diagnosis and care for the overwhelming majority of rare diseases. This is the particular value of ERNs: they bring together rare disease expertise through virtual platforms, providing patients with access to diagnosis and transformative care, without the burden of long-distance travel.

ERNs facilitate research, by providing access to a clinical cohort of sufficient size to support clinical trials. They link researchers and healthcare systems to clinicians and patients, expediting innovation, access to knowledge and the development of new treatments. Prevention of rare diseases is also a major aim of ERNs.

At present, there are 24 thematic ERNs, involving around 20,000 healthcare professionals in 300 centres of excellence across 26 EU Countries. They  are already delivering substantial benefit to around 900,000 rare disease patients in the EU*. Brexit, however, poses a threat to the success of ERNs. Without continued involvement of the UK, the capacity of ERNs will be diminished and networks risk falling short of their ambition to raise standards and equity in rare disease care across the EU.

Value of UK participation in ERNs to the EU

The UK is a cornerstone of ERNs. It provides leadership, clinical expertise and produces cutting edge research and guidance ‒ benefiting patients across Europe and the UK. More broadly, the UK is a source of innovative ideas and experimental therapies in the field of health research.

The UK is involved in 23 out of 24 ERNs and previously held leading roles in 6 of them. In total, approximately 40 UK centres of excellence comprising 114 participating UK specialist units are involved in ERNs; this accounts for around 10% of the ERN healthcare workforce. UK facilities care for approximately 150,000 rare disease patients*: this is a significant percentage of all patients receiving care and treatment through ERNs.

UK participation is also higher than that of any other country for a number of ERNs. For instance, UK hospitals constitute almost a quarter (24%) of members, within the ERN on craniofacial anomalies and ear, nose and throat (ENT) disorders; and the UK represents just over a third (34%) of membership in the ERN on bone disorders.

As one of the most significant contributors to ERNs, UK withdrawal from ERNs would be a major blow for rare disease patients and families across the EU. This breakdown of collaboration would come at the expense of the lives and wellbeing of patients and families in the UK and across the EU.

The value of participation to the UK

The EU has been a leader in driving better care, treatment and outcomes for families affected by rare conditions, most recently through ERNs. Collaboration and the exchange of life-saving knowledge at European level ensures that rare disease patients in the UK benefit from the best treatment and advice available for their specific condition.

An estimated 3.5 million people in the UK will be affected by a rare condition at some point in their lives. Just as the UK’s contribution to ERNs will be missed in the EU27, separation from ERNs will be a significant setback to the UK’s capacity to deliver and improve rare disease care. As part of the delivery of ERNs, the European Commission has provided the first clinical platform able to share patients’ data and enable the discussion of  difficult cases between disciplines and between multinational experts. The UK’s exit from ERNs will mean that this infrastructure will not be accessible to UK providers, and that EU providers will not benefit from the expertise of the UK clinicians.

The UK Government has publicly recognised the value of ERNs, and the July 2018 White Paper: The future relationship between the United Kingdom and the European Union states that the ‘UK should seek to participate in specific policies and networks which benefit […] patients across the UK and the EU, including: the European Reference Networks, which support European cooperation and knowledge sharing related to clinical care and research on rare diseases.’

The time to act is now

For too long patients and families affected by rare conditions across Europe have had to struggle to access a correct diagnosis, specialist knowledge, and appropriate treatment. ERNs offer a unique opportunity to transform care and treatment for patients, but only if we can maintain momentum and ensure they can utilise all the specialist knowledge and health data available to them.

We the undersigned, call upon the European Commission and the 27 other members of the EU to work with the UK Government to secure the sustained involvement of the UK in European Reference Networks, thereby ensuring that the lives and wellbeing of rare disease patients and families are protected.

About our ERN statement

On Monday 9 July the All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions held a meeting on the effect of Brexit on ERNs. Eight speakers from across the rare disease community spoke about the importance of the UK’s continued involvement in ERNs. You can read more about the event here. From this event, Genetic Alliance UK (the secretariat of the APPG) in collaboration with guest speakers and attendees developed a statement on the value of sustained UK involvement in ERNs post-Brexit.

*These figures are from unpublished research undertaken by Professor Maurizio Scarpa, Director of the Centre for Rare Diseases Helios Dr Horst Schmidt Kliniken and Coordinator of the European Reference Network on Hereditary Metabolic Diseases.