This blog was written by Victoria Hedley who is the RD-ACTION Thematic Coordinator at Newcastle University John Walton Muscular Dystrophy Research Centre. Here she talks about the importance of European Reference Networks to rare disease patients in the UK.
What are European Reference Networks?
At present, European Reference Networks (ERNs) are… well, pending! But not for long. Five years after the publication of the Directive on the Application of Patients’ rights in cross-border healthcare (Directive 2011/24/EU), which enshrined the concept of ERNs, Europe is at last on the cusp of an innovation in highly specialised healthcare. By early January, the outcomes of the 2016 call for ERNs will be announced and we will have the first officially approved Networks. ERNs will be networks of expert centres providing highly specialised healthcare, intended to improve access to diagnosis, treatment and high-quality care for patients with conditions requiring a particular concentration of resources or expertise (which is unlikely to be found in a single EU Member State). As we know, in fields like rare diseases and rare cancers, it is not only advantageous but actually essential to collaborate across borders to deliver care and provide highly specialised interventions; it is difficult for any single centre in any European country to reach the ‘critical mass’ of patients needed to push the frontiers of knowledge and research.
Why should rare disease patients pay attention?
From the outset, it was acknowledged that rare diseases will be a prime beneficiary of these Networks. ERNs offer real potential to improve the equity of access across Europe to the best specialists in a given disease, to exchange good practices and embed them in your clinical care closer to home, and to drive forwards the pace of knowledge generation and research (which for many rare diseases is the only route to treatments for these conditions).
How exactly will ERNs add value?
Once established, and connected by a dedicated IT platform, the Networks will support the exchange of knowledge and expertise between healthcare providers operating at the top of their game. Each Network must have at least ten member Healthcare Providers (HCPs) from at least eight Member States (in reality, many ERNs will be significantly larger than this, with some of the current proposals involving over 60 HCPs). It is important to emphasise that wherever possible (and appropriate), expertise will travel rather than the patients themselves. In practice, this will entail a significant degree of virtual healthcare provision. So, imagine that a clinician is struggling to determine the best way to diagnose a patient with a suspected rare neurological condition. After ruling out the most likely causes of their symptoms, our clinician will, in future, be able to ‘refer’ said patient to a Rare Neurology ERN, through a national ‘gateway’ centre (which will be either a member of the Rare Neurology ERN, or else an ‘affiliated’ partner of that network). By securely sharing essential clinical information with the top experts in the most relevant specialism, the ERN experts will offer the best chance of finding a diagnosis for that patient.
It is important to note that the existence of ERNs will not affect a patient’s rights to seek cross-border care; however, they will make a huge impact in allowing expertise to travel, and they will support the generation of evidence-based clinical practice guidelines, help the rare disease stakeholder community to reach a ‘critical mass’ of data through registries, facilitate research, and drive forward the pace of innovation and translation in developing and delivering therapies for rare diseases.
Where do patients sit in all of this?
The guidance for ERNs is clear that “patients and patient representatives should play an integral role in the decision and opinion making process in rare disease ERNs and be involved in structural and clinical network activities”. To enable this, the European Organisation for Rare Diseases (EURORDIS) has initiated a democratic patient representation scheme, establishing European Patient Advisory Groups (ePAGs) for the ERNs.
What is the status quo and what’s next?
24 proposals for ERNs along broad thematic disease lines (e.g. rare renal, rare metabolic) were submitted to the European Commission in summer 2016. The proposals are currently being evaluated by an Independent Assessment Body, and the final approvals will be agreed by the Board of Member States of ERNs when it meets next in mid-December.
To ensure the ERNs capitalise on the fruits of past national and European investment, the Joint Action for Rare Diseases (RD-ACTION) is continuing to support the prospective Network communities in developing shared guidance and good practices to tackle shared challenges, such as maximising the value of data, establishing or integrating registries, developing knowledge and information resources, and conducting research. Recent meetings have emphasised the importance of the national role in these new, pan-European infrastructures: for ERNs to realise their potential to improve the quality and accessibility of highly specialised care and research, they need to be embedded in national health systems. There is a role here for Member States (and EEA countries) to consider carefully how ERNs will complement the rare disease patient pathways already in place (hopefully) at the national level.
Finally, a word of caution, and a plea: 6 of the 24 applicant Networks stand to be coordinated by UK HCPs. Many more centres and Trusts have applied to join networks as members. The UK has much to offer in terms of rare disease expertise, but it also has much to gain; therefore, in view of the (in my personal view, deeply regrettable) outcome of the June referendum, our health and research policy-makers must ensure that the UK’s role in such initiatives and innovations are not threatened by a ‘Brexit’, whatever shape this will take: and for this, each of us will need to be ready to make our voices heard.