The rare disease world is shaped by a few key overarching issues. Individual diseases have low patient populations, this is by definition of course, but it is worth acknowledging that many conditions have fewer than 1,000 people affected in the UK. There are very few treatments for rare diseases, the European Medicines Agency has licensed just 116 treatments since 2000. The low numbers of treatments seem worse when compared to the third characteristic of rare diseases: there are many thousands of them. Estimates range from 6,000 to more than 10,000 and numbers are increasing all the time as our understanding increases and more causes for undiagnosed conditions are identified, and others rare diseases are divided.
We have enormous unmet need spread through individually small patient populations. One of the keys to addressing this is collaboration and legislation within the European Union (EU) provide a framework for this collaboration to take place. The Clinical Trial Regulation and the Data Protection Directive (soon to be updated by the incoming Data Protection Regulation) both foster projects that can stretch across the 500 million population of the EU, solving the problems of small patient populations.
This collaboration is not only about regulation and infrastructure. The European Commission fostered a movement towards the voluntary production of national plans for rare diseases in 2008. The UK Strategy for Rare Diseases, which aims to improve research, diagnosis, information provision and coordination of care, was published in 2013, and we can be certain there would have been no such plan without the nudge from the Commission and without the parallel activity in all the other member states of the EU. The UK Strategy for Rare Diseases is already beginning to show progress in our understanding of how rare diseases affect the UK, and in improving our approach to rare disease healthcare delivery.
The value of a single market can be seen clearly in the rare disease sector – medicines for rare diseases (as well as cancer, HIV, diabetes and dementia) and medical devices get a single authorisation to be used in the EU. This can make the distribution of medicines for small populations cost effective, where it might be too expensive to go through regulatory procedures in multiple countries. This could be the difference between accessing a new treatment for a rare disease or not.
There’s certainty in the value that the EU brings to our rare disease community. We can be sure of maintaining this value if the UK stays. If we leave though, we can’t be sure of any of it. Of course, these incentives, networks and the infrastructure would continue to exist if Brexit occurs, and we might be allowed to engage with them again. But it is important to recognise that this positive environment for the rare disease sector was created by an EU with the UK as a leading member, with strong influence. As the regulations and directives are reviewed in the decade following a Brexit, we are likely to see this research aware, collaborative environment shift away from our needs. Regulations such as the Clinical Trial Regulation, Data Protection Regulation and Advanced Therapy Medicinal Products Regulation all benefited from UK influence to become the positive influences that they are now.
From the perspective of patients affected by rare diseases, an EU without the UK is likely to be an EU that we might not want to buy into. If patients affected by rare diseases in the UK are to get access to better care and more treatments, then their best chance is from within the EU.
Nick Meade, Director of Policy, Genetic Alliance UK
Nick Meade is Director of Policy at Genetic Alliance UK, the national charity of over 180 patient organisations supporting all those affected by genetic conditions, and a member of the Patients’ Network for Health and Medical Research (EGAN). Genetic Alliance UK’s and EGAN’s policy work focuses on research and innovation to facilitate progress towards cures and treatments for unmet health need, on the commissioning of healthcare services and access to therapies, on genetic testing and genomic technologies, and on reproductive choice.
Genetic Alliance UK’s work includes leading the Rare Disease UK campaign and the SWAN UK group which supports families of children with undiagnosed conditions; Nick works on both of these projects. Nick represents patients on panels and committees in the UK and Europe, including NHS England, UK Rare Disease Forum, UK Genetic Testing Network, National Institute for Health and Care Excellence and the European Medicines Agency.
On the 19th October 2015, Genetic Alliance UK’s trustee board decided that the charity would support remaining in the European Union (EU) in the EU referendum, and in doing so would limit the charity’s communications to the EU’s impact on those affected by rare and genetic disease. Genetic Alliance UK is not affiliated to any political party. Charity numbers:1114195 and SC039299