The first part of the day focussed on developments over the past year related to the UK Strategy for Rare Diseases across all four nations. These included five minute presentations from: Alastair Kent, Chair of UK Policy Board; Rachel Butler, All Wales Genetics Laboratory, discussing Studying the Implementation of Genomics in Wales (SIGNAL); Professor Keir Lewis, Swansea University, discussing Wales Orphan and Rare Lung Diseases (WORLD); Fiona Marley, NHS England; and Ryan Wilson, Department of Health, Northern Ireland.
During these updates it was noted that meaningful cross-border collaboration within the UK and across Europe will be vital post Brexit. In relation to the UK Strategy for Rare Diseases, it was acknowledged that although progress has been made, there is much more to be done to achieve the 51 commitments within the document by 2020. Participants raised the need to consider the future of the Strategy after the 2020 deadline, especially given the many developments and changes in the rare disease landscape since the Strategy was published in 2013.
The second part of the day was split into three workshops identifying the challenges and opportunities for rare diseases:
- Identifying and preventing rare diseases, and data collection, sharing and storage in the rare disease context
- Diagnosis and genomics, early intervention, care pathways and care coordination
- Participation, prioritising and funding research, maintaining links with international partners, and European Reference Networks.
Identifying and preventing rare diseases, and data collection, sharing and storage in the rare disease context
During this workshop, attendees identified a need to raise public understanding and awareness of the benefits of health data sharing. Data sharing is an important part of rare disease research and development. In comparison to the general population, rare disease patients are more likely to see value and participate in sharing their health data.
This session also highlighted a need for greater cross border collaboration, different policies, legislation and techniques can hinder meaningful progress within small patient populations. At present, the four nations of the UK are working independently on their respective implementation plans.
Diagnosis and genomics, early intervention, care pathways and care coordination
There is a need for the healthcare system to identify the ‘red flags’ of rare diseases to improve the care pathway and the diagnostic odyssey. Care pathways should involve referrals to specialist centres where possible, but this is not routinely happening. This may be due to lack of awareness of centres, or a lack of time to research where specialist centres are available. It was felt that NHS England have a responsibility to create awareness of specialised services and provide guidance on how to refer patients. Information and support is vital for rare disease patients and there is a need for more access to signposting and for better coordination of care. For example, genetic counsellors could support patients throughout their rare disease journey – but there are a limited number of genetic counsellors available.
Participation, prioritising and funding research, maintaining links with international partners, and European Reference Networks
This breakout session focussed on the importance of participation in research and engaging with patients and patient groups. In particular, attendees agreed that there is a need for collaboration across the nations within rare diseases and for research and trials to be rolled out across the whole of the UK rather than in the four nations individually. Following the UK’s exit it will also be important to continue collaboration across Europe and attendees highlighted Genetic Alliance UK’s #ProtectERNs campaign as key driver to encourage joint working.
There is just over a year left until UK Strategy for Rare Diseases reaches its deadline. Whilst there have been developments in rare diseases since the publication in 2013 there is a continued importance for the Strategy. The Strategy needs to continue past the deadline of 2020, in order to develop research, expertise, knowledge and patient involvement. The Rare Disease UK campaign will continue to call for a review and refresh of the Strategy to ensure no one gets left behind just because they have a rare disease.
THE UK RARE DISEASE FORUM
The aim of the UK Rare Disease Forum is to provide comprehensive stakeholder insight and advice on the main issues, challenges and risks to meet the 51 commitments in the UK Strategy. The Department of Health claim that membership of the Forum is broad and wide-ranging but details of the membership are not publicly available.
THE UK RARE DISEASES POLICY BOARD
The role of the UK Rare Diseases Policy Board, established in 2016, is to facilitate the co-ordination of policy development across the UK to help deliver the UK Strategy for Rare Diseases.