Delivering for patients with rare diseases: Implementing a strategy - A report from the UK Rare Disease Forum

Delivering for patients with rare diseases: Implementing a strategy

A report from the UK Rare Disease Forum

The publication of the UK Strategy for Rare Diseases in 2013, represented a landmark for patients with rare diseases. The Strategy was a result of close collaboration across all UK Governments and healthcare services which set out key recommendations that, when fully enacted, would transform the experience of patients with rare diseases and their care pathway. This report is the first from the UK Rare Disease Forum on implementation of the UK Strategy for Rare Diseases (the Strategy). There has been significant progress made in addressing many of the strategy recommendations but there is still a lot more to be done. Given that the Strategy was always planned to take until 2020 to fully implement this is to be expected. One of the key principles when drafting the Strategy was to ensure that the patient was placed at the centre of service development and decision making. The report shows that the role and importance of patients in the planning and delivery of care continues to grow. There are excellent examples of where the patient voice has been central to the design of new services and has provided key insights into the value and potential benefit of new treatments. The experience of patients is also important for both the appraisal and the commissioning of new therapies. It is essential to ensure that these welcome improvements go from strength to strength and become fully embedded in healthcare culture. There is a need to be vigilant and assure ourselves that, among the increasing challenging discussions that will need to be had in a health and social care world of competing and often conflicting demands, there remains a strong patient voice in the implementation of the Strategy and development of services. Access to standardised, high-quality data is the bedrock of understanding rare diseases, the development of innovative technologies and healthcare tools and supporting improved service delivery. Since the publication of the UK Strategy, there has been a considerable increase in the availability of high-quality information for rare diseases and this trend is likely to continue. The expansion of social media has opened up significant new opportunities for patients to form networks and support groups. This same technology also allows patients and their families to compare experiences, which can be useful in identifying where service provision can be improved. Healthcare providers too are active in adopting this technology to offer new forms of interaction and remote access to specialist healthcare. The creation of Genomics England and the building of whole genome sequencing capacity in the NHS holds the most potential to transform the diagnosis of rare disease. The 100,000 Genomes Project is still in its early phases but it is likely to have a significant and lasting impact on transforming molecular diagnostics across the UK. The creation of a unified registry of rare disease patients by Public Health England, with support from the Department of Health, is welcome and will have a significant impact on assessing, planning and research for rare diseases. It is a concern that codification of rare diseases is still an outstanding issue. Clear and consistent coding is essential to effective data sharing and analysis. Despite being widely recognised as an important factor in addressing rare diseases, there still does not be seem to be a single body with the ability or leadership to deliver a credible response to this key challenge. 5 Among pharmaceutical companies, there seems increasing recognition that understanding rare human conditions can provide unique and powerful insights into human biology and can directly influence the delivery of more targeted and effective technologies. The increasing subdivision of relatively common diseases might mean that more conditions fall within the definition of a rare disease. It seems probable that the adoption of strategies used by the rare disease community will be essential to manage the shift towards mainstream healthcare therapies and services being informed by the patient’s DNA data, leading to the provision of more personalised treatments. Rare diseases do not recognise national boundaries and this report emphasises the need for collaboration across the UK. Much of the care for patients with rare diseases is most effectively delivered via a small number of specialised centres and facilitating this will require careful UK-wide coordinated approaches to ensure patients all receive the best available care. Although the UK continues to be a world leader in rare disease research, it does so within a European and global context. This report provides a flavour of the initiatives that are taking place at EU level that will help establish broader networks and partnerships focused on rare diseases. The next report from the UK Rare Disease Forum is planned for 2018 and a number of specific challenges are likely to emerge in this period. The constraints placed on public expenditure will mean that budget pressures on all health and social care services will continue. The recent announcement of the outcomes from the 2015 Comprehensive Spending Review, while containing positive news such as the renewed commitment to the 100,000 Genomes Project, will shape this debate going forward and the Forum will continue to monitor the impact of the review. A related issue is how to maintain equity of access to services with a move to greater regional devolution in England’s healthcare system. The Forum will be interested to see the effect of the changes brought about by more regional decision making, for example initiatives such as those being put in place in Manchester, and their more general impact on health and social care provision. There will always be some underlying tension between those commissioning and those receiving health and social care services and support. Delivering many of the recommendations in the UK Strategy has the potential to save money in the long term, for example the time to obtain a diagnosis can take far too long and represents an inefficient use of resources. All too often, the time to obtain a diagnosis still takes far too long and represents an inefficient use of resources. A faster, more accurate and more informed diagnosis is not just better for patients and their families. It also represents a better use of resources by the healthcare system, avoiding patients being referred around the system and supporting families to return to a more settled, economically active, home life. Finally, I would like to extend my personal thanks to forum members for all their hard work and the UK health Departments and services to their continued commitment to implementing the Strategy. Alastair Kent OBE Chair, UK Rare Disease Forum Acknowledgements The UK Rare Disease Forum would like to express its thanks to all those who contributed material for the report. The process of capturing and collating the contributions to the report has depended on the support of the team at the Department of Health. Finally, a particular thank you is warranted for those patients who have agreed to share their individual experiences in the case studies.

full report (45 pages)