26/04/10

Rare Kidney Diseases: An Integrated Strategy for Patients in the U.K.

In June 2009 the EU Council adopted the final recommendation for European action in the field of rare diseases. This required member states to improve the access of patients with rare diseases to high quality health care. The importance placed on this in the UK is reflected in the 2009 Annual Report of the Chief Medical Officer in the chapter “Rare is Common”.

Executive Summary

Click here to download the full report

In June 2009 the EU Council adopted the final recommendation for European action in the field of rare diseases. This required member states to improve the access of patients with rare diseases to high quality health care. The importance placed on this in the UK is reflected in the 2009 Annual Report of the Chief Medical Officer in the chapter “Rare is Common”.

Contemporaneously, the Renal Association and the British Association for Paediatric Nephrology have developed a strategy for patients with rare kidney diseases. It contains our vision for improving standards of care and equality of access, and indicates how we intend to respond to the challenge. A special aspect of the strategy is the integration of clinical care pathways, diagnostic services, disease registers, translational research and audit. Central too is the participation and empowerment of patients at all of these levels.

Implementation of this strategy depends on three key developments

a) Development of disease-specific working groups

Working groups will be established for each disease or group of related diseases. They will develop proposals for seamless integration of diagnostic and treatment services, and patient information. They will undertake audit and research to improve the effectiveness of care pathways. Promotion of the provision of equity for all those with rare diseases, particularly those hitherto underserved, is central to this strategy. The planned governance structure for these groups within the Renal Association is designed to ensure that this evolves.

b) Development of care pathways

These will be disease specific and take into consideration the age of presentation, the nature and range of clinical manifestations, the diagnostic process, the logistics and constituents of treatment, co-morbidities, psychosocial issues and end of life care. They will also address the necessary balance between convenience of care closer to home and the need for highly specialized services that can only be provided in a few centres. Care pathways will be linked to specific, high quality information both for patients and clinicians.

c) Development of a UK Registry for Rare Kidney Diseases

An essential first step to understanding any disease is the collection of informative clinical data. A comprehensive UK Registry for rare kidney diseases (eponym Renal RaDaR) is being developed with MRC and Kidney Research UK funding. It operates within the UK Renal Registry, a highly sophisticated registry for patients with end stage renal failure. Here the existing technical expertise, management and governance structure will help to ensure success. The registry will seek longitudinal funding from capitation in respect of its audit function, and grants for specific projects.

Overall, the strategy offers a systematic and comprehensive approach. It demands a close collaboration between professionals, patients and their supporters. It addresses the needs of children and adults equally, and provides a base from which to resolve the difficult issue of transition of adolescents. It is poised to advance the commissioning of services to patients through a better understanding of rare diseases, response to treatment and the impact on individuals and families. The strategy is novel, open to evaluation, and likely to evolve further. The Renal Associations has the machinery to revise it in the light of experience. Although it is a national strategy it is outward looking, being aware that for many rare diseases sharing of information and expertise internationally is essential.

Click here to download the full report