Implementation of the UK Strategy for Rare Diseases in England

Throughout November, the All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions hosted a series of hearings seeking to understand why there isn’t an implementation plan for the UK Strategy for Rare Diseases in England, and what impact this is having on rare disease patients and families.

Supported by Rare Disease UK, the APPG met with representatives from the Department of Health and its arm’s length bodies to discuss the implementation of the Strategy’s 51 commitments which address patients’ treatment and care, as well as research into rare diseases. All four nations of the UK have agreed to implement the Strategy by 2020. While the departments of health in Scotland, Wales and Northern Ireland have all developed implementation plans, the Department of Health in England has not.

At the initial hearing held on Tuesday 1 November in Portcullis House, Westminster, APPG members heard directly about the impact the absence of an implementation plan is having on the diagnosis and care rare disease patients receive. Patients and patient representatives attending felt that:

  • There was a lack of coordination between health and social care services, something the Strategy aims to improve.
  • The absence of an implementation plan for England is detrimental for the devolved nations. Without an implementation plan, it is not clear which body in England health services in the devolved nations should coordinate with.
  • Leaving the EU could have a negative impact on research collaboration and patients’ access to clinical trials.
  • It too often falls to patient organisations to fill gaps in coordination of care, service provision and research.
  • Patients face a number of mental health problems resulting from both neurological changes that occur with their condition, and the psychological impact of living with a rare disease. Rare disease patients’ mental health is often overlooked in their care coordination.

At the second hearing, on Monday 7 November, representatives from the National Institute for Health Research (NIHR), Public Health England (PHE) and the Department of Health were given the opportunity to respond to issues raised by the patient community and address concerns about the absence of an implementation plan in England. It was recognised that the NIHR, its Rare Disease Translational Research Collaboration (RD-TRC), and PHE were supporting developments to implement a number of the Strategy’s commitments concerning research and patient empowerment. The RD-TRC’s work on public and patient involvement in research provided just numerous examples of best practice. Patient representatives nonetheless felt that it was difficult to communicate these positive developments to patients without a document outlining the overall plan for implementing the 51 commitments. The Department of Health explained its contribution to successful projects such as the 100,000 Genomes Project and the development of European Reference Networks.

The final hearing on Tuesday 15 November provided representatives from NICE and NHS England with the opportunity to contribute to the APPG’s inquiry and respond to issues raised at earlier hearings. Because it is not able to influence all 51 commitments outlined in the Strategy, NHS England felt it should not be responsible for developing an implementation plan. NHSE and NICE outlined how the two bodies have progressed with the implementation of a number of commitments relating to access to medicines, patient involvement in commissioning decisions and coordination across health and social care systems.

Evidence collected at these hearings, along with that submitted by patients and stakeholders, was used by the APPG to develop a report outlining its findings, and calling for the Department of Health to develop an implementation plan.


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