UK Framework for Rare Diseases published

11/01/2020

The UK Framework for Rare Diseases, published on 09 January, outlines the principles behind how people with a rare conditions will be diagnosed, treated and cared for in years to come. It provides the backdrop for how services need to improve for rare disease patients and their families/carers.

Unusually for health, the Framework applies across all four nations of the United Kingdom, representing a collaborative, community-led vision. It aims to build upon existing UK strengths and improve areas of weakness deliver better health outcomes and improve the lives of those living with rare diseases. And it has a shared vision to address health inequalities, improve the quality and availability of care, and improve the lives of people living with rare diseases.

The Framework comes just two months after The Neurological Alliance published our recommendations care and treatment of people with rare conditions in our Out of the Shadows: what needs to change for people with rare neurological conditions report [link]. We believe the Framework provides a solid basis to improve the treatment, care and support available to people with a rare neurological condition, provided the plan is supported with investment and clear actions to be taken forward.

Phased approach

The UK Rare Diseases Framework is being developed in 2 key phases.

Phase 1 is the Framework that has just been published. It sets out a high-level vision for priority areas, and provides a strategic direction for the UK’s work on rare diseases across the next 5 years. It will be reviewed thereafter.

Phase 2 comprises the action plans that each of the nations will develop, highlighting steps they will take to meet the aims of the Framework. These action plans will be developed in close collaboration with the rare diseases community through additional engagement. They will be reviewed regularly (every 1 to 2 years).

Key Priorities

Key Priority 1. Ensuring patients get the right diagnosis faster

This section acknowledges that it often takes years for patients to get a diagnosis. It discusses the role that screening, as well as new, validated genomics approaches and diagnostic tools will have in contributing to improvements in diagnosis and screening. It sets out the vision for rare disease patients across the UK to get a final diagnosis faster and for research into previously unrecognised conditions to identify new rare diseases and provide new diagnoses.

Key Priority 2. Increasing awareness of rare conditions among healthcare professionals
This section states that awareness of rare diseases among healthcare professionals is raised as a key challenge by the rare disease community. It discusses the role of GPs, paramedics and A&E staff, and the additional education and training needed to inform their roles. This will inform patient care in relation to genomics, as well as in relation to non-genetic rare conditions which often rely on a clinical diagnosis. It sets out the vision for healthcare professionals to have an increased awareness of rare diseases and use of genomic testing and digital tools to support quicker diagnosis and better patient care.

Key Priority 3. Better coordination of care
This section recognises that multiple hospital appointments and complex condition management characterises care for many people with rare conditions, contributing to a significant care burden. It acknowledges that coordination of care is essential to ensure care is effectively managed, the burden on patients and their carers is minimised, and healthcare professionals provide joined up care. It discusses building on recent advancements in digital infrastructure. The stated vision is for rare disease patients to experience better coordination of care throughout the patient journey.

Key Priority 4. Improving access to specialist care, treatments and drugs
This section discusses the importance of access to treatments, and the use of innovative models of care so that patients can access care locally as far as possible. It also covers ensuring continued development and improved access to specialist expertise, treatments and drugs, encompassing continued support for research and the life sciences industry, and mechanisms for assessment of and access to rare disease medicines. The stated vision is for rare disease patients to have improved access to specialist care, treatments and drugs.

Underpinning themes

The Framework discusses a number of underpinning themes – key enablers that will support activities across the health and social care system. Of particular importance is ‘patient voice’, which acknowledges the insight and expertise that people with rare conditions, their families and carers have. Importantly, the Framework pledges that patient representatives will be consulted before any commitments are made. Other themes are:

• National and international collaboration
• Pioneering research
• Digital, data and technology
• Wider policy alignment

A brighter future for people with rare neurological conditions?

Our recent hard-hitting Out of the Shadows report strongly made the case that people with rare neurological conditions are being left behind when it comes to accessing the care and treatment they need. It highlighted that people with rare conditions reported worse experiences of care across many themes in our 2018/19 patient experience survey. Our report made a number of calls for change which are directly reflected in the priorities identified in the Framework, particularly in relation to faster diagnosis, improved awareness of rare neurological conditions, and better coordination of care.

Georgina Carr, Chief Executive of the Neurological Alliance, said:
“This Framework lays a solid foundation for what needs to change to improve the experience of care for the thousands of people affected by rare neurological conditions. We’re pleased that the Government has listened to what we and others have told them to prioritise, and that they have explicitly recognised the importance of engaging with patient representatives going forward in their underpinning theme of ‘patient voice’.

“However, given the previous framework was rendered ineffectual by the hugely delayed implementation framework for England, we now await the action plans that will be developed by the four nations to set out actionable, measurable commitments. We urge the respective Governments to produce these in a timely, and collaborative manner. People with rare conditions cannot, and should not have to wait any longer for essential improvements to their care. ”