UK Strategy for Rare Diseases

Date: Wed 7th February 2018

We're delighted to announce that through our work with RAIRDA the implementation plan for the UK Rare Disease Strategy now references rare non-genetic conditions. In the original strategy only rare genetic conditions were referred to. Through our work with RAIRDA, our alliance between the British Society for Rheumatology, Lupus UK and Vasculitis UK we have managed to ensure that rare non-genetic conditions receive the same commitment from NHS England and the Department of Health and Social Care (DHSC).

UK Strategy

The publication of the UK Strategy for Rare Diseases in 2013 represented a landmark for patients with rare diseases. It is the first time all four health departments of the UK have come together to recognise and respond to the needs of all those affected by rare diseases. The aim of the Strategy is to 'ensure no one gets left behind just because they have a rare disease'.

In the UK it is estimated that 3.5 million people will be affected by a rare disease at some point in their lives. Despite the scale of the issue, a significant proportion of these patients do not have access to the right care and treatment.

There are many examples of excellent practice for those with rare diseases throughout the UK, but unfortunately these are more often the exception rather than the rule.

The Strategy contains 51 commitments to ensure that health and social care systems across the four nations provide those living with rare conditions with the highest possible quality of evidence-based care and treatment, regardless of where they live in the UK.

Key features of the strategy

  • A clear personal care plan for every patient that brings together health and care services.
  • Making sure patients, their families and carers have the information they need, are listened to and consulted.
  • Developing better methods of identifying and preventing rare diseases.
  • Improving diagnosis and earlier intervention for those with a rare disease.
  • Better education and training for health and social care professionals.
  • Building on research to improve personalised approaches to healthcare for those with a rare disease.

Implementation plans across the nations

England

We are pleased that the Department of Health and Social Care and NHS England have finally published plans detailing how they will implement the UK Strategy for Rare Diseases– four years on from its publication. This is promising news for the 3 million people who will be affected by a rare condition at some point in their lives in England. Administrations in Scotland, Wales and Northern Ireland have all developed plans to implement the UK Strategy for Rare Diseases. Publication of the England implementation plans has come about as a direct result of Rare Disease UK's campaign.

The plans from the Department of Health and Social Care and NHS England detail how the two bodies will work in parallel to ensure that:

  • those living with rare conditions have access to high quality care and treatment. In particular, the plans seek to improve care coordination. If successful, this will mean more families will have access to 'a continued point of contact' that can help manage hospital appointments and provide emotional and practical support.
  • facilitate earlier diagnosis, reducing the time that patients and families have to spend bouncing from one healthcare professional to another. A correct diagnosis can open the door to appropriate treatment and access to the right support.
  • research into rare diseases is strengthened and incentivised. Research is a vital tool for increasing knowledge and availability of treatment options for patients with a rare disease.

The decision to deliver two separate plans poses a challenge for their delivery and monitoring. We will be following initial delivery of these plans closely to assess how the plans connect with each other, looking for gaps and overlaps.

The All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions inquiry into the implementation of the UK Strategy for Rare Diseases was a key turning point our campaign. Following the publication of the APPG's report Leaving No One Behind: Why England needs an implementation plan for the UK Strategy for Rare Diseases and a Westminster Hall Debate on the issue, we secured ministerial guarantee that plans for England would finally be delivered.

Scotland

The Scottish Government vision is that by 2020 everyone is able to live longer healthier lives at home, or in a homely setting. We will have a healthcare system where we have integrated health and social care, a focus on prevention, anticipation and supported self-management. We are committed to pursuing the three quality ambitions of safe, effective and person-centred care, as set out in the Quality Strategy and our 2020 Vision and accompanying Route Map.

Rare Disease UK estimates up to 300,000 people in Scotland's population may be affected by a rare disease over their lifetime. They also suggest many people with a rare disease in Scotland have experienced delays in gaining a diagnosis, with several getting a number of diagnoses on the way. Among health professionals understanding of rare disease was said to be patchy.

The Implementation Plan for Rare Diseases in Scotland aims to improve services for people living with a rare disease and their family members:

The plan describes the excellent work already carried out across the NHS in Scotland, universities, enterprise, industry, social care and the third sector in supporting people with rare diseases and sets out actions to make progress in priority areas. It acknowledges the importance of timely and accurate diagnosis to allow appropriate treatment to start and to give people with rare conditions and families access to support services.

This Scottish Plan underpins delivery of the UK Rare Disease Strategy, which in turn supports the drive in Europe to improve rare disease services.

Our Implementation Plan was prepared in discussion with specialists, NHS Boards, the third sector and patients. It sets out how Scotland will deliver commitments across five areas over the next five years:

  • Empowering those affected by rare diseases
  • Identifying and preventing rare diseases
  • Diagnosis and early intervention
  • Co-ordination of care
  • The role of research


Wales

The Welsh Rare Disease Implementation Group is the body responsible for oversight of the delivery of commitments within the Welsh Rare Diseases Implementation Plan, which was launched in February 2015.

The group is made up of representatives from across the NHS in Wales's specialised services and genetics services, the research community, patient groups as well as individual patients. The group is chaired by Dr Graham Shortland, a paediatrician who specialises in metabolic conditions and is also Medical Director of Cardiff and Vale University Health Board, the main hub for genetics services in Wales.

The Implementation Group meets numerous times a year to report on progress from across Local Health Boards and other organisations with responsibility for delivering the plan's commitments. At the meeting on 10 January 2017, the group discussed priorities for Local Health Boards (LHBs) to focus on for 2017/18 and ways in which collaboration can support the delivery of commitments across organisations and sectors.

Each year LHBs must produce Integrated Medium Term Plans (IMTPs). This involves a process to review and plan their future strategy, key priorities and delivery actions. The plans are submitted to the Welsh Government to ensure that they are meeting their obligations in relation to the key Delivery Plans developed by Welsh Government (the Rare Diseases Implementation Plan is one of these). At present, these IMTPs are being collected together by planners in each area. They must reflect the priorities set out by the group in meeting their obligations to deliver commitments.

Priorities for 2017/2018 include:

  • Identifying the support pathway for patients with whose diagnosis is unknown (The 'Diagnostic Odyssey');
  • Ensuring better use of best practice and evidence in primary and secondary care and improving pathways for accessing specialist services;
  • Undertaking significant event analysis following delayed diagnosis of a rare disease and shared evidence learning;
  • Ensuring feedback from patients is used to enhance rare disease pathways within health boards.

Northern Ireland

In 2015, Northern Ireland Executive Health Minister, launched 'Providing High Quality Care for people affected by Rare Diseases – The Northern Ireland Implementation Plan for Rare Diseases'. The Plan reaffirms Northern Ireland's commitment to effectively implement the UK Strategy for Rare Diseases and ensure that people living with a rare disease have access to the best evidence-based care and treatment that health and care services, together with charities, research and industry can provide.

The Plan identifies a range of actions to be taken forward in Northern Ireland during the period 2015-2021 in relation to the 51 Commitments in the UK Strategy for Rare Diseases. Northern Ireland follows Wales and Scotland in detailing how they plan to address these commitments.

The actions committed to by the Department of Health, Social Services and Public Safety in Northern Ireland (DHSSPS) include (but are not limited to):

  • A continued commitment to work with their patient partners, including our partners in Northern Ireland the Northern Ireland Rare Disease Partnership (NIRDP) and other patient groups.
  • An agreement to consider adopting the Generic Rare Disease Annex for all service specifications, currently being developed by NHS England, which will outline requirements and considerations that need to be made for rare disease patients (including in diagnostic pathways and specialist centres).
  • Identifying genetic services as a priority for progress and working to develop a service specification for medical and clinical genetics – which should enable all individuals with genetic conditions to access the tests they need to get a diagnosis.
  • Steps to facilitate the creation of a Northern Ireland register of rare diseases – this could help provide important information about the frequency and nature of rare diseases.
  • The announcement of a £3.3million investment in the establishment of a Genomics Medicine Centre in Northern Ireland, working with Genomics England, and participating in the 100,000 Genomes Project.
  • Work to identify areas which would benefit from cross border collaboration with the Republic of Ireland to maximise patient benefit.