Implementing the UK Strategy for Rare Diseases

Implementation of the UK Strategy for Rare Diseases

A rare disease is generally considered as one affecting fewer than 5 people in 10,000. However, large numbers of people are affected by rare conditions. The UK Strategy for Rare Diseases estimated that in the UK alone, more than 3 million people will suffer from a rare disease at some point in their life.[1]

A significant proportion (around 80%) of rare diseases have a known genetic cause but other causes include infections, cancer and deficiencies or exposure to substances prior to birth. Due to the fact that relatively small numbers of people are affected by a particular rare disease, there are specific challenges in ensuring speedy diagnosis and access to appropriate services and treatments.

The UK Strategy for Rare Diseases was published in 2013. It aimed to raise awareness of rare diseases, and improve diagnosis, research and access to services for those affected.

This debate pack has been prepared for a Westminster Hall debate on Implementation of the UK Strategy for Rare Diseases. The debate has been tabled by Ben Howlett, Chair of the All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions.

The UK Strategy for Rare Diseases

In November 2013 the UK Department of Health and the devolved Governments published the UK Strategy for Rare Diseases.[2] This was the UK’s first strategy to help build understanding of rare diseases and boost research to find effective treatments and therapies. It set out 51 commitments to be delivered by 2020, addressing 5 key areas:

• empowering those affected by rare diseases;
• developing better methods of identifying and preventing rare diseases;
• improving diagnosis and earlier intervention for those with a rare disease;
• developing better coordination of care for those with a rare disease, including joined up consultation and treatment schedules; and,
• building on research to improve personalised approaches to healthcare for those with a rare disease.
• The strategy also highlighted the importance of collaborative working with patients, their families, industry, research and international partners.

Monitoring the progress of the strategy

The UK Rare Disease Policy Board was established in October 2016, and is responsible for the coordination of action to meet the commitments within the UK Strategy for Rare Diseases. The Board is made up of representatives of the UK departments of health, and rare disease charities such as Genetic Alliance.[3]

A larger group, the UK Rare Disease Policy Forum has membership from wider stakeholder groups. This group is responsible for providing insight and advice on the strategy and ensuring that those with a range of rare conditions are represented.

The first progress report of the Rare Disease Strategy, Delivering for patients with rare diseases: Implementing a strategy, was published by the UK Rare Disease Policy Forum in February 2016.[4] The report highlighted that there had been significant progress made since the publication of the strategy. Notable advances included:

• The establishment of the National Congenital Anomaly and Rare Disease Registration Service by Public Health England. This service records individuals with rare diseases across the UK and provides a valuable resource for clinicians and researchers.
• Improved research in rare diseases, for example the NIHR Rare Diseases Translational Research Collaboration (RD-TRC) which focuses on the causes, impacts and treatment of rare diseases.
• Improved approaches to diagnosis, for example greater access to genetic testing. The report highlighted the 100,000 Genomes Project and the establishment of regional genomics medicine centres.

Rare Disease UK (a national campaign for individuals with rare diseases) reported that there had been significant progress since the launch of the strategy, but called for improved collaboration across the UK:

The report from the UK Rare Disease Forum recognises that there has been significant progress towards delivering the commitments in the UK Strategy. For example, the 100,000 Genomes Project will transform molecular diagnostics across the UK and the creation of a unified registry of rare disease patients by Public Health England will have a significant impact on assessing, planning and research for rare diseases.

However, as ‘rare diseases do not recognise national boundaries’ the UK Rare Disease Forum is calling for the four nations of the UK to work together to meet the needs of patients. Collaboration is essential if the National Health Services in the UK are to deliver the specialist and coordinated care required for patients affected by these multisystem conditions.

The Chair of Rare Disease UK, Alastair Kent OBE said: “The publication of the first report of the UK Rare Disease Forum is a key stage in the implementation of the Strategy published by the UK Health Ministers in 2013. There has been solid progress in many areas, notably in research and the setting up of the National Congenital Anomaly and Rare Disease Registration Service. The needs of patients and families with rare diseases are now acknowledged in ways that would have been unimaginable only a few years ago, but much remains to be done to meet the ambitious commitment to improve care and support for rare disease patients in the original strategy by 2020. I am confident that this goal is an achievable one, given the commitment of the Government and the NHS to delivering on the promise made to the 3.5 million people living with rare diseases in the UK today.”

Life Sciences Minister, George Freeman MP said: “This report highlights the huge benefit that initiatives like our 100,000 Genomes Project and our £1bn per year National Institute for Health Research bring to people living with rare diseases and their families.”[5]

Implementation plans

All 4 UK countries committed to producing implementation plans to provide more information about how the strategy will be put into action.

These implementation plans have been published in Scotland[6], Wales[7] and Northern Ireland.[8] Links to these implementation plans are included below:

• Scottish Government, It’s not rare to have a rare disease:The Implementation Plan for Rare Diseases in Scotland
• Welsh Government, Rare diseases implementation plan
• Northern Ireland Government, The Northern Ireland Implementation Plan for Rare Diseases

In England, NHS England is responsible for implementing the rare disease strategy. It published a Statement of Intent in February 2014 that provides information on how its commitments will be achieved and working with partners to address the other commitments within the strategy[9].

A February 2017 report from the APPG for Rare, Genetic and Undiagnosed conditions, Leaving no one behind: Why England needs an implementation plan for the UK Strategy for Rare Diseases, has called on the UK Department of Health to publish an implementation plan.[10] The report states that NHS England is not in a position to act on a number of the commitments within the strategy and sets out how an implementation plan would improve the implementation of the strategy for patients with rare diseases:

The Department of Health should develop a comprehensive implementation plan that describes actions for its arm’s length bodies and anticipated dates for completion.

The APPG recognises that although the bodies responsible for delivering actions have developed successful programmes in response to the Strategy, the absence of an implementation plan, with defined timeframes, objectives for actions and a forum for collaboration, has resulted in poor coordination among bodies and therefore limited progress in achieving the aims of theStrategy. An implementation plan is not just a piece of paper: it is a tool for delivery, coordination, collaboration, communication and monitoring.

The development of an implementation plan for England would enable other stakeholders and bodies involved in the Strategy to coordinate activity on commitments where there is shared interest. It would send a clear message regarding the planned approach to delivering each aspect of the Strategy (which might include the decision not to proceed with a particular recommendation, due to a change in circumstance since the publication of the Strategy). This would enable stakeholder groups with an interest in progress towards implementation of specific commitments to understand which institutions they can work with to influence implementation, or which institutions they can expect to deliver implementation.

As with the implementation plans produced by the other home nations, the plan should include a date for review and update.[11]

In a recent Parliamentary Question response, the Minister for Public Health and Innovation, Nicola Blackwood, stated that the strategy needed to be translated into an implementation plan and said that it was one of her personal commitments:

First, let me pay tribute to my hon. Friend for his leadership of the APPG on rare diseases. I am sure he will join me in feeling proud that the UK is a recognised leader in research, treatment and care for rare diseases in particular. We are at the forefront of the genomics revolution. He is right that the UK strategy for rare diseases needs to be translated into an implementation plan, and that is one of my personal commitments.[12]

[1] Department of Health, The UK Strategy for Rare Diseases, November 2013

[2] Department of Health, The UK Strategy for Rare Diseases, November 2013

[3] Department of Health, UK Rare Disease Policy Board and Forum

[4] UK Rare Disease Forum, Delivering for patients with rare diseases: Implementing a strategy, February 2016

[5] Rare Disease UK, Delivering for patients with rare diseases: Implementing a Strategy, February 2016

[6] Scottish Government, It’s not rare to have a rare disease: The Implementation plan for rare diseases in Scotland ,June 2014

[7] Welsh Government, Welsh Implementation plan for rare diseases, February 2015

[8] Department of Health, Health Minister announces new innovative era of treatment for rare diseases, October 2015

[9] UK Strategy for rare disease, NHS England statement of intent, February 2014

[10] APPG for Rare, Genetic and Undiagnosed conditions, Leaving no one behind: Why England needs an implementation plan for the UK Strategy for Rare Diseases, February 2017

[11] APPG for Rare, Genetic and Undiagnosed conditions, Leaving no one behind: Why England needs an implementation plan for the UK Strategy for Rare Diseases, February 2017

[12] HC Deb 21 March 2017 c772