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Rare voice in policy

The voice of people with rare conditions feeding into The UK Rare Diseases Framework

The voice of people with rare conditions is essential in the implementation efforts of the UK Rare Diseases Framework to ensure that the needs of people affected by rare conditions are answered.

England Rare Diseases Action Plan Questionnaire 

The England Rare Diseases Action Plan will be published to coincide with Rare Disease Day in February 2022.

As part of the efforts to ensure that the patient voice is at the centre of the plan, there is now a questionnaire gathering feedback from the community on the draft actions that have been developed for inclusion in England’s Action Plan.

The questionnaire is open to all members of the rare disease community. Because the questionnaire focuses on England’s action plan, we would ask that you only complete it if you (or your organisation) are based in England or if your organisation is involved in work across the UK.

The questionnaire closed on 26 November 2021.

Implementation Boards 

The implementation of the UK Rare Diseases Framework is happening through three types of body. 

The UK Rare Diseases Framework Board provides UK wide coordination between the four nations, acting at a high level to ensure that rare disease policy works together across the UK. In this board there are two patient representatives who represent the community.

Delivery groups

At the nation-specific level are the delivery and implementation groups, working to write action plans which align with the UK Rare Disease Framework as well as being tailored to suit the different systems of the devolved nations. Each group has decided different methods of engaging with the rare disease community. 

  • England Action Plan Delivery Group has two representatives
  • Wales Rare Disease Implementation Group has one representative from Genetic Alliance UK as well as a patient engagement group
  • Scotland Rare Disease Oversight and Implementation Group has one representative from Genetic Alliance UK as well as a patient engagement group
  • Northern Ireland Action Plan Delivery Group has one representative

The UK Rare Diseases Forum 

The UK Rare Diseases Forum acts as an online live engagement platform where the wider community can discuss issues around the four priorities of the Framework and put forward actions. This forum feeds directly into the delivery group discussions and informs decision-making. It is also a space to receive updates on the progress of the implementation of the Framework and where related policy papers and reports can be shared by the stakeholders. 

The forum is an essential part of the implementation efforts, allowing engagement with the wider community into the development of the action plans and ensuring the representation from a wide variety of rare conditions. 

To request to join the UK Rare Diseases Forum, express your interest via this google form

Alongside this online platform, the UK Rare Disease Forum Stakeholder Meeting operates as a smaller group of stakeholders which feed into the Framework Board meetings. The membership includes several patient representatives speaking on behalf of all people affected by rare conditions.

Genetic Alliance UK 

Genetic Alliance UK has several representatives in these groups and works with all of the representatives to support the accurate representation of the whole rare disease community. 

We provide a space for collaboration between the representatives and with other patient organisations through the Patient Engagement Group (PEG), of which we are the secretariat. 

The meetings of PEG in 2021 have evaluated each priority and the underpinning themes in turn. The meetings allow patient organisations to share insight and produce collaborative input so that the needs of the community are clear to the representatives feeding into the implementation efforts. 

Read about the activities of PEG.

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