Implementation of the UK Rare Diseases Framework

Patient Empowerment Group

Following the publication of the UK Rare Diseases Framework, Rare Disease UK’s Patient Empowerment Group (PEG) has held a number of meetings to discuss the four priorities and five underpinning themes of the Framework. Below is a short summary of each meeting:

Diagnosis: 19 May 2021

The topic of discussions for this meeting focussed on priority one of the UK Rare Diseases Framework: helping patients get a final diagnosis faster. The session considered newborn screening and looked at the progress of the joint campaign launched by Georgina Morton at Archangel MLD Trust and Nickie Aiken MP to reform the newborn screening landscape. There were presentations from guest speakers, Dawn O’Neill and Lauren Watson from Genomics Science and Emerging Technologies, Department of Health and Social Care. 

Access to specialist care and treatment: 10 June 2021

First discussed was recruitment to patient and public involvement roles at the Department of Health and Social Care and the connection between the meetings hosted by Public Policy Projects and PEG, and the UK Rare Diseases Framework Board/Implementation Group meetings. The main topic of this meeting focussed on priority four of the UK Rare Diseases Framework: improving access to specialist care treatment and drugs. Nick Meade, Director of Policy and Joint Interim Chief Executive at Genetic Alliance UK, presented an overview on specialised services, unmet needs and assessment, global view, and parallel activity. The discussion covered issues around guidelines, telemedicine and access to tertiary level clinics. Additionally, repurposing drugs was covered.

Awareness among healthcare professionals: 8 July 2021

This session covered priority two of the UK Rare Diseases Framework: increasing awareness of rare diseases among healthcare professionals. Beforehand, debriefs were given on meetings of the implementation groups of the four devolved nations. 

Dr Lucy McKay, Chief Executive of Medics 4 Rare Diseases gave her perspective on priority two.  Whole system signalling in the NHS and worrying trends were highlighted. Following the presentation, the floor was opened to questions and discussion on priority two including issues such as discrimination, intersectionality and who holds the responsibility of training healthcare professionals.

A young man in a red jumper, sat in an audience, talking into a microphone as others listen.

Care coordination: 24 June 2021

The topic for this meeting was priority three of the UK Rare Diseases Framework: care coordination for rare conditions. The session started with a presentation from Dr Holly Walton, University College London. The discussion following the presentation covered the role replacement of European Reference Networks (ERNs); the role of specialist nurses; the transition between paediatric and adult care; and the coordination between healthcare professionals when a specialist is absent.

Underpinning themes: 22 July 2021

This session started with discussions on the terms of reference for the Patient Empowerment Group. The group hopes to expand and improve the involvement of the rare disease youth voice and ensure a diverse range of memberships. 

An update was given on the UK Rare Disease Forum and short updates from Natalie Frankish and Emma Hughes on Wales and Scotland. Progress on the five underpinning themes of the UK Rare Disease Framework was discussed.

It then moved on to feedback given by Genetic Alliance UK to the Congenital Anomaly Register and Information Service (CARIS) on expanding to become an adult registry, and feedback to the NHS Medicines Repurposing Programme on draft documents.

Read more about the work done by PEG.

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