Rare Disease Priorities for Progress Within Northern Ireland: Workshop Report 2020

Amy Jayne McKnight, Grace Henry

Research output: Other contribution

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Abstract

Rare diseases are a major public health concern, cumulatively affecting ~6% of the population. In 2013, the UK strategy for rare disease was published1 followed by the Northern Ireland rare disease implementation plan (NIRDIP) in 20152. In response to priority actions identified within the Northern Ireland Rare Disease Implementation Plan, three complementary (confidential) commissioned reports were submitted to the Northern Ireland Rare Disease Implementation Group (January 2020) describing recommendations for action. 1) Rare disease communications and information review3. Communications and Information Review: NI Report for Rare Diseases 2) Rare disease education and training review4. A rapid scoping review of rare disease education needs for NI 3) Research towards building a rare disease registry5. Perspectives on a NI Rare Disease Registry A focused, knowledge exchange workshop was held with multidisciplinary stakeholders to help prioritise existing recommendations across all three documents and generate a report to inform policy and practice for future rare disease progress. A NI rare disease implementation / action plan is being discussed for beyond 2020, which may be informed by the outcomes of this workshop. Initially, individual recommendations were consolidated to minimise duplication between each report. It was accepted that the consistently top-ranked recommendations remain the top 3 priorities for rare disease progress in NI: (1) to develop a national registration service, (2) to develop a dedicated online information hub, and (3) to develop a role to appoint a dedicated information coordinator. Six recommendations already have work underway, so workshop participants ranked the remaining recommendations as priorities for action within the short, medium and longer term prior to workshop discussions. This provided a framework for initial discussions during the workshop. Following considerable discussion as to the best way to prioritise recommendations, workshop participants ranked 34 recommendations by focused themes with a focus on ‘registry’, ‘information and communication’, ‘training and education’, as well as a cross-cutting focus. Prioritisation included ranking on short-, medium- and longer-term goals. However, it was proposed that there may be a better approach to generate progress for our rare disease community. The final approach taken by workshop participants was to consolidate recommendations under the proposed NIRADCAR (Northern Ireland RAre Diseases & Congenital Abnormalities Registry) and information hub within a Rare Disease Centre. Streamlined priorities with suggested deliverables have been suggested to support rare disease progress within Northern Ireland.
Original languageEnglish
TypePriorities for rare disease progress
Media of outputReport submitted to government advisory group: Northern Ireland Rare Disease Framework Implementation Group
Number of pages70
DOIs
Publication statusPublished - 28 Jul 2020

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