Policy briefing document: Rare diseases and specialised commissioning in England - genomics, research and access to medicine

This publication reflects proceedings at the Westminster Health Forum policy conference: Rare diseases and specialised commissioning in England - genomics, research and access to medicine held on 9th January 2020. “While we acknowledge this Westminster Health Forum policy conference was focused on rare diseases and specialised commissioning in England for genomics, research and access to medicine, what is commissioned in England is often implemented in Northern Ireland. We have an active research participant engagement group and strong voices from rare disease patients, families, and carers across Northern Ireland; with more than 1,000 respondents to individual consultations we are committed to empowering individuals living and working with rare diseases. Top-ranked short-term priorities requested by our NI rare disease community include (1) improved diagnosis; (2) a rare disease registry; (3) better accurate, reliable information for health and social care support ideally provided through a central web portal / online information hub supported by a rare disease coordinator(s); (4) improved coordination and transparent models of care that includes provision of reliable, disease-specific information, recognises contributions from expert patients / families, and is sufficiently flexible to include accessing multidisciplinary care from experts who may be geographically distant; (5) facilitated access to research; and (6) training and education of health and social care professionals for generic rare disease facts with links to experts in specific rare diseases. Recent quantitative and qualitative research focused on carers of individuals with a rare disease dramatically highlights that 100% of participants described caring having a negative impact on their mental health; a good care package and a single resource signposting carers to established pathways, useful resources and personal support would help relieve many hours (and often weeks!) of frustration. We need to maximise opportunities across the UK by working collaboratively and constructively with a multidisciplinary approach to build on recent developments and truly drive forward improvements for rare diseases”. Dr Amy Jayne McKnight (Rare Disease Research Lead, Queen’s University Belfast) & Samuel Robinson (Rare Disease Patient, Carer & Director of the Northern Ireland Rare Disease Partnership)