Improving rare disease identification and coordinating health and social care priorities

Introduction: Rare diseases, present in <1/2,000 persons with a genetic cause, affect ~5% of the population in Northern Ireland (NI). Following public and stakeholder consultations, a NI Rare Disease Implementation Plan was published stressing 51 key commitments to improve medical and societal challenges specifically associated with rare diseases. Materials and Methods: Mixed methods were employed to seek views from a range of stakeholders to recognise good practice, identify where urgent change is required, and prioritise short/medium/longer term goals for rare diseases in NI. The establishment of our NI Genomic Medicine Centre (2015) and applying multi-omics approaches to improve the speed and accuracy of diagnosis for individuals with rare diseases has revealed important issues. Results: Differences were noted depending on the method of data collection. Common themes consistently included a frequently tortuous path to diagnosis, difficulty finding details for health and social care contacts, and challenges accessing relevant information in suitable formats. Conclusions: Current health and social care systems in NI are not designed to optimise care for rare diseases. The development of our digital integrated care record (http://www.hscboard.hscni.net/encompass/) is offering unprecedented opportunities to integrate effective and sustainable strategies to improve rare disease identification, optimise care and service provision, provide relevant information to individuals living and working with rare diseases, and establish effective multi-disciplinary communication networks. ALC & KK are supported by a PhD studentship from the Department for the Economy. This work was conducted in collaboration with the NI Department of Health, Public Health Agency, and NI Rare Disease Partnership.