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Background  Rare diseases are often complex, life-long conditions with a genetic basis. With advances in phenotyping and genomic medicine, there are now &gt;8000 rare diseases reported. A rare disease is defined by an incidence of &lt;5 cases per 10 000 population; although they are individually rare, collectively they are much more common with 1 in 17 persons affected in their lifetime. The Northern Ireland Rare Disease Implementation Plan (2015) highlighted the need for better coordination of care, the empowerment of patients, better diagnostics, and earlier disease interventions. The report also acknowledged the difficult role that GPs have, especially in the diagnosis of rare diseases. GPs play an important role in healthcare delivery for people living with a rare disease and their families. However, many GPs report challenge identifying and managing individuals with a rare disease appropriately.    Aim  To explore GP’s perceptions and experiences of rare diseases.    Method  A literature review of published research related to GPs and rare disease will be conducted. Databases searched include Medline, Embase, Web of Science, Scopus and Google Scholar. Additionally, an online survey will be completed by GPs November 2018–spring 2019, with follow-up qualitative interviews providing further in-depth information.    Results  Initial searches have revealed 27 relevant publications. A summary of the findings from the literature review will be presented, alongside findings from our GP survey.    Conclusion  Much can be learned from the experiences of current GPs to identify rare disease information needs and resources that enable effective GP-patient partnerships.

Perceptions and experiences of rare diseases among the GP population in Northern Ireland