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• W3000053204 abstract "Abstract Background ‘Slaintecare’ aims to address complex patient care needs in an integrated fashion with an emphasis on patient-centred, patient-empowered community care.Currently there is a lack of knowledge of the impact of rare disease management in primary care and of the information tools required by general practitioners to deliver integrated care for rare disease patients. Aims To complete a pilot survey to estimate the general practice clinical workload attributable to selected rare diseases and assess the use of relevant information sources. Methods A retrospective cross-sectional survey was carried out of general practice consultations (2013–2017) for patients with 22 commonly recognised rare diseases. Results Around 31 general practitioners from 10 Irish practices completed information on 171 patients with rare diseases over 3707 consultations. General practice-specific coding systems were inadequate for rare disease patient identification. Over 139 (81.3%) patients were adult, and 32 (18.7%) were children. Management of care was hospital and not primary care based in 63%. Those eligible for state-reimbursed care had a significantly higher median number of consultations (23 consultations, IQR = 13–37, or 5.8 consultations/year) than those who paid privately (10 consultations, IQR = 4–19, or 2.5 consultations/year) ( p < 0.005).General practitioners had access to public information resources on rare diseases but few had knowledge of (35.5%), or had ever used (12.9%) Orphanet, the international rare disease information portal. Conclusions Both specific rare disease-specific coding and use of the relevant rare disease information sources are lacking in general practice in Ireland." @default.
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• W3000053204 date "2020-01-13" @default.
• W3000053204 modified "2023-10-18" @default.
• W3000053204 title "The role of primary care in management of rare diseases in Ireland" @default.
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• W3000053204 doi "https://doi.org/10.1007/s11845-019-02168-4" @default.
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