• Niall Byrne, Jacqueline Turner, Rita Marron, Deborah M Lambert, Daniel N Murphy, Grace O'Sullivan, Maureen Mason, Frank Broderick, Mary C Burke, Sheila Casey, Marguerite Doyle, David Gibney, Fergus Mason, David Molony, Deirdre Ormond, Colm O' Sé, Conor O'Shea, and Eileen P Treacy.
• National Rare Disease Office, Eccles St, Dublin, D07 R2WY, Ireland.
• Ir J Med Sci. 2020 Aug 1; 189 (3): 771-776.

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.AimsTo complete a pilot survey to estimate the general practice clinical workload attributable to selected rare diseases and assess the use of relevant information sources.MethodsA retrospective cross-sectional survey was carried out of general practice consultations (2013-2017) for patients with 22 commonly recognised rare diseases.ResultsAround 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.ConclusionsBoth specific rare disease-specific coding and use of the relevant rare disease information sources are lacking in general practice in Ireland.

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