The role of primary care in management of rare diseases in Ireland

• Published in: Irish journal of medical science Vol. 189; no. 3; pp. 771 - 776
• Main Authors: Byrne, Niall, Turner, Jacqueline, Marron, Rita, Lambert, Deborah M., Murphy, Daniel N., O’Sullivan, Grace, Mason, Maureen, Broderick, Frank, Burke, Mary C., Casey, Sheila, Doyle, Marguerite, Gibney, David, Mason, Fergus, Molony, David, Ormond, Deirdre, O’ Sé, Colm, O’Shea, Conor, Treacy, Eileen P.
• Format: Journal Article
• Language: English
• Published: London Springer London 01.08.2020
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Cross-Sectional Studies; Family Medicine; Female; General Practice; Humans; Internal Medicine; Ireland; Male; Medicine; Medicine & Public Health; Middle Aged; Original; Original Article; Primary Health Care - standards; Rare Diseases - therapy; Retrospective Studies; Surveys and Questionnaires; Young Adult; Ireland; Patient care management; Rare diseases; Clinical coding; General practitioners; Integrated delivery of healthcare
• ISSN: 0021-1265; 1863-4362
• DOI: 10.1007/s11845-019-02168-4

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.