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

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.

journal_name

Ir J Med Sci

authors

Byrne N,Turner J,Marron R,Lambert DM,Murphy DN,O'Sullivan G,Mason M,Broderick F,Burke MC,Casey S,Doyle M,Gibney D,Mason F,Molony D,Ormond D,O' Sé C,O'Shea C,Treacy EP

doi

10.1007/s11845-019-02168-4

subject

Has Abstract

pub_date

2020-08-01 00:00:00

pages

771-776

issue

3

eissn

0021-1265

issn

1863-4362

pii

10.1007/s11845-019-02168-4

journal_volume

189

pub_type

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