ArticleIrish journal of medical science2020
The role of primary care in management of rare diseases in Ireland.
Article in Irish journal of medical science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- Experiences and Information Needs of Families of Children With Organic Acid or Fatty Acid Metabolism Disorders in Japan.Journal of genetic counseling · 2026Article
- Time poverty of families of children with 22q11DS: a healthcare professional perspective.BMC pediatrics · 2026Article
- Uncertainties of healthcare professionals and informal caregivers in rare diseases: A systematic review.Heliyon · 2024Article
- Global health for rare diseases through primary care.The Lancet. Global health · 2024Article
- Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany - a mixed-methods study.Orphanet journal of rare diseases · 2024Article
- The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review.Orphanet journal of rare diseases · 2024Article
- Health care utilisation and education outcomes of children with rare diseases: a born in Bradford cohort study.European journal of pediatrics · 2023Article
- Article
- Barriers to and Facilitators of Providing Care for Adolescents Suffering from Rare Diseases: A Mixed Systematic Review.Pediatric reports · 2023Review
- The utilisation of primary health care system concepts positively impacts the assistance of patients with rare diseases despite limited knowledge and experience by health care professionals: A qualitative synopsis of the evidence including approximately 78 000 individuals.Journal of global health · 2023Review
- Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey.Genetics in medicine open · 2023Article
- Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain.International journal of environmental research and public health · 2022Article
- Designing rare disease care pathways in the Republic of Ireland: a co-operative model.Orphanet journal of rare diseases · 2022Article
- Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study.Orphanet journal of rare diseases · 2021Article
- Integrated Care for People Living With Rare Disease: A Scoping Review on Primary Care Models in Organization for Economic Cooperation and Development Countries.Journal of primary care & community healthArticle
Corrections and comments
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Authors and funding
18 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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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What OpenQuestion holds
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.