ArticleOrphanet journal of rare diseases2016
Survey of healthcare experiences of Australian adults living with rare diseases.
Article in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 3 of them syntheses that pooled it.
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Who cites it
104 citing papers in PubMed, 3 syntheses or guidelines pooled it, 227 citations in OpenAlex.
- The renewed Development Model for Integrated Care: a systematic review and model update.BMC health services research · 2025Pooled it
- Children with a rare congenital genetic disorder: a systematic review of parent experiences.Orphanet journal of rare diseases · 2022Pooled it
- Living with a rare disorder: a systematic review of the qualitative literature.Molecular genetics & genomic medicine · 2017Pooled it
- Experiences and Information Needs of Families of Children With Organic Acid or Fatty Acid Metabolism Disorders in Japan.Journal of genetic counseling · 2026Article
- Patient- and Caregiver-Reported Experiences of Rare Diseases in Türkiye: A Patient-Organization-Recruited Online Survey.Journal of clinical medicine · 2026Article
- Patient and Family Perspectives on Generative AI Tools in Rare Diseases: Exploratory Mixed Methods Online Survey.Journal of participatory medicine · 2026Article
- Health and social challenges faced by rare disease patients in Hong Kong: a cross-sectional study.Orphanet journal of rare diseases · 2026Article
- Cell type-specific contextualisation of the human phenome: towards the systematic treatment of all rare diseases.Genome medicine · 2026Article
- The estimated burden of rare diseases in South Africa using Orphanet: an epidemiological analysis.Orphanet journal of rare diseases · 2026Article
- Large-language-models for pediatric diagnosis: Performance evaluation using real-world clinical notes from common and rare cases.Pediatric investigation · 2026Article
- Beyond accuracy metrics: Toward responsible integration of large language models in pediatric diagnostic reasoning.Pediatric investigation · 2026Article
- 'If You Don't Fight for Yourself, No One Else Will': An In-Depth Interpretative Phenomenological Analysis of Rare Disorder Care Advocacy in Aotearoa New Zealand.Health expectations : an international journal of public participation in health care and health policy · 2026Article
- Exploring the Intersection of Rare Diseases and Mental Health Within the Diagnostic Odyssey: A Narrative Review and Thematic Synthesis.Nursing open · 2026Review
- Assessing healthcare experiences and barriers to care among individuals with ectodermal dysplasia.Orphanet journal of rare diseases · 2026Article
- Health care, social, educational, and employment needs of individuals affected by rare diseases and their families in Catalonia, Spain.Orphanet journal of rare diseases · 2026Article
- From the rare to the essential: analyzing the needs of physicians and families managing rare diseases.BMC health services research · 2026Article
- PAtient-Centric epilepsy clinical trIal model For Improved health outcomes using Cannabidiol (PACIFIC study)-a methodology for developing patient-centred clinical trials in rare epilepsy syndromes.BMC medical research methodology · 2026Article
- Comparing disease burden of rare diseases with common medical conditions in china: evidence from a national online health survey in 2022.Archives of public health = Archives belges de sante publique · 2026Article
- [The role of disease-specific registries in the field of rare diseases: opportunities, benefits and pitfalls].Innere Medizin (Heidelberg, Germany) · 2026Review
- Impact of data sources and ascertainment methods on reporting paediatric genetic condition prevalence: A scoping review.Health information management : journal of the Health Information Management Association of Australia · 2026Article
44 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFew studies have examined whether the healthcare needs of people living with rare diseases are being met. This study explores the experiences of Australian adults living with rare diseases in relation to diagnosis, information provision at the time of diagnosis, use of health and support services and involvement in research on their condition.
methodsThe survey respondents are self-selected from the population of Australian residents aged 18 years and over who are living with a rare disease. An online survey was implemented between July-August 2014. Purposive snowballing sampling was used. The results are reported as percentages with significant differences between sub-groups assessed using chi-squared analyses.
resultsEight hundred ten responses were obtained from adults living with a rare disease. 92.1% had a confirmed diagnosis, of which 30.0% waited five or more years for a diagnosis, 66.2% had seen three or more doctors to get a diagnosis and 45.9% had received at least one incorrect diagnosis. Almost three quarters (72.1%) received no or not enough information at the time of diagnosis. In the 12 months prior to the survey, over 80% of respondents had used the services of a general practitioner and a medical specialist while around a third had been inpatients at a hospital or had visited an emergency department. Only 15.4% of respondents had ever used paediatric services, 52.8% of these had experienced problems in the transition from paediatric to adult services. Only 20.3% knew of a patient registry for their condition and 24.8% were informed of clinical trials.
conclusionsThese findings suggest that not all healthcare needs of people living with rare diseases are being met. Structural changes to Australian healthcare systems may be required to improve the integration and coordination of diagnosis and care. Health professionals may need greater awareness of rare diseases to improve the diagnostic process and support to meet the information requirements of people newly diagnosed with rare diseases. Health service use is likely higher than for the general population and further epidemiological studies are needed on the impact of rare diseases on the healthcare system.
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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.