ArticleJournal of community genetics2018
Diagnosis of rare diseases under focus: impacts for Canadian patients.
Article in Journal of community genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed.
- From Lived Experiences to Systemic Change: Patient Perspectives on the Diagnostic Journey of Loeys-Dietz Syndrome.CJC open · 2026Article
- Mapping Dental Care for Children and Adolescents With Rare Diseases: A Brazilian Multicentre Study.Community dentistry and oral epidemiology · 2026Article
- Sources and consequences of self-doubt in patients with Ehlers-Danlos syndrome: a qualitative study in Europe and North America.BMJ open · 2025Article
- Rare disease, common struggles: quality of life, caregiver burden and financial wellbeing of family caregivers in Poland.Scientific reports · 2025Article
- Policy Challenges in Ultra-Rare Cancers: Ethical, Social, and Legal Implications of Melanoma Prevention and Diagnosis in Children, Adolescents, and Young Adults.Healthcare (Basel, Switzerland) · 2025Article
- The expanding diagnostic toolbox for rare genetic diseases.Nature reviews. Genetics · 2024Review
- Stigma associated with genetic testing for rare diseases-causes and recommendations.Frontiers in genetics · 2024Review
- Socio-economic costs of rare diseases and the risk of financial hardship: a cross-sectional study.The Lancet regional health. Western Pacific · 2023Article
- Psychosocial impact at the time of a rare disease diagnosis.PloS one · 2023Article
- Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery.American journal of human genetics · 2022Review
- Are we forgetting to carry out serum protein electrophoresis as part of diagnosis workup?BMC gastroenterology · 2022Article
- Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2022Article
- Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals.Orphanet journal of rare diseases · 2022Article
- Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America.Frontiers in genetics · 2022Review
- Toward the diagnosis of rare childhood genetic diseases: what do parents value most?European journal of human genetics : EJHG · 2021Article
- Genetic Testing in Natural History Studies: A Review of the Regulatory and Legal Landscape.Public health genomics · 2021Review
- The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- A scoping review and proposed workflow for multi-omic rare disease research.Orphanet journal of rare diseases · 2020Article
- Human germline genome editing is illegal in Canada, but could it be desirable for some members of the rare disease community?Journal of community genetics · 2020Review
- Determining How Far an Adult Rare Disease Patient Needs to Travel for a Definitive Diagnosis: A Cross-Sectional Examination of the 2018 National Rare Disease Survey in China.International journal of environmental research and public health · 2020Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
This paper presents an in-depth qualitative analysis of the impact of diagnosis on the lives of rare disease (RD) patients. While diagnosis may be described as a watershed step for RD patients, no extensive account of non-medical outcomes following a RD diagnosis exists within the literature. This study aims to fill this knowledge gap through an analysis of the impact of diagnosis on the lives of RD patients according to their personal experiences. Qualitative research was conducted in three provinces across Canada, with a total of 23 participants, both adult and parents of children with RD, diagnosed and not yet diagnosed. A thematic approach guided the analysis of the transcripts. The results reveal that the impacts of a RD diagnosis for both adults and paediatric patients are multifold, ranging from social to personal and medical impacts (including cases where etiological treatments for the diseases are non-existent). Furthermore, the results shed light on distinct factors that affect the scope of impacts of a diagnosis.
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Registered trials
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.