ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
(Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Capturing Real-World Rare Disease Patient Journeys: Are Current Methodologies Sufficient for Informed Healthcare Decisions?Journal of evaluation in clinical practice · 2025Pooled it
- Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey.Journal of community genetics · 2026Article
- Is next generation sequencing for the diagnosis of rare diseases worth its cost? A user-based approach to valuation.The European journal of health economics : HEPAC : health economics in prevention and care · 2026Article
- Trigger points of palliative care assessment in inherited metabolic diseases.Orphanet journal of rare diseases · 2025Review
- Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature.Biomedicines · 2025Review
- Addressing psychosocial vulnerability in rare diseases: a call to action from a European expert consensus study.Orphanet journal of rare diseases · 2025Article
- Article
- Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis.Orphanet journal of rare diseases · 2025Article
- The cost of the diagnostic odyssey of patients with suspected rare diseases.Orphanet journal of rare diseases · 2025Article
- Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades.American journal of human genetics · 2025Article
- Experiences of participants with undiagnosed diseases and hereditary cancers during the initial phase of the Hong Kong genome project: a mixed-methods study.Human genomics · 2025Article
- Uncovering the hidden socioeconomic impact of juvenile idiopathic arthritis and paving the way for other rare childhood diseases: an international, cross-disciplinary, patient-centered approach (PAVE Consortium).Pediatric rheumatology online journal · 2024Article
- RDguru: An Intelligent Agent for Rare Diseases.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2024Article
- Are We Capturing the Socioeconomic Burden of Rare Genetic Disease? A Scoping Review of Economic Evaluations and Cost-of-Illness Studies.PharmacoEconomics · 2023Article
- Genomic newborn screening for rare diseases.Nature reviews. Genetics · 2023Review
- Psychosocial impact at the time of a rare disease diagnosis.PloS one · 2023Article
- GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy.Molecular therapy. Methods & clinical development · 2022Review
- Article
- DNA Methylation Episignatures in Neurodevelopmental Disorders Associated with Large Structural Copy Number Variants: Clinical Implications.International journal of molecular sciences · 2022Review
- Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients.Orphanet journal of rare diseases · 2022Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeWe provide a description of the diagnostic odyssey for a cohort of children seeking diagnosis of a rare genetic disorder in terms of the time from initial consultation to most recent visit or receipt of diagnosis, the number of tests per patient, and the types of tests received.
methodsRetrospective chart review of 299 children seen at the Alberta Children's Hospital (ACH) Genetics Clinic (GC) for whom the result of at least one single-gene test, gene panel, or chromosome microarray analysis (CMA) was recorded.
resultsOf 299 patients, 90 (30%) received a diagnosis in the period of the review. Patients had an average of 5.4 tests each; 236 (79%) patients received CMA; 172 (58%) patients received single-gene tests and 34 (11%) received gene panels; 167 (56%) underwent imaging/electrical activity studies. The mean observation period was 898 days (95% confidence interval [CI] 791, 1004). Among patients with visits recorded prior to visiting ACH GC, 43% of the total observation time occurred prior to the GC.
conclusionAs genomic technologies expand, the nature of the diagnostic odyssey will change. This study has outlined the current standard of care in the ACH GC, providing a baseline against which future changes can be assessed.
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