ArticleInternational journal of environmental research and public health2022
Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay.
Article in International journal of environmental research and public health, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Diagnostic delay of sarcoidosis: an integrated systematic review.Orphanet journal of rare diseases · 2024Pooled it
- The Patient Experience of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Post-Diagnosis: Results from an International Survey.Neurology and therapy · 2026Article
- Repercussions of Diagnostic Delay in Rare Diseases.Journal of genetic counseling · 2026Review
- Initial-Visit Specialty Triage in Rare Diseases Using Large Language Models: Retrospective Benchmarking Study.Journal of medical Internet research · 2026Article
- Deciding "what" to screen for and "when": The importance of natural history information.American journal of human genetics · 2026Review
- Artificial Intelligence in Rare Diseases: Workflow-Integrated Precision Kidney Care.Clinics and practice · 2026Review
- Article
- 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
- Bridging data gaps of rare conditions in ICU: a multi-disease adaptation approach for clinical prediction.NPJ digital medicine · 2026Article
- Article
- Referral route: a determinant of inequity for children with undiagnosed genetic diseases?Frontiers in genetics · 2026Article
- "Nobody listened to us for years": Parents' experiences of provider communication in the diagnostic odyssey.Molecular genetics and metabolism · 2025Article
- Factors associated with diagnostic delays in Peruvian patients with rare diseases.Intractable & rare diseases research · 2025Article
- The logic of medical reasoning: toward an integrated inductive, deductive, and abductive approach to clinical practices.Philosophy, ethics, and humanities in medicine : PEHM · 2025Article
- Case Report: Neuropsychological Profile of a Patient With Intravascular Large B-Cell Lymphoma Following Infection and Vaccination.Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists · 2025Article
- Diagnostic Reasoning in Surgical Pathology.Journal of evaluation in clinical practice · 2025Article
- A coordinated multidisciplinary model of care is needed for child and family centered care in pediatric genetic cancer risk services: a scoping review.Familial cancer · 2025Article
- Caregivers' experiences and challenges of the diagnostic odyssey in Dravet syndrome.Orphanet journal of rare diseases · 2025Article
- Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway.BMJ open · 2025Observational
- Diagnostic Accuracy of a Custom Large Language Model on Rare Pediatric Disease Case Reports.American journal of medical genetics. Part A · 2025Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Many people living with rare disease (RD) report a difficult diagnostic process from the symptom onset until they obtain the definitive diagnosis. The aim of this study was thus to ascertain the diagnostic process in RDs, and explore the determinants related with having to wait for more than one year in this process (defined as "diagnostic delay"). We conducted a case-control study, using a purpose-designed form from the Spanish Rare Diseases Patient Registry for data-collection purposes. A descriptive analysis was performed and multivariate backward logistic regression models fitted. Based on data on 1216 patients living with RDs, we identified a series of determinants associated with experiencing diagnostic delay. These included: having to travel to see a specialist other than that usually consulted in the patient's home province (OR 2.1; 95%CI 1.6-2.9); visiting more than 10 specialists (OR 2.6; 95%CI 1.7-4.0); being diagnosed in a region other than that of the patient's residence at the date of symptom onset (OR 2.3; 95%CI 1.5-3.6); suffering from a RD of the nervous system (OR 1.4; 95%CI 1.0-1.8). In terms of time taken to see a specialist, waiting more than 6 months to be referred from the first medical visit was the period of time which most contributed to diagnostic delay (PAR 30.2%). In conclusion, this is the first paper to use a collaborative study based on a nationwide registry to address the diagnostic process of patients living with RDs. While the evidence shows that the diagnostic process experienced by these persons is complex, more studies are needed to determine the implications that this has for their lives and those of their families at a social, educational, occupational, psychological, and financial level.
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