ArticleGenetics in medicine : official journal of the American College of Medical Genetics2024
Diagnostic delay in monogenic disease: A scoping review.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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The trial behind it
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Who cites it
14 citing papers in PubMed.
- Lived experiences of parents of children with genetic and neurodevelopmental disorders accessing genetic services in Rwanda: barriers and enablers.Journal of community genetics · 2026Article
- Decoding Genetic Disease Through the Skin: Lessons From the UDN.International journal of dermatology · 2026Article
- Deciding "what" to screen for and "when": The importance of natural history information.American journal of human genetics · 2026Review
- Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG.Biomolecules · 2026Review
- Sex-Based Disparities in Fabry Disease Cause Challenges in Newborn Screening.Public health genomics · 2026Article
- Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features.JIMD reports · 2026Article
- Sex-Specific Diagnostic Inequality in Fabry Disease: Lessons Learned from Analysis of Newborn Screening and Cascade Testing in Tennessee from 2017 to 2024.Public health genomics · 2026Article
- The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.American journal of ophthalmology · 2025Article
- A multi-omics-empowered framework for precision diagnosis and treatment of lysosomal diseases.Journal of pharmaceutical analysis · 2025Review
- 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
- Artificial intelligence in clinical genetics.European journal of human genetics : EJHG · 2025Review
- Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.American journal of medical genetics. Part A · 2025Article
- A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases.Orphanet journal of rare diseases · 2024Review
- Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.European journal of human genetics : EJHG · 2024Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
purposeDiagnostic delay in monogenic disease is reportedly common. We conducted a scoping review investigating variability in study design, results, and conclusions.
methodsWe searched the academic literature on January 17, 2023, for original peer reviewed journals and conference articles that quantified diagnostic delay in monogenic disease. We abstracted the reported diagnostic delay, relevant study design features, and definitions.
resultsOur search identified 259 articles quantifying diagnostic delay in 111 distinct monogenetic diseases. Median reported diagnostic delay for all studies collectively in monogenetic diseases was 5.0 years (IQR 2-10). There was major variation in the reported delay within individual monogenetic diseases. Shorter delay was associated with disorders of childhood metabolism, immunity, and development. The majority (67.6%) of articles that studied delay reported an improvement with calendar time. Study design and definitions of delay were highly heterogenous. Three gaps were identified: (1) no studies were conducted in the least developed countries, (2) delay has not been studied for the majority of known, or (3) most prevalent genetic diseases.
conclusionHeterogenous study design and definitions of diagnostic delay inhibit comparison across studies. Future efforts should focus on standardizing delay measurements, while expanding the research to low-income countries.
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