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Updated: Jul 5, 2025
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Diagnostic delay in monogenic disease: A scoping review.
Rory J Tinker1, Miles Fisher2, Alex F Gimeno3
1Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN.
Summary
Diagnostic delay for monogenic diseases averages 5 years, with significant variation. Research is needed to standardize measurements and include low-income countries.
Area of Science:
- Genetics
- Medical Research
Background:
- Diagnostic delay is a significant challenge in managing monogenic diseases.
- Variability in study design and conclusions complicates understanding of diagnostic delay.
Purpose of the Study:
- To conduct a scoping review of studies quantifying diagnostic delay in monogenic diseases.
- To investigate variability in study design, results, and conclusions regarding diagnostic delay.
Main Methods:
- A comprehensive literature search was performed on January 17, 2023.
- Included original peer-reviewed articles and conference papers that quantified diagnostic delay in monogenic diseases.
- Abstracted data on diagnostic delay, study design features, and definitions used.
Main Results:
- 259 articles quantifying diagnostic delay in 111 monogenic diseases were identified.
- The median diagnostic delay across all studies was 5.0 years (IQR 2-10).
- Significant variation in delay was observed within diseases; shorter delays were linked to childhood metabolic, immune, and developmental disorders. Most studies (67.6%) reported improvements in delay over time.
Conclusions:
- Heterogeneity in study design and delay definitions hinders cross-study comparisons.
- Standardizing delay measurements is crucial for future research.
- Research should expand to low-income countries and cover a broader range of genetic diseases.
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