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Updated: Jun 13, 2026
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Evaluation of Colorectal Cancer Risk and Prevalence by Stool DNA Integrity Detection
Published on: June 8, 2020
Diagnostic Accuracy of Blood-Based cfDNA/ctDNA Tests for Colorectal Cancer-A Systematic Review and Meta-Analysis
Jerry Henry Rose1, Shivani Mattikalli1, Aarav Bansal2
1Department of Internal Medicine, University of Maryland Medical System, Baltimore, MD 21201, USA.
Cancers
|June 12, 2026
Summary
Blood-based cancer screening using cell-free DNA (cfDNA) and circulating tumor DNA (ctDNA) shows high accuracy for colorectal cancer (CRC) detection. These non-invasive tests offer a promising alternative to stool-based screening, potentially increasing patient participation.
Area of Science:
- Oncology
- Molecular Diagnostics
- Public Health Screening
Background:
- Non-invasive blood tests for colorectal cancer (CRC) screening, utilizing circulating tumor DNA (ctDNA) and cell-free DNA (cfDNA), are emerging but their real-world performance is unclear.
- Existing studies on ctDNA/cfDNA assays as alternatives to stool-based tests show considerable variability in methodology, populations, and study design.
- A systematic review and meta-analysis is needed to quantify the diagnostic yield of contemporary cfDNA/ctDNA assays for CRC detection.
Purpose of the Study:
- To systematically review and meta-analyze diagnostic accuracy studies of cfDNA/ctDNA assays for colorectal cancer detection.
- To quantify the pooled sensitivity and specificity of these blood-based assays.
- To evaluate diagnostic performance across different cancer stages and for advanced adenomas.
Main Methods:
- Systematic search of PubMed and Cochrane Library for diagnostic accuracy studies published up to December 2025.
- Inclusion of studies reporting sensitivity and specificity for cfDNA/ctDNA assays in CRC detection.
- Calculation of pooled proportions and 95% confidence intervals using a hierarchical bivariate random-effects model, with subgroup analyses by cancer stage and advanced adenoma.
Main Results:
- Fifty-eight studies involving 63,309 subjects were included in the meta-analysis.
- Pooled sensitivity for CRC detection was 82.9% (95% CI: 79.9-85.5%) and pooled specificity was 90.7% (95% CI: 89.2-92.0%), with an AUC of 0.937.
- Sensitivity for advanced adenoma was suboptimal at 46% (CI: 32-59%), but detection sensitivity increased with CRC stage (70% for Stage I to 90% for Stage IV).
Conclusions:
- Next-generation cfDNA/ctDNA assays demonstrate promising performance for CRC screening, comparable to established non-invasive methods.
- These assays are scalable, patient-friendly, and may significantly improve screening uptake by addressing barriers associated with stool-based tests.
- Integration into population-level screening programs could enhance CRC detection rates and patient outcomes.
