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Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
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Lessons From a Systematic Literature Search on Diagnostic DNA Methylation Biomarkers for Colorectal Cancer: How to
Zheng Feng1, Cary J G Oberije1,2, Alouisa J P van de Wetering1,3
1Department of Pathology, GROW - School for Oncology and Reproduction, Maastricht University Medical Center, Maastricht, the Netherlands.
Clinical and Translational Gastroenterology
|May 18, 2022
Summary
Developing DNA methylation biomarkers for colorectal cancer (CRC) diagnosis faces significant hurdles. Limited clinical translation and validation hinder progress, necessitating better study design and reporting to reduce research waste and improve diagnostic accuracy.
Area of Science:
- Biomarker Discovery
- Molecular Diagnostics
- Colorectal Cancer Research
Background:
- Colorectal cancer (CRC) screening aims to improve survival and reduce incidence.
- DNA methylation biomarkers show promise for improving CRC screening, but clinical translation remains limited.
- Existing screening methods like colonoscopy and fecal immunochemical tests have limitations.
Purpose of the Study:
- To identify technical and methodological challenges in developing diagnostic DNA methylation biomarkers for CRC.
- To provide recommendations for improving the clinical value and reducing research waste in biomarker research.
- To present current evidence on diagnostic CRC DNA methylation biomarkers.
Main Methods:
- Systematic literature search of diagnostic DNA methylation marker studies for CRC.
- Searched PubMed, EMBASE, Cochrane Library, and Google Scholar for studies published before November 2020.
- Performed extended data extraction for bodily fluid studies and assessed reporting quality using STARD criteria.
Main Results:
- Numerous issues hinder DNA methylation biomarker development for CRC, including methodological heterogeneity and lack of validation.
- Clinical translation is severely limited: only 0.7% of markers studied in bodily fluids became clinical tests.
- Independent validation rates were low for both tissue (22%) and bodily fluid (59%) markers.
Conclusions:
- Key requirements for clinically relevant diagnostic CRC DNA methylation markers are frequently unmet.
- Consideration of clinical needs, intended use, and independent validation is crucial before study design to minimize research waste.
- Improved reporting quality is essential to facilitate meta-analysis, enhance evidence levels, and enable clinical translation.
