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Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
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Validation and Clinical Utility of a Pan-Cancer Circulating Tumor DNA Assay as a First-Approach Test.

Nisha Kanwar1, Michael B Campion1, Amber R Schneider1

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The Journal of Molecular Diagnostics : JMD
|September 27, 2025
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Circulating tumor DNA (ctDNA) assays show high feasibility and sensitivity for pan-cancer genomic profiling. These liquid biopsies offer faster, actionable results, supporting their use as a first-line test, especially when tissue is limited.

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Area of Science:

  • Oncology
  • Genomics
  • Molecular Diagnostics

Background:

  • The clinical utility of circulating tumor DNA (ctDNA) for initial pan-cancer genomic profiling remains uncertain.
  • Low ctDNA levels can compromise assay sensitivity, hindering clinical adoption.

Purpose of the Study:

  • To validate a 33-gene next-generation sequencing ctDNA panel.
  • To assess the feasibility, sensitivity, and actionability of ctDNA testing in real-world clinical settings for first-approach genomic profiling.

Main Methods:

  • Validated a 33-gene next-generation sequencing ctDNA panel.
  • Analyzed data from 123 patients undergoing initial ctDNA testing and 48 with matched tissue samples.
  • Evaluated ctDNA assay failure rates, reasons for liquid biopsy, variant detection rates, sensitivity compared to tissue, and turnaround time.

Main Results:

  • Achieved a 0% ctDNA assay failure rate, with insufficient tissue being the primary driver for liquid biopsy (69%).
  • Detected Tier I or II variants in 65% of patients, notably in 54.5% of cholangiocarcinomas.
  • ctDNA demonstrated 76% sensitivity for Tier I variants versus tissue and increased actionable variants by 14.3%, with results preceding tissue by 21 days on average.

Conclusions:

  • ctDNA assays exhibit high feasibility, sensitivity, and actionability, supporting their role as a potential first-line genomic test.
  • ctDNA testing is particularly valuable for advanced tumors with insufficient or unavailable tissue and for specific cancer types like cholangiocarcinoma.