Concordance Study Among 26 NGs Laboratories Provides Insights on Cancer Research

A new study has been conducted to examine the concordance among 26 next-generation sequencing (NGS) laboratories participating in the National Cancer Institute's (NCI) Molecular Analysis for Therapy Choice (NCI-MATCH) clinical trial. The study aimed to compare variant detection and reporting between a wide range of testing platforms. Funded by the NIH National Cancer Institute (NCI) and other organizations, this research has provided valuable insights into the accuracy and reliability of NGS tumor profiling tests.

Key Takeaways:

  • The study analyzed 28 NGS assays from 26 laboratories, including 11 commercial and 14 academic designated laboratories, in addition to the NCI-MATCH central laboratory.
  • The researchers sequenced DNA from eight cell lines and two clinical samples, performing pairwise comparisons in variant detection and reporting between each designated laboratory and the central laboratory.
  • The study observed high concordance in variant detection between the central laboratory and designated laboratories for single-nucleotide variants and insertions and deletions (average positive agreement 95.4% for all pairwise comparisons).
  • However, lower concordance was observed for variant reporting after analysis pipeline filtering, with notable discrepancies between laboratories using different target enrichment methods.
  • The research concluded that discrepancies in variant interpretation contributed significantly to reporting discrepancies.
  • This study indicates that different NGS tumor profiling tests in widespread clinical use achieve high concordance between assays in variant detection.

Statistics:

  • 28 NGS assays from 26 laboratories were used for this study.
  • The researchers sequenced DNA from 8 cell lines and 2 clinical samples.
  • Pairwise comparisons in variant detection and reporting were performed for 11 commercial and 14 academic designated laboratories, in addition to the NCI-MATCH central laboratory.
  • The study observed an average positive agreement of 95.4% for single-nucleotide variants and insertions and deletions between the central laboratory and designated laboratories.
  • 84.2% and 82% agreement was observed between the central laboratory and assays using amplification as the target enrichment method, except for two assays with an average positive agreement of 76.9% and 71.4%, respectively.

Sources:

  • A Concordance Study Among 26 Ngs Laboratories Participating In the Nci Molecular Analysis for Therapy Choice Clinical Trial. Clinical Cancer Research, 2025;31(16):3512-3525.
  • Frederick National Laboratory for Cancer Research.
  • NIH National Cancer Institute (NCI).
  • NIH National Cancer Institute (NCI).
  • NCI's Cancer Moonshot Biobank.
  • Cancer Diagnosis Program at the NCI Division of Cancer Treatment at the NIH.
  • S.J. Hsiao (Columbia University).
  • American Association for Cancer Research.
  • Clinical Cancer Research.
  • www.aacr.com.
  • clincancerres.aacrjournals.org/
  • Chris Karlovich, Frederick National Laboratory for Cancer Research.