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Updated: Jun 15, 2025
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Analysis of comprehensive genomic profiling of solid tumors with a novel assay for broad analysis in clinical
Guy Froyen1,2,3, Pieter-Jan Volders1,3,4, Ellen Geerdens1
1Laboratory for Molecular Diagnostics, Department of Clinical Biology, Jessa Hospital, Hasselt, Belgium.
Abstract:
Somatic multigene analysis by next-generation sequencing (NGS) is routinely integrated in medical oncology for clinical decision-making. However, with the fast-growing number of recommended and required genes as well as pan-cancer biomarkers, small panels have become vastly insufficient. Comprehensive genomic profiling (CGP) is, thus, required to screen for clinically relevant markers. In this multicentric study, we report on an extensive analysis across seven centers comparing the results of the novel OncoDEEP CGP assay with the diagnostically validated TruSight Oncology 500 (TSO500) kit on 250 samples. Overall concordance was 90% for clinically relevant gene variants and >96% for more complex biomarkers. Agreement for fusion detection was 94% for the 11 overlapping clinically actionable driver genes. The higher coverage uniformity of OncoDEEP compared to TSO500 allows users to pool more samples per sequencing run. Tertiary data analysis, including reporting, is integrated in the OncoDEEP solution, whereas this is an add-on for TSO500. Finally, we showed that, analytically, the OncoDEEP panel performs well, thereby advocating its use for CGP of solid tumors in diagnostic laboratories, providing an all-in-one solution for optimal patient management.
Insights
Comprehensive genomic profiling (CGP) using the OncoDEEP assay shows high concordance with TSO500 for detecting clinically relevant gene variants and biomarkers in solid tumors. OncoDEEP offers an integrated, efficient solution for cancer diagnostics.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Next-generation sequencing (NGS) is crucial for medical oncology, but small gene panels are insufficient for comprehensive genomic profiling (CGP).
- The increasing number of recommended genes and pan-cancer biomarkers necessitates broader screening methods.
Purpose of the Study:
- To compare the novel OncoDEEP CGP assay against the validated TruSight Oncology 500 (TSO500) kit.
- To evaluate the performance of OncoDEEP for comprehensive genomic profiling in solid tumors across multiple centers.
Main Methods:
- A multicentric study involving seven centers analyzed 250 samples.
- Comparison of OncoDEEP CGP assay results with the TSO500 kit.
- Analysis included gene variants, complex biomarkers, and fusion detection in 11 clinically actionable driver genes.
Main Results:
- Overall concordance reached 90% for clinically relevant gene variants and >96% for complex biomarkers.
- Agreement for fusion detection was 94% for overlapping genes.
- OncoDEEP demonstrated higher coverage uniformity, enabling sample pooling, and includes integrated tertiary data analysis.
Conclusions:
- The OncoDEEP panel performs well analytically for CGP of solid tumors.
- OncoDEEP provides an all-in-one solution for diagnostic laboratories, supporting optimal patient management.
- Its performance advocates for its adoption in routine diagnostic settings.
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