TY - JOUR
T1 - Analysis of comprehensive genomic profiling of solid tumors with a novel assay for broad analysis in clinical diagnostics
AU - Froyen, Guy
AU - Volders, Pieter-Jan
AU - Geerdens, Ellen
AU - Berden, Severine
AU - van der Meulen, Joni
AU - De Cock, Aaron
AU - Vermeire, Stefanie
AU - Van Huysse, Jacques
AU - de Barsy, Marie
AU - Beniuga, Gabriela
AU - de Leng, Wendy W. J.
AU - Jansen, Anne M. L.
AU - Demers, Imke
AU - Ozgur, Zeliha
AU - Dubbink, Hendrikus Jan
AU - Speel, Ernst-Jan M.
AU - van IJcken, Wilfred F. J.
AU - Maes, Brigitte
PY - 2025/1/1
Y1 - 2025/1/1
N2 - 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.
AB - 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.
KW - comprehensive genomic profiling (CGP)
KW - diagnostic assay validation
KW - next-generation sequencing (NGS)
KW - solid tumors
U2 - 10.1002/1878-0261.13812
DO - 10.1002/1878-0261.13812
M3 - Article
SN - 1574-7891
JO - Molecular oncology
JF - Molecular oncology
ER -