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Home / Research / Publications / Broader gene representation by whole-exome sequencing improves accuracy of tumor mutational burden assessment for selection of pembrolizumab immunotherapy

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Broader gene representation by whole-exome sequencing improves accuracy of tumor mutational burden assessment for selection of pembrolizumab immunotherapy

Key Findings:

  • The analysis compared WES-measured TMB with commercially available targeted panel estimates of TMB and found discordance in 10-15% of cases, with error rates correlating to panel size. 
  • In discordant cases, WES TMB more accurately predicted overall survival in pembrolizumab-treated patients than panel-based estimates.
  • In a subset of ‘TMB reliant’ patients (n = 3,981), for example, patients with tumor types that lack disease-specific immune checkpoint inhibitor indications, the median overall survival in discordant cases was about five months longer for WES TMB-High and panel TMB-Low compared to WES TMB-Low and panel TMB-High cases treated with pembrolizumab.
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