Title: Comparison between whole exome sequencing and the FoundationOne® panel for the quantification of the tumour mutation burden of solid tumours: a systematic review and meta-analysis

Authors: Catherine Wellan; Hillary Rayo; Shashi Mehta

Addresses: Clinical Laboratory and Medical Imaging Sciences, Rutgers School of Health Professions, 65 Bergen Street, Newark, NJ 07107, USA ' Clinical Laboratory and Medical Imaging Sciences, Rutgers School of Health Professions, 65 Bergen Street, Newark, NJ 07107, USA ' Clinical Laboratory and Medical Imaging Sciences, Rutgers School of Health Professions, 65 Bergen Street, Newark, NJ 07107, USA

Abstract: This systematic review and meta-analysis examines the question of how effective the FoundationOne® panel is when compared to whole exome sequencing for accurately quantifying tumour mutation burden in solid tumours. Method comparison studies that evaluated tumour mutation burden in solid tumours as determined by whole exome sequencing and the FoundationOne® targeted panel were included in this systematic review. The Cochrane and PubMed databases were searched between 27 January 2020 and 4 March 2020. Twelve method comparison studies were included in this analysis, with a total of 29,185 samples. Correlation coefficients demonstrated significant results [r = 0.982, 95% CI (0.984-0.985), p < 0.001]. However, heterogeneity was considerably high (I² = 99.14%). Subgroup analyses did not explain this heterogeneity. The high heterogeneity among these studies calls into question their conclusions. Since the correlation coefficient is an inefficient metric to determine the comparison between these two methods, examining bias may be a better option.

Keywords: tumour mutation burden; TMB; whole exome sequencing; WES; FoundationOne; targeted panels; next-generation sequencing; NGS; immune checkpoint blockade therapies; immune checkpoint blockade; ICB; correlation; solid tumours; method comparison studies.

DOI: 10.1504/IJMEI.2023.132567

International Journal of Medical Engineering and Informatics, 2023 Vol.15 No.4, pp.371 - 388

Received: 07 Aug 2020
Accepted: 12 Jun 2021
Published online: 30 Jul 2023 *

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