Analytic validation and clinical utilization of the comprehensive genomic profiling test, GEM ExTra®
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Tracey White1,*, Szabolcs Szelinger1,*, Janine LoBello1, Amy King1, Jessica Aldrich1, Nathan Garinger1, Matthew Halbert1, Ryan F. Richholt1, Stephen D. Mastrian1, Cody Babb1, Audrey A. Ozols1, Laurie J. Goodman1, Gargi D. Basu1 and Thomas Royce1
1 Ashion Analytics, LLC, Phoenix, Arizona 85004, USA
* These authors contributed equally to this work
|Thomas Royce,||email:||[email protected]|
Keywords: comprehensive genomic profiling; whole exome sequencing; RNA sequencing; precision medicine; pan-cancer
Received: March 06, 2021 Accepted: March 28, 2021 Published: April 13, 2021
We developed and analytically validated a comprehensive genomic profiling (CGP) assay, GEM ExTra, for patients with advanced solid tumors that uses Next Generation Sequencing (NGS) to characterize whole exomes employing a paired tumor-normal subtraction methodology. The assay detects single nucleotide variants (SNV), indels, focal copy number alterations (CNA), TERT promoter region, as well as tumor mutation burden (TMB) and microsatellite instability (MSI) status. Additionally, the assay incorporates whole transcriptome sequencing of the tumor sample that allows for the detection of gene fusions and select special transcripts, including AR-V7, EGFR vIII, EGFRvIV, and MET exon 14 skipping events. The assay has a mean target coverage of 180X for the normal (germline) and 400X for tumor DNA including enhanced probe design to facilitate the sequencing of difficult regions. Proprietary bioinformatics, paired with comprehensive clinical curation results in reporting that defines clinically actionable, FDA-approved, and clinical trial drug options for the management of the patient’s cancer. GEM ExTra demonstrated analytic specificity (PPV) of > 99.9% and analytic sensitivity of 98.8%. Application of GEM ExTra to 1,435 patient samples revealed clinically actionable alterations in 83.9% of reports, including 31 (2.5%) where therapeutic recommendations were based on RNA fusion findings only.
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