Next-Generation Sequencing Concordance Analysis of Comprehensive Solid Tumor Profiling between a Centralized Specialty Laboratory and the Decentralized Personal Genome Diagnostics elio Tissue Complete Kitted Solution.

Journal Article (Journal Article)

Genomic tumor profiling by next-generation sequencing (NGS) allows for large-scale tumor testing to inform targeted cancer therapies and immunotherapies, and to identify patients for clinical trials. These tests are often underutilized in patients with late-stage solid tumors and are typically performed in centralized specialty laboratories, thereby limiting access to these complex tests. Personal Genome Diagnostics Inc., elio tissue complete NGS solution is a comprehensive DNA-to-report kitted assay and bioinformatics solution. Comparison of 147 unique specimens from >20 tumor types was performed using the elio tissue complete solution and Foundation Medicine's FoundationOne test, which is of similar size and gene content. The analytical performance of all genomic variant types was evaluated. In general, the overall mutational profile is highly concordant between the two assays, with agreement in sequence variants reported between panels demonstrating >95% positive percentage agreement for single-nucleotide variants and insertions/deletions in clinically actionable genes. Both copy number alterations and gene translocations showed 80% to 83% positive percentage agreement, whereas tumor mutation burden and microsatellite status showed a high level of concordance across a range of mutation loads and tumor types. The Personal Genome Diagnostics Inc., elio tissue complete assay is comparable to the FoundationOne test and will allow more laboratories to offer a diagnostic NGS assay in house, which will ultimately reduce time to result and increase the number of patients receiving molecular genomic profiling and personalized treatment.

Full Text

Duke Authors

Cited Authors

  • Deak, KL; Jackson, JB; Valkenburg, KC; Keefer, LA; Robinson Gerding, KM; Angiuoli, SV; Datto, MB; McCall, SJ

Published Date

  • October 2021

Published In

Volume / Issue

  • 23 / 10

Start / End Page

  • 1324 - 1333

PubMed ID

  • 34314880

Pubmed Central ID

  • PMC8567158

Electronic International Standard Serial Number (EISSN)

  • 1943-7811

Digital Object Identifier (DOI)

  • 10.1016/j.jmoldx.2021.07.004


  • eng

Conference Location

  • United States