Poster Presentation Clinical Oncology Society of Australia Annual Scientific Meeting 2019

Development and analytical validation of a 523-gene assay for cell-free DNA  (#156)

R Harrington 1 , B Das 1 , T Jiang 2 , JS LoCoco 2 , R Patidar 1 , A Peach 1 , C Zhao 2 , CE Camalier 1 , TC Chang 1 , AP Chen 3 , L Chen 1 , T Forbes 1 , S Katz 2 , N Nair 1 , D Sims 1 , G O'Sullivan-Coyne 3 , N Takabe 3 , M Saeed 1 , E Mosher 1 , G Rivera 1 , S Jiwani 1 , L Liu 2 , R Haigis 2 , R Vijayaraghavan 2 , PM Williams 1 , C Karlovich 1 , JH Doroshow 3 , Gerald Goh 4
  1. Molecular Characterization Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD
  2. Illumina, Inc, San Diego
  3. Division of Cancer Treatment and Diagnosis, National Cancer Institute, Bethesda, MD
  4. Illumina, Inc, Singapore

Liquid biopsies are emerging as a powerful complement to tumor biopsies for the clinical management of cancer patients. A large gene panel that accurately assesses all variant categories, tumor mutational burden (TMB), and microsatellite instability in plasma would be of high value for immunotherapy studies, monitoring minimal residual disease and for early cancer detection. Here we describe the initial validation for the cell-free DNA (cfDNA) assay, TruSight Oncology 500 ctDNA (TSO500 ctDNA; Illumina, Inc), which interrogates the full coding region of 523 genes plus selected intronic regions for fusion detection in 23 driver genes.