Illumina, Inc. (NASDAQ: ILMN) today announces the launch of TruSightTM Oncology 500 (TSO 500), a comprehensive pan-cancer assay designed to identify known and emerging tumor biomarkers. TruSight Oncology 500 utilizes both DNA and RNA from subject tumor samples to identify key somatic variants underlying tumor progression, such as small DNA variants, fusions, and splice variants. Importantly, TruSight Oncology 500 can measure tumor mutational burden (TMB) and microsatellite instability (MSI), features that are potentially key biomarkers for emerging immunotherapies. TruSight Oncology 500 is for research use only and will ship in Q1 2019.
Molecular testing in lung cancer has been at the forefront of precision oncology. The use of targeted therapies is associated with improved outcomes in some patients, and currently requires testing multiple biomarkers, such as EGFR mutations, ALK fusions, and ROS fusions, among others. Recently, TMB gained prominence as a biomarker that demonstrates better response and survival from immune checkpoint inhibitors in patients exhibiting high TMB, necessitating the need for comprehensive sequencing. Reliable measurement of TMB in a tumor-only workflow requires sequencing of approximately 1Mb or greater, specific and sensitive variant calling, as well as bioinformatic methods to flag and remove germline variants. Given the increasing number of biomarkers required to fully understand the optimal therapeutic course, assays like TruSight Oncology 500—one of the largest and most comprehensive panels to-date—encompasses all of these biomarkers, making it an ideal choice for cancer researchers today.
“The importance of tumor mutational burden as a biomarker to predict immune checkpoint inhibition response continues to grow in non-small cell lung cancer,” said Albrecht Stenzinger, MD, pathologist at University Hospital Heidelberg, Germany. “However, the detection of somatic biomarkers, such as ALK fusions and EGFR small variants, are also vital. The workflow of TSO 500, using both DNA and RNA, enables laboratories to evaluate TMB, as well as small DNA variants and fusions simultaneously, ultimately saving time and preserving precious samples.”