Proprietary bioinformatics coupled with extensive clinical curation results in reporting that defines clinically actionable, FDA-cleared, and clinical trial drugs for the treatment of the patient’s cancer.

Oncotarget published “Analytical Validation and Clinical Use of the Comprehensive Genome Profile Assay GEM ExTra®”, in which it was reported that the authors developed and analytically validated a comprehensive genome profile assay GEM ExTra for patients with advanced solid tumors, which is used to characterize the Next Generation sequencing uses whole exomes using a paired tumor-normal subtraction method.

The assay detects single nucleotide variants, indels, changes in the focal copy number, the TERT promoter region as well as exposure to tumor mutations and the status of microsatellite instability.

In addition, the assay includes full transcriptome sequencing of the tumor sample, allowing detection of gene fusions and selection of specific transcripts, including AR-V7, EGFR vIII, EGFRvIV, and MET exon 14 skipping events.

The assay has mean target coverage of 180X for normal and 400X for tumor DNA, including an improved probe design to facilitate sequencing of difficult regions.

Proprietary bioinformatics coupled with extensive clinical curation results in reporting that defines clinically actionable, FDA-cleared, and clinical trial drugs for the treatment of the patient’s cancer.

Proprietary bioinformatics coupled with extensive clinical curation results in reporting that defines clinically actionable, FDA-cleared, and clinical trial drugs for the treatment of the patient’s cancer.

Dr. Thomas Royce of Ashion Analytics, LLC said: “Cancer has a high clinical burden and oncological therapies are expensive.

There are a few predominant laboratories performing CGP tumor testing for the intended purpose of providing clinical decision support for therapy selection in cancer.

GEM ExTra uses full exome sequencing for tumor DNA profiling and tests all protein-coding genes in a sample. This shows that the test will be comprehensive now and in the future.

GEM ExTra provides somatic variant calls based on tumor and concerted germline sequencing, which enables improved differentiation of somatic variants from rare, benign germline variants compared to the tumor-only analysis used by other CGP tests.

GEM ExTra also identifies clinically actionable transcript variants and fusion genes through transcriptome sequencing. These are typically undetectable by conventional CGP tests that only use DNA analysis.

The test is designed to provide health care professionals with clinically actionable information to make patient management decisions based on the genomic profile of a cancer patient’s tumor.

The Royce Research Team concluded in its Oncotarget Research Output that the analytical performance characteristics of the assay were validated by comparing patient samples with reference assays and actionable variants were identified in tumors to guide treatment decisions in oncology patients.

The test was used in over 1,400 patient samples from April 2018 to December 2019 at various cancer centers to identify several actionable changes in a variety of cancers.

Reports of these actionable mutations have been used to educate patient care, including assigning patients to available targeted therapies or clinical trials.

The data from clinical laboratory tests are generally consistent with data in the literature and underscore the value of using this comprehensive pan-cancer genomic test for the clinical management of patients with advanced cancer.

As of December 2019, Ashion was added to the list of commercial laboratories dedicated to identifying eligible patients and referring them to the NCI-MATCH study.

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DOI – https: //.doi.org /10.18632 /oncotarget.27945

Full text – https: //.www.oncotarget.com /Items/27945 /Text/

Correspondence – Thomas Royce – [email protected]

keywords – –
comprehensive genomic profiling,
Sequencing the entire exome,
RNA sequencing,
Precision medicine,
Pan cancer

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