CGP can detect biomarkers at nucleotide-level resolution and typically comprises all major genomic variant classes (SNVs, indels, CNVs, fusions, splice variants), as well as large genomic signatures (TMB, MSI), maximizing the ability to find clinically actionable alterations.
CGP consolidates biomarker detection into a single multiplex assay, eliminating the need for sequential testing. With a single test, you can assess the most prevalent as well as rare biomarkers. By assessing all biomarkers at once, you may increase chances of finding an actionable alteration. This potentially provides faster results, limits the input of precious biopsy samples, and may reduce the risks and cost associated with rebiopsy.1,2
CGP can offer both actionable and potentially actionable results to help identify more effective therapeutic paths and innovative clinical trial options for cancer patients. When tissue biopsies are unavailable, CGP from liquid biopsy may provide helpful information about a tumor's genomic make-up. CGP using tissue and liquid biopsy together may reveal more insights into a tumor's composition.3,4
Multiple studies have demonstrated the ability of CGP to identify potentially clinically relevant genomic alterations, across different tumor types.
|Potentially Actionable Variants Identified in Patient Samples||Patient Cohort||Author|
|Single center, prospective study with 339 patients. Refractory cancers, multiple types: ovarian (18%), breast (16%), sarcoma (13%), renal (7%) and others||Wheeler et al 20166|
|Prospective study with 100 patients, diverse-histology, rare, or poor-prognosis cancers||Hirschfield et al 20167|
|Prospective study with 10,000 patients with advanced cancer aross a vast array of solid tumor types||Zehir et al 20178|
|Retrospective study with 96 patients across multiple tumor types||Reitsma et al 20199|
|6,832 NSCLC patients||Suh et al 201610|
The % of actionable alterations identified in each study varies according to patient cohort, study type, CGP panel used, and criteria for categorizing a genomic alteration as actionable.
Data on file.
Single-gene assays are limited to a single biomarker. Many times these assays do not cover the entire gene sequence, with the risk of missing important gene alterations.13
An iterative single-gene testing approach can lead to tissue depletion and repeat biopsies.13,15,16
Targeted panels typically offer coverage of specific genes instead of the entire coding sequence. As a result they can miss important alterations.7
A comprehensive single assay that assesses a wide range of biomarkers increases the chances of obtaining relevant information vs. targeted panels.
CGP can yield TMB results comparable to whole-exome sequencing at a lower cost with less sequencing. Not only can whole-exome sequencing be cost-prohibitive when developing a personalized medicine approach, but because it requires a high amount of sequencing, coverage might be inadequate to detect important variants present in lower frequencies.17-21
Adding comprehensive genomic profiling to your lab’s in-house test menu can provide a number of added benefits. These include:
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