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Why Comprehensive Genomic Profiling?

More Insights. Fewer Missed Opportunities.

With a single test, comprehensive genomic profiling (CGP) can analyze more than 300 genes across the four main classes of alterations: base substitutions, insertions and deletions, copy number alterations (CNAs), and rearrangements or fusions. This type of molecular testing produces comprehensive patient reports with a broad and deep assessment of possible underlying oncogenic drivers.

Illustration showing the four main types of alterations: base substitutions, insertions and deletions, copy number alterations (CNAs), and rearrangements or fusions

More and more patients can benefit from molecular profiling due to the rapidly growing number of targeted therapies. These include novel therapies being developed for less prevalent gene alterations like NTRK fusions, which have been identified in less than 1% of all cancers.1 Today, analyzing a broader panel of genes and for multiple classes of alterations has become increasingly important.

Illustration showing a targeted therapy bottle indicating 55+ new FDA-approved agents

Understanding the Difference Can Make a Difference.

CGP

Detects the four main classes of genomic alterations across a broader panel of genes

Single Marker

Identifies alterations that are confined to a single gene, potentially missing clinically relevant mutations in additional genes

Hotspot

May test multiple genes at a time, but it is confined to hotspot regions within those genes, resulting in potentially missing other clinically relevant classes of alterations

Comprehensive Genomic Profiling gene coverage verses hotspot coverage verses single-biomarker testing coverage

Biomarkers shown in table above are examples of relevant and emerging biomarkers in non-small cell lung cancer (NSCLC). Size is not representative of frequency of alterations.

NeoGenomics ALK FISH Test and Oncomine Dx are examples of single biomarker and hotspot tests.   

Common, Complex, and Rare

Comprehensive genomic profiling can provide more complete information on common oncogenic drivers (like EGFR, KRAS, BRAF in NSCLC for example) and new information on complex or rare biomarkers (like MET Exon 14, NTRK1, NTRK2, NTRK3 in NSCLC for example) all from a single test.2,3

Relevant Genomic Signatures

Comprehensive genomic profiling results include microsatellite instability (MSI) and tumor mutational burden (TMB) with the option to add programmed death ligand 1 (PD-L1)† testing to help inform immunotherapy decisions. Results include Loss of Heterozygosity (LOH) for ovarian cancer tissue.

Efficiency

While it is possible to order sequential testing of single biomarkers or limited hotspot panels in order to test for multiple oncogenic drivers, in some cases, this may quickly exhaust tissue sample. In these scenarios, tissue- or blood-based comprehensive genomic profiling is recommended by professional guidelines.4,5,6

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Time

Depending on the number of sequential tests ordered, comprehensive genomic profiling can save time as well. Results can be available in just 9 days from receipt of specimen.





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More Options

Blood-based comprehensive genomic profiling means patients who would not be able to receive results due to lack of tissue now have another option. In one study, 44% of NSCLC patients could not receive results.7




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References

1. Fabrizio, et al. Clinical and analytic validation of FoundationOne CDx for NTRK fusion-positive solid tumors in patients treated with entrectinib. In: Proceedings of the AACR-NCI-EORTC International Conference on Molecular Targets and Cancer Therapeutics; 2019. AACR; Mol Cancer Ther 2019; Abstract A028. doi:10.1158/1535-7163.TARG-19-A028 

2. Drilon A, et al. Broad, hybrid capture-based next-generation sequencing identifies actionable genomic alterations in “driver-negative”lung adenocarcinomas. Clin Cancer Res 2015;21:3631-3639. 

3. Rozenblum AB, et al. Clinical impact of hybrid capture-based next-generation sequencing on changes in treatment decisions in lung cancer.J ThoracOncol 2017;12(2):258-68. 

4. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Cutaneous Melanoma V.1.2020 

5. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Esophageal and Esophagogastric Junction Cancers V.4.2019 

6. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Non-Small Cell Lung Cancer V.2.2020 

7. Frampton GM, et al. Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat Biotech 2013;11:1023-1033.] 

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