The FDA has Cleared Omics Core℠, part of the GPS Cancer Molecular Profiling Suite
Omics Core is the nation’s first tumor normal mutation profiling of overall tumor mutational burden (TMB). The test sequences 19,396 protein-coding genes (whole exome) targeting 39 million base pairs (39 Mb) of the human genome from patient tumor and matched normal sample (tumor-normal), for true determination of overall TMB, rather than the commonly-used formulaic extrapolation of TMB from gene panel sequencing.
TMB, the measure of all acquired gene-coding mutations in a tumor genome, is an emerging biomarker predicting response to checkpoint therapy and identifies tumors that may benefit from immunotherapy.
Omics Core additionally reports somatic mutations in 468 cancer-relevant genes accurate to 2% allele frequency providing a means to guide physician treatment decisions.
Molecular Insights You Can Rely On – Tumor-Normal Sequencing of DNA + RNA Expression
When faced with a difficult treatment decision, GPS Cancer® offers a precise and comprehensive molecular profile, providing oncologists with unprecedented insights into the molecular signature of each patient’s cancer to inform personalized treatment strategies. This unique profile:
The Omics Core assay is a qualitative in vitro diagnostic test that uses targeted next generation sequencing of formalin-fixed paraffin-embedded tumor tissue matched with normal specimens from patients with solid malignant neoplasms to detect tumor gene alterations in a broad multi gene panel.
The test is intended to provide information on somatic mutations (point mutations and small insertions and deletions) and tumor mutational burden (TMB) for use by qualified health care professionals in accordance with professional guidelines, and is not conclusive or prescriptive for labeled use of any specific therapeutic product.
Omics Core is a single-site assay performed at NantHealth, Inc. The Omics Core assay is protected by US Patents 9,652,587; 9,646,134; 9,824,181; 10,249,384; 9,721,062; 10,242,155; 10,268,800.
Includes whole genome/exome sequencing of 20,000 genes and 3 billion base pairs
Incorporates whole transcriptome sequencing of over 200,000 RNA transcripts
Compares a patient’s tumor genome to their normal genome and provides pharmacogenomic analysis for potential drug toxicity and/or interactions
Based on the tumor’s “molecular fingerprint”, GPS Cancer offers insight into therapies that may have potential benefit, including FDA approved therapies and active clinical trials, and therapies to which the cancer may be resistant. GPS Cancer is performed in CAP-accredited, CLIA-certified labs.
How Precise Is Your Precision Medicine?
When striving to deliver precision cancer care, it’s essential to have precise information. When a test identifies a target for a drug, you need to be confident that the target is there.
At NantHealth, we believe that looking at tumor DNA is not enough. Increasingly, research is showing that tumor-only sequencing can allow false positive mutation calls by not adequately filtering out germline mutations. Likewise, alterations in DNA are sometimes not transcribed into altered RNA or expressed as protein, and as such, may not be viable targets for drug treatment.
Why Tumor-Normal Sequencing
Tumor-normal sequencing may help avoid inappropriate therapies due to misinterpretation of inherited mutations as somatic and confirms provenance — i.e., that the tumor being tested comes from that patient.
John Hopkins – “a tumor-only sequencing approach could not definitively identify germline changes in cancer-predisposing genes and led to additional false-positive findings comprising 31% and 65% of alterations identified in targeted and exome analyses, respectively, including in potentially actionable genes.” ¹
Moffitt Cancer Center – “Matched tumor/normal mutation detection is more appropriate for applications requiring high precision such as novel mutation detection and mutation signature analysis and remains the optimal approach.” ²
Whole transcriptome (RNA) sequencing may help avoid inappropriate therapies by confirming genomic alterations that may result in expression of abnormal protein. RNA sequencing provides a quantitative measure of gene expression, and identifies gene fusions resulting from genomic translocations.
Advancements in genome (DNA) sequencing have been instrumental in understanding genomic alterations that may drive a patient’s cancer, but genomic sequencing alone is only part of the story.
DNA is the blueprint for RNA. Emerging research4 shows that alterations in DNA are sometimes not transcribed into altered RNA, or expressed as protein. Likewise, alterations are sometimes introduced at the RNA or protein level that are not detectable at the DNA level.
RNA is the blueprint for protein. To make the most informed treatment decisions, it is essential to understand the impact of genomic alterations on RNA expression and protein.
References: 1 Jones et al. Personalized genomic analyses for cancer mutation discovery and interpretation. Sci Transl Med. 2015 April 15; 7(283): 283ra53. 2 Teer JK et al. Evaluating somatic tumor mutation detection without matched normal samples. Human Genomics. 2017;11:22. 3 Rabizadeh et al. Comprehensive genomic transcriptomic tumor-normal gene panel analysis for enhanced precision in patients with lung cancer. Oncotarget. 2018; 9:19223-19232. This is an open-access article distributed under the terms of the Creative Commons Attribution License 3.0 (CC BY 3.0). 4 Wang Q, Xia J, Jia P, Pao W, Zhao Z. Application of next generation sequencing to human gene fusion detection: computational tools, features and perspectives. Briefings in Bioinformatics. 2013;14(4):506-519.May;7(5):201-4.
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Research Oncotarget (April 2018)