Comprehensive genomic profiling of clinically relevant cancer biomarkers
GALEASTM Tumor
Enhanced comprehensive genomic profiling (CGP) of clinically relevant biomarkers at your fingertips
Overview
Consolidate CGP testing into one streamlined NGS workflow, from sample to data analysis
Tissue origin is not always an indicator of the genetic profile of a cancer. Broad profiling of SNVs, INDELs and CNVs combined with the use of prognostic biomarkers including microsatellite instability (MSI) status and tumor mutational burden (TMB), provides scientists and clinicians with a comprehensive malignancy profile. This delivers clinically actionable information and ensures rapid access to the most appropriate treatment and therapeutic strategies. However, covering this range of biomarkers can require the use of multiple testing workflows putting burden on laboratory resources.
Consolidating testing of different biomarkers and different cancer types into a single workflow enables genetic testing laboratories to streamline processes reducing turn-around times and cost burdens; resulting in faster patient results, quicker diagnoses and treatment decisions, all of which improves patient outcomes
Why choose GALEAS Tumor?
Enhanced, current and clinically relevant content
Expertly curated and focused on clinically relevant content GALEAS Tumor allows the profiling of key biomarkers and 519 genes aligned with the UK NHS national genomic test directory, NCCN, FDA and ESMO guidelines. The comprehensive design supports stratification of both common and rare cancers in a single workflow.
Reliably and robustly detect CNVs
Whilst exon focused, GALEAS Tumor covers key intronic and promoter regions and leverages a >1Mb genome wide CNV backbone enabling enhanced CNV calling and detection of key clinical CNVs across the genome.
Supported by GALEAS analysis software
Developed in parallel with the GALEAS Tumor panel and completely complimentary, the GALEAS Tumor analysis software provides users with an intuitive bioinformatics solution for accurate variant calling and supports rapid integration into routine use.
Truly comprehensive in design, GALEAS Tumor offers laboratories a single workflow for genomic profiling of a wide range of common cancer biomarkers, including content for hereditary and pediatric cancer.
Complimentary access to GALEAS analysis cloud-based software delivering high quality, wide-ranging variant calling and genome wide scores
Cutting-edge bioinformatics pipelines were developed in tandem with, and specifically for GALEAS Tumor ensuring best in class precision and recall of all key variant types (SNV, INDEL, CNV and SV’s) as well as genome wide scores for MSI and TMB.
This turn-key software solution requires no specialist bioinformatic knowledge, enabling labs to rapidly integrate GALEAS Tumor into routine use.
Including pre-validated, optimised variant calling software with GALEAS Tumor gives clinical scientists confidence that they can deliver the robust, reliable and clinically actionable information that is critical for downstream interpretation. This ultimately supports clinicians with personalized medicine approaches and helps to inform their clinical decisions.
Product Specifications
GALEAS Tumor
The enhanced content of GALEAS Tumor, combined with optimized bioinformatics developed in parallel with the panel, enables scientists and clinicians to confidently detect a wide range of gene aberrations known to drive cancer, from SNVs, INDELs, selected fusions and genome-wide CNVs, to biomarkers for TMB and MSI across 519 genes.
Whilst exon focused, the design of GALEAS Tumor covers key intronic and promoter regions and contains a CNV backbone to support copy number calling across the genome. It is a comprehensive panel that allows the profiling and accurate identification of variants associated with both common and rare cancers in a single workflow.
- GALEAS Tumor leverages ultra-sensitive targeted NGS chemistry pioneered by Nonacus to maximize sequencing efficiency.
- A high percentage of on-target reads combined with superior uniformity of coverage ensures exceptional technical performance delivering high recall and precision across detected variants.
- Sequencing more on-target DNA allows laboratories to sequence more content for less resulting in a far more cost-effective approach to comprehensive genetic analysis.
| Number of genes | 519 |
| Capture panel size (Mb) | 3.74 Mb |
| Gb required for mean 500x coverage (2x100bp PE) | 5 Gb |
| Percentage coverage ≥250x | 98% |
| Percentage on or near bait | 71% |
| Percent duplication | 9% |
| SNV recall | 100% |
| INDEL recall | 100% |
GALEAS Tumor demonstrates unrivalled robust and accurate variant calling for primary tumor profiling of FFPE DNA, validating its position as a reliable solution for precise genetic analysis in the field of tumor profiling
Features of GALEAS Tumor
- Extensive common cancer content including hereditary and pediatric cancer
- Common driver mutations including SNVs, CNVs and INDELs in 519 genes
- Enhanced coverage of the 1p/19q co-deletion associated with Glioma
- Enhanced CNV calling leveraging a >1Mb genome wide CNV backbone
- Probes for MSI and TMB Immuno-oncology biomarker scoring
- 10 Fusion/Structural rearrangements: ALK, BRAF, EGFR, FGFR2, FGFR3, NTRK1, NTRK2, RET, ROS1, TMPRSS2
- Sample Identity tracking SNPs
- 64 Pharmacogenomics (oncology) SNPs
- HLA design relevant for solid tumors
Workflow
The GALEAS Tumor workflow is simple and easy
gDNA, FFPE DNA samples
Wide range of sample types including FFPE, frozen tissue and blood
DNA extraction kits
GALEAS Tumor
Illumina NGS Sequencing System
GALEAS analysis software
Utilize third party tertiary software for interpretation and reporting
Technical performance
Delivering clinical precision:
GALEAS Tumor confidently identifies somatic variants with 100% recall and precision
GALEAS Tumor confidently identified somatic variants in a colorectal cancer (CRC) cohort with 100% recall and precision (Figure 1). The efficacy of the GALEAS Tumor workflow was assessed using reference material from FFPE containing 23 SNVs and INDELs that had previously been confirmed by ddPCR.
A strong correlation between NGS and ddPCR- determined VAFs was observed with a mean depth of 500x (R2 = 0.99) (Figure 2).
Figure 1: Oncoplot from 50 CRC FFPE cohort highlighting detection of somatic mutations in genes with known cancer hotspots
Figure 2: SNV and INDEL recall rate for alterations in reference material from FFPE
Unveiling copy number insights:
GALEAS Tumor delivers precision CNV detection
The design of GALEAS Tumor incorporates a copy number backbone targeting informative genome wide SNPs enabling enhanced CNV calling to a >1 Mb resolution.
Strong correlation of GALEAS Tumor SNP backbone data with shallow whole genome sequencing (sWGS) demonstrates its efficacy as a reliable tool for comprehensive CNV analysis in clinical genomic profiling (Figure 3).
Samples with varying copy numbers were assessed using GALEAS Tumor. The three samples assessed had known copy number variations in EGFR and MET that consist of 3, 6 and 12 copies. They were quantitatively confirmed by GALEAS Tumor, leveraging the genome-wide SNP backbone design (Figure 4).
Figure 4: Validating gene level CNV calls with a CNV Lung and Brain Mix reference standard at (A) 12, (B) 6, and (C) 3 copies. Genes highlighted here are EGFR and MET.
Figure 3: Comparison of GALEAS Tumor SNP backbone data with sWGS for a representative colorectal cancer sample
Empowering access to immunotherapy treatment:
GALEAS Tumor delivers a combined tumor genomic instability measurement for TMB and MSI
GALEAS Tumor demonstrates excellent utility as a solution for the determination of MSI scoring and TMB status, offering a clinically viable solution to help match patients with appropriate immunotherapies.
GALEAS Tumor correctly identified 100% of MSS (microsatellite stable) and normal samples, and 23/24 MSI-H (microsatellite instability-high) CRC samples evaluated (Figure 5).
TMB is a key immuno-oncology biomarker across multiple cancer types and has been shown to correlate strongly with MSI status in colorectal cancer. 1, 2 A strong correlation was observed between the GALEAS Tumor derived TMB scores for a CRC cohort (Median TMB 28.24, log2 TMB 1.45) and corresponding sample MSI status (Figure 6).
Figure 5: Comparisons of GALEAS Tumor MSI scores with known MSI status from CRC primary tumor samples (MSS-High), healthy individuals (MSS) and reference standards.
Figure 6: GALEAS Tumor TMB scores across 50 CRC samples compared with MSI
References
1. Endris V, Buchhalter I, Allgäuer M, Rempel E, Lier A, Volckmar AL, et al. Measurement of tumor mutational burden (TMB) in routine molecular diagnostics: in silico and real‐life analysis of three larger gene panels. International Journal of Cancer. 2019;144(9):2303-12.
2. Schrock AB, Ouyang C, Sandhu J, Sokol E, Jin D, Ross JS, et al. Tumor mutational burden is predictive of response to immune checkpoint inhibitors in MSI-high metastatic colorectal cancer. Annals of Oncology. 2019;30(7):1096-103.
For Research Use Only. Not for use in diagnostic procedures.
See our customer publications
| Parameters | Specification |
| Enrichment method | Hybridization and capture |
| Number of genes | 519 |
| Capture Panel Size | 3.74Mb |
| Sequencing platform | Illumina |
| Targets | Genes associated with common cancers |
| Variant types | SNVs, CNVs and indels |
| Input DNA requirements | 10ng-200ng |
| Sample type | gDNA from FFPE, frozen tissue or blood |
| Multiplexing guidance for sequencing | 25M reads per sample required to achieve 500x. This equates to 5Gb per sample |
| Product Name | Catalogue No. |
| GALEAS Tumor Kit Frag A (96 samples) | NGS_GAL_TCP_FR_96_A |
| GALEAS Tumor Kit Frag B (96 samples) | NGS_GAL_TCP_FR_96_B |
| GALEAS Tumor Kit Frag C (96 samples) | NGS_GAL_TCP_FR_96_C |
| GALEAS Tumor Kit Frag D (96 samples) | NGS_GAL_TCP_FR_96_D |
| GALEAS Tumor Kit Frag (16 samples) | NGS_GAL_TCP_FR_16 |
Which clinical guidelines does GALEAS Tumor cover?
Clinically relevant content is aligned with the UK NHS national genomic test directory, NCCN, FDA and ESMO guidelines.
What coverage does the panel have for BRCA1 and BRCA2?
Full coding exon coverage.
Can you sequence GALEAS Tumor libraries on Illumina sequencers?
GALEAS Tumor is compatible with all Illumina Sequencers. For solid tumor samples, to obtain optimal results and be able to detect variants down to an expected 1% Variant Allele Frequency (VAF) at 500x average depth of coverage, it is recommended that each sample be sequenced to achieve 5 Gb of data, or 25 million reads using 2×100 bp paired end sequencing. On this basis, select the Illumina platform and flow cell that will enable desired throughput at these conditions.
Can I detect fusions other than those stated in your literature?
There is potential to detect fusions from any capture region in the panel, not just the key fusions stated in literature.
Can I automate the GALEAS Tumor workflow?
Hamilton platforms will initially support automation, but we would be happy to work with customers directly to support specific needs for a certain platform. If you are interested in automating this workflow, contact your account manager.
