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GALEAS™ Tumor

  • Products
  • Cancer Genetics
  • GALEAS™ Tumor

Enhanced comprehensive genomic profiling (CGP) of clinically relevant biomarkers regardless of tumor origin at your fingertips

Consolidate CGP testing into one streamlined NGS workflow, from sample to data analysis

Cancer is a complex and heterogeneous disease that is a leading cause of death worldwide, with approximately 375,000 new cases reported in the UK each year. Breast, prostate, lung, and bowel cancers are responsible for over half of all new cancer cases. Understanding the various types and subtypes of cancer, as well as the genetic abnormalities that drive individual cancers, is crucial for effective diagnosis and treatment.1,2 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 ​

1 Ciriello G., Miller ML., Askoy BA., Senbabaoglu Y., Schultz N., Sander C. “Emerging landscape of oncogenic signatures across human cancers.” Nature genetics (2013): 1127-1133. 2 The ICGC/TCGA PanCancer Analysis of Whole Genomes Consortium. “Pan-cancer analysis of whole genomes.” Nature (2020): 82-93.

Truly comprehensive in design, GALEAS Tumor offers laboratories a single workflow for genomic profiling of a wide range of common cancer biomarkers, including hereditary and pediatric, regardless of tumor origin.

GALEAS Tumor

The enhanced content of GALEAS Tumor combined with optimised bioinformatics 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 panel design 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 cancer to stratify all common cancers in a single workflow.
  • GALEAS Tumor leverages ultra-sensitive targeted NGS chemistry pioneered by Nonacus to maximize sequencing efficiency.

  • It delivers a high percentage of on-target reads, with superior uniformity of coverage ensuring exceptional technical performance and delivering high recall and precision across detected variants.

  • By enabling the sequencing of more on-target DNA using less sequencing resource, Nonacus achieves higher content with reduced resource requirements, resulting in a revolutionary approach to comprehensive genetic analysis.

Key quality indicator

GALEAS Tumor
Number of Genes 519
Capture Panel size (Mb) 3.74Mb
Gb required for mean
500x coverage		 5Gb
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

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).

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 >1Mb 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 3. Comparison of GALEAS Tumor SNP backbone data with sWGS for a representative colorectal cancer sample

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.

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 3, 4. 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).

3 https://doi.org/10.1002/ijc.32002 Endris V, Buchhalter I, Allgäuer M et al. Measurement of tumor mutational burden (TMB) in routine molecular diagnostics: In-silico and real-life analysis of three larger gene panels. Int J Cancer 2019; 144: 2303– 2312.

4 https://www.annalsofoncology.org/article/S0923-7534(19)31240-2/fulltext

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.

Access to the cloud-based GALEAS Analysis Software delivers a comprehensive variant calling pipeline

Cutting-edge bioinformatics pipelines are included with GALEAS Tumor. This cloud-based software solution has been specifically tailored and optimized for secondary calling, guaranteeing a robust and accurate analysis of somatic variants. This is critical to ensuring reliable downstream interpretation analysis and providing clinicians with reliable data to help them make informed decisions regarding patient care and treatment strategies.

In line with the dynamic field of immuno-oncology, our software provides invaluable insights into tumor biology and profiling incorporating essential biomarkers such as TMB and MSI, which are crucial for tumor characterization and treatment decisions. These biomarkers enable personalized medicine approaches and informed clinical decision support.

Experience the analytical power of GALEAS Analysis Software for variant calling to optimise genomic data interpretation to new levels of excellence.

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 codeletion associated with Glioma
  • CNV backbone enabling enhanced CNV calling to a >1Mb resolution
  • Probes for MSI and TMB Immuno-oncology biomarker scoring
  • Fusion/Structural rearrangements​ including: ALK, BRAF, EGFR, FGFR2, FGFR3,​ NTRK1, NTRK2, RET, ROS1, TMPRSS2
  • Identity tracking SNPs
  • 64 Pharmacogenomics (oncology) SNPs
  • HLA genes relevant for solid tumors

Why choose GALEAS Tumor?

Enhanced, current and clinically relevant content

Expertly curated content with 100% UK test directory coverage enabling the profiling of key clinically relevant biomarkers across 519 genes. Comprehensive in design, GALEAS Tumor allows the profiling and accurate identification of variants associated with cancer to stratify all common cancers in a single workflow.

Reliably and robustly detect CNVs


Whilst exon focused, GALEAS Tumor covers key intronic and promoter regions and contains a CNV backbone enabling enhanced CNV calling to a >1Mb resolution to support copy number calling across the genome.

Supported by GALEAS Analysis Software

Optimized for GALEAS panels, our cloud-based bioinformatics pipelines deliver accurate calling of SNPs, INDELs and CNVs associated with all common cancers.

The GALEAS Analysis Software has also been designed for the analysis of both TMB and MSI.

The GALEAS HereditaryPlus workflow is simple and easy.

Taking less than 10 hours, with less than 2 hours hands-on time, it is designed with multiple stop points to provide flexibility within laboratory processing. Library preparation can be run manually or automated up to 96 samples in a single run. Indexes are available for up to 384 samples to allow for flexible batch sizes and scalability across all Illumina benchtop sequencers.

gDNA samples

Wide range of sample types

Prepare samples

BeadXtract DNA extraction kits

Prepare libraries and enrich

GALEAS HereditaryPlus

Sequence

Illumina NGS Sequencing System

Call variants

GALEAS Analysis software

Interpret and report

Secondary software for interpretation and reporting

GALEAS HereditaryPlus eliminates the need for time-consuming and costly supplementary tests providing laboratories with a consolidated and efficient testing workflow for hereditary cancer.

Cloud-based GALEAS Analysis software delivers a comprehensive variant calling pipeline.

Cutting-edge bioinformatics pipelines are included with GALEAS HereditaryPlus. Our cloud-based software solution has been specifically tailored to work seamlessly with our NGS panel and optimized for secondary calling and comes with an in-built panel of normals to deliver optimum sensitivity for CNV calling. All of this guarantees a robust and accurate analysis of germline variants critical to ensuring reliable downstream interpretation analysis and providing clinicians with reliable data to help them make informed decisions regarding personalized care and treatment strategies.

Features of GALEAS HereditaryPlus:

 
  • 146 genes with known associations to hereditary cancers
  • Coverage of all key cancer syndromes and pediatric cancer genes
  • Full coverage of the UK National Genomics Test Directory and compliant with ESMO and AMP guidelines
  • 100% recall for SNVs and indels in clinical samples
  • Enhanced CNV calling capabilities of key cancer susceptibility loci from single exon to whole gene alterations
  • Cloud-based variant calling pipelines to ensure accurate calling and reliable downstream interpretation
  • In-built panel of normals for optimum sensitivity in CNV calling
  • Identity tracking with 24 carefully selected SNPs
  • Seamless integration with decision support software

Why choose GALEAS HereditaryPlus?

 

Avoid unnecessary ancillary testing like MLPA or Sanger sequencing

Confidently call all variants including MSH2 c.942+3A>T variant a wide range of CNVs in genes such as APC, MHS2, BRCA1 and PMS2 with one NGS based workflow.

 

Validate and run a single workflow for all hereditary cancers.

Consolidate workflows for all hereditary cancers including breast, prostate, Lynch syndrome and Wilms tumor, reducing operational time and cost.

 

Streamline bioinformatics with GALEAS Analysis Software

Optimized for the GALEAS HereditaryPlus panel, our cloud-based bioinformatics pipelines deliver the accurate variant calling critical for reliable downstream interpretation.

Key quality indicator

GALEAS HereditaryPlus

Company I
Number of Genes 146 113
Capture Panel size (kb) 809 403
MB required for mean 100x coverage 130 MB 116.6 MB
Percentage coverage >30x 99% 96%
Percentage on bait 71.2% 37.0%
Percentage on or near bait 81% 61.51%
Percent duplication 2.0% 8.99%
SNV recall 99.7% 98.1%
Indel Recall 100% 97.2%

The GALEAS HereditaryPlus workflow is simple and easy.

Taking less than 10 hours, with less than 2 hours hands-on time, it is designed with multiple stop points to provide flexibility within laboratory processing. Library preparation can be run manually or automated up to 96 samples in a single run. Indexes are available for up to 384 samples to allow for flexible batch sizes and scalability across all Illumina benchtop sequencers.

gDNA samples

Wide range of sample types

Prepare samples

BeadXtract DNA extraction kits

Prepare libraries and enrich

GALEAS HereditaryPlus

Sequence

Illumina NGS Sequencing System

Call variants

GALEAS Analysis software

Interpret and report

Secondary software for interpretation and reporting

GALEAS HereditaryPlus Protocol [PDF]

 

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GALEAS HereditaryPlus Datasheet [PDF]

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GALEAS HereditaryPlus Poster [PDF]

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Parameters

Specification
Enrichment method Hybridization and capture
Number of genes 146
Capture Panel size 809 kb
Sequencing platform Illumina
Targets Genes associated with hereditary cancer
Variant types SNVs, CNVs and INDELs
Input DNA requirements* 10ng-200ng
Sample type gDNA from blood or saliva
Multiplexing guidance for sequencing 500K reads per sample required to achieve 100x. This equates to 0.15Gb per sample

Product Description

Pack Size

Catalogue Number
GALEAS HereditaryPlus 16 samples NGS_GAL_HCP_FR_16
(with enzymatic fragmentation for gDNA) 96 samples NGS_GAL_HCP_FR_96_A/B/C/D*

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