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Intended Use
The TSO Comp assay is designed to detect clinically relevant genomic alterations in solid malignancies. It serves two primary functions:
Companion Diagnostic (CDx) Identification
Determines eligibility for targeted therapies based on genomic biomarkers, as specified in the approved drug labeling.
Example: NTRK1/2/3 fusions → VITRAKVI® (larotrectinib); RET fusions → RETEVMO® (selpercatinib) for non-small cell lung cancer (NSCLC).
Comprehensive Tumor Profiling
Broad analysis of genomic variants supports evidence-based treatment decisions beyond CDx claims.
Helps oncologists assess tumor mutational burden (TMB), DNA/RNA fusion events, and other actionable mutations.
Technology: Next-Generation Sequencing (NGS)
Instrument: Illumina NextSeq 550Dx
Sample type: Formalin-fixed, paraffin-embedded (FFPE) tissue
Nucleic acids analyzed: DNA and RNA
Genes assessed: 517 DNA genes for somatic mutations; 24 RNA genes for fusion detection
Variant types: Single nucleotide variants (SNVs), multi-nucleotide variants (MNVs), insertions/deletions (indels ≤ 24 bp), RNA fusions, EGFR RNA splice variants, tumor mutational burden (TMB)
Turnaround time: 10 days
Validation: Clinically relevant variants confirmed using orthogonal methods.
1. Actionable Cancer Genomics
Genomic profiling is essential for understanding tumor biology and selecting targeted therapies. SomaticCheck+ detects mutations that influence cancer development, progression, and treatment response, including:
Oncogenic driver mutations (e.g., BRAF V600E, EGFR L858R, KRAS G12C)
Tumor suppressor alterations (e.g., TP53, PTEN, CDKN2A)
Fusions and splice variants (e.g., ALK, RET, NTRK fusions)
Immunotherapy-related biomarkers (e.g., TMB status)
2. Personalized Treatment Selection
By identifying clinically significant alterations, the SomaticCheck+ test enables precision therapy, optimizing patient outcomes through:
Targeted therapies (e.g., tyrosine kinase inhibitors, BRAF inhibitors)
Evaluation of immunotherapy response (e.g., high-TMB tumors)
Assessment of eligibility for clinical trials
3. Tumor Mutational Burden (TMB) and Immunotherapy Guidance
TMB is a key biomarker for predicting response to immune checkpoint inhibitors. SomaticCheck+ provides a validated TMB score, helping oncologists determine which patients may benefit from immunotherapy, particularly those with a high mutational burden.
The TSO Comp verification study, conducted by Genuvi, evaluated the analytical performance of the assay across three key validation parameters:
1. Analytical Accuracy
Objective: Assess the precision of variant detection.
Method: 48 FFPE clinical samples (24 DNA, 24 RNA) were analyzed using orthogonal sequencing methods to confirm results.
Results: High sensitivity and specificity across all variant types.
2. Analytical Precision (Reproducibility)
Objective: Evaluate test consistency across multiple runs, technicians, and instruments.
Method: Replicate testing of FFPE samples using different sequencing runs and operators.
Results: High intra-run and inter-run concordance rates.
3. Reportable Range
Objective: Define the range of variants reliably detected by the assay.
Results: Accurate detection across all 517 selected DNA genes and 24 RNA fusion genes.
Companion Diagnostic (CDx): Identifies patients eligible for FDA-approved targeted therapies.
Comprehensive Tumor Profiling: Provides broad genomic insights beyond standard testing.
TMB Calculation: Supports immunotherapy decision-making.
Multigene Panel (517 DNA + 24 RNA): Detects SNVs, indels, fusions, and splice variants in a single test.
High Sensitivity and Specificity: Verified against orthogonal sequencing methods.
Fast Turnaround Time (10 days): Enables rapid, evidence-based treatment decisions.
✅ FDA-approved and clinically validated
✅ Covers 517 DNA fusion genes and 24 RNA fusion genes
✅ Identifies key biomarkers for targeted therapies and immunotherapy
✅ Provides a critical TMB score for evaluating immunotherapy response
✅ Fast turnaround (10 days) for rapid clinical decision-making
For oncologists, molecular pathologists, and clinical researchers, SomaticCheck+ is an essential tool for delivering precise, next-generation cancer care in today’s evolving oncology landscape.
References
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U.S. Food and Drug Administration (FDA). FDA approves pembrolizumab for adults and children with TMB-H solid tumors. https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-pembrolizumab-adults-and-children-tmb-h-solid-tumors
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