Cancer Genomics & Oncology: Precision Tumor Profiling & Clinical Impact
White Paper
October 2025
Authors: Dr. Priya Nair, Dr. Alex Kim, Dr.
Lisa Wang
Comprehensive clinical validation of a cancer genomics platform for tumor profiling, liquid biopsy, and precision oncology applications. This white paper details the methodology, results, and clinical impact of advanced genomics in oncology.
Executive Summary
- 20+ cancer types profiled (solid & hematologic)
- 92% concordance with tissue biopsy for liquid biopsy
- 1,200+ actionable mutations detected
- 50+ precision oncology clinical trials enabled
20+
Cancer Types
92%
Liquid Biopsy Concordance
1,200+
Actionable Mutations
50+
Clinical Trials
Methodology
- Sample Collection: Tumor tissue and blood samples from 2,000+ patients across 20 cancer types.
- Sequencing: Hybrid-capture NGS panel (500+ genes), WES, and RNA-seq for transcriptome profiling.
- Bioinformatics: AI-driven variant calling, fusion detection, and copy number analysis.
- Clinical Annotation: Actionability assessment using OncoKB, CIViC, and clinical trial databases.
Figure: End-to-end workflow for cancer genomics profiling and clinical reporting.
Results & Clinical Impact
- High Sensitivity & Specificity: 98% sensitivity and 97% specificity for key driver mutations (EGFR, KRAS, BRAF, TP53, etc.).
- Liquid Biopsy Validation: 92% concordance with matched tissue biopsy in 500+ cases.
- Actionable Findings: 1,200+ actionable mutations linked to FDA/EMA-approved therapies and clinical trials.
- Clinical Trials: Enabled patient enrollment in 50+ precision oncology trials.
- Turnaround Time: Median 7 days from sample receipt to report.
Highlight: Real-world impact demonstrated by improved patient outcomes and therapy
selection in advanced cancer cases.
Conclusions
Cancer genomics platforms are transforming oncology by enabling comprehensive tumor profiling, non-invasive liquid biopsy, and precision therapy selection. Clinical validation demonstrates robust performance, high concordance, and significant impact on patient care and clinical research.
References
- Schwartzberg L, et al. "Precision Oncology: Integrating Genomics into Cancer Care." JCO Oncol Pract. 2022.
- Meric-Bernstam F, et al. "Clinical Impact of Comprehensive Genomic Profiling in Cancer." Nat Rev Clin Oncol. 2023.
- FDA. "Liquid Biopsy in Oncology Drug and Device Development." Guidance for Industry. 2024.