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Target-Enhanced Whole-Genome Sequencing Shows Clinical Validity Equivalent to Commercially Available Targeted
Sangmoon Lee1, Jin Roh2, Jun Sung Park3
1Inocras Inc., San Diego, CA, USA.
Cancer Research and Treatment
|September 20, 2024
Summary
Target-enhanced whole-genome sequencing (TE-WGS) matches targeted-panel sequencing (TPS) for cancer biomarkers. TE-WGS uniquely identifies germline variants and genomic instability, enhancing personalized cancer treatment strategies.
Area of Science:
- Genomic Medicine
- Oncology
- Molecular Diagnostics
Background:
- Cancer treatment relies on precise genomic testing for personalized strategies.
- Targeted-panel sequencing (TPS) offers personalized oncology but has coverage limitations.
- Whole-genome sequencing (WGS) provides comprehensive genomic insights.
Purpose of the Study:
- To evaluate the clinical utility of target-enhanced WGS (TE-WGS) in personalized oncology.
- To compare TE-WGS performance against a mainstream TPS method (TruSight Oncology 500).
- To demonstrate the medical potential of WGS for comprehensive cancer analysis.
Main Methods:
- Clinical-grade TE-WGS was performed on 49 solid cancer patients.
- Matched normal tissues and peripheral blood were sequenced.
- TE-WGS results were compared with those from TruSight Oncology 500 (TSO500).
Main Results:
- TE-WGS detected all variants identified by TSO500 with high concordance (r=0.978).
- TE-WGS exclusively identified 44.8% of variants as germline from peripheral blood.
- TE-WGS accurately assessed copy number profiles, fusion genes, MSI, and HRD scores.
Conclusions:
- TE-WGS is a comprehensive tool for personalized oncology, matching TPS biomarker capabilities.
- TE-WGS uniquely identifies germline variants and genomic instability markers, enabling further clinical actions.
- TE-WGS offers adaptability and cost-effectiveness, proving its clinical utility in cancer treatment.
