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Updated: Feb 10, 2026
05:17
Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
Published on: October 10, 2025
421
Multi-laboratory proficiency testing of clinical cancer genomic profiling by next-generation sequencing
Qing Zhong1, Ulrich Wagner2, Henriette Kurt3
1Department of Pathology and Molecular Pathology, University Hospital Zurich, 8091, Zurich, Switzerland; Children's Medical Research Institute, University of Sydney, 2145, Westmead, Australia.
Pathology, Research and Practice
|May 30, 2018
Summary
Proficiency testing (PT) established standards for next-generation sequencing (NGS) in molecular diagnostics. This study demonstrated the accuracy and robustness of NGS for detecting actionable molecular alterations across multiple labs.
Area of Science:
- Genomics
- Molecular Diagnostics
- Clinical Laboratory Science
Background:
- Next-generation sequencing (NGS) is crucial for multiplexed molecular diagnostics.
- Lack of standardized protocols and inter-laboratory comparisons hinders clinical NGS adoption.
- Proficiency testing (PT) is needed to establish clinical NGS standards.
Purpose of the Study:
- To establish standards for next-generation sequencing (NGS) in molecular diagnostics.
- To assess the reproducibility and accuracy of NGS across multiple laboratories.
- To provide benchmark data for detecting clinically actionable molecular alterations.
Main Methods:
- Conducted a Proficiency Testing (PT) study with 15 European molecular diagnostic laboratories.
- Analyzed formalin-fixed paraffin-embedded lung and colon cancer specimens using three different NGS platforms.
- Validated platforms, tests, and informatics pipelines; implemented multi-level filtering for variant analysis.
Main Results:
- Achieved high inter-laboratory agreement in NGS data analysis.
- Demonstrated the accuracy, scalability, and robustness of NGS through PT.
- Provided validated datasets for inferring clinical NGS standards.
Conclusions:
- Proficiency testing is essential for establishing standards in NGS-based diagnostics.
- NGS demonstrates accuracy and robustness for detecting actionable molecular alterations.
- Standardized NGS testing is critical for reliable clinical decision-making.
Keywords:
Colon CancerLung CancerMolecular PathologyMulti-Laboratory TestNext Generation SequencingProficiency TestingMore Related Videos
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