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Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
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Molecular Diagnostics in Non-Small Cell Lung Carcinoma
1Department of Pathology, Harvard Medical School, Boston, Massachusetts.
Seminars in Respiratory and Critical Care Medicine
|May 26, 2020
Summary
Molecular profiling for lung cancer is shifting towards comprehensive gene panels, including next-generation sequencing (NGS), moving beyond single-gene tests. Assay selection depends on various factors, emphasizing no single best method for all non-small cell lung carcinoma patients.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genomics
Background:
- Essential molecular biomarkers (EGFR, BRAF, ALK, ROS1) and emerging genetic alterations are crucial for non-small cell lung carcinoma (NSCLC) patient management.
- Traditional single-gene testing is being replaced by comprehensive gene panels for broader alteration detection.
Purpose of the Study:
- To review current approaches in molecular diagnostics for NSCLC.
- To discuss the adoption and variability of next-generation sequencing (NGS) techniques.
- To highlight factors influencing the choice between single-gene and NGS-based panel assays.
Main Methods:
- Review of current clinical practice guidelines and diagnostic approaches for NSCLC.
- Discussion of the impact of next-generation sequencing (NGS) adoption.
- Analysis of preanalytic and postanalytic factors affecting molecular diagnostic quality.
Main Results:
- Laboratories are increasingly adopting gene panels over single-gene tests.
- NGS adoption varies significantly across practices.
- Cost, urgency, and clinical focus influence assay selection.
- Preanalytic and postanalytic factors critically impact results quality.
Conclusions:
- There is no universal genomic profiling test for lung cancer.
- Clinicians and laboratorians must offer diverse assays to meet turnaround times and detect challenging alterations like gene fusions.
- Optimizing molecular diagnostics requires careful consideration of assay choice and quality control.
