Recent advance of next-generation sequencing in patients with lung cancer

ABSTRACT

Introduction

Precision medicine based on the driver genes mutation status is the current systemic therapeutic paradigm in patients with lung cancer. Next-generation sequencing (NGS) has emerged as a powerful platform for molecular diagnosis by virtue of high-throughput and massively parallel sequencing. Liquid biopsy also enabled the dynamic monitoring and comprehensive profiling of lung cancer in a noninvasive manner. However, challenges remain in the field of technology and clinical applications, especially in the era of immunotherapy.

Areas covered

Here, we update the role of NGS in the context of lung cancer screening, molecular diagnosis, predictive and prognostic biomarkers, and guiding personalized treatment.

Expert opinion

The NGS application for actable genomic alternation has greatly changed the therapeutic landscape in patients with lung cancer including perioperative setting and advanced stage. Meanwhile, emerging evidence has shown the potential of other applications such as early screening and detection, and MRD. However, challenges remain such as the lack of standardized protocols across different platforms and bioinformatics analysis pipelines, and the complexity of interpreting and leveraging numerous genomic mutation messages for therapy selection. Future research is needed to overcome these challenges and expand the applications of NGS to other aspects such as immunotherapy.

KEYWORDS:

• Next-generation sequencing (NGS)
• precision medicine
• lung cancer
• molecular diagnostics
• liquid biopsy

Article highlights

• NGS is a powerful tool for identifying genomic alterations in lung cancer, providing a deep understanding of tumor biology and aiding clinical decision making.

• Liquid biopsy, a minimally invasive alternative to tissue biopsy, allows for the detection of tumor-derived genetic material in blood or other body fluids, enabling real-time monitoring of tumor progression or response to therapy.

• The use of NGS in liquid biopsy has revolutionized the field of lung cancer diagnosis and management, facilitating the identification of actionable mutations and the development of personalized treatment strategies.

• Challenges still exist in the implementation of NGS-based biopsy in clinical practice, including the need for standardized protocols, optimization of sequencing platforms, and interpretation of complex data, the clinical application of MRD detection, early diagnosis, and biomarkers for immunotherapy.

Declaration of interests

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This work was sponsored by grants from the National Natural Science Foundation of China (No. 82172869 and No. 81972167) and the Program of Shanghai Academic Research Leader (No. 21XD1423200).