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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Next-Generation Sequencing (NGS) Utility in Advanced Solid Tumors in Low- and Middle-Income Country (LMIC) Setting
Prakriti Singh1, Abhinav Manish2, Amit Badola3
1Medical Oncology, Asian Institute of Medical Sciences, Faridabad, IND.
None:
Introduction Advancements in DNA sequencing have revolutionized our understanding of cancer biology, enabling comprehensive analysis of genetic alterations driving tumorigenesis. Next-generation sequencing (NGS) is increasingly integrated into oncology practice to identify actionable mutations and personalize therapy. However, its clinical utility in low- and middle-income countries (LMICs), where access to sequencing technologies and targeted treatments remains limited, is not well established. Methods This was a retrospective, single-center cohort study involving adult patients with advanced metastatic solid tumors who underwent NGS testing using either tumor tissue or liquid biopsy (Illumina platform, 560-gene panel, 1000X coverage). The primary endpoint was to evaluate the proportion of patients who received NGS-guided targeted therapy. The secondary endpoint was progression-free survival (PFS) in patients treated based on NGS findings. Data analysis was performed using Microsoft Excel 2016 (Microsoft Corp., Redmond, WA, USA). Results Over an 18-month period (January 2021 to June 2022), 93 patients were included. Genomic alterations were detected in 45% (n=42) of patients. Among these, 33% (n=31) had a potentially actionable mutation with an available targeted therapy or clinical trial option. Despite this, only 19% (n=18) received NGS-directed treatment. Of these, 44% (n=8) achieved a PFS of six months or more. Conclusion NGS can identify clinically relevant mutations in a significant proportion of advanced cancer patients in LMIC settings. However, real-world application is hindered by limited access to targeted therapies and clinical trials. Strategies to improve access and infrastructure are essential to realize the full potential of precision oncology in these regions.
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