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Published online: 2023-08-17

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Clinical and economic benefits of using next-generation sequencing (NGS) in the diagnostics of patients with non-small cell lung cancer with rare mutations

Katarzyna Stencel1, Bartosz Wasąg23, Cezary Pruszko4, Krystyna Dąbrowska4, Paweł Książek4, Karolina Dziadek4, Maciej Bryl1, Maciej Krzakowski5


Molecular diagnostics are necessary to make therapeutic decisions in patients with non-small cell lung cancer (NSCLC), especially regarding targeted therapies. They include the analysis of PD-L1 expression and mutations or rearrangements in the EGFR, KRAS, BRAF, ALK, ROS1, NTRK1/2/3, and RET genes. In Poland, it is recommended to perform analyses for point mutations in exons 18, 19, 20, and 21 of the EGFR gene and rearrangements of the ALK and ROS1 genes. Due to the turnaround time, costs, and availability of biological material, the benefits of routine use of NGS in NSCLC patients are increasingly highlighted compared to performing multiple tests of individual genes. Pharmacoeconomic analyzes were conducted to assess the impact of the use of next-generation sequencing (NGS) in clinical practice on the budget of the public payer in Poland in comparison with the current practice. They demonstrated a decrease in incremental expenses of the public payer related to molecular diagnostics with NGS in all eligible patients by approx. 3.4 million PLN in 2023 and 2024 and a reduction in diagnostic costs per patient by 1 695 (21%) PLN. This article presents the efficacy and safety of amivantamab in NSCLC patients with an insertion in exon 20 of the EGFR gene. In conclusion, NGS should be the preferred diagnostic method in patients with advanced NSCLC.

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