Clinical implementation of next-generation sequencing testing and genomically-matched therapy: a real-world data in a tertiary hospital

Next-generation sequencing (NGS) cancer profiling has gained traction in routine clinical practice in South Korea. Here, we evaluated the use of NGS testing and genomically-matched therapies for patients with advanced solid tumors in a real-world clinical practice. We analyzed results from NGS cancer panel tests (SNUBH pan-cancer version 2) ordered from June 2019 to June 2020. Genomically-matched treatment was determined based on the novel information obtained from NGS testing, while results from conventional molecular tests were excluded. A total of 990 patients were included in the analysis (median age: 62, Stage IV: 82.5%). Using the Association for Molecular Pathology genetic variant classification system, we found that 257 (26.0%) patients harbored tier I variants, and 859 (86.8%) patients carried tier II variants. Among the tier I cases, the most frequently altered genes we detected were KRAS (106 patients, 10.7%), followed by EGFR (27 patients, 2.7%) and BRAF (17 patients, 1.7%). Of patients with tier I variants, 13.7% received NGS-based therapy as follows: Thyroid cancer (2/7, 28.6%), skin cancer (2/8, 25.0%), gynecologic cancer (7/65, 10.8%), and lung cancer (12/112, 10.7%). Of 32 patients with measurable lesions who received NGS-based therapy, 12 (37.5%) achieved a partial response, and 11 (34.4%) achieved stable disease. The median treatment duration was 6.4 months (95% CI, 4.4-8.4), and the median OS was not reached. In conclusion, NGS tumor profiling was successfully implemented in real-world clinical practice. This enabled the use of molecular profiling-guided therapy which improved survival outcome of selected patients.