Materials and methods

This was a single-centre, retrospective cohort study conducted over one year, from January 1, 2021, to June 30, 2022. A total of 93 patients with advanced metastatic solid tumours were included in the study. The study included adult patients with advanced or metastatic solid tumours who underwent next-generation sequencing (NGS) either on archived tumour tissue blocks or via liquid biopsy.

Patients known to harbour genetic alterations for which standardised, guideline-recommended targeted therapies already exist were excluded. This included, but was not limited to, EGFR exon 18, 19, and 21 mutations in non-small cell lung cancer; HER2 amplification and PIK3CA mutations in breast cancer; BRAF mutations in melanoma and lung cancer; KRAS mutations in colorectal cancer; and KIT mutations in gastrointestinal stromal tumours.

NGS was performed using a commercially available 560-gene panel (Illumina platform) with 1000X coverage. The assay was capable of detecting various types of genomic alterations, including single-nucleotide variants, insertions, deletions, fusions, amplifications, rearrangements, and frameshift mutations. The generated reports identified actionable mutations and suggested potential targeted therapies, including both approved drugs and those available through clinical trials.

The primary endpoint was to assess the clinical utility of NGS by determining the proportion of patients who received genome-directed therapy based on actionable mutations identified. The secondary endpoint was to evaluate clinical benefit, as measured by progression-free survival (PFS) in patients receiving NGS-guided therapy. All statistical analyses were performed using Microsoft Excel 2016.