Molecular profiling of solid tumors by next generation sequencing and challenges faced in the healthcare setting

The paradigm of molecular diagnostics has long been shifted to multi-gene panel testing from standard single-gene testing. Despite the known utilities and advantages identified in comprehensive genomic profiling, there remains challenges to implement panel testing in healthcare setting. Forty-two advanced stage solid tumor cases were enrolled and examined with next-generation sequencing (NGS). All the patients had at least one variant detected and 31 out of 42 patients (31/42, 73.8% of cohort) harboured at least 1 clinically significant variant (tier I and tier II). Tumor mutational burden (TMB) was computed using the NGS data. Majority of the cases had intermediate TMB. The presentation of data emphasized the importance of providing upfront panel testing for effective treatment plan. However, the lack of harmonization in the results reporting in electronic medical record system, and the lack of national healthcare funding to support testing cost and therapeutic drugs are the main barrier to progress.