Lekárska genetika a diagnostika 1/2025
Whole-genome sequencing in oncology – from clinical trials to routine diagnostic use
Genomic alterations in cancer are highly complex and significantly impact the response to targeted therapy. Comprehensive profiling of cancer genomes using whole-genome sequencing (WGS) has become an essential part of several clinical studies, highlighting its added value and potential in routine diagnostic testing. With the decreasing costs of WGS and its ability to analyze variants of all types in a single assay, a seamless transition from clinical trials to routine diagnostic practice can be anticipated. Integrating WGS into standard clinical cancer care will be a challenging process with multiple obstacles. Nevertheless, fully harnessing the potential of genomic medicine in oncology through advanced diagnostics promises significant progress in the diagnosis, prognosis and treatment of cancer patients.
Keywords: tumorigenesis, clinical trials, whole genome sequencing, transcriptomics
