Lekárska genetika a diagnostika 2/2024

Contemporary approaches to genetic diagnostics in clinical oncology

Genetics in clinical oncology is bringing revolutionary changes to the diagnosis, treatment, and prevention of oncological diseases. Advances in diagnostics and technology provide new opportunities for personalized medicine, which improves treatment outcomes and patients‘ quality of life. Genetic testing provides patients and their families with information about cancer risk. Based on the results of analyses of dozens to hundreds of genes, a geneticist, together with a multidisciplinary team, proposes appropriate preventive or therapeutic strategies for the patient as well as at-risk asymptomatic relatives. Genetic biomarkers, such as BRCA1 and BRCA2 mutations, or homologous recombination deficiency (HRD) status, can predict the response to certain treatments, such as PARP inhibitors. Genetic testing and targeted therapy based on the genetic profile of the tumor are fundamental pillars of modern oncological care. Targeted therapeutic agents can be used based on the tumor‘s genetic profile, which specifically inhibit molecular pathways affected by genetic mutations. For example, mutations in the genes EGFR, ALK, ROS1, BRAF, MET, HER2, RET, and NTRK1/NTRK2/NTRK3 are targets of specific inhibitors that have proven effective in treating many solid tumors. The genetic profile of the tumor can also influence the response to immunotherapy.

Keywords: hereditary cancer, genetic diagnostics, biomarker, massive parallel sequencing, comprehensive genomic profiling