Abstract
Background. Molecular genetic tests play an important role in the care of patients with cancer. Prescribing a number of precision medicines requires concomitant diagnostic testing. Clinical guidelines accelerate implementation of approved clinical interventions, including molecular genetic testing.
Aims — to analyze and compare recommendations for ordering molecular genetic testing in non-small cell lung cancer (NSCLC) between Russian and foreign guidelines.
Methods. The study included guidelines published in the Rubricator of Clinical Guidelines of the Ministry of Health of Russia, the European Society of Medical Oncology, the American Society of Clinical Oncology and the National Network of Multidisciplinary Oncological Institutions. Recommendations for genetic testing to identify sensitizing mutations in genes in NSCLC and information on study methods were extracted from the selected guidelines.
Results. This resulted in a list of genes recommended for testing in NSCLC: EGFR, BRAF, ALK, ROS1, NTRK, ERBB2, MET, RET, KRAS. The list of genes recommended for testing was the same in all included guidelines, except the Rubricator guideline. Recommendations for assigning tests to identify gene variants within guidelines for the same association tended to have the same level of evidence. However, for some genes, the level of evidence differed between associations. We found that not all guidelines describe research methods. An analysis of the recommended testing methods has shown that a significant proportion of studies are recommended to be conducted using next-generation sequencing, including using genetic panels.
Conclusions. The results of the analysis show the differences between foreign and Russian guidelines in the approaches to prescribing molecular genetic testing and methods of performing it. Currently, EGFR, BRAF, ALK, ROS1, ERBB2, MET, RET are the main genes recommended for testing, and studies are usually performed in metastatic NSCLC. A significant proportion of studies are recommended to use NGS, including the use of genetic panels.