Integration of NGS testing with conventional molecular genetic methods in oncology

Next-generation sequencing (NGS) is increasingly used in laboratory diagnostics of solid tumors. The use of NGS allows for the detection of virtually all clinically significant molecular changes identifiable by standard molecular genetic investigation (MGI) methods. Data obtained through NGS on the prevalence of molecular genetic alterations necessitates updating existing MGI tests and their application for different patient groups. In some cases, nucleotide sequence variants detected by NGS tests must be vali-dated by standard MGI methods. A patient’s mutational profile obtained through NGS can be used to develop individualized PCR-based test systems for monitoring minimal residual disease. The integration of NGS testing with standard MGI methods is a press-ing task in modern laboratory diagnostics of oncological diseases. This article provides an overview of the most important exam-ples of such integration. © 2024, Media Sphera Publishing Group. All rights reserved.