GENETIC DIAGNOSTIC TECHNOLOGIES IN MODERN MEDICINE: FROM MOLECULAR METHODS TO HIGH-THROUGHPUT PLATFORMS

Abstract

This review examines the development of genetic diagnostic technologies, from classical molecular methods to modern high-throughput platforms, including next-generation sequencing (NGS), microarray technologies and artificial-intelligence-based analytical algorithms. Particular attention is paid to the role of these approaches in the early detection of hereditary and multifactorial diseases, as well as to their limitations and prospects for further implementation in clinical practice. The review summarizes key trends in the evolution of genetic methods and shows the importance of digitalization, bioinformatics and machine learning for improving the accuracy, reproducibility and standardization of genomic diagnostics. The material may be useful for specialists in molecular medicine, clinical geneticists, bioinformaticians and researchers developing personalized healthcare technologies. The review also emphasizes the need for an integrated approach to assessing the diagnostic potential of modern genetic methods and their role in shaping future standards of medical care.