25 years after the completion of The Human Genome Project – advances, challenges and prospects of genomics

DOI: https://doi.org/10.7124/FEEO.v38.1802
Keywords: human genome, post-genomic era, genetic variability, epigenetics, precision medicine, pharmacogenomics

Abstract

Aim. Analysis of the human genome has opened a new era of biomedical research, where the integration of molecular and technological approaches determines the development of healthcare. The aim of this study is to summarize modern advances in genomics 25 years after the completion of the Human Genome Project and to identify key scientific and clinical directions of the postgenomic era. Methods. An analytical review of literature sources, results of genomic, epigenomic and bioinformatic studies, as well as data on their clinical implementation was performed. Results. A transition from descriptive genome research to functional and applied genomics after initial sequencing was demonstrated. The important role of non-coding genomic regions in gene expression regulation, chromatin organization and genetic variability formation was established. The significance of single nucleotide polymorphisms, structural variations and polygenic risk scores in the development of monogenic and multifactorial diseases was characterized. The contribution of pharmacogenomics, tumor genomic profiling, epigenetic mechanisms and genome editing technologies to the development of personalized medicine was highlighted. Special attention was paid to ethical aspects of genetic information use, including privacy and accessibility of genomic technologies. Conclusions. Genomics has transformed from a fundamental discipline into a practical tool of clinical medicine, forming the basis for precision, preventive and predictive medicine.

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