Personalized medicine: the role of sequencing technologies in diagnostics, prediction and selection of treatment of monogenous and multifactorial diseases

Oleg Glotov; Alexandr Chernov; Michael Fedyakov; Valentina Larionova; Andrey Zaretsky; Maxim Donnikov; Andrey Glotov

doi:10.21638/spbu03.2022.403

Authors

Oleg Glotov Department of Experimental Medical Virology, Molecular Genetics and Biobanking, Pediatric Research and Clinical Center for Infectious Diseases, ul. Professora Popova, 9, Saint Petersburg, 197022, Russian Federation; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleyevskaya liniya, 3, Saint Petersburg, 199034, Russian Federation https://orcid.org/0000-0002-0091-2224
Alexandr Chernov Federal State Budgetary Scientific Institution “Institute of Experimental Medicine”, ul. Akademika Pavlova, 12, Saint Petersburg, 197376, Russian Federation; Bioenergetics Department of Life Sciences, Ben-Gurion University, Beer Sheva, 84105, Israel https://orcid.org/0000-0003-2464-7370
Michael Fedyakov Genetics Laboratory, City Hospital No. 40, ul. Borisova, 9, Saint Petersburg, 197706, Russian Federation https://orcid.org/0000-0002-3291-3811
Valentina Larionova Federal State Budgetary Scientific Institution “Institute of Experimental Medicine”, ul. Akademika Pavlova, 12, Saint Petersburg, 197376, Russian Federation; North Western State Medical University named after I.I. Mechnikov, ul. Kirochnaya, 41, Saint Petersburg, 191015, Russian Federation https://orcid.org/0000-0002-3128-8102
Andrey Zaretsky Department of Molecular Technologies, Research Institute of Translational Medicine, Pirogov Russian National Research Medical University, ul. Ostrovityanova, 1, Moscow, 117997, Russian Federation https://orcid.org/0000-0002-7778-6617
Maxim Donnikov Medical Institute, Surgut State University, ul. Energetikov, 22, Surgut, 628412, Russian Federation https://orcid.org/0000-0003-0120-4163
Andrey Glotov Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleyevskaya liniya, 3, Saint Petersburg, 199034, Russian Federation; Laboratory of Biobanking and Genomic Medicine, Institute of Translation Biomedicine, Saint Petersburg State University, Universitetskaya nab., 7–9, Saint Petersburg, 199034, Russian Federation https://orcid.org/0000-0002-7465-4504

DOI:

https://doi.org/10.21638/spbu03.2022.403

Abstract

The review highlights various methods for deciphering the nucleotide sequence (sequencing) of nucleic acids and their importance for the implementation of the three main principles of personalized medicine: prevention, predictability and personalization. The review, along with its own practical examples, considers three generations of sequencing technologies: 1) sequencing of cloned or amplified DNA fragments according to Sanger and its analogues; 2) massive parallel sequencing of DNA libraries with short reads (NGS); and 3) sequencing of single molecules of DNA and RNA with long reads. The methods of whole genome, whole exome, targeted, RNA sequencing and sequencing based on chromatin immunoprecipitation are also discussed. The advantages and limitations of the above methods for diagnosing monogenic and oncological diseases, as well as for identifying risk factors and predicting the course of socially significant multifactorial diseases are discussed. Using examples from clinical practice, algorithms for the application and selection of sequencing technologies are demonstrated. As a result of the use of sequencing technologies, it has now become possible to determine the molecular mechanism of the development of monogenic, orphan and multifactorial diseases, the knowledge of which is necessary for personalized patient therapy. In science, these technologies paved the way for international genome projects — the Human Genome Project, the HapMap, 1000 Genomes Project, the Personalized Genome Project, etc.

Keywords:

sequencing technologies, whole genome sequencing, whole exome sequencing, advantages, limitations, personalized medicine, human genomic projects, diagnostics, disease prediction, personalized therapy

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References

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