ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМП10.25789/YMJ.2026.93.19ymj-3201Research ArticleНАУЧНЫЕ ОБЗОРЫSCIENTIFIC REVIEWSГенетические диагностические технологии в современной медицине: от классических молекулярно-генетических методов к высокопроизводительным платформам анализа геномаGenetic diagnostic technologies in modern medicine: from classical molecular genetic methods to high-performance genome analysis platformshttps://orcid.org/0009-0005-3150-9664БатчаевА. С.-У.BatchaevA. S.-U.

Батчаев Аслан Сеит-Умарович ‒ канд. мед. наук, доцент, и.о. зав. кафедрой «Педиатрия»,

ул. Ставропольская, г. Черкесск, 36369000

batchaev2025@bk.ruhttps://orcid.org/0009-0003-2403-8177ЭлекуеваД. М.ElekuyevaD. M.

Элекуева Диана Муратовна - студент,

ул. Толстого 175 Б, г. Нальчик, 360051

https://orcid.org/0009-0001-9455-9205ХасауовБ. А.KhasauovB. A.

Хасауов Бийаслан Алимович – студент,

ул. Толстого 175 Б, г. Нальчик, 360051

ФГБОУ ВО «Северо-Кавказская государственная академия»Russian FederationФГБОУ ВО «Кабардино-Балкарский государственный университет им. Х.М. Бербекова», Институт стоматологии и челюстно-лицевой хирургииRussian Federation202628032026019094Copyright © Батчаев А.С., Элекуева Д.М., Хасауов Б.А., 20262026Батчаев А.С., Элекуева Д.М., Хасауов Б.А.Batchaev A.S., Elekuyeva D.M., Khasauov B.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/3201

В обзоре рассматривается развитие генетических диагностических технологий ‒ от классических молекулярных методов до современных высокопроизводительных платформ, включающих NGS, микрочиповые технологии и ИИ-ориентированные алгоритмы анализа. Особое внимание уделяется возможностям современных подходов в раннем выявлении наследственных и мультифакторных заболеваний, а также оценке их ограничений и перспектив дальнейшего внедрения в клиническую практику. Представленные данные обобщают ключевые тенденции в эволюции генетических методов и демонстрируют значимость цифровизации, биоинформатики и машинного обучения для повышения точности и стандартизации геномной диагностики. Материал будет полезен специалистам в области молекулярной медицины, клиническим генетикам, биоинформатикам и исследователям, работающим над развитием персонализированных технологий здравоохранения. Обзор подчеркивает важность комплексного подхода к оценке диагностического потенциала современных генетических методов и их роли в формировании будущих стандартов медицинской помощи.

The review examines the development of genetic diagnostic technologies, from classical molecular methods to modern high-performance platforms, including NGS, microchip technologies, and AI-based analysis algorithms. Special attention is paid to the possibilities of modern approaches in the early detection of hereditary and multifactorial diseases, as well as an assessment of their limitations and prospects for further implementation in clinical practice. The presented data summarize key trends in the evolution of genetic methods and demonstrate the importance of digitalization, bioinformatics, and machine learning for improving the accuracy and standardization of genomic diagnostics. The material will be useful to specialists in the field of molecular medicine, clinical geneticists, bioinformatics and researchers working on the development of personalized healthcare technologies. The review highlights the importance of an integrated approach to assessing the diagnostic potential of modern genetic methods and their role in shaping future standards of medical care.

генетическая диагностикасеквенирование нового поколения (NGS)высокопроизводительные платформыбиоинформатикаискусственный интеллектмолекулярные методыперсонализированная медицинаgenetic diagnosticsnew generation sequencing (NGS)high-performance platformsbioinformaticsartificial intelligencemolecular methodspersonalized medicineReferencesВолков А.Н., Начева Л.В. Молекулярно-генетические методы в практике современных медико-биологических исследований. Часть III: генодиагностика человека при решении медицинских задач. Фундаментальная и клиническая медицина. 2021;6(3):100-109.Volkov A.N., Nacheva L.V. Molecular genetic methods in modern biomedical research practice. Part III: human genodiagnostics in solving medical problems. Fundamental and Clinical Medicine. 2021;6(3):100-109 (In Russian).Павлов К.А., Шкопоров А.Н., Хохлова Е.В. и др. Разработка диагностической тестсистемы для ранней неинвазивной диагностики рака простаты, основанной на количественной детекции мРНК гена PCA3 в осадке мочи методом ОТ-ПЦР в режиме реального времени. Вестник РАМН. 2013;5:45-51.Pavlov K.A., Shkoporov A.N., Khokhlova E.V., et al. Development of a diagnostic test system for early non-invasive detection of prostate cancer based on quantitative detection of PCA3 mRNA in urine sediment by real-time RT-PCR. Bulletin of the Russian Academy of Medical Sciences. 2013;5:45-51 (In Russian).Аксельрод Э.В., Миронов К.О., Михайленко Д.С., и др. Разработка и апробация методики на основе мультиплексной ПЦР в режиме реального времени для определения клинически значимых микроделеций в Y-хромосоме. Клиническая лабораторная диагностика. 2018;63(2):124-128.Akselrod E.V., Mironov K.O., Mikhailenko D.S., et al. Development and validation of a real-time multiplex PCR method for detection of clinically significant Y-chromosome microdeletions. Clinical Laboratory Diagnostics. 2018;63(2):124-128 (In Russian).Durmaz A.A., Karaca E., Demkow U., et al. Evolution of genetic techniques: past, present, and beyond. BioMed Research International. 2015;2015:461524.Durmaz A.A., Karaca E., Demkow U., et al. Evolution of genetic techniques: past, present, and beyond. BioMed Research International. 2015;2015:461524.Genetic disorders // Genome.gov. 2024. URL: https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders 6. Stoyanova M., Yahya D., Hachmeriyan M., Levkova M. Diagnostic yield of next-generation sequencing for rare pediatric genetic disorders: a single-center experience. Medical Sciences (Basel). 2025;13(2):75.Genetic disorders // Genome.gov. 2024. URL: https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders 6. Stoyanova M., Yahya D., Hachmeriyan M., Levkova M. Diagnostic yield of next-generation sequencing for rare pediatric genetic disorders: a single-center experience. Medical Sciences (Basel). 2025;13(2):75.Ng H.Y., Ma W., Lam W.K., et al. Identification of technically challenging variants: whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases. Human Genetics and Genomics Advances. 2025;6:100469.Ng H.Y., Ma W., Lam W.K., et al. Identification of technically challenging variants: whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases. Human Genetics and Genomics Advances. 2025;6:100469.Fink J., Jaradi B., Stone N., et al. Validation and performance of quantitative BRCA1 and RAD51C promoter hypermethylation testing in breast and ovarian cancers. The Journal of Molecular Diagnostics. 2024;27. doi:10.1016/j.jmoldx.2024.11.004.Fink J., Jaradi B., Stone N., et al. Validation and performance of quantitative BRCA1 and RAD51C promoter hypermethylation testing in breast and ovarian cancers. The Journal of Molecular Diagnostics. 2024;27. doi:10.1016/j.jmoldx.2024.11.004.Wilcox E.H., Webb R.F., Tshering K.C., et al. Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels. Genetics in Medicine Open. 2025;3:103430.Wilcox E.H., Webb R.F., Tshering K.C., et al. Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels. Genetics in Medicine Open. 2025;3:103430.Schmidt A., Danyel M., Grundmann K., et al. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature Genetics. 2024;56(8):1644-1653. doi:10.1038/s41588-024-01836-1.Schmidt A., Danyel M., Grundmann K., et al. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature Genetics. 2024;56(8):1644-1653. doi:10.1038/s41588-024-01836-1.Wright C., FitzPatrick D., Firth H., et al. Limitations and challenges of genomic sequencing in clinical practice: a global perspective. Nature Reviews Genetics. 2023.Wright C., FitzPatrick D., Firth H., et al. Limitations and challenges of genomic sequencing in clinical practice: a global perspective. Nature Reviews Genetics. 2023.Wu H., Li X., Li H. Gene fusions and chimeric RNAs, and their implications in cancer // Genes & Diseases. 2019;6(4):385-390.Wu H., Li X., Li H. Gene fusions and chimeric RNAs, and their implications in cancer // Genes & Diseases. 2019;6(4):385-390.Bouttell J., Heggie R., Oien K., et al. Economic evaluation of genomic/genetic tests: a review and future directions. International Journal of Technology Assessment in Health Care. 2022;38(1):e67.Bouttell J., Heggie R., Oien K., et al. Economic evaluation of genomic/genetic tests: a review and future directions. International Journal of Technology Assessment in Health Care. 2022;38(1):e67.Husereau D., Bombard Y., Stockley T., et al. Future role of health technology assessment for genomic medicine in oncology: a Canadian laboratory perspective. Current Oncology. 2023;30(11):9660-9669.Husereau D., Bombard Y., Stockley T., et al. Future role of health technology assessment for genomic medicine in oncology: a Canadian laboratory perspective. Current Oncology. 2023;30(11):9660-9669.Behera S., Catreux S., Rossi M., et al. Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms. bioRxiv. 2024. doi:10.1101/2024.01.02.573821.Behera S., Catreux S., Rossi M., et al. Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms. bioRxiv. 2024. doi:10.1101/2024.01.02.573821.Samarakoon P.S., Fournous G., Hansen L.T., et al. Benchmarking accelerated next-generation sequencing analysis pipelines. Bioinformatics Advances. 2025;5(1):vbaf085.Samarakoon P.S., Fournous G., Hansen L.T., et al. Benchmarking accelerated next-generation sequencing analysis pipelines. Bioinformatics Advances. 2025;5(1):vbaf085.Gillani R., Collins R.L., Crowdis J., et al. Rare germline structural variants increase risk for pediatric solid tumors. Science. 2025;387(6729):eadq0071.Gillani R., Collins R.L., Crowdis J., et al. Rare germline structural variants increase risk for pediatric solid tumors. Science. 2025;387(6729):eadq0071.Zhou J., Troyanskaya O.G., Schreiber J., et al. Predicting effects of noncoding variants with deep learning-based sequence model. Nature Methods. 2015;12(10):931-934.Zhou J., Troyanskaya O.G., Schreiber J., et al. Predicting effects of noncoding variants with deep learning-based sequence model. Nature Methods. 2015;12(10):931-934.Xi A.M.C., Yeung D.L.H., Ma W., et al. Clinical and data-driven optimization of Genomiser for rare disease patients: experience from the Hong Kong Genome Project. Briefings in Bioinformatics. 2025;26(5):bbaf475.Xi A.M.C., Yeung D.L.H., Ma W., et al. Clinical and data-driven optimization of Genomiser for rare disease patients: experience from the Hong Kong Genome Project. Briefings in Bioinformatics. 2025;26(5):bbaf475.Yuan X., Su J., Wang J., et al. Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases. Scientific Reports. 2024;14(1):2845.Yuan X., Su J., Wang J., et al. Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases. Scientific Reports. 2024;14(1):2845.Garcia M., Juhos S., Larsson M., et al. Sarek: a portable workflow for whole-genome sequencing analysis of germline and somatic variants. F1000Research. 2020;9:63.Garcia M., Juhos S., Larsson M., et al. Sarek: a portable workflow for whole-genome sequencing analysis of germline and somatic variants. F1000Research. 2020;9:63.Yun T., Li H., Chang P.C., et al. Accurate, scalable cohort variant calls using DeepVariant and GLnexus. Bioinformatics. 2021;36(24):5582- 5589.Yun T., Li H., Chang P.C., et al. Accurate, scalable cohort variant calls using DeepVariant and GLnexus. Bioinformatics. 2021;36(24):5582- 5589.Li R., Li Y., Fang X., et al. Machine learning meets OMICS: applications and perspectives. Briefings in Bioinformatics. 2021;23(1):bbab460.Li R., Li Y., Fang X., et al. Machine learning meets OMICS: applications and perspectives. Briefings in Bioinformatics. 2021;23(1):bbab460.Kircher M., Witten D.M., Jain P., et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nature Genetics. 2014;46(3):310-315.Kircher M., Witten D.M., Jain P., et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nature Genetics. 2014;46(3):310-315.Михайленко Д.С., Соболь И.Ю., Ефремов Е.А., и др. Генетически обусловленные формы бесплодия у мужчин: основные характеристики и практические аспекты лабораторной диагностики. Экспериментальная и клиническая урология. 2020;1:96-104.Mikhailenko D.S., Sobol I.Yu., Efremov E.A., et al. Genetically determined forms of male infertility: main characteristics and practical aspects of laboratory diagnostics. Experimental and Clinical Urology. 2020;1:96-104 (In Russian).Mannarapu M., Dariya B., Bandapalli O.R. Application of single-cell sequencing technologies in pancreatic cancer. Molecular and Cellular Biochemistry. 2021;476(6):2429-2437.Mannarapu M., Dariya B., Bandapalli O.R. Application of single-cell sequencing technologies in pancreatic cancer. Molecular and Cellular Biochemistry. 2021;476(6):2429-2437.Turro E., Astle W.J., Megy K., et al. Whole-genome sequencing of patients with rare diseases in a national health system. Nature. 2020;583(7814):96-102. doi:10.1038/s41586-020-2434-2.Turro E., Astle W.J., Megy K., et al. Whole-genome sequencing of patients with rare diseases in a national health system. Nature. 2020;583(7814):96-102. doi:10.1038/s41586-020-2434-2.Tirrò E., Massimino M., Broggi G., et al. A custom DNA-based NGS panel for the molecular characterization of patients with diffuse gliomas: diagnostic and therapeutic applications. Frontiers in Oncology. 2022;12:861078.Tirrò E., Massimino M., Broggi G., et al. A custom DNA-based NGS panel for the molecular characterization of patients with diffuse gliomas: diagnostic and therapeutic applications. Frontiers in Oncology. 2022;12:861078.Varn F.S., Johnson K.C., Martinek J., et al. Glioma progression is shaped by genetic evolution and microenvironment interactions. Cell. 2022;185(12):2184-2199.e16.Varn F.S., Johnson K.C., Martinek J., et al. Glioma progression is shaped by genetic evolution and microenvironment interactions. Cell. 2022;185(12):2184-2199.e16.Li L., Xiong F., Wang Y., et al. What are the applications of single-cell RNA sequencing in cancer research: a systematic review. Journal of Experimental & Clinical Cancer Research. 2021;40(1):163.Li L., Xiong F., Wang Y., et al. What are the applications of single-cell RNA sequencing in cancer research: a systematic review. Journal of Experimental & Clinical Cancer Research. 2021;40(1):163.Govindarajan M., Wohlmuth C., Waas M., et al. High-throughput approaches for precision medicine in high-grade serous ovarian cancer. Journal of Hematology & Oncology. 2020;13(1):134.Govindarajan M., Wohlmuth C., Waas M., et al. High-throughput approaches for precision medicine in high-grade serous ovarian cancer. Journal of Hematology & Oncology. 2020;13(1):134.Evrony G.D., Hinch A.G., Luo C. Applications of single-cell DNA sequencing. Annual Review of Genomics and Human Genetics. 2021;22:171-197.Evrony G.D., Hinch A.G., Luo C. Applications of single-cell DNA sequencing. Annual Review of Genomics and Human Genetics. 2021;22:171-197.Hays D.G., McKibben W.B. Promoting rigorous research: generalizability and qualitative research. Journal of Counseling & Development. 2021;99(2):178-188.Hays D.G., McKibben W.B. Promoting rigorous research: generalizability and qualitative research. Journal of Counseling & Development. 2021;99(2):178-188.Zhou J., Park C.Y., Ching T., et al. Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk. Nature Genetics. 2018;50(8):1171-1179.Zhou J., Park C.Y., Ching T., et al. Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk. Nature Genetics. 2018;50(8):1171-1179.Fu Z., Zhang Q., Zhou L., et al. A deep learning model embedded framework to distinguish DNA and RNA mutations directly from RNASeq. bioRxiv. 2023:1-20.Fu Z., Zhang Q., Zhou L., et al. A deep learning model embedded framework to distinguish DNA and RNA mutations directly from RNASeq. bioRxiv. 2023:1-20.Cooperstein I.B., Marwaha S., Ward A., et al. An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser. Genome Medicine. 2025;17(1):127.Cooperstein I.B., Marwaha S., Ward A., et al. An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser. Genome Medicine. 2025;17(1):127.Bombard Y., Hayeems R., Cohn I., et al. The clinical utility of genomic testing: a scoping review and future directions. Genetics in Medicine. 2022.Bombard Y., Hayeems R., Cohn I., et al. The clinical utility of genomic testing: a scoping review and future directions. Genetics in Medicine. 2022.Gazina N.I.G., Elvin S.T., Larisa I.Z. International legal framework for the application of genetic technologies: main features and issues open for discussion. Kutafin Law Review. 2022;9(1):39-73.Gazina N.I.G., Elvin S.T., Larisa I.Z. International legal framework for the application of genetic technologies: main features and issues open for discussion. Kutafin Law Review. 2022;9(1):39-73.Brothers K.B., Cooper G.M., McNamara K.C., et al. Moving to the middle ground: redefining genomic utility to expand understanding of familial benefit. Ethics & Human Research. 2024;46(1):43-48.Brothers K.B., Cooper G.M., McNamara K.C., et al. Moving to the middle ground: redefining genomic utility to expand understanding of familial benefit. Ethics & Human Research. 2024;46(1):43-48.Otto I., Kahrass H., Mertz M. Same same but different? On the questionable but crucial differentiation between ethical and social aspects in health technology assessment. Zeitschrift für Evidenz, Fortbildung und Qualität im Gesundheitswesen. 2021;164:1-10. 41. Appelbaum P.S., Burke W., Parens E., et al. Is there a way to reduce the inequity in variant interpretation on the basis of ancestry? American Journal of Human Genetics. 2022;109(6):981-988.Otto I., Kahrass H., Mertz M. Same same but different? On the questionable but crucial differentiation between ethical and social aspects in health technology assessment. Zeitschrift für Evidenz, Fortbildung und Qualität im Gesundheitswesen. 2021;164:1-10. 41. Appelbaum P.S., Burke W., Parens E., et al. Is there a way to reduce the inequity in variant interpretation on the basis of ancestry? American Journal of Human Genetics. 2022;109(6):981-988.

The authors declare that there are no conflicts of interest present.