epilepsiaEpilepsy and paroxysmal conditionsЭпилепсия и пароксизмальные состояния2077-83332311-4088IRBIS LLC10.17749/2077-8333/epi.par.con.2023.127epilepsia-878Research ArticleSCIENTIFIC SURVEYSНАУЧНЫЕ ОБЗОРЫOpportunities and achievements of using massive parallel sequencing in the diagnosis of neurodevelopmental diseasesВозможности и достижения использования массового параллельного секвенирования в диагностике наследственных заболеваний с поражением нервной системыhttps://orcid.org/0000-0001-9101-5213КожановаТ. В.KozhanovaT. V.

Кожанова Татьяна Викторовна – к.м.н., доцент кафедры неврологии, нейрохирургии и медицинской генетики педиатрического факультета; врач лабораторный генетик, ведущий научный сотрудник генетической группы научного отдела

ул. Островитянова, д. 1, Москва 117997

ул. Авиаторов, д. 38, Москва 119620

Tatiana V. Kozhanova – MD, PhD, Associate Professor, Chair of Neurology, Neurosurgery and Medical Genetics, Pediatric Faculty; Leading Researcher, Genetic Group of the Scientific Department, Laboratory Geneticist

1 Ostrovityanov Str., Moscow 117997

38 Aviators Str., Moscow 119620

vkozhanov@bk.ruФедеральное государственное автономное образовательное учреждение высшего образования «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Министерства здравоохранения Российской Федерации; Государственное бюджетное учреждение здравоохранения г. Москвы «Научно-практический центр специализированной медицинской помощи детям им. В.Ф. Войно-Ясенецкого» Департамента здравоохранения г. МосквыРоссияPirogov Russian National Research Medical University; Voino-Yasenetsky Scientific and Practical Center of Specialized Medical Care for ChildrenRussian Federation2023290320231514452Copyright © Kozhanova T.V., 20232023Кожанова Т.В.Kozhanova T.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.epilepsia.su/jour/article/view/878

The contribution of genetic factors to development of neurological diseases has long been recognized, and the majority of the advances coupled to using molecular genetic technologies resulted in identifying genes associated with the pathology of developing nervous system. The review is aimed at demonstrating opportunities and achievements of using massive parallel sequencing technology in the diagnosis of a disease with damage to nervous system. Currently, next-generation sequencing (NGS) technology in the genetic diagnosis of epilepsy relies on targeted gene panels, whole exome sequencing or whole genome sequencing. Integrating genetic and genomic analysis into clinical practice to establish clear molecular diagnoses for previously undiagnosed patients will avoid further unnecessary diagnosis and therefore lead to greater healthcare cost savings over time. The use of biomarkers will contribute to the prediction of disease outcome and therapy decision-making.

Вклад генетических факторов в развитие неврологических заболеваний известен давно, и большинство достижений при использовании молекулярно-генетических технологий заключалось в выявлении генов, связанных с патологией развития нервной системы. Цель настоящего обзора – показать возможности и достижения использования метода массового параллельного секвенирования в диагностике заболевания с поражением нервной системы. В настоящее время технология секвенирования нового поколения (англ. next generation sequencing, NGS) в генетической диагностике эпилепсии включает использование целевых генных панелей, секвенирование всего экзома или генома. Интеграция генетического и геномного анализа в клиническую практику для установления четких молекулярных диагнозов для ранее не диагностированных пациентов позволит избежать дальнейшей ненужной диагностики, а следовательно, приведет к большей экономии расходов на здравоохранение с течением времени. Применение биомаркеров будет способствовать прогнозированию исхода болезни и принятию решения о терапии.

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