medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-1812Research ArticleНАУЧНЫЕ ОБЗОРЫREVIEWЦелесообразность применения экзомного секвенирования для диагностики наследственных заболеванийThe utility of exome sequencing in diagnosis of hereditary diseasesОкуневаЕ. Г.OkunevaE. G.noemail@neicon.ruКозинаА. А.KozinaA. A.noemail@neicon.ruБарышниковаН. В.BaryshnikovaN. V.noemail@neicon.ruКрасненкоА. Ю.KrasnenkoA. Yu.noemail@neicon.ruКлимчукО. И.KlimchukO. I.noemail@neicon.ruСтеценкоИ. Ф.StetsenkoI. F.noemail@neicon.ruПлотниковН. А.PlotnikovN. A.noemail@neicon.ruСурковаЕ. И.SurkovaE. I.esurkova@genotek.ruИльинскийВ. В.IlinskyV. V.noemail@neicon.ruООО ГенотекРоссияGenotek LtdRussian FederationРоссийский национальный исследовательский медицинский университет имени Н.И. Пирогова; Институт биомедицинской химииРоссияPirogov Russian National Research Medical University; Institute of Biomedical ChemistryRussian FederationООО Генотек; Российский национальный исследовательский медицинский университет имени Н.И. ПироговаРоссияGenotek Ltd; Pirogov Russian National Research Medical UniversityRussian Federation20200202202119121824Copyright © Окунева Е.Г., Козина А.А., Барышникова Н.В., Красненко А.Ю., Климчук О.И., Стеценко И.Ф., Плотников Н.А., Суркова Е.И., Ильинский В.В., 20212021Окунева Е.Г., Козина А.А., Барышникова Н.В., Красненко А.Ю., Климчук О.И., Стеценко И.Ф., Плотников Н.А., Суркова Е.И., Ильинский В.В.Okuneva E.G., Kozina A.A., Baryshnikova N.V., Krasnenko A.Y., Klimchuk O.I., Stetsenko I.F., Plotnikov N.A., Surkova E.I., Ilinsky V.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.medgen-journal.ru/jour/article/view/1812

Выявление генетической причины наследственного заболевания является необходимым этапом дифференциальной диагностики, играет важную роль при оценке генетического риска, а в ряде случаев также помогает определить метод и тактику лечения. Выбор метода молекулярно-генетического тестирования может представлять большую трудность в связи наличием целого ряда преимуществ и ограничений у каждого из подходов. Методы различаются по диагностической эффективности, времени и стоимости исследования, причем эти показатели могут значительно отличаться при диагностике разных групп генетических заболеваний. Использование неподходящего метода может существенно увеличить время и стоимость диагностики. В последнее время всё больше данных указывает на высокую эффективность одного из подходов секвенирования нового поколения (next generation sequencing, NGS) - экзомного секвенирования для выявления генетической причины некоторых групп наследственных заболеваний. Экзомное секвенирование позволяет получить информацию об изменениях в кодирующих белки областях генов - экзонах. Проведение трио экзомного секвенирования в семьях дополнительно увеличивает эффективность такого анализа. В статье приведено обоснование случаев клинической и финансовой целесообразности назначения экзомного секвенирования. К таким случаям относятся: редкие генетические заболевания, генетически гетерогенные заболевания у детей 0-3 лет, недавно установленная связь гена с заболеванием, тестирование после отрицательного результата других исследований, для пренатальной диагностики, по финансовым причинам.

Identification of the genetic cause of a hereditary disease is a necessary step in the differential diagnosis, because plays an important role in evaluation of genetic risk, and in some cases also helps to determine the method of treatment, for example, for some hereditary metabolic diseases. The subsequent choice of molecular genetic testing method can be very difficult due to the presence of a number of advantages and limitations for each of these approaches. Methods of molecular genetic testing in order to identify the genetic causes of a hereditary disease, first of all, differ in diagnostic efficiency, time and cost of the study. In addition, the characteristics of different methods can also vary significantly for different groups of genetic diseases. Using the wrong method can significantly increase the time and cost of diagnosis. Recently, several data indicate that one of the next generation sequencing (NGS) methods - exome sequencing - has high efficacy for identification of the genetic cause of certain groups of hereditary diseases. Exome sequencing provides information about changes in gene coding regions - exons. A trio exome sequencing in families further increases the effectiveness of such analysis. The article describes the examples of clinical and financial feasibility of exome sequencing to identify the genetic cause of a hereditary disease. Such cases include: rare genetic diseases, heterogeneous diseases in children 0-3 years old, recently established connection of a gene with a disease, testing after negative results of other studies, for prenatal diagnosis, for financial reasons.

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