medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2021.05.3-14medgen-1907Research ArticleНАУЧНЫЕ ОБЗОРЫREVIEWЭтические проблемы геномного скрининга: обзор литературыEthical issues of genome screening: reviewБарановаЕ. Е.BaranovaE. E.medgen@rmapo.comЗобковаГ. Ю.ZobkovaG. Yu.noemail@neicon.ruВоронцоваМ. В.VorontsovaM. V.noemail@neicon.ruИжевскаяВ. Л.IzhevskayaV. L.noemail@neicon.ruФГБОУ ДПО Российская медицинская академия непрерывного профессионального образования Министерства здравоохранения Российской Федерации; Медико-генетическая лаборатория ООО «Эвоген»РоссияRussian Medical Academy of Continuous Professional Education of the Ministry of Healthcare of the Russian Federation; LLC EvogenRussian FederationМедико-генетическая лаборатория ООО «Эвоген»; ГБУЗ г. Москвы Городская клиническая больница № 67 имени Л.А. Ворохобова Департамента здравоохранения г. МосквыРоссияLLC Evoge; Vorohobov’s City Clinical Hospital № 67Russian FederationФГБУ «НМИЦ эндокринологии» Минздрава РоссииРоссияEndocrinology Research CentreRussian FederationФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияResearch Centre for Medical GeneticsRussian Federation202104082021205314Copyright © Баранова Е.Е., Зобкова Г.Ю., Воронцова М.В., Ижевская В.Л., 20212021Баранова Е.Е., Зобкова Г.Ю., Воронцова М.В., Ижевская В.Л.Baranova E.E., Zobkova G.Y., Vorontsova M.V., Izhevskaya V.L.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/1907

Полногеномное и полноэкзомное секвенирование имеет общепризнанную клиническую значимость для диагностики орфанных заболеваний. Вследствие развития технологии секвенирования и последующего снижения затрат на тестирование, данные методы все чаще используются не только в клинических целях, но и в качестве инструмента скрининга здоровых индивидов. При проведении исследования по поводу подозрения на генетическое заболевание в семье и при тестировании здорового человека «по желанию» могут быть выявлены «случайные находки» с разной клинической значимостью. Однако в ряде профессиональных руководств появились рекомендации по систематическому поиску клинически значимых вторичных результатов - так называемому оппортунистическому скринингу. В соответствии с этим активно обсуждаются этические проблемы оппортунистического скрининга в контексте соразмерности пользы и рисков для тестируемого человека, информированного согласия и защиты его автономии и справедливости. Этические проблемы в связи с клиническим использованием анализа генома в Российской Федерации мало изучены. В данной обзорной статье описываются упомянутые проблемы и на основе международного опыта.

Whole-genome and whole-exome sequencing have universally recognized clinical importance for the diagnosis of orphan diseases. Due to the development of sequencing technology and the subsequent reduction in diagnostic costs, these methods are increasingly used not only for clinical purposes, but also as a screening tool in healthy individuals. The study for suspected genetic disease in the family or testing a healthy person «optional» can be revealed «incidental findings» with different clinical significance. However, a number of professional guidelines recommend a systematic search for clinically significant secondary results - the so-called opportunistic screening. Accordingly, the ethical problems of opportunistic screening actively discussed, particularly in the context of the proportionality of the benefits and risks for the tested person, informed consent and the protection of autonomy and justice. Ethical problems of genetic counseling in modern economic and technical aspects in the Russian Federation have been little studied. This review article describes the problems mentioned, provides international experience and recommendations for solving the aforementioned problems.

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