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Медицинская генетика

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Этические проблемы геномного скрининга: обзор литературы

https://doi.org/10.25557/2073-7998.2021.05.3-14

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Аннотация

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.

Об авторах

Е. Е. Баранова
ФГБОУ ДПО Российская медицинская академия непрерывного профессионального образования Министерства здравоохранения Российской Федерации; Медико-генетическая лаборатория ООО «Эвоген»
Россия


Г. Ю. Зобкова
Медико-генетическая лаборатория ООО «Эвоген»; ГБУЗ г. Москвы Городская клиническая больница № 67 имени Л.А. Ворохобова Департамента здравоохранения г. Москвы
Россия


М. В. Воронцова
ФГБУ «НМИЦ эндокринологии» Минздрава России
Россия


В. Л. Ижевская
ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»
Россия


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Для цитирования:


Баранова Е.Е., Зобкова Г.Ю., Воронцова М.В., Ижевская В.Л. Этические проблемы геномного скрининга: обзор литературы. Медицинская генетика. 2021;20(5):3-14. https://doi.org/10.25557/2073-7998.2021.05.3-14

For citation:


Baranova E.E., Zobkova G.Yu., Vorontsova M.V., Izhevskaya V.L. Ethical issues of genome screening: review. Medical Genetics. 2021;20(5):3-14. (In Russ.) https://doi.org/10.25557/2073-7998.2021.05.3-14

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