medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2020.11.39-46medgen-1794Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHРезультаты пилотного исследования этических аспектов практического применения современных технологий генетического тестированияThe assessment of ethical aspects of the genetic counseling efficacy in Russian FederationБарановаЕ. Е.BaranovaE. E.baranova.gen@gmail.comЗобковаГ. Ю.ZobkovaG. Yu.noemail@neicon.ruИжевскаяВ. Л.IzhevskayaV. L.noemail@neicon.ruФГБОУ ДПО Российская медицинская академия непрерывного профессионального образования Министерства здравоохранения Российской ФедерацииРоссияRussian Medical Academy of Continuous Professional EducationRussian FederationГБУЗ г. Москвы Городская клиническая больница № 67 имени Л.А. Ворохобова Департамента здравоохранения г. МосквыРоссияVorohobov’s City Clinical Hospital № 67Russian FederationФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияResearch Centre for Medical GeneticsRussian Federation20200202202119113946Copyright © Баранова Е.Е., Зобкова Г.Ю., Ижевская В.Л., 20212021Баранова Е.Е., Зобкова Г.Ю., Ижевская В.Л.Baranova E.E., Zobkova G.Y., 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/1794

Цель исследования: выявить этические проблемы, возникающие в процессе медико-генетического консультирования при использовании современных методов генетического тестирования (полногеномный анализ, расширенный скрининг носителей мутаций). Для исследования была разработана анкета, позволяющая оценить социально-демографические и профессиональные характеристики врача и содержащая вопросы и ситуационные задачи по основным этическим проблемам. В анкетировании приняло участие 30 специалистов разных специальностей, связанных с медицинской генетикой. При назначении генетических тестов врачам было важно помочь супружеским парам иметь здоровых детей. Большинство респондентов считали, что до вступления в брак ответственные люди должны знать, не являются ли они или их партнеры носителями мутаций, приводящих к наследственным заболеваниям, которые могут быть переданы детям. Также большая часть респондентов высказала согласие с необходимостью обязательного скрининга на носительство мутаций наиболее частых моногенных заболеваний и неонатального скрининга на миодистрофию Дюшенна и спинальную мышечную атрофию. Кроме того, специалисты поддерживают необходимость создания этического кодекса врачей-генетиков. В данном пилотном исследовании были выявлены основные векторы этических проблем специалистов медико-генетического профиля, которые требуют углубленного изучения в последующих более масштабных исследованиях.

The study aim was to identify ethical problems arising in the process of genetic counseling while using modern methods of genetic testing (WGS, extended carrier screening). A special questionnaire was developed to assess the ethical dilemmas and attitudes of doctors working in the field of medical genetics. The questionnaire consists of 28 complex questions and contains a general part that allows you to evaluate the socio-demographic and professional characteristics of the doctor. The survey was attended by 30 specialists. For doctors it was important to help married couples have healthy children while prescribing genetic tests. The majority of the respondents believed that before marriage, responsible people should know if they or their partners are carriers of mutations that lead to inherited diseases that can be passed on to children. Also, most of the respondents agreed with the need for mandatory screening for the carriage of mutations in the most common monogenic diseases and neonatal screening for Duchenne muscular dystrophy and spinal muscular atrophy. In addition, experts support the creation of an ethical codex for geneticists. In this pilot study, the main vectors of ethical problems of medical and genetic specialists were identified, which require in-depth study in subsequent larger studies.

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