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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.25557/2073-7998.2025.04.4-11</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-2941</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>НАУЧНЫЙ ОБЗОР</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>REVIEW</subject></subj-group></article-categories><title-group><article-title>Этические проблемы преконцепционного генетического тестирования</article-title><trans-title-group xml:lang="en"><trans-title>Ethical issues of preconception genetic testing</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Гребенщикова</surname><given-names>Е. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Grebenshchikova</surname><given-names>E. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Гребенщикова Елена Георгиевна</p><p>117418, г. Москва, Нахимовский проспект, д. 51/21,</p><p>117513, г. Москва, , ул. Островитянова, д.1</p></bio><bio xml:lang="en"><p> Elena G. Grebenshchikova</p><p>51/21, Nakhimovsky prospect, Moscow, 117418,</p><p>1, Ostrovitianova st., Moscow, 117513</p></bio><email xlink:type="simple">aika45@yandex.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБУН Институт научной информации по общественным наукам Российской академии наук; &#13;
ФГАОУ ВО Российский национальный исследовательский медицинский университет им. Н.И. Пирогова Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Institute of Scientific Information for Social Sciences of the Russian Academy of Sciences;&#13;
Pirogov Russian National Research Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2025</year></pub-date><pub-date pub-type="epub"><day>26</day><month>07</month><year>2025</year></pub-date><volume>24</volume><issue>4</issue><fpage>4</fpage><lpage>11</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Гребенщикова Е.Г., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Гребенщикова Е.Г.</copyright-holder><copyright-holder xml:lang="en">Grebenshchikova E.G.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.medgen-journal.ru/jour/article/view/2941">https://www.medgen-journal.ru/jour/article/view/2941</self-uri><abstract><p>Этические проблемы преконцепционного генетического тестирования долгое время ассоциировались только с программами профилактики нескольких наследственных заболеваний в отдельных регионах мира. Перспективы внедрения преконцепционного генетического скрининга в здравоохранение актуализируют комплекс этических проблем, связанных с информированием будущих родителей, обеспечением их осмысленного выбора, предупреждением дискриминации и учетом уже накопленного в медицинской генетике опыта. При этом особое значение имеют социокультурные аспекты, поскольку они влияют на принятие решений относительно тестирования, социальное восприятие рисков и готовность принимать решения на основе информации, полученной от врача-генетика.</p></abstract><trans-abstract xml:lang="en"><p>For a long time, ethical issues related to preconception genetic testing have been associated primarily with prevention programs for a limited number of hereditary diseases in specific regions of the world. The prospect of introducing preconception genetic screening into healthcare systems brings to light a complex set of ethical challenges, including providing comprehensive information to prospective parents, ensuring their truly informed decision-making, preventing discrimination, and drawing upon the accumulated experience of medical genetics. Sociocultural factors are particularly important in this context, as they influence the decision-making process regarding testing, shape social perceptions of risk, and affect individuals’ willingness to make choices based on information received from medical geneticists.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>преконцепционное генетическое тестирование</kwd><kwd>преконцепционный генетический скрининг</kwd><kwd>профилактика наследственных болезней</kwd><kwd>репродуктивная автономия</kwd><kwd>биоэтика</kwd></kwd-group><kwd-group xml:lang="en"><kwd>preconception genetic testing</kwd><kwd>preconception genetic screening</kwd><kwd>prevention of hereditary diseases</kwd><kwd>reproductive autonomy</kwd><kwd>bioethics</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Исследование выполнено за счет гранта Российского научного фонда (проект № 19-18-00422)</funding-statement><funding-statement xml:lang="en">The study was carried out with the support of the Russian Science Foundation (grant no. 19-18-00422)</funding-statement></funding-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">de Wert G., van der Hout S., Goddijn M. et.al The ethics of preconception expanded carrier screening in patients seeking assisted reproduction. 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