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Его задача — «расшифровать» биологический код, чтобы помочь врачам и родителям принять правильные решения [2](https://gutaclinic.ru/articles/zachem-detyam-vrach-genetik/). \n\nДеятельность генетика включает работу с наследственными заболеваниями, диагностику генетических нарушений, консультации и рекомендации по профилактике [2](https://gutaclinic.ru/articles/zachem-detyam-vrach-genetik/)[4](https://MelanomaUnit.moscow/blog/zachem-nuzhna-konsultacziya-vracha-genetika/)[17](https://lastivka.clinic/ru/blog101/rol-genetiki-v-profilaktike-nasledstvennyh-zabolevaniy/).\n\n## Заболевания\nГенетик выявляет и лечит **наследственные заболевания**, вызванные генетическими мутациями и аномалиями [1](https://premium-clinic.ru/chto-lechit-genetika/)[6](https://dc116.ru/specialization/genetika/). Некоторые из них: \n* **Хромосомные** — связаны с изменением числа или структуры хромосом (например, синдром Дауна, синдром Тернера) [3](https://medlabspb.ru/services/doctors-appointments/genetics/)[6](https://dc116.ru/specialization/genetika/). \n* **Моногенные** — вызваны мутацией в одном гене (муковисцидоз, фенилкетонурия) [3](https://medlabspb.ru/services/doctors-appointments/genetics/). \n* **Полигенные** — при мутациях в нескольких генах сразу [3](https://medlabspb.ru/services/doctors-appointments/genetics/). \n\nТакже генетик помогает выявить **генетические предрасположенности** к различным заболеваниям [3](https://medlabspb.ru/services/doctors-appointments/genetics/).\n\n## Диагностика\nДля диагностики наследственных заболеваний генетик назначает **генетические исследования** [1](https://premium-clinic.ru/chto-lechit-genetika/)[11](https://kdl.ru/patient/blog/geneticheskie-issledovaniya). Некоторые методы: \n* **Генетическое тестирование** — анализ ДНК, который выявляет мутации, связанные с наследственными заболеваниями [17](https://lastivka.clinic/ru/blog101/rol-genetiki-v-profilaktike-nasledstvennyh-zabolevaniy/). \n* **Кариотипирование** — исследование структуры и числа хромосом для выявления хромосомных аномалий [1](https://premium-clinic.ru/chto-lechit-genetika/)[11](https://kdl.ru/patient/blog/geneticheskie-issledovaniya). \n* **Пренатальная диагностика** — генетические исследования, проводимые во время беременности для выявления наследственных заболеваний и аномалий у плода [1](https://premium-clinic.ru/chto-lechit-genetika/).\n\n## Консультации\nКонсультация врача-генетика необходима в разных ситуациях, например: \n* **Планирование беременности** — особенно если у одного или обоих родителей есть генетические заболевания или подозрение на них [4](https://MelanomaUnit.moscow/blog/zachem-nuzhna-konsultacziya-vracha-genetika/)[5](https://doct.ru/articles/konsultatsiya-genetika.html). \n* **Бесплодие** — для выявления генетических причин нарушения репродуктивной функции и определения путей её восстановления [4](https://MelanomaUnit.moscow/blog/zachem-nuzhna-konsultacziya-vracha-genetika/). \n* **Беременные женщины с неблагоприятными последствиями скрининга плода** — если пренатальные тесты показывают повышенный риск генетических изменений, важно уточнить диагноз и спланировать дальнейшие шаги [4](https://MelanomaUnit.moscow/blog/zachem-nuzhna-konsultacziya-vracha-genetika/).\n\n## Профилактика\nВрач-генетик даёт **рекомендации по профилактике наследственных заболеваний** [5](https://doct.ru/articles/konsultatsiya-genetika.html)[16](https://blogs.genotek.ru/disease-transmission-research). Например: \n* **Генетический тест перед беременностью** — помогает определить риск наличия у пары скрытых генетических нарушений, способных повлиять на здоровье потомства [16](https://blogs.genotek.ru/disease-transmission-research). Важно пройти тест обоим партнёрам [16](https://blogs.genotek.ru/disease-transmission-research). \n* **Рекомендации относительно методов планирования семьи** — например, экстракорпоральное оплодотворение (ЭКО) с предварительным отбором эмбрионов [16](https://blogs.genotek.ru/disease-transmission-research).","linksData":[{"sourceId":1,"url":"https://premium-clinic.ru/chto-lechit-genetika/","shownUrl":"https://premium-clinic.ru/chto-lechit-genetika/","title":"Что лечит генетика?","shortUrl":"premium-clinic.ru","isTranslated":false,"description":"","greenUrl":"premium-clinic.ru"},{"sourceId":2,"url":"https://gutaclinic.ru/articles/zachem-detyam-vrach-genetik/","shownUrl":"https://gutaclinic.ru/articles/zachem-detyam-vrach-genetik/","title":"Врач-генетик для детей: разбираемся в сложных вопросах наследственности в статье ГУТА 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