Статья
ГЕНЕТИЧЕСКИЕ АСПЕКТЫ ДИАГНОСТИКИ В ПРОФИЛАКТИЧЕСКОЙ МЕДИЦИНЕ
Секвенирование первого генома человека и последовавшее за ним стремительное развитие технологий, вызвавших существенное снижение стоимости генетического анализа и ускорение сроков его проведения, сделали возможным широкое внедрение методов генетической диагностики в клиническую практику. Современные методы молекулярной генетики позволяют анализировать наследственные факторы как на уровне хромосом методами молекулярной цитогенетики, так и на уровне точечных мутаций с помощью полимеразной цепной реакции, микрочипов или секвенирования. Темпы развития методов секвенирования следующего поколения позволяют предсказать скорое внедрение в практику персонифицированного медицинского анализа большого массива генетических данных, которые можно будет использовать для прогнозирования исхода заболевания, оценки его течения, а также для назначения и коррекции фармакотерапии. В этом обзоре рассмотрены различные и, в т.ч., новые подходы к генетической диагностике как редких, так и распространенных заболеваний, их достоинства и ограничения.
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