Мы не готовы к грядущей генетической революции
Когда 15 лет назад ученые картировали генетическую информацию людей (геном), они обещали изменить мир. Оптимисты ожидали эпоху, в которую исчезнут все генетические болезни. Пессимисты опасались распространения генетической дискриминации. И те и другие оказались неправы. Причина проста: наш геном очень сложный. Возможность находить конкретные отличия в геноме — лишь малая часть понимания того, как на самом деле работают генетические вариации, рождая все эти черты, которые мы видим. К сожалению, немногие понимают, насколько сложна генетика. И поскольку все больше продуктов и услуг начинают использовать генетические данные, существует опасность, что это непонимание заставит людей принимать очень плохие решения.
В школе нас учили, что карие глаза определяет доминантный ген, а голубые — рецессивный. В реальности же не бывает человеческих черт, которые передаются из поколения в поколения настолько прямым путем. Большинство черт, включая цвет глаз, развиваются под влиянием нескольких генов, каждый из которых вносит свой небольшой вклад.
Более того, каждый ген вносит свой вклад в самые разные черты — эта концепция называется плейотропией. Например, генетические варианты, связанные с аутизмом, также были связаны с шизофренией. Когда ген относится к одному признаку положительным образом (например, производит здоровое сердце), а к другому отрицательным (увеличивая риск дегенерации желтого пятна в глазах), это называется антагонистической плейотропией.
По мере увеличения вычислительной мощности, ученые смогли выделить много отдельных молекулярных различий в ДНК с конкретными человеческими характеристиками, включая поведенческие черты, такие как любовь к учебе и психопатия. Каждый из этих генетических вариантов объясняет лишь небольшую вариацию у населения. Но когда все эти варианты суммируются, они объясняют все больше и больше различий, которые мы видим между людьми. И в условиях нехватки генетического знания многие вещи будут непонятны.
К примеру, мы могли бы секвенировать ДНК новорожденного ребенка, вычислить его полигенный показатель для достижения успеваемости и использовать его для прогнозирования с некоторой степенью точности, насколько хорошо он будет успевать в школе. Генетическая информация может быть самым сильным и точным прогнозистом сильных и слабых сторон ребенка. Использование генетических данных позволило бы нам более эффективно персонализировать образование и целевые ресурсы для детей, которые больше всего в этом нуждаются.
Но это сработает только в том случае, если родители, учителя и законоделы будут достаточно понимать генетику, чтобы корректно использовать эту информацию. Генетические эффекты можно предотвратить или улучшить, меняя окружение человека, включая предоставления ему возможности и выбора в образовании. Существует также мнение, что определенные генетические показатели могут привести к системе, в которой дети будут навсегда разделены по классам в зависимости от их ДНК и не получат должной поддержки их настоящих способностей.
Улучшенное медицинское знание
В медицинском контексте люди чаще всего следуют совету на тему генетики, полученному от врача или другого профессионала. Но даже при такой поддержке люди, обладающие хорошим генетическим знанием, извлекут больше выгоды и смогут принимать более обоснованные решения о своем собственном здоровье, планировании семьи и здоровье родственников. Людей уже сейчас смущают предложения провести дорогостоящее генетические тестирование и лечение рака на основе генетической информации. Понимание генетики помогло бы им избежать лечения, которое не нужно в их отдельном случае.
Сегодня геном человека можно отредактировать напрямую, используя метод CRISPR. Несмотря на то, что такие методы генетической модификации сильно зарегулированы, относительная простота CRISPR означает, что биохакеры уже взяли этот инструмент на вооружение и редактируют собственные геномы, например, для усиления мышц или лечения ВИЧ.
Подобные услуги биохакеров, вероятнее всего, будут становиться все доступнее и чаще предлагаться (даже незаконные). Но, как мы выяснили, узнав о плейотропии, изменение одного гена положительным образом может иметь катастрофические непреднамеренные последствия. Даже небольшое понимание всего этого может спасти будущих биохакеров от дорогостоящей или, возможно, даже фатальной ошибки.
Мы становимся все более уязвимы к потенциальной генетической дезинформации, поскольку у нас нет специалистов, с которыми можно посоветоваться. Например, британская компания Marmite, производящая пищевые спреды, недавно запустила рекламную кампанию, предлагающую провести генетический тест, позволяющий понять, любите вы Marmite или ненавидите, всего за 89 фунтов. Несмотря на остроумие и веселость самой кампании, у него есть несколько проблем.
Во-первых, предпочтение паштетов Marmite, как и любая другая сложная черта, определяется сложным взаимодействием генов и окружающей среды, а не дается при рождении. В лучшем случае подобное испытание подскажет, есть ли у вас склонность к продуктам такого плана, да и то будет весьма неточно. Во-вторых, в рекламной кампании показывают молодого человека, который «признается» отцу в том, что он любит Marmite. Эта очевидная аналогия с сексуальной ориентацией может укрепить устаревшее и опасное понятие «гей-гены» или даже мысль о том, что может существовать какой-нибудь один ген для сложных признаков.
Знание — лучший инструмент генетической революции. Нужно быть готовыми.
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