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我在美国做基因检测(上)

听说基因检测最近很火?
2013年5月14日,著名影星安吉丽娜·朱莉在《纽约时报》发表了一篇名为“My Medical Choice”(译为我的医疗决定)的文章。文章里宣布了关于她决定切除乳房的决定。原因是她母亲因患癌症十年,最终于56岁不幸离世。而她也经过基因检测发现自己的乳腺癌1号基因BRCA1含有致病突变。虽然携带这种基因突变并不意味着一定会得乳腺癌,但是会增加患病的几率,特别是有乳腺癌家族史,这大大提高了她患乳腺癌的风险。她的医生告诉她,她有大约87%的危险率患有乳腺癌,并且50%的危险率患有卵巢癌。得知这个结果后,女神毅然决然的切除了自己的双侧乳腺,这使得患病几率降至5%以下。

消息一出,让预防性基因检测风头无二。《时代周刊》更是把这种现象命名为: 安吉丽娜效应。

虽然女神并没有公开宣布是哪一家公司为她做的基因检测。但是很有可能是目前美国最火的商业基因检测公司 — 23andMe.
而本小编为了追随女神的脚步,这次做的基因检测就选择了这家公司。

23andMe 公司介绍
23andMe 直译为23和我。 为什么是数字23?因为人有23对染色体。这家2006年创立于美国加州山景城的公司,业务给客户提供基因测序,从而让用户通过公司的检测报告了解自己的基因状况。作为创业公司,2015年融资达到了1.15亿美元,市场估值已经到到11亿。2015年用户已经超过一百万人。可谓是风头正盛,业界翘楚。好了,废话不多说,让我们步入基因检测的正题。

首先,基因检测你都需要准备什么?就两样东西。你的唾液+你的银子。

关于你的银子。23andMe 目前提供两套不同价位的服务。一套是“祖先分析报告”,价格99美元。一套是“健康+祖先分析报告”,价格199美元。由于最近圣诞节降至,也会有不同程度的打折活动。

小编为了“以身试法”,自掏腰包在官网上订了一套“健康+祖先分析报告”服务。你们感动不?

关于你的唾液
三天后,小编收到了公司寄来的唾液收集盒。好兴奋有木有!!!
打开以后,里面有这几样东西:唾液收集说明书,唾液收集试管,唾液样品封装袋。
按照说明要求,在收集唾液样本之前的半个小时内,不能吃东西、刷牙、使用漱口水等等。因为这些都会让你的唾液样本掺有杂质而影响你的最终检测结果。小编选择早起洗漱完,不吃不喝等待四十分钟以后开始收集唾液样本。此处省略一万字。。。。。。

总结起来一句话,就是样本量的要求还是挺高的。。。挺高的。。。
你可能注意到收集唾液的样本试管有一个大盖子。这位客官,一看你就是做过生物实验的 😉 。 这里面封存着一部分化学试剂,buffer。这是用来稀释并且稳定储存样本的。当你盖上这个盖子的时候,这部分试剂就会自然释放到试管当中。这是收集完后的样子。(个人隐私原因,我把试管末端的二维码剪切掉了)

需要注意的是,每一只试管都有14位的标签代码,这14位的标签代码是你在23andMe的身份证。你可以用此代码上官网注册你的唾液样本,然后你后续的检测结果报告都可以通过这14位代码登录并查询。
收集好了唾液,小编把它塞到唾液样品封装袋后,塞入原盒,找个邮局直接就投递给了公司。因为公司已经为你付好了邮寄费和填好了邮寄地址。有木有很贴心~~~

我的唾液样本寄走了,然后呢?
整个基因检测用户端的过程总共三步。1. 订单。2. 吐口水。3. 等报告。
我们已经完成了两个大的步骤,剩下的就是在家等公司发电子邮件通知你,你的报告好了,可以上网查询了。根据官网信息,一般收到样本以后,你需要等待4-6个星期才会出报告。小编的唾液样本已经寄到实验室了,小编还在等待结果,到时候会跟大家update一下的。

那么都有什么报告呢?
如果你像我一样订了“健康+祖先分析报告”的服务。恭喜你,你有5大类的报告。如果你只对“祖先分析报告”感兴趣的话,你只会收到第一大类的报告。都有哪五大类报告呢?
Ancestry reports, 祖先分析报告(5份)
Genetic Health Risk reports, 基于基因测序的健康风险率报告(5份+)
Wellness reports, 健康报告(5份+)
Traits reports, 个人特征报告(15份+)
Carrier Status reports, 突变携带者报告(40份+)
五大类报告和具体内容非常繁多,本文先举几个例子给大家解解馋。所有报告的具体分析,小编会等个人报告出来以后来写一篇综合分析。

第一个例子,我们先看祖先分析报告部分
Ancestry Composition (祖先成分)。该报告告诉你,你的DNA在全世界31个国家比对后的比例是多少。报告可以反映出500年前你的先祖都是怎么“跨洋跨海”的。比如样本报告中,这位叫Jamie King的人。 他有47.4%的欧洲血统,41.8%的东亚和美国土著血统,还有5.2%的撒哈拉以南非洲的血统等等。
小编表示,我猜我的检测结果是100%中国血统,哈哈哈。

除此之外,还有Your Ancestry Timeline报告。先祖时间线。你血统里面包含的最近的先祖大概在多少代以前?这份报告有一种历史的厚重感。能告诉Jamie King,他的47.4%的欧洲血统里面0.2%撒丁岛人那部分是来自他曾曾曾曾祖父母的。而且这个人大概出生在1710年到1800年。(有意思吧 )

第二个例子,关于阿尔兹海默症的检测
阿尔兹海默症,俗称老年痴呆症,是一种发病过程缓慢、随着时间不断恶化的持续性神经功能障碍。23andMe检测的是Late-Onset的阿尔兹海默症,也就是发病在65岁以后。这种可能致病的突变位于APOE基因上,你可以通过报告来看到你是否有这个突变。而幸运的Jamie就没有检测出这个突变。

第三个例子,关于你有哪些好玩的特性?
23andMe 的个人特征报告总是透露着一些搞笑的氛围。比如报告会告诉你:关于你品尝味道的喜好,你是喜欢甜的还是喜欢咸的?你品尝苦味道的敏感能力和其它用户对比是更敏感还是更不敏感?你有没有秃头的危险?你会像“如花”一样有一字眉吗?(小编表示,贫穷限制了我的想象。。。)

好了,举了几个例子报告大概能让大家感受一下基因检测都能告诉你什么。那么接下来这部分就是技术硬货了。

基因检测到底在检测什么?
23andMe拿到你的唾液样本后,到底检测的是什么?是你的整个DNA信息吗?是你的所有的基因吗?不,都不是。
一句话回答:23andMe 检测的是SNP(single-nucleotide polymorphism)。中文翻译是单核苷酸多态性。SNP指的是由单个核苷酸—A,T,C或G的改变而引起的DNA序列的改变,造成包括人类在内的物种之间染色体基因组的多样性。

有人会问:“哎?不是检测基因序列吗?为什么不是基因测序呢?”
要知道人类的基因组有多于30亿个位点,科学家花了整整十年的时间并且投入了三十亿美元才完成了一个人的全基因组测序。虽然现在科技发达了,技术成本下降了,我们可以做到用$1000美元就可以完成一个人的全基因组测序,但是花这$1000美元真的有必要吗?
首先,并不是所有人都有这个1000美元的预算。
其次,任意两个人的基因序列比对的相似度都可以达到99.9%,让我们拥有个人特性或者疾病的是那些0.1%的位点突变,也就是SNP。23andMe 挑选了600000个SNP位点检测(总共SNP为一千万),这些位点大多数是科学家通过临床研究出的和个人特征或者疾病相关的基因突变位点。检测这些SNP位点的技术叫做genotyping。
如果你觉得花199美元就可以得到根据全基因测序产生的报告,那么23andMe可能让你失望了。但是这600000个和个人特征和疾病相关的突变位点的检测不是性价比更高吗?

基因检测你应该理性对待
美国芝加哥大学人类遗传系教授蓝田(Bruce Lahn)接受生物探索采访时称:“23andMe服务的很大成分是商业炒作,甚至涉嫌是骗人的把戏。和这个领域内的大多数专家一样,我认为 23andMe提供的疾病风险信息目前没有太大用处,因为该公司检测的遗传风险因子是模糊的,在很多情况下是不确定的和有争议的,对医疗和健康很可能没有多少指导性,至少现在没有证据证明用23andMe 提供的信息设计治疗方案或改变生活方式有什么实际价值。”

小编觉得教授说的有一定的道理。

首先,基因检测的结果并不能作为诊断依据,也并不能为临床治疗提供有效的解决方案。
其次,基因检测不能预测未来。也就是说,那些报告中的风险率只是一个通过数学模型计算出的一个概率数字。数学模型选择的不同,你的风险率计算也会不同。你的风险高并不代表你就一定会得这个疾病。
再次,检测出的SNP虽然已经有研究证实和某种疾病相关,我们并不能武断的下结论。因为相关性并不等同于致病性。
再再次,生物是一个极其复杂的个体,一个疾病的产生与否很多情况下是由两个或两个以上基因共同作用的结果。
最后,一个疾病的发展并不只取决于你是否携带着某一个致病的突变。这和个人的饮食和生活习惯,甚至外界环境都息息相关。如果你检查出了携带有相关的致病突变,不要害怕紧张。因为你比以前更加了解自己,对应的建立一套养生作息则更加贴近实际。
“基因检测”听起来确实很炫酷,但是大众化普及化程度很低,大家并不知道这个黑匣子里面到底是什么。所以很多“别有用心”的人会打着“免费基因检测”的旗号,销售保险或者保健品等等。请大家要理性的对待。

作者: GeneRanger

生物信息,基因检测。微信公众号:GeneRanger,可扫描二维码关注。



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