基因检测创业:现实极其骨感,理想特别丰满

本文为奇点原创文章(公众号:geekheal_com),作者:周伦

对于基因检测而言,2015年注定要被铭记。年初,卫计委相继批准了高通量测序在遗传病诊断、产前筛查与诊断、植入前胚胎遗传学诊断、肿瘤诊断与治疗领域的临床应用。直接导致几家拿到资质的公司业务爆棚。反观“直接面向消费者”的基因检测,有关部门目前还没有严格的监管,这也就催生了国内面向消费者基因检测的创业热潮。

与临床应用相比,直接面向消费者的基因检测要面对技术不成熟,市场待成熟等严峻的问题,那么这些问题创业者是如何看待的?于是奇点糕和WeGene联合创始人陈钢就一系列严肃的问题侃了大半天。

基因检测让用户很困惑

早在2013年,Kira Peikoff在《纽约时报》刊登了她在23andMe、Genetic Testing Laboratories和Pathway Genomics三家公司做基因检测的经历。由于三家公司出具的报告差异太大,Kira Peikoff认为基因检测让她“大开眼界”。

实际上,在目前看来,对于那些复杂疾病,由于各家公司选取的检测位点,使用的检测技术,和数据库等不同,会造成检测报告之间存在一定的差异。这种差异目前还没有办法避免。因为有些疾病在基础科学研究层面上都还有分歧。这就给用户带来很多困扰,“基因检测的这些结果到底靠不靠谱?”这算是目前让基因检测公司“最心虚”的一个问题。

对于这个问题,陈钢认为,对于那些相对简单的表型,类似叶酸、酒精分解、爆发力等等,现在各家的检测结果是比较一致的。而对于那些复杂的疾病,随着检测的数据量越来越大,覆盖的位点和区域越来越多,对某些重要疾病的遗传机理越来越深入的了解,检测结果会逐步趋同。

另外一个严重困扰用户的问题是:常规的基因检测给出的常常是各种疾病的风险值,风险或高或低,即便知道了又能咋整呢?

“这也是一个我们经常思考的问题”,陈钢说,“基因检测得到的结果能不能对用户的生活产生一些有益的影响?比如朱莉在全面的基因检测之后,决定切除自己的乳腺从而降低罹患乳腺癌的风险,但是又有多少人会做类似的抉择呢?显然,这个比例是极低的。” 在陈钢看来,基因检测最终的建议可能就是,“多运动,注意饮食”这种放之四海而皆准的建议,对用户的意义自然不大。

上述两个困扰导致用户在基因检测上的付费意愿极低,那么这类基因检测公司如何盈利呢?在这个问题上,陈钢出奇地坦率,“目前大部分公司都是以平价的模式销售产品,再通过积攒数据在未来获取收益。但是,我认为,包括我们在内的公司,并没有哪一家非常清楚地想明白这些数据未来如何变现。23andMe在2006年开始做的时候,它肯定也没想到今天会成为一家药物研发的公司。所以,对于这个问题,我们只能去试。”

祖源分析和运动分析可能是突破口

对于普通消费者而言,如果遵循基因检测在疾病预测上的建议,比如乳腺癌风险高,就去切除乳腺;前列腺癌风险高,就去切除前列腺,这种建立在概率基础上的改变,要付出的代价显然有点儿高。因此,国内外很多公司都将目光盯在大众比较感兴趣的祖源分析(祖源分析属于分子人类学范畴。分子人类学是人类学的分支,它是利用人类基因组的分子分析以及DNA遗传信息来分析人类起源、民族演化等多方面多层次的问题的学科)上,比如23andMe和ancestry.com。WeGene也将自己的重点放在了祖源分析和运动基因分析上。陈钢说,“在某种程度上讲,祖源分析可以认为是100%准确的,甚至可以作为金标准。”

祖源分析包括,Y染色体族群、线粒体染色体族群,以及常染色体祖源分析。通过祖源分析可以将遗传信息与姓氏、家族联系在一起,甚至可以刻画出主要家族的家谱,以及对某些家族的家谱进行验证。祖源分析能给消费者带来的是,计算人群之间的相互联系,以及迁移的过程,使人在基因组水平上的关联变得更加紧密,从而构建关于血缘和祖源的社交。

wegene

尽管运动基因与运动的关系也不是100%,但是,已经有一些基因与运动的关系比较明确。在美国,有一本介绍基因与运动关系的畅销科普书《The Sports Gene: Inside the Science of Extraordinary Athletic Performance》。想必有不少人听说过“10000小时理论”,这本书会告诉你,在很多运动中“10000小时理论”都是有缺陷的。

“想知道自己适合什么类型的运动吗?想自己自己每周运动的次数和时长吗?那么,就做个运动基因检测吧。当然,如果你不想做基因检测,又想知道适合自己的锻炼方式,那么你就耐心等候吧。等到我们积攒足够的数据时,我们就可以根据客户提供的简单信息(比如户籍),给出不具个性化,但有针对性的训练方案。例如针对广东人的运动方案,针对哈尔滨人的运动方案。”陈刚说。因为遗传信息是具有一定的地区特异性的,比如两广是“地贫”的高发区,要重点筛查,其他地区却不需要。

基因检测市场的突破需要不断的尝试

对国人而言,基因检测还勉强算作是新鲜事物,愿意尝鲜的人实在太少。怎么办呢?只能想方设法去找那些愿意接受新鲜事物的年轻人,尤其是那些有理工科背景的科技控。这也是不少公司选择了线上销售的模式的主要原因。

另外,从23andMe的经验中不难发现,科普是推广基因检测中必不可少的重要一环。23andMe和ancestry.com能积攒100多万的用户,基因科普居功至伟。

前文提到的畅销科普书《The Sports Gene》,曾被《New York Times》评为最畅销的书籍。这么好的科普教材,不能跟中国的消费者见面,真是太可惜了。因此,WeGene跟图灵公司合作引进了《The Sports Gene》一书的中文版权,并在社区发起了众包翻译的活动,目前这本书的翻译工作已经完成。

Sports-Gene

陈钢告诉我,他经常在类似于知乎的各大社区科普,期间他遇到了这样一件小事。说是在知乎上有人@他,找他咨询了一件事。事情是这样的:一个有浪漫情怀的男生,他的女朋友复姓“呼韩”,据他对象说她们家有类似于匈奴这种少数民族的血统。这不,马上对象要过生日了,小男生要送个特殊的礼物给她,就是想证明他女朋友的确有少数民族的血统。由于那时WeGene的祖源分析套餐还没有发布,因此就给他寄去了一个标本采集盒。据说,那个小盒子的效果不错。

实际上,事情就是这样的,人民群众的需求你总是搞不清楚的,因此我们要做的就是汇集广大劳动人民的智慧。这时我就突然想起了WeGene官网的社区,一个讨论基因检测产品的地方。这不就跟小米的官方论坛一样嘛!好了,我不往下说了,你们懂的。陈钢说,“很多事情如果你不去做,你就不知道会发生什么。”

如果畅想的话,未来还是很美好的

现在的科学研究认为,“人类的遗传信息主要在基因组里”,如果这一条假设没有被突破,基因组信息的收集就是一件非常有价值的事情,也只有基因组数据积累到足够大的程度,精准医疗才能成为可能。

既然要积累大量的基因组数据,基因检测的成本非得降低不可。这得从基因检测和数据分析两个方面着手。

从近几年的技术进展来看,英国Oxford Nanopore Technologies 公司的Nanopore 测序设备被寄予厚望。如果这种掌上测序设备发展的更加成熟,将对基因检测行业带来不可估量的影响。陈钢甚至调侃到,“如果哪一天连深圳的华强北都可以开始产测序仪的时候,这种局面将对基因检测产生很大的影响。”

Oxford-Nanopore-MinION

 

再就是数据的分析,这部分比较复杂。简而言之,刚开始时数据量小啊,只需要对常用的分析软件做些优化,就足够了。但是现在呢?小打小闹不行了,数据量变大了,所以才有Deep Genomics这种公司,要借助人工智能算法分析数据。这样一来对计算资源的要求就越来越高。据了解国内有些数据巨头,现在都需要借助超级计算机来分析数据。

还有数据存储,陈钢讲,23andMe不愧是行业老大,目前全世界没有第二家公司是按照23andMe的模式,让客户随时能够访问个人全基因组任何一个位点的信息。国内那些做全基因组测序服务的公司,要么是让用户自行下载原始数据,要么是挑选部分可解读位点出报告。目前在国内还没有看到哪个同行在做存储这件事,不过Google Genomics已经支持这种操作了。

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