偷师科技界，基因组学牵手开放系统

    美国人类遗传学协会（American Society of Human Genetics，ASHG）上周在波士顿开会。不过，这次大会根本没有像美国得克萨斯州举行的西南偏南大型音乐节（South by Southwest）那么轰动爆棚，甚至也赶不上像知名科技博客网站TechCrunch 举办的Disrupt这种更正统的会议。可它本应该很像百思买旗下的电脑技术服务商geek squad那样广为人知。

    美国人类遗传学协会的这次会议探讨了许多有关数据的问题，而另一个热门话题是公开平台怎样催生新的遗传学应用产业。

    实际上，与所有传统数据中心的规模相比，遗传学研究得来的数据都相形见绌。相关领域的应用存在巨大的商机。不过，在我们印象里，人们上一次像讨论Twitter或是最新型购物应用那样频繁或者那么热火朝天地讨论遗传学的研究应用是在什么时候？

    今年5月，《财富》资深分析师丹•普利马克预计，雅虎（Yahoo）同意收购Tumblr当天，媒体会连篇累牍地报道这笔11亿美元的交易，却不大可能报道同日发生的另一项并购新闻，也就是美国制药集团阿特维斯（Actavis）以85亿美元收购一家爱尔兰制药公司Warner Chilcott的交易。

    普利马克写道：“为什么我们媒体人如此沉迷于报道一家低收入博客平台的收购，而面对另一起并购，它将产生价值110亿美元的公司，新公司会致力于治疗疾病，提高人们健康水平，我们却如此不屑一顾？首先，对大多数人来说，Tumblr创造的产品比阿特维斯或Warner Chilcott更容易理解。其次，这是科技界的新闻，聚焦科技的媒体网站比关注医疗保健的多得多。”

    我一直很欣赏丹在评论风投和初创企业方面表现出来的坦率，可他的这篇专栏文章竟然给我留下了难以磨灭的印象。它令我回想起波士顿，在那里举行的ASHG大会也没有得到大范围的商业报道关注。

    假如许多报道科技领域的媒体愿意深入了解基因组学，参加遗传学的研讨会和海报展示介绍会，他们本周就会报道PCR领域取得的进步和最新的排序应用。

    PCR对寻常门外汉而言属于那种毫无意义的首字母缩略词。而在科技圈内，它可是能让热播美剧《生活大爆炸》男主角谢耳朵那类超级极客天才兴奋不已的研究领域，是支持医疗保健系统标杆。PCR的全称是聚合酶链式反应（Polymerase Chain Reaction）一词。它的鼻祖是全能型发明家、美国生物化学家凯利•班克斯•穆利斯博士。他的自传涉及话题广博，包括星象学、服用制幻剂麦角二乙胺（LSD），甚至还提到有一次与外星人的邂逅。穆利斯博士还因为PCR赢得了1993年的诺贝尔奖。

    为什么普通民众也应该关心PCR？1983年，这项可以用来放大或缩小多个特定地区DNA拷贝的技术诞生，分子生物学的定律由此改写。为什么这个技术很重要？因为如果要发现和监控疾病，我们就需要足够的DNA进行测试并进行新的医药申请。PCR问世后的前25年，它已成为医学与生物研究实验室使用的核心技术，但这期间PCR几乎没有多少变化。不过，就在过去五年，少数积极开拓的企业不仅优化、提升了这项实验室的技术，还推出了衍生的新技术。如今出现了qPCR和dPCR，其中q代表量化，d代表数字化。

    he American Society of Human Genetics met last week in Boston, and it didn't generate anywhere close to the same buzz as South by Southwest. Or even a more modest confab like a TechCrunch Disrupt. But it would have felt quite familiar to the geek squad.

    There was lots of discussion about data and about how open platforms will spawn a new genetics application industry.

    In fact, the amount of data coming out of genetic research dwarfs anything in traditional data centers. And there's huge application opportunity associated with it. Yet when is the last time you heard it discussed with the same frequency or passion as Twitter (TWTR) or the latest mobile shopping app?

    Dan Primack wrote last May, when Yahoo (YHOO) agreed to acquire Tumblr, that while there would be tons of coverage of the $1.1 billion deal, less likely to generate coverage was the day's bigger M&A news: Actavis (ACT) was buying Warner Chilcott for $8.5 billion:

    "So why are us media folks so obsessed with the acquisition of a low-revenue blogging platform and so dismissive of an $11 billion combined revenue company that tries to cure disease and improve health? For one, it's easier for most of us to understand what Tumblr makes than what Actavis or Chilcott make. Second, it's a tech story and there are far more tech-focused media sites than healthcare-focused media sites."

    I've always appreciated Dan's candid takes on the venture and startup world, but this column left a lasting impression. This leads me back to Boston and the ASHG conference, and the stories that didn't get broader business coverage.

    If there had been many tech media walking the halls tapping into the genomics and genetics panels and poster sessions they would be reporting this week on advancements in PCR and the latest sequencing applications.

    PCR is one of those acronyms that mean nothing to the average lay person, but within the science community it gets the Sheldon Coopers of the world lathered up and is a standard underpinning of the healthcare system. PCR is short for Polymerase Chain Reaction, which has a storied history. It starts with its colorful inventor Dr. Kary Banks Mullis, whose autobiography topics included astrology, LSD use and an encounter with an extraterrestrial. He also went on to win a Nobel Prize for The Polymerase Chain Reaction in 1993.

    Why should the average Jane or Joe care about PCR? In 1983 it changed the rules in molecular biology by creating a technique used to amplify or reproduce the number of copies of a specific region of DNA. Why is this important? Because you need enough DNA to adequately test and create new applications for disease discovery and monitoring. For the first 25 years of its existence, PCR became an essential technique used in medical and biological research labs, but it didn't change all that much. In the past five years, however, a few pioneering companies have not just refined and advanced the lab technique, they've added new technologies around it. There's now qPCR and dPCR (q for quantitative and d for digital).