时代杂志2008最佳发明 The Retail DNA Test

TIME's Best Inventions of 2008 时代杂志2008最佳发明：个人DNA测试居首
个人DNA测试服务

　　美国《时代》杂志最近评出了2008年“50项最重要的发明”，“个人DNA测试服务”位居榜首当选本年度最佳发明，此外欧洲大型强子对撞机、鲨鱼皮泳衣、仿生手等一同入选。

　　以下为本年度最佳发明“个人DNA测试服务”简介：　　

了解和分享你的遗传秘密是颇具争议的基因测试服务23andMe的核心内容。你只要花上399美元，即可进行DNA唾液测试，对你90多项特征和身体状况进行评估，如秃顶和失明。尽管23andMe并非世界上唯一一家向公众推出DNA测试服务的公司，但在使这项服务可获取和可承受方面，它绝对是做得最好的。
　　23andMe联合创始人安妮•沃西基(Anne Wojcicki)表示，23andMe可以为客户识别和解读60万个遗传标记，这些遗传标记“其实是你的数码表现形式。这是你从镜子中绝对看不到的有关自己性情的信息。”沃西基大学主修生物学，之前曾投资过卫生保健项目。
　　我们正处在个人基因组学(personal-genomics)革命的初始阶段，这场革命不仅会转变我们照顾自己的方式，还将改变我们个人信息的表现形式。过去，只有精英阶层的研究人员才有机会得到他们的遗传指纹，但现在这些曾经看似遥不可及的信息对每个人来说都触手可及：登陆23andMe网站在线订购其服务，将唾液样本寄送至指定地点即可。
　　但是，23andMe如何利用这种信息？有关这个问题的详细情况目前尚不清楚——23andMe已引发了从测试结果有何意义到如何避免基因歧视等一系列问题的大讨论——虽然大幕已经拉了回去，但永远甭想再紧闭。于是，对于先驱性“零售”基因组学来说，23andMe的DNA测试服务便是《时代》杂志的“2008年度发明”。
　　沃西基和公司另外一位联合创始人琳达•埃维(Linda Avey)不仅将自己看作是商人，还是社会创业者。只要客户赞同，她们计划将他们每一个人的遗传指纹汇集到一个大型数据库中，从这个数据库中，我们可以查找到有关哪种基因突变使我们更易患上某些疾病，我们更有可能对哪些药物起反应的线索。
　　沃西基说：“你其实是在捐献你的基因信息。如果拥有更多这方面的信息，我们就会拥有伟大的发现。我们所有人都携带这种信息，假如我们将信息搜集起来然后对民众公开，我们确实有可能改变当前卫生保健状况。”

1. The Retail DNA Test
    By Anita Hamilton


Before meeting with Anne Wojcicki, co-founder of a consumer gene-testing service called 23andMe, I know just three things about her: she's pregnant, she's married to Google's Sergey Brin, and she went to Yale. But after an hour chatting with her in the small office she shares with co-founder Linda Avey at 23andMe's headquarters in Mountain View, Calif., I know some things no Internet search could reveal: coffee makes her giddy, she has a fondness for sequined shoes and fresh-baked bread, and her unborn son has a 50% chance of inheriting a high risk for Parkinson's disease.

Learning and sharing your genetic secrets are at the heart of 23andMe's controversial new service — a $399 saliva test that estimates your predisposition for more than 90 traits and conditions ranging from baldness to blindness. Although 23andMe isn't the only company selling DNA tests to the public, it does the best job of making them accessible and affordable. The 600,000 genetic markers that 23andMe identifies and interprets for each customer are "the digital manifestation of you," says Wojcicki (pronounced Wo-jis-key), 35, who majored in biology and was previously a health-care investor. "It's all this information beyond what you can see in the mirror."
We are at the beginning of a personal-genomics revolution that will transform not only how we take care of ourselves but also what we mean by personal information. In the past, only élite researchers had access to their genetic fingerprints, but now personal genotyping is available to anyone who orders the service online and mails in a spit sample. Not everything about how this information will be used is clear yet — 23andMe has stirred up debate about issues ranging from how meaningful the results are to how to prevent genetic discrimination — but the curtain has been pulled back, and it can never be closed again. And so for pioneering retail genomics, 23andMe's DNA-testing service is Time's 2008 Invention of the Year.

The 1997 filmGattacadepicted it as a futuristic nightmare, but human-genotyping has emerged instead as both a real business and a status symbol. Movie mogul Harvey Weinstein says he is backing 23andMe not for its cinematic possibilities but because "I think it is a good investment. This is strictly medical and business-like." Google has chipped in almost half the $8.9 million in funding raised by the firm, which counts Warren Buffett, Rupert Murdoch and Ivanka Trump among its clients.
Weinstein isn't saying what his test told him, but Wojcicki and her famous husband are perfectly willing to discuss their own genetic flaws. Most worrisome is a rare mutation that gives Brin an estimated 20% to 80% chance of getting Parkinson's disease. There's a 50% chance that the couple's child, due later this year, will inherit that same gene. "I don't find this embarrassing in any way," says Brin, who blogged about it in September. "I felt it was a lot of work and impractical to keep it secret, and I think in 10 years it will be commonplace to learn about your genome."

And yet while Wojcicki and Brin aren't worried about genetic privacy, others are. In May, President George W. Bush signed a bill that makes it illegal for employers and insurers to discriminate on the basis of genetic information. California and New York tried to block the tests on the grounds that they were not properly licensed, but have so far been unsuccessful. Others worry about how sharing one's genetic data might affect close relatives who would prefer not to let a family history of schizophrenia or Lou Gehrig's disease become public. And what if a potential mate demands to see your genome before getting serious? Such hypotheticals are endless. And some researchers argue that the tests are flawed. "The uncertainty is too great," says Dr. Muin Khoury, director of the National Office of Public Health Genomics at the Centers for Disease Control and Prevention, who argues that it is wrong to charge people for access to such preliminary and incomplete data. Many diseases stem from several different genes and are triggered by environmental factors. Since less than a tenth of our 20,000 genes have been correlated with any condition, it's impossible to nail down exactly what component is genetic. "A little knowledge is a dangerous thing," says Dr. Alan Guttmacher of the National Institutes of Health.

23andMe is unfazed by its detractors. "It's somewhat paternalistic to say people shouldn't get these tests because 'we don't want people to misunderstand or get upset,'" says board member Esther Dyson. There can be a psychological upside too: some people decide to lead healthier lifestyles. Brin is currently funding Parkinson's research. And not all customers' results are as troubling as his. Nate Guy, 19, of Warrenton, Va., was relieved that though his uncle had died of prostate cancer, his own risk for the disease was about average. He even posted a video about it on YouTube. And unflattering findings can have a silver lining. "Now I have an excuse for not remembering things, because my memory is probably genetically flawed," Guy says.

Wojcicki and Avey see themselves not just as businesswomen but also as social entrepreneurs. With their customers' consent, they plan to amass everyone's genetic footprint in a giant database that can be mined for clues to which mutations make us susceptible to specific diseases and which drugs people are more likely to respond to. "You're donating your genetic information," says Wojcicki. "We could make great discoveries if we just had more information. We all carry this information, and if we bring it together and democratize it, we could really change health care."