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[【学科前沿】] 1000美元测序比较你的DNA?

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发表于 2007-12-2 07:21:58 | 显示全部楼层 |阅读模式
November 16, 2007, 7:57 am
Decode Me? Personal DNA Sleuthing on a Q-tip
Posted by Ron Winslow
James Watson, co-discoverer of DNA’s double helix, and Craig Venter, who helped unravel the human genome, have copies of their own personal genomes. Now Iceland-based deCode Genetics is offering the rest of us the next best thing: a chance to compare our genomes against the some of the scientific literature’s genetic discoveries.

Beginning today, $985 and a swab of goo from the inside of your cheek can get you a catalog of personal genetic variations that shed light on your ancestors and that research has associated with heightened risk of–or protection from–dozens of diseases. (See the announcement here.)

For now, the genetic assay is mainly a conversation starter. “This is a service,” Kari Stefansson, deCode’s CEO, told the Health Blog. “We are not offering a validated test.” In other words, deCode isn’t making any claims that the results will absolutely predict your risk of getting any disease. Instead, the company is checking your DNA against some noteworthy variations reported in the scientific literature. After that, it’s up to you and your doctor to sort it out.

The results will let people learn “who they are, where they come from and whether they’re at risk for a disease so they can do something about it,” Stefansson explained. Consumers will get their results with their own password-controlled access to an account on the company’s Web site.

Today’s debut of deCODEme, as the test is called, puts deCode ahead of two upstart Silicon Valley startups – Navigenics and 23andme – that, as the WSJ recently reported, plan to launch similar direct-to-consumer genetic tests soon. Navigenics’ test, for instance, will initially offer customers risk analysis for some 20 different diseases based on gene tests it says are sufficiently validated for the task.

Plans to market such tests are provoking concern among some experts who worry among other things that neither consumers nor their physicians know how to interpret the results.

Stefansson, whose company recently began selling genetics tests that assess risk for heart attack, diabetes and a heart-rhythm abnormality called atrial fibrillation, said consumers should have access to their own genomic data and that they don’t “need their hands held” to understand it.

“This could be looked at as a very big step in the direction of disease and health awareness,” he said. Learning what your genes tell you about yourself is consistent with people taking more control over their lives and their health, he added.

He also said deCODEme is intended to bring some adventure and playfulness to the use of personal genetic information. Consumers will want to compare and discuss their results with friends, he says, even as they see where they stand genetically speaking in relation to what has been published in the scientific literature.

Question of the Day: Would you be willing to pay almost a grand to know what your genes say about your health and ancestry? Would you swap the info with friends and relatives?
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