NewsBREAKTHROUGH OF THE YEAR

It's All About Me

Science  21 Dec 2007:
Vol. 318, Issue 5858, pp. 1843
DOI: 10.1126/science.318.5858.1843

Along with the flood of discoveries in human genetics, 2007 saw the birth of a new industry: personal genomics. But researchers worry that these services open up a Pandora's box of ethical issues.

Along with the flood of discoveries in human genetics, 2007 saw the birth of a new industry: personal genomics. Depending on your budget, you can either buy a rough scan of your genome or have the whole thing sequenced. The companies say the information will help customers learn about themselves and improve their health. But researchers worry that these services open up a Pandora's box of ethical issues.

See Web links on personal genomics

At $300,000 to $1 million per genome, sequencing all 3 billion base pairs is still too costly for all but a few. Although dozens more personal genomes will probably be sequenced in the coming year, most will be done by public and private research organizations—including the institute run by genome maverick J. Craig Venter, whose personal genome was one of three completed in 2007 in the United States and China. In a lower-budget effort, Harvard's George Church this month will deliver initial DNA sequences for the protein-coding sections (1% of the genome) to the first 10 volunteers for his Personal Genome Project. Meanwhile, a new company called Knome is offering full-genome sequencing to 20 customers willing to pay $350,000.

A glimpse of one's genome is already within the reach of ordinary people, thanks to several companies. They include 23andMe, which has financing from Google and may let users link to others with shared traits; Navigenics, which will screen for about 20 medical conditions; and deCODE Genetics in Iceland, a pioneer in disease gene hunting. For $1000 to $2500, these companies will have consumers send in a saliva sample or cheek swab, then use “SNP chips” to scan their DNA for as many as 1 million markers. The companies will then match the results with the latest publications on traits, common diseases, and ancestry.

Although many customers may view this exercise as a way to learn fun facts about themselves—recreational genomics, some call it—bioethicists are wary. Most common disease markers identified so far raise risks only slightly, but they could cause needless worry. At the same time, some people may be terrified to learn they have a relatively high risk for an incurable disease such as Alzheimer's.

Pandora's box?

This cheek-swab kit could reveal your intimate secrets.

CREDIT: COURTESY OF 23ANDME

The rush toward personal genome sequences also sharpens long-held worries about discrimination. A bill to prevent insurers and employers from misusing genetic data is stalled in Congress. Complicating matters, your genetic information exposes your relatives' DNA, too.

The most profound implications of having one's genome analyzed may not be what it reveals now—which isn't much—but what it may show later on. Perhaps to sidestep such questions, some companies will limit which markers to disclose. Others, however, will hand customers their entire genetic identity, along with all the secrets it may hold.

See Web links on personal genomics

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