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Should you trust a genome scan?

(Newsweek reporter Mary Carmichael has a DNA dilemma: should she buy a direct-to-consumer genetic test? To help answer that question, she’s recruited people with expertise in various areas related to personal genomics – and a diverse range of opinions about the industry – to address specific areas of concern. At the end of the week she’ll announce her decision.

This post is my response to one of Mary’s questions: How does she know if she can trust the results, and should she be scared of what she might find out? A summary is also posted on the Newsweek website along with answers from Thomas Goetz, Hank Greely, Robert Green and Misha Angrist.

Genomes Unzipped is well-represented in Mary’s project: Jeff BarrettĀ wrote about risk predictions yesterday, and tomorrow our resident legal expert Dan Vorhaus will be discussing the present and future state of regulation of the DTC genetic industry.)

The results you receive from genetic testing companies rely on two critical steps: firstly, the generation of your raw genetic data; and secondly, the interpretation of that data into information about your ancestry, family and disease risk.

For reputable genetic testing companies – and I would count the four major personal genomics companies (23andMe, deCODEme, Navigenics and Pathway Genomics) in this category – the first step is generally extremely accurate. These companies rely on the same technology used by academic researchers studying the genetic basis of human disease, applied in carefully quality-controlled labs, so their error rate is typically very low. As an illustration, I recently had an opportunity to compare the raw genetic data provided by two companies to Times journalist Mark Henderson, and found an error rate per company of around one in every 14,000 data points: that’s far better than most routine clinical tests.
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