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The world's most annotated man [Genetic Future]

Author David Ewing Duncan now officially has the most annotated genome of any human being; but given that the vast majority of those annotations are wrong and the remainder only weakly predictive, he's also a powerful illustration of how far we still have to go before the era of personal genomics comes to fruition.

Duncan isn't the person with the largest portion of his genome sequenced (Craig Venter, Jim Watson and Seong-Jin Kim are the named individuals currently competing for that honour), but he has so far cast his net the most widely in examining the potential functional information within his DNA. His 5,321 current associations come courtesy of SNPedia, a public database of genetic associations maintained by Michael Cariaso.

The majority of those associations, unfortunately, are pure noise - the detritus left behind by the noxious wave of false positives that was the era of the candidate gene association study. Of the relative minority that are likely to be genuine, most are common variants with very small effects on disease risk and thus extremely limited predictive value. Wading through the sheer mass of loosely annotated data in Duncan's SNPedia report provides sharp insight into the challenges of navigating large-scale genetic data.

It's clear that consumers will need tremendous guidance in that navigation - but it's still unclear exactly who will be the best at providing that guidance. The medical establishment certainly wants you to think that they are the only qualified providers, but upstart private personal genomics companies like 23andMe are giving clinicians a run for their money, and crowd-sourced efforts such as SNPedia remain a wild card.

In the meantime, Duncan isn't resting on his laurels - he says he plans to have his entire genome sequenced "soon" as part of a broader process of self-exploration. It's worth keeping an eye on Duncan as the model of an extremely enthusiastic early adopter of personal genomic technologies - the obstacles to understanding his genetic information will soon be things that the rest of us need to wrestle with as well.


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