Update: In the comments below, SNPedia co-founder Michael Cariaso notes that Duncan has already lost his crown to the anonymous European NA07022, recently sequenced by Complete Genomics, who weighs in with 5891 associations to Duncan’s 5321. Records don’t last long in the age of high-throughput genomics!
Author David Ewing Duncan now officially has the most annotated genome of any human being
; but given that the majority of those annotations are wrong and most of 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, prior to the advent of modern, robust genome-wide association studies. 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.
(Added in edit: In hindsight the paragraph above could be read as a criticism of SNPedia, which it isn’t – SNPedia simply provides a catalogue of the genetic associations in the literature along with links to the relevant papers, and it’s up to the user to decide what standards of evidence to apply in deciding whether or not an association is useful. So just to be clear – the emotive language in the paragraph is aimed towards the appallingly high levels of false positives in published genetic association studies and not towards SNPedia’s decision to list them.)
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.