Personal Genomics: A Participatory Activity

DNA ribbonLast week the GLR covered deCODEme’s announcement that it was offering existing customers of its main competitor, 23andMe, the opportunity to have their genomic data interpreted by deCODEme’s own service. For free.

Although somewhat surprising from a short-term commercial perspective, I generally liked the move by deCODE as a means to improve the company’s genomic data interpretation abilities. Here’s what I wrote at the time:

If interpretation proves to be one of the key differentiators between DTC genomics companies, as expected, deCODE (and other companies) should embrace opportunities to hone their interpretative platforms now, while the DTC commercial market remains relatively small.

As both Peter Aldhous of New Scientist and Daniel MacArthur of Genetic Future have pointed out, it appears that there is some honing to be done on deCODEme’s end. From ancestry confusion to interpretative errors in evaluating Alzheimer’s risk, deCODEme’s first attempt at genomic data migration has been an imperfect one. Would deCODEme have preferred a seamless launch to their 23andMe data migration service? Of course. But if the experiment now pays off in smoother data migration and interpretation for the company in 2010 and beyond, these first bumps in the road will soon be forgotten.

While DTC companies continue to hone their genomics services, what is the personal genomics consumer to do? Daniel MacArthur provides some good advice:

This is your genetic data, and you deserve an accurate interpretation – but in these early, chaotic days of the personal genomic industry, that means playing an active role in interpretation yourself.

MacArthur is right, but his point can go a step further. While genomic data interpretation will inevitably improve, the importance of individual involvement in that process is unlikely to diminish. As Thomas Goetz, executive editor of Wired Magazine and author of The Decision Tree regularly points out, individuals who take an active interest in monitoring and understanding their health tend to improve their health. Why should personal genomics be any different?

There is no shortage of commentators who believe that 2010 will be the year when sequencing becomes routine, perhaps to the point of the $1,000 genome. However, even as the cost of generating a personal genome sequence continues to decline – to $1,000, $100 or even $0 – its value will remain limited by the interpretation that can be brought to bear on that data. And that interpretation, in turn, will be limited by the willingness of patients or consumers to engage actively with their genomes by treating the information as only one part of a larger body of personal health information. No company or healthcare provider will ever completely capture or perfectly interpret all of that information, which is why the need for individual engagement will never disappear. Or, as Goetz puts it in a recent column on The Huffington Post, “personalized medicine isn’t something that happens to us; it’s something that we have to choose to engage in.” Personal genomics, just like personal medicine, is and will continue to be a participatory activity.

Finally. since we are looking forward to 2010 in this post, it seems appropriate to pause and take note of the calendar. Barring a development of unexpected significance, this will be GLR’s last article of 2009. Thank you to all of our readers and contributors for helping to make our 2009 such a success. We wish all of you Happy Holidays, and we look forward to a successful – and engaging – 2010.