Thursday, November 5, 2009

Company sequences whole human genome for $1,700. Fellow Americans, let us sequence our national genome.

Well, I admit it upfront that it is another case of media exaggeration.

Reuters just ran a story with a catchy title "Company sequences whole human genome for $1,700". Sounds incredible, doesn't it? Especially because just a few years ago we spent hundreds of millions, if not billions, of dollars to sequence the first human genome. So what's the catch?

Well, I thought reading the article will explain it all. It did not. The best it offers is that a privately held company Complete Genomics says it can do a "usable genome map for about $4,400". So we all agree that whatever we get for $1,700 is useless. Still there is big difference between the 'usable genome map' and 'complete genome sequence'. Perhaps as much difference as exists between 'the physical map of the world showing the continents and geographic features' and a 'High resolution satellite map of the world showing individual streets and corners'.

A visit to Complete Genomics' website reveals that their claims are honest. In a recent issue of the prestigious journal Science, the company published three genomes sequenced by a novel method. The article entitled, "Human Genome Sequencing Using Unchained Base Reads on Self‐Assembling DNA Nanoarrays" is definitely scientifically and technologically a great step forward. But commercially, what are we getting and at what cost? A related press release on the company website elaborates, "The consumables cost for these three genomes sequenced on the proof-of-principle genomic DNA nanoarrays ranged from $8,005 for 87% coverage to $1,726 for 45% coverage for the samples described in this report."

Now we are getting somewhere. So it does not include the cost of equipment, facilities and personnel, etc. After adding all that the most optimistic cost estimate may be closer to reasonable $100,000. A lot for an average american, but not too much for Complete Genomics that just secured $45M in venture financing and might be currently looking as much for sequencing next 100 genomes as for an IPO exit strategy making use of all the media attention.

So what is all this fuss about. Of course, it is about reducing the cost of genome sequencing so that one day it becomes a diagnostic tool to identify each individual's genetic Achille's heel(s). This would change how we would treat diseases, how treatment would be personalized, and how preventive therapies will be done way before the onset of the disease.

But till we get there, for now it is all about the bragging rights and raising more capital. Intrestingly, every sequencing company has to now advertise a more outrageously discounted cost just so that they can be heard above the noise.

A big carrot in the corner is a $10M X-prize offered by Archon to the winner of a major sequencing milestone . The recent post on their website boasts A $10 MILLION PRIZE FOR THE FIRST TEAM TO SUCCESSFULLY SEQUENCE 100 HUMAN GENOMES IN 10 DAYS . Seems like a challenging task. More so, considering that the goal of the contest was only '10 human genomes' just a few months ago.

I do not know at what point this elastic will break. For now we are stretching it thin with contenders claiming lower costs at one end and visionaries raising the bar higher on the other. I say, that if it indeed is so cheap, let us give $2000 tax rebate to every american and have our national genome sequenced. Let us do it before the elastic snaps and the ends are free.

-Vivek for Connotia (http://www.connotia.com/)

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