"Today we are learning the language with which God created life." President Bill Clinton made this remark on the White House lawn on June 2000 to recognize the decoding of the first human genome. As much as anything else, rapid DNA sequencing technology created in large part by geneticist Craig Venter and his colleagues galvanized the research community into finishing the project faster than originally expected. More than 11 years later, however, gene sequencing technology has failed to deliver on its promise to revolutionize preventative medicine, and Venter is not happy about it.
The idea was that gene sequencing would become so cheap—on the order of $1,000—that ordinary people could afford to have their individual genomes sequenced, which their family doctors would use to diagnose their predisposition for disease. Costs have fallen to about $4000, but the bigger problem is that results are often rife with errors. “If [the technology] is going to achieve the level of really impacting medicine the way I’ve always envisioned that it could, it has to become far more accurate.”
To goose developers along, Venter—along with the X-Prize Foundation and Medco Health Systems, a health care firm—has put a bounty on the achievement: $10 million to the first team that can meet a standard for accuracy that Venter calls “medical grade.” The task is to sequence the genomes of 100 centenarians, providing a baseline to which other genomes can be compared. Venter talked with Scientific American by phone about the award and his hopes for new technologies. Excerpts:
Scientific American: How did the idea for this prize come about?
Venter: This prize started out as a half million dollar prize out of the Venter Institute, in part after I sequenced the first version of the human genome. All the analysts and pundits were saying that genome sequencing was dead, there’s no use for it anymore—the human genome has been sequenced. To change that attitude, we started a prize to encourage development of new technology, to get [costs] down to a $1000 or less [per genome].
I was contacted by Larry Page and Peter Diamandis of the X Prize to see if we were interested in merging the Venter Prize with the X Prize. We did that and upped the ante to $10 million, which is significant.
Why is a prize necessary?
The technology is changing pretty rapidly, which is a good thing. But right now there’s no technology out there that meets the standards that we’ve set. If genome sequencing is going to have true medical impact, it needs to get up to [a higher] diagnostic quality level. And we’re a long way from that. So this announcement is a whole new set of guidelines and standards. We’re also working with the FDA trying to have our standards become their standards for sequencing. The fact that Medco has come in as a major sponsor shows that major medical enterprises are starting to recognize the future medical impact of this technology.
So the idea is to give the technology a little extra push?
It’s helpful to drive the technology forward. The cost is coming down, but one thing that hasn’t substantially changed is the completeness and accuracy. You can buy any two company’s machines right now, and if we sequencing a genome with two different technologies we’d get two different answers. That’s not good for diagnostic sequencing. Each technology has its own inherent errors. If [the technology] is going to achieve the level of really impacting medicine the way I’ve always envisioned that it could, it has to become far more accurate.