Recent advances in human genome analysis require "a complete rethinking of human genetics," genetic pioneer J. Craig Venter told the crowd at the Web 2.0 Summit on Friday.
Not only is Venter's research outfit, the Venter Institute, working on sequencing the genetic code of 10,000 subjects over the next several years, but several recent studies have shown that the genetic variation among individuals is much higher than previously realized.
Last month, Venter and colleagues published a study in the open access scientific journal Public Library of Science (PLoS) Biology that for the first time revealed the full diploid genome (i.e., covering both pairs of chromosomes) from one individual -- Venter himself. The analysis revealed that the variation in the genetic sequence of Venter's parents was much higher than expected -- 0.5% as opposed to the 0.1% found in earlier analyses. During his presentation, Venter said the total variation among people's genetic code might be has high as 1% to 2%.
"At the end of 2001, we thought all the differences were [contained in] just a few point mutations," Venter told his interlocutor, Web 2.0 Summit co-chair Tim O'Reilly. "Now we know it's much more complex."
Venter's September study confirmed the thesis in several scientific papers over the last few years, that original estimates of genetic variability were vastly underestimated. The new discoveries have implications for the study of evolution as well as for work on decoding the human genome and relating it to individual characteristics, including disease risks.
Before the release of Venter's genome, which now resides on the Web, two other versions of the human genome had been assembled, both published in 2001. One was produced by Venter and his colleagues at Celera Genomics, the other by a consortium of U.S. government researchers and other scientists. Rather than genomes of a single individual, both were mosaics of DNA sequences collected from various donors.
"Both versions greatly underestimated human genetic diversity," according to a statement from the Venter Institute announcing the more recent findings.
The work of Venter and other genetic researchers, including Drew Endy of MIT, is fueling the creation of an entire industry built around individual genetic codes. Venter is leading work to develop the controversial field of "synthetic biology," aimed at developing artificial genes in the laboratory. Friday, he said he and his colleagues are less than a year away from synthesizing a living cell.
"We start with the digital information and remake the analog genetic code in the form of DNA and then boot up a living system," Venter said. "We're learning how to design life."
Many observers have expressed reservations, and even abhorrence, at that prospect -- pointing out that the power to create new biological agents could fall into the hands of terrorist, for example -- but Venter has been dismissive of such critics.
"Fortunately there's not that many people on the planet with that kind of intent," he told O'Reilly.
Earlier this year Anne Wojcicki, a former health care investment analyst and the wife of Google co-founder Sergey Brin, founded 23andMe, a startup that is "building on recent advances in DNA analysis technologies to enable broad, secure, and private access to trustworthy and accurate individual genetic information," according to the company Web site. Named for the 23 paired chromosomes in human DNA, the company has attracted $10 million in Silicon Valley venture funding, including $3.9 million from Google.
"What used to cost billions now costs only $1,000," wrote Martin Varsavsky, the founder of Wi-Fi access provider Fon and an investor in 23andMe, on his blog recently. "So for the price of a laptop you can now learn the most intimate details of your genetic self."
That's an understatement: Venter said that sequencing his own genome cost around $70 million, and that with recent advancements the cost is now around $300,000. He thinks it will be less than $100,000 within the next few years. At that price many thousands of people are likely to pay to have their genetic code analyzed -- and, maybe, published on the Web.
Asked if he thought people would end up Googling the genome of prospective mates before they start dating, Venter said, "I think that'd be a very smart thing to do, especially if you plan to have kids."