George Church, a sequencing pioneer at Harvard Medical School, says cost is the key. As their prices fall in the next few years, he says, these machines will become a democratizing force that will make traditional sequencers all but obsolete, much the way personal computers displaced mainframes. And this will lead to applications that no one can yet fathom. “If we were still working with mainframes, a lot of cool stuff wouldn’t be happening,” he says.
Church, who was among the dozen researchers to propose the Human Genome Project in the mid-1980s, is one of the few biologists whose lab equipment includes a table-mounted vise grip and a drill press. He uses equipment like this to build his own next-generation sequencers, of which his lab currently has eight (see TR35, September/October 2006 ). Convinced that companies are overcharging for their machines, he makes a point of freely sharing his know-how with any interested colleagues. He compares his philosophy to the “wiki and Linux mentality,” saying, “If a bunch of ants get together, they can move a rubber-tree plant.”
Church’s grand vision is to channel the cheap flood of As, Cs, Ts, and Gs into what he calls the Personal Genome Project. In the Human Genome Project, researchers obtained DNA from several people, each of whom, for privacy reasons, remains anonymous. So the final sequence represents a composite person with a conglomerate of different genetic backgrounds and medical histories. Church wants his Personal Genome Project to decode the DNA of individuals, who will also volunteer their medical records. He will post all the resulting data on the Internet. Ultimately, he imagines, millions of people will join the project, posting their sequences, medical records, and, if they choose, even facial photographs online. The entire world will then have access to all the data it needs to freely test hypotheses.
Although Church has received substantial funding from the National Institutes of Health to develop sequencing technology, the ethical, legal, and social questions raised by the personal Genome Project have kept NIH from supporting it, despite a positive review of a grant application in August 2005. “As soon as I got approval, NIH got all excited, and not necessarily in a good way,” he says. He’s attempted to address the privacy and confidentiality issues, noting that no one’s identity needs to be made public and that NIH already funds human genetics projects that have fewer safeguards in place.
Church recognizes that intimate knowledge of their own DNA might be too much for many people. “You don’t let your kids browse to Internet pornography sites,” he says, “and to some extent you don’t allow yourself to browse the scariest, grossest sites.” He expects that rather than accessing their raw genomes, people will have professionals help them interpret the information.
Despite the lack of federal funding and the ethical objections, Church is proceeding, confident that advances in sequencing technology will drive the idea of a Personal Genome Project forward–just as advances in information technology have led strangers to share data in ways that no one dreamed of when the dual-floppy-drive Apple II debuted 30 years ago. As sequencers become more efficient, he believes, and costs continue to drop, personal genomics will take off on a scale that few people have yet imagined.