George Church in his Personal Genomics Project picture with a ruler to measure facial features. Credit: G. CHURCH

George Church, of Harvard Medical School in Boston, Massachusetts, is working on a project that he thinks could change the landscapes of both genomics and medicine. His Personal Genome Project aims to integrate data for genomics, environment and phenotype in more than 100,000 volunteers.

Perhaps the biggest issue for the project is how to acquire informed consent from so many participants, who will have their data become publicly available. This is something that Church hopes the Personal Genome Project will be able to address. He comments that some researchers think that this level of scale-up is not compatible with the current rules of informed consent.

From the start, participants will need to know what they are volunteering to do. “We are trying to emphasize to participants that rich holistic genetic and trait data are going to be obtained,” says Church. Therefore, he says, participants must be aware of the risks and benefits of modern genetics and of the fact that modern digital information has various ways to get into the public domain.

To make certain that everyone involved clearly understands these points, the project will establish an online educational system targeted to these topics. All participants will need to pass a test to see how well they understand them. After this education and evaluation, the project will allocate participants 'set points', which will determine how much information should be released to them.

Additionally, Church says, participants will have access to data only for validated genes for which we know something about their action or disease risks or for which treatment is possible. Although that list is short now, he expects that it will grow quickly.

Still, some researchers are concerned about the risks of providing patients with genetic data. “I think there is a danger with a lot of the new and best technologies that it is tempting to provide sequence information to patients before the biological implications of those data are known,” warns Bert Vogelstein of Johns Hopkins University in Baltimore, Maryland.

In August 2005 the project received approval from Harvard Medical School's institutional review board to start enrolling its first ten participants. The criteria were stringent: participants had to have at least a master's-level education in genetics or an equivalent understanding of genetics research. Church and others involved in the field were among the first to volunteer because they were thought to be the best informed to give consent.

Church thinks that now is the time to resolve the issues of informed consent because the technology has arrived to make personal genome sequencing a reality. He points out that companies such as 23andMe in Mountain View, California, and DNAdirect in San Francisco, either already offer personal genetic testing services or plan to in the future. “We have to get this in place before everything just goes crazy,” says Church.