Cold Spring Harbor, New York—The Human Genome Project will eventually allow individuals to determine their genetic risk factors for a variety of diseases, but are people ready to handle this information? The National Human Genome Research Institute (NHGRI) aims to find out by embarking on a controversial study that will test individuals' reactions to the potentially life-altering data hidden in their genetic code.
The project, dubbed clinENCODE and announced at the Biology of Genomes meeting here last week by NHGRI's Eric Green, will involve sequencing a portion of DNA from 400 seemingly healthy volunteers to discern each person's unique genetic risk factors for disease. The volunteers will also undergo a battery of physiological tests, including blood pressure measurements and white blood cell counts. Green's team plans to report back any variations spotted, including ones that may explain a person's current health status or ones known to influence the risk of a future medical condition.
It's not clear how people will react to such results. Previous studies involving genetic testing for specific diseases have suggested that people can handle bad health news. Still, the prospect of knowing about one's genes and the disease risks they confer can conjure up fears of discrimination from employers and insurance companies.
Many genome scientists argue that clinENCODE is not the best way to explore the future of personalized medicine. "There are so many genes whose function and link to disease is unknown that the information we are going to give is of dubious nature" and may overwhelm the participants, says Kelly Frazer, a genomicist at Perlegen Sciences in Mountain View, California. If the chief goal is to test how the public reacts to personalized genome information, then why not simply develop questionnaires or present mock sequencing results rather than incur the expense of sequencing, she and others wonder.
But even if the study provides little biomedical data, it will still be worthwhile, contends Robert Waterston, a geneticist at the University of Washington, Seattle. "We have to understand what the issues [of personalized medicine] are," he says. "[The study] begins to challenge us to think about these things."