In the United States, public opposition has already scuttled at least one venture. Boston University, which runs the famous Framingham Heart Study, recently founded Framingham Genomic Medicine, a privately owned company (see “Medical Records, Inc.,” TR July/August 2000); the plan was to generate a database linking 52 years’ worth of meticulously detailed medical records from the Framingham Heart Study to genotype data, which the Framingham researchers began collecting in the late 1980s. The company then hoped to market access to the database as a resource to pharmaceutical companies and other academics. In December 2000, however, the university decided to kill the company when it couldn’t make headway on the ethical issues-in particular, the fact that the study was funded over the decades by the federal government, and academics had always had access to the information free-of-charge.Next to the tangled ethical issues, the scientific controversy is straightforward: a debate between optimists and pessimists, with the bulk of the community falling somewhere in between. The pessimists argue that the genetic nature of chronic diseases-whether asthma, heart disease or diabetes-is unlikely to be simple enough for association studies to elucidate. And if the number of genes is large, and the effect of each gene is small, or if multiple genes confer similar traits-say, resistance to heart disease or cancer-then the studies are likely to turn up little or nothing real, or, at least, nothing real and useful.
The optimists, on the other hand, are betting that two or three or a handful of genes play a large enough role in many chronic diseases that the research will find them. Even optimists, however, recognize that for population studies to find disease-causing genes, the number of genes responsible for susceptibility to any particular common disease must be relatively low. (Though where there’s only one, the family studies to date should have unearthed it.) How many more than one is the question. “There is a lot of room between one and infinity,” says Stanford’s Risch.
And the farther from one the answer lies, the less successful these association studies will be. As Risch points out, the only way to find out which side is right is to do the scientific research on which genomics companies are betting. “I don’t know what else we can do in terms of human genetics to try to find genes for common diseases,” says Risch. “Most people believe there’s a genetic component to these diseases. If it turns out to be too many genes, and the effects are too modest, that will kill it. But there’s no way to know right now, and I don’t see any reason not to be optimistic. This has not played out at all, not by any stretch of the imagination.”