The payoff from “interoperable” genomes will be faster research on the links between DNA and disease, scientists say. Researchers will be able to validate suspected links between genetic makeup and drug reactions or overall health by conducting much larger studies in which many people’s genomes are compared. And physicians and individuals will be able to use standardized methods of reporting a person’s genetic risks and advantages. That will matter as more and more ordinary people have their DNA decoded.
Another major initiative comes from Sage Bionetworks, a Seattle-based nonprofit cofounded by Schadt and Sage director Stephen Friend, formerly the leader of Merck’s advanced technologies and oncology groups. Sage has raised $20 million to support a movement among biologists, computer scientists, patient advocacy groups, and businesses to standardize DNA databases that have sprung up over the years. “This won’t happen overnight,” says Schadt. “But it will be huge, like the Internet.”
At some companies, efforts are under way to build an IT infrastructure capable of pooling and interpreting whole genomes on a larger scale. Jorge Conde, the CEO of Knome, a company in Cambridge, Massachusetts, that sells whole-genome sequencing as a service and uses a team of PhDs in India to analyze the results, says more drug companies now want to use full genomes to understand why drugs work or have side effects in some people and not others. “As the price has dropped, we are getting more interest from pharma and biotech companies,” says Conde. Knome’s price for its sequencing and analytical service has dropped from $350,000 in 2007 to under $10,000 today.
One of Knome’s more recent ideas, still at an early stage, is to get drug companies to share genomes they have had decoded. The company has launched a cloud-based service called kGAP that would let customers process several hundred genomes at one time, studying them for the presence of 200,000 known links between DNA markers and genotypes for disease and other traits. The technology is still oriented toward facilitating big research projects, but eventually such engines might be used to compare an individual’s genome with thousands of others and spit out personalized health tips and diagnoses. “The big play is when this information is available to be used by health-care providers and patients,” says Conde. “But that’s still several years away.”