Researchers who have assembled a trove of genetic and medical data on 100,000 northern Californians unveiled their initial findings here this week at the annual meeting of the American Society of Human Genetics (ASHG). The effort, which may be the largest such "biobank" in the United States, has already yielded an intriguing connection between mortality and telomeres, the protective DNA sequences that cap chromosome ends, and found new links between genetic variants and disease traits. And that's just the beginning, say the biobank's curators at Kaiser Permanente (KP), the giant health care organization.
The KP biobank, which will draw on a variety of anonymized data drawn from patients' medical records—from medications to brain images—is also open to outside researchers. "This is obviously a very rich set of data that we want to be widely used," Schaefer says. Her team will deposit a data set in dbGaP, an NIH database for sharing SNPs data sets. Researchers can also apply to collaborate with the Kaiser Permanente team. Exactly how it will be used will be "up to the creativity and ingenuity of lots of people," Risch says. For example, researchers could use geographical databases on air pollution to look for links between illness and pollution. The biobank may also grow—a total of 200,000 KP members have donated biological samples and 430,000 have filled out a survey saying they're interested in participating.
"It's great. They have a huge data set," says Aravinda Chakravarti, a human geneticist at Johns Hopkins University in Baltimore, Maryland, who is already discussing collaboration with KP. However, he expressed reservations about the general push to link genes to diseases—at the ASHG meeting, many talks discussed efforts to sequence part or all of peoples' genomes to uncover rarer disease genes than SNP studies can find. "The problem in our field is that we're making lists" of disease genes, Chakravarti says. Like some others, he would like to see more emphasis on understanding the biology of how those genes function and cause illness.
Via Dr. Stefan Gruenwald