Vast stores of tissue // Immense resources to understand disease // But yet the attitude: “a ship of consensus sailing on a sea of dissent”
Photograph by Sam Kaplan
Its nine million members make Kaiser Permanente a giant of American health care. They also put the health maintenance organization in a position to create one of the nation’s most expansive biological resources for medical research. Kaiser’s Research Program on Genes, Environment and Health houses one of the largest repositories of DNA samples in the United States, with samples from 200,000 patients. In the program’s 5,000-square-foot facility in Berkeley, Calif., there are freezers to hold blood and storage for extracted DNA and saliva kits. Sarah Rowell, associate director of the program, admits she only truly comprehended the enormity of this “biobank” when she stood in a warehouse jammed with letters inviting people to participate—the mailing filled a large room.
Because Kaiser keeps electronic medical records for all of its patients, researchers have access to detailed clinical information about the people whose blood or tissue they analyze. “The average length of membership of the biobank participants is more than 20 years,” Rowell says, which gives scientists the opportunity to link genetic information about someone to a long, rich clinical history. Another benefit is that Kaiser’s patient population is ethnically diverse, and researchers may be able to measure the impact of ethnicity on someone’s risk of developing specific diseases. Still another advantage, according to Rowell, is California’s extensive tracking of pollution and other environmental factors. “It’s kind of unbelievable how much information is available,” she says.
Kaiser is hardly alone in attempting to build potent resources for medical research. Institutions around the world are stockpiling tissue and data, and linking samples they collect with medical records. And Japan, Sweden and the United Kingdom are using their centralized health care systems to invest in biobanks on a national scale, amassing very broad collections.
Why invest in such resources? As one example, one of the findings to emerge from the Atherosclerosis Risk in Communities (ARIC) study, which began in 1987, was that 1 in 40 black subjects had a mutation in the gene PCSK9, which was associated with lower levels of LDL cholesterol (known to promote cardiovascular disease) and fewer heart problems over a 15-year period. That finding provided key evidence that PCSK9 is a good target for cholesterol-lowering drugs—and now PCSK9 inhibitors are making their way through clinical trials.
Researchers believe there are many more associations that could be discovered if they were able to sift through the DNA, tissue and medical information of vast numbers of people—populations large enough to give statistical power to observations such as that rare mutation in PCSK9. But unlike focused studies like ARIC, general DNA and tissue repositories can be used again and again for many purposes.
Big biobanks involve society in research on an unprecedented scale. Though you may never participate in a clinical trial or a research study, it’s likely you’ll be asked to contribute to a biobank in the coming years—if your blood or saliva isn’t already in one. Your DNA, for example, might be preserved indefinitely and used by researchers in ways that have yet to be invented.
It’s that prospect, among others, that is posing difficult questions about informed consent and privacy issues. Will people who agree to contribute to a biobank object if their biological material is used in ways they don’t sanction? The University of Arizona, for instance, recently had to pay damages to members of the Havasupai Indian tribe for using blood samples, originally donated for diabetes research, for studies on the genetics of mental illness. The later use violated the values of the tribe.
“You have on the one hand tremendous scientific interest, enthusiasm and investment in big biobanks,” says Timothy Caulfield, head of the Health Law and Science Policy Group at the University of Alberta in Edmonton. “But on the other hand, there are legal, social and ethical issues that haven’t been resolved.” Addressing those challenges may help redefine how patients get involved in research.