Hoping to link illnesses to genetics and lifestyle, the federal government is exploring the possibility of recruiting a half-million Americans to contribute their DNA and health information to an ambitious national "biobank."
Some scientists consider the project a long shot, largely because billions of dollars are needed to fund it at a time when Congress is busy spending on other things. And before any such study is launched, they say, Americans need protection from genetic discrimination.
Despite those challenges, the National Institutes of Health is cautiously testing the waters this spring, holding town hall meetings and focus groups, interviewing community leaders and conducting a national survey of 4,000 Americans.
Scientists have long collected DNA from individual families with histories of deadly disease to find patterns in who lives and who dies. And countries such asGreat Britain and Estonia, along with Kaiser Permanente, the U.S. Department of Veterans Affairs and some other large health care providers, are beginning to compile health information and collect DNA from patients.
But a biobank of America's vast and diverse population would offer a far richer treasure trove of data. The size and variety of donations could help reveal now-hidden links between genes, lifestyles and the environment.
The push comes from National Human Genome Research Institute director Francis S. Collins, who led the government's
Bay Area experts agree that a biobank project is the logical next step in genetic research.
"It is an excellent project. I hope that we can convince the public of the importance of study like this," said David Haussler, director of the Center for Biomolecular Science and Engineering at the University of California, Santa Cruz. Haussler played a crucial role in the international Human Genome Project and has discussed "biobank" data analysis with federal scientists.
Since the historic sequencing of the human genome in 2000, scientists have been seeking the next step, said Stanford University bioethicist Hank Greely. "We've hit a bit of a brick wall," he said.
Small DNA studies prove that a single gene, when mutated, can trigger rare inherited disorders such as Huntington's disease, Greely and Haussler said.
But small studies don't work well for the study of common and complex disorders such as diabetes, cancer or heart disease, which are believed to be caused by defects in multiple genes, combined with factors such as diet, smoking or pollution, they said. In these diseases, each gene contributes just a small amount to overall risk, complicating efforts to isolate causes.
So scientists need to study many people to make meaningful discoveries.
"In a lot of diseases, we know there's a genetic connection but we're having a hell of a time trying to figure out what it is," Greely said. "It is hoped that big biobanks, by collecting hundreds of thousands of specimens, can tease out the small effects."
The biobank would be built by collecting blood or saliva across ethnicities and lifestyles. Donors would agree to turn over their medical records and describe their diets, exercise, workplace and other details.
Then, researchers could look for correlations mining the data for links between genes, lifestyle factors and illness, said Rick Borchelt of the Genetics and Public Policy Center at Johns Hopkins University, which has a $2 million contract to solicit public opinion about the study.
Participants probably would not be paid, so they would be asked to donate out of civic duty. And given the slow pace of science, there's no guarantee their contribution will lead to an improvement in their own lives.
The price is steep. Greely estimates it could cost $1,000 per person to interview and then sample, store and analyze their DNA. "There is not that kind of money lying around right now," he said.
A cheaper alternative, he said, would be for the nation's many smaller databases, such as that held by the U.S. Department of Veterans Affairs, to be opened up and made available for widespread study.
Similarly ambitious efforts have hit snags, Greely said. In Iceland, a planned database of the entire population by a private company, deCODE, led to litigation. Financing problems have caused the Estonian project to stall.
The most successful so far is the UK Biobank, which has a wealthy nongovernmental foundation to fund it.
Dealing with legal and ethical issues will be difficult, time-consuming, inconvenient and also expensive, experts warn.
In such richly detailed databases, the usual methods for protecting a donor's confidentiality may not work, Greely said. And he asked: What if a life-saving clue is learned shouldn't donors be contacted?
"Biobanks put important new wrinkles on concerns about privacy, genetic discrimination and benefit-sharing," said Marcy Darnovsky of the Center for Genetics and Society in Oakland. "These are complex issues that could wind up hurting people rather than helping them, if the biobank isn't done right."