Scientists from research and health-care groups including Harvard University and the U.S. National Institutes of Health are trying to create a way to standardize and share genetic information before the DNA-scanning field develops into a balkanized mess.
The effort would harmonize data valuable to researchers and medical workers by creating technical, ethical and privacy standards. The group wants to help create a format that would let genetic information be used across institutions, rather than be stuck in closed systems as it is now.
Gene-sequencing costs have fallen rapidly and may soon approach $1,000 to code a person’s entire DNA. The analyses can help diagnose and develop treatment for cancers, rare disease and other conditions with a basis in genetics. It is projected that more than 1 million people will have their genomes scanned in a few years, said David Altshuler, a geneticist at the Broad Institute, a research group affiliated with Harvard and the Massachusetts Institute of Technology.
“We are not organized to seize this extraordinary opportunity -- nor are we on a path to do so,” the group said in a June 3 report.
If the information is shared widely, genome data “have the potential to teach us a lot about the basis of cancer, inherited disease and how to direct therapy,” said Altshuler, who was on the group’s organizing committee. “Right now there doesn’t exist frameworks -- both technical and in terms of protecting privacy -- about how to exchange information.”
The collaboration is seeking to figure out how to share genome data broadly while protecting patient privacy, he said.
About 70 groups signed a nonbinding letter of intent urging a path forward. The group also includes the American Society for Clinical Oncology, Memorial Sloan-Kettering Cancer Center in New York and other universities and research hospitals. Researchers plan to ask for-profit and nonprofit groups to join the initiative. The report didn’t provide details of how the effort would be funded.
The alliance called for a global regulations and standards for the sharing of information, as well as a way to address privacy issues. It compared the undertaking to the development of the Internet and the Human Genome Project’s open-source effort to first decode all of the body’s genes.
Breakthroughs based on genetics will need large samples of data. Without an easy way to share that information, research will be limited because of small sample sizes, the group said. “There are so many diseases and so many different mutations, you are not going to learn it from one person, it is going to take a million,” Altshuler said.
Sharing can’t happen without common technical standards for volumes of data. “In the absence of an open and interoperable solution, closed, proprietary systems will by necessity be created,” the group said in the report. “This would create a fundamental barrier to gaining the benefits of data aggregation and slow the understanding, diagnosis and treatment of disease.”
The group compared the current state of genetic data to electronic health records being installed by hospitals and doctors’ offices across the U.S., an effort that has suffered from in compatibility problems as the industry tries to find a single standard.
“If we remain on the current path, the likely outcome will be a hodge-podge of balkanized systems -- as developed in the U.S. for electronic medical records -- a system that inhibits learning and improving health care,” the group said.
In cancer, a database of DNA information from hundreds of thousands of tumor samples from many institutions linked to patient treatments and outcomes, would help researchers develop precision treatments customized according a tumor’s genetic profile, far faster than if each institution worked on its own, said Charles Sawyers, who heads the human oncology and pathogenesis program at Memorial Sloan-Kettering Cancer Center, and is an organizer of the data-sharing alliance.
If researchers don’t come together with a plan for how to share the genetic data, “there is this fear that commercialized silos of DNA data would be created that would preclude open sharing,” Sawyers said in a phone interview.
The DNA sharing project has “a utopian goal, but one that is hard to argue against,” he said. “Can we pull it off? That is a question I can’t answer.”
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