Bringing Order to Potential Confusion of Gene Data

Drew Armstrong & Robert Langreth | Bloomberg | June 5, 2013

Scientists from research and health-care groups including Harvard University and the U.S. National Institutes of Health [NIH] are trying to create a way to standardize and share genetic information before the DNA-scanning field develops into a balkanized mess.

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.

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.

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.”