January 27, 2013
Using only publicly available online information, a team of researchers from the Whitehead Institute showed that it is possible to discern the identities of people who have submitted personal genetic information to scientific studies, even when that information is supposedly stored anonymously. The findings were published in the journal Science.
“This is an important result that points out the potential for breaches of privacy in genomics studies,” says Whitehead Fellow Yaniv Erlich said.
The study was performed in the spirit of “vulnerability research” studies, in which experts assess the security of data by attempting to break through the measures put in place to protect it. In the current study, it was not even necessary for the researchers to hack into any servers or crack any codes: all the information was freely available for the taking.
The researchers began by analyzing the Y-chromosomes of people who had participated in the 1,000 Genomes Project at the Center for the Study of Human Polymorphism, because the entire genomes of all participants had been sequenced and made publicly available. Taking advantage of the fact that the Y-chromosome is inherited only from the father, the researchers analyzed the men’s Y-chromosomes for unique genetic markers known as short tandem repeats (Y-STR).