Personal information securityPersonal genetic information vulnerable to hacking

Using only a computer, an Internet connection, and publicly accessible online resources, a team of Whitehead Institute researchers has been able to identify nearly fifty individuals who had submitted personal genetic material as participants in genomic studies.

A Whitehead Institute release reports that the team, intent on conducting an exercise in “vulnerability research” — common practice in the field of information security — took a multi-step approach to prove that under certain circumstances, the full names and identities of genomic research participants can be determined, even when their genetic information is held in databases in de-identified form

“This is an important result that points out the potential for breaches of privacy in genomics studies,” says Whitehead Fellow Yaniv Erlich, who led the research team. A description of the group’s work is published in this week’s Science magazine.

Erlich and colleagues began by analyzing unique genetic markers known as short tandem repeats on the Y chromosomes (Y-STRs) of men whose genetic material was collected by the Center for the Study of Human Polymorphisms (CEPH) and whose genomes were sequenced and made publicly available as part of the 1000 Genomes Project. Because the Y chromosome is transmitted from father to son, as are family surnames, there is a strong correlation between surnames and the DNA on the Y chromosome.

Recognizing this correlation, genealogists and genetic genealogy companies have established publicly accessible databases that house Y-STR data by surname. In a process known as “surname inference,” the Erlich team was able to discover the family names of the men by submitting their Y-STRs to these databases. With surnames in hand, the team queried other information sources, including Internet record search engines, obituaries, genealogical websites, and public demographic data from the National Institute of General Medical Sciences (NIGMS) Human Genetic Cell Repository at New Jersey’s Coriell Institute, to identify nearly fifty men and women in the United States who were CEPH participants.

The release notes that previous studies have contemplated the possibility of genetic identification by matching the DNA of a single person, assuming the person’s DNA were cataloged in two separate databases. This work, however, exploits data between distant paternally-related individuals. As a result, the team notes that the posting of genetic data from a single individual can reveal deep genealogical ties and lead to the identification of a distantly-related person who may have no acquaintance with the person who released that genetic data.

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