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Genome analysis with near-complete privacy possible

portrait photo of Gill Bejerano
Aug 17 2017
Awards, Fellow, Research, Stanford

It is now possible to scour complete human genomes for the presence of disease-associated genes without revealing any genetic information not directly associated with the inquiry, say Stanford University researchers.

This “genome cloaking” technique, devised by biologists, computer scientists and cryptographers at the university, ameliorates many concerns about genomic privacy and potential discrimination based on an individual’s genome sequence.

Using the technique, the researchers were able to identify the responsible gene mutations in groups of patients with four rare diseases; pinpoint the likely culprit of a genetic disease in a baby by comparing his DNA with that of his parents; and determine which out of hundreds of patients at two individual medical centers with similar symptoms also shared gene mutations. They did this all while keeping 97 percent or more of the participants’ unique genetic information completely hidden from anyone other than the individuals themselves.

Co-lead author Karthik Jagadeesh is a 2017 SGF. Co-author Johannes Birgmeier is a 2017 Bio-X SIGF, Computer Science.