Open Source DNA: A New Way to Protect Privacy and Scientific Freedom in Genetic Research

There exists a real fear spinning around today's genome research community that private genetic information could be used negatively against individuals. In 2008, after a published article found serious security holes in the way DNA data are made publicly available, health institutes in the United States and worldwide removed all genetic data from public access.

"Unfortunately, that knee-jerk response stymied potential breakthrough genetic research," says Dr. Eran Halperin of Tel Aviv University's Blavatnik School of Computer Sciences (Israel) and department of molecular microbiology and biotechnology. He wants to put this valuable DNA information back in circulation, and has developed the tool to do it-- safely.

Working with colleagues at the University of California in Berkeley (USA), Dr. Halperin devised the mathematical formula. Reported in the September 2009 issue of the journal Nature Genetics, the tool could keep millions of research dollars-worth of DNA information available to scientists. "We've developed a mathematical formula and a software solution that ensures that malicious eyes will have a very low chance to identify individuals in any study," commented Dr. Halperin, who is also affiliated with the International Computer Science Institute in Berkeley.

The mathematical formula that Dr. Halperin's team devised can determine which single nucleotide polymorphisms (SNPs, which are small pieces of DNA) that differ from individual to individual in the human population--are accessible to the public without revealing information about the participation of any individual in the study. Using computer software that implements the formula, the U.S. National Institutes of Health (NIH; Bethesda, MD, USA) and similar institutes worldwide can distribute important research data, but keep individual identities private. "We have been able to determine how much of the DNA information one can reveal without compromising a person's identity," said Dr. Halperin. "This means the substantial effort invested in collecting these data will not have been in vain."

Genome association studies can find links in the human genetic code for conditions such as autism and predispositions for cancer. Armed with this information, individuals can avoid environmental influences that might bring on disease, and scientists can develop new gene-based diagnosis and treatment tools.

Examining SNP positions in the genetic code, Dr. Halperin and his colleagues demonstrated the statistical improbabilities of identifying individuals even when their complete genetic sequence is known. "We showed that even when SNPs across the entire genome are collected from several thousand people, using our solution the ability to detect the presence of any given individual is extremely limited," he noted.

Dr. Halperin hopes his research will reverse the NIH policy, and he will provide access to the software so that researchers can use it to decide which genetic information can be safely loaded into a public database. He also hopes it will quash raging debates about DNA usage and privacy issues.

The Tel Aviv University-Berkeley research was conducted while Dr. Halperin was working with the International Computer Science Institute (ICSI), a nonprofit research institute with close relations to the University of California (UC) and Tel Aviv University.

Related Links:
Tel Aviv University's Blavatnik School of Computer Sciences
University of California in Berkeley
International Computer Science Institute