UC Irvine researcher Gene Tsudik (Photo by Steve Zylius)
A team led by University of California-Irvine researchers has developed what’s been called an Android-based smartphone paternity test. The app would allow two people, if they had access to their digitized genomes, to run a paternity test comparing their genomes, determine how closely related they are, and even scan their genome for predictors of different diseases. The team also includes researchers from the Xerox Palo Alto Research Center (PARC) and the New York Institute of Technology.
According to researchers, though, the real innovation of the platform, called GenoDroid, is that it allows people to run tests using their digitized genomic data, while maintaining data privacy — not sharing their genome with anyone, even the other subject of the test.
“Clearly if you reveal a genome, anyone can compare it to another genome,” researcher Gene Tsudik told MobiHealthNews. “But if you give away your genome, you’re giving away a treasure trove of very, very valuable information.” And, he added, privacy concerns around genomic data are even more complicated than that.
“The problem is, [if you make your genome public] you’re not really just hurting yourself, you’re also cursing your own children and giving away information about your parents and siblings,” he said. “We believe ethicists and legal experts will have to be involved in this discussion.”
One such legal expert, Daniel Vorhaus, a lawyer with Robinson, Bradshaw & Hinson and editor of the Genomics Law Report, disagrees with Tsudik on the danger involved, suggesting there’s little evidence that a personal genome is especially valuable to anyone but the holder in most cases. In fact, more than two thousand people have opted to make their genome public, including Vorhaus himself, through the Personal Genome Project. GenoDroid was even tested using genomes publicly donated to science.
The conversation about the need for genomic privacy is an ongoing one, but it’s worth noting that many leading thinkers don’t agree that genomic privacy is as essential as Tsudik, admittedly a computer scientist and not a genetic expert, suggests. The position of the GenoDroid research team in their paper is that privacy concerns have at least been raised — because genome data “contains information about one’s ethnic heritage, phenotypic traits, and predisposition to numerous diseases and conditions, including mental disorders” and can’t be truly de-identified or anonymized because it is “the ultimate identifier.”
Of course, Tsudik is quick to point out that even though GenoDroid is a functional, usable app, it amounts to little more than a proof of concept. This is because it’s currently very expensive to have your whole genome sequenced, and very few people have access to that information. Even people who use services like 23andMe are only paying for digitization of certain parts of their genome, not of the whole thing.
In 2009, we reported that Illumina was offering full-genome sequencing for $48,000. According to their website, they now offer the service for $10,000. But most people in genomics agree that technology will continue to get cheaper.
“I see a company [like 23andMe] in the next 5 to 10 years offering the same service, for the entire genome, for $99,” Tsudik said. He also said that a human genome is too large a data set to store on a smartphone right now, but not too large to store on a desktop or an external harddrive, which the smartphone could then access via the cloud.
To run a paternity test, GenoDroid only needs to compare a small part of the genome, so the app can maintain some privacy by only sharing that portion of the data with the other devices. But Tsudik said the app will later be upgraded to run more complicated tests — for instance, two people who want to have children together might run a genetic compatibility test, or two people might run an ancestry test to see how much of their genome is shared. These tests would require more of the genome to be shared. For that reason, the app also encrypts the data and the only information it returns to the user is the result of the specific test.
One other area where Tsudik said the tech could be helpful is in the burgeoning field of personalized medicine. Pharmaceutical companies are increasingly developing cancer drugs that only work on people with particular genetic markers. The companies sometimes consider certain information about these markers to be trade secrets, which could lead, Tsudik said, to a data privacy stand-off.
“About a decade ago there was a Supreme Court decision that said you cannot patent genetic material, which means a pharma company can’t patent a genetic marker. This brings us to this conundrum — the pharmaceutical company has markers that are secret, the patient has DNA which is secret,” he said. Tsudik didn’t get it quite right in terms of the legal realities — the validity of gene patents is far from decided. According to this WSJ report from the end of last year, a case is pending that could provide more clarity, but, Vorhaus says, even if the finding bars certain gene patents it won’t be so broad as to rule out gene patents entirely.
Nonetheless, GenoDroid or similar apps could bolster personalized medicine by sidestepping the need to share such sensitive information. Tsudik said there are no plans to commercialize GenoDroid at present; the paternity test app is being made available (for free download in the Google Play store) for “a few well-meaning geeks in bioinformatics” to “play with,” and subsequent versions will be made publically available as well.
“I’m a security and privacy researcher,” said Tsudik. “Our goal is to look into the future and see what spheres of life will become digitized, computerized, and what privacy concerns will come out as a result. The real umbrella goal here is to anticipate privacy concerns in this brave new world where everyone has access to their own genome. People will lose their genomes, hackers will break in and steal them, and when that day comes we want to be prepared for it.”
UPDATE: This story has been edited from its originally published version to provide more balance and clarity about the complex issues involved in genomic law, thanks to prodding from Vorhaus.