DNA testing on your smartphone just a download away

Genetic sequencing is no longer for the uber-wealthy and uber-patient: If a decade ago it cost $3 billion and took 8 years to sequence the human genome, that option is available to anyone today who has $3,500 to spend and is willing to wait the 24 hours it takes to do the job. Pretty soon, experts say, the cost for sequencing is going to come down to about $1,000.

So what can you do with your genomic DNA sequence? Soon you will be able to whip out your smartphone and analyze it, using an app developed by researchers at Tel Aviv University. Their app (and website) GeneG makes genetic analysis as simple as sending a text message or making a phone call.

Professor Noam Shomron (Photo credit: Courtesy)

“For the first time you can take your genome home and look at it whenever you want,” according to GeneG creator Noam Shomron. “We are giving you eyes to peer into your genetics.”

Shomron developed the GeneG app and website together with TAU graduate students Ofer Isakov and Gershon Celniker. The app and site will be opened to physicians later this month, ahead of a public release.

GeneG has the potential to make genetic testing as routine as a blood pressure test.

Currently, someone who wants a DNA test — for example, a pregnant woman who wants to check for potential genetic issues — needs to donate a separate sample of DNA for each test, as clinics that process the DNA generally test for only one specific item. The process involves traveling to the clinic to have blood drawn, sometimes more than once, and takes weeks to complete.

But for those who have had their genome “done,” the process is much simpler. GeneG users upload their genome (in the standard VCF format used for gene sequence variations) to the site. Once online, they can submit the information in their account to standard digital genetic tests developed by organizations like the National Institutes of Health, Stanford University, and the European Bioinformatics Institute. There are currently hundreds of tests that can check for all sorts of information, such as diseases, the possibility of specific traits (hair and eye color), and so on. All of them can be done remotely just by clicking on a smartphone screen.

But GeneG is about more than DNA testing, said Shomron. Many scientists predict that as more people get control of their genetic data, they will demand solutions that are tailor-made to their needs and guided by the results of DNA tests. Naturally, said Shomron, the information uploaded to GeneG accounts will be kept secure to and users will have full control over the data, including who has permission to look at the test results.

In an era of such personalized medicine, for example, pharmaceutical companies could compound medications to order for specific patients based on their genetic data, ensuring that any elements that are potentially harmful that are generally found in off the shelf medications are kept out. Doctors will be able to develop more successful treatments for a range of maladies, from cancer to sleep disorders, based on the information yielded by GeneG’s easy genetic testing system, said Shomron.

“If we give this power to the general public,” he said, “it will put pressure on the medical field to catch up with this information.”