The personalized medicine revolution is, you may have heard, well on its way. We have the tools: the Ion Proton genetic sequencer, for instance, can sequence an entire genome in a day for $1,000. It took $3 billion and 13 years to sequence the first human genome back in the ancient days of 2003.
The rapid advancement of sequencing technology could dramatically change medicine, with routine screening for cancer-causing genes, genetic profiling of every tumor that reaches a doctor’s office, and more. Already, every child born in California has part of their DNA sequenced for genetic testing.
There’s just one problem: DNA has evolved for millions of years to be an efficient data-storage device. Our computers are incredibly far behind, so it takes whole lot of computer memory to store everyone’s genome. The solution, as it is with so many memory-intensive things, is to store the data in the cloud.
"We think that DNA sequencing is ultimately a big data problem. Each human has six billion letters of DNA in your body, but when you get that information out of your cells and into a computer, it tends to take almost a terabyte of data per human. That’s like 20 DVDs of information," says Andreas Sundquist, CEO and cofounder of DNAnexus.
DNAnexus’s fix is to have doctors upload lab data to the Internet, where it is stored in a cloud-based DNAnexus account powered by Amazon and Google’s cloud storage. The startup also has DNA analysis and visualization tools built into the service.
"It should be as easy for doctors to log into DNAnexus and work with the data as it is for them to log into their Gmail," says Sundquist. "It’s almost like an operating system for DNA. We’re like this platform layer that sits on top of Amazon and Google’s clouds. In that environment, [doctors] find all these different tools for analyzing DNA, visualizing DNA, all the different databases of what we know about DNA."
Some of the largest medical centers in the U.S. are already looking at DNA sequencing and starting to use it for patient care—especially for children with rare genetic disorders and cancer patients. Sequencing will only become more popular as prices drop. In two years, Sundquist believes that we’ll see the first million people sequenced. In five to 10 years, it will be commonplace.
"You’re going to sequence all of your DNA once, it’s going to be part of your medical record, and every time you go out to have a genetic test, they’re basically going to run a piece of software that will look at the DNA that has already been sequenced and tell you new information based on that test," predicts Sundquist.
When that happens, companies like DNAnexus—and competitors like Bina Technologies—will (hopefully) be there to help us deal with the DNA data overload.