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Since the completion of the Human Genome Project in 2003, a string of technological advances have made it faster and cheaper to sequence a human genome. But there’s still a big problem: what do you do with all that data once you’ve unraveled it?

For Andreas Sundquist, the answer is to send it to the cloud. Sundquist is the CEO and cofounder of DNAnexus, a software startup that positions itself between DNA sequencing facilities and those who need to manage, and glean information from, sequenced genomes—including academic researchers, doctors, and biotechnology and pharmaceutical companies.

“The more and more data you produce faster and cheaper, the more the bottleneck—which used to be the DNA sequencing itself—is actually now the data management,” he says.

Sundquist sees his company as an instant online genomics center, offering clients immediate access to vast stores of DNA data and to analysis tools so they can make sense of it all—and potentially come up with better treatments for cancer and genetic diseases, as well as identify genetic links to diseases like autism and alcoholism.

Here’s how it works: Your lab’s data is uploaded to DNAnexus through a Web browser or sent via a DNA-sequencing machine connected to the Internet. It then sits in your cloud-based account (the company uses Amazon’s and Google’s cloud services). You log in to the account on your computer to see the data and use DNAnexus’s tools to analyze it.

Eventually, Sundquist hopes DNAnexus will bring together lots of different genetic databases (which for now tend to exist on their own, without being linked to others), aiding research efforts, drug discoveries, and the creation of drug-targeting diagnostic tests.

And Sundquist expects the market for Mountain View, California-based DNAnexus’s services will grow dramatically. He estimates that about 20,000 full genomes have already been sequenced worldwide, and predicts this will rise to a million in several years as the price and time required continue to fall (right now, he estimates the process takes about a day and costs roughly $4,000). All that data will amount to more than an exabyte of data—one billion gigabytes—and hundreds of thousands of central processing units will be needed to analyze it all, he estimates.

DNAnexus isn’t the only company betting on this growth. David Dooling, assistant director of the Genome Institute at Washington University in St. Louis, points out that several other companies are offering cloud-based DNA analysis services, too, including Illumina.

“I think it’s certainly good that there are people that are trying to make analysis more accessible to a wider community,” Dooling says. “I think it’s a difficult value proposition in that a lot of people are trying to do it now.”

If Sundquist’s expectations pan out, there will be plenty of work to go around. He expects that in the next three years millions of genomes will be sequenced. In 10 years, he believes, everyone in the developed world will have their genome sequenced as part of their medical records, and that many children will have their genome sequenced when they’re born.

One day soon, “when you go to the lab and get a test done, some of those tests are basically going to be software that runs on the genome that’s already part of your record,” he says.

This doesn’t mean we’ll all soon be plucking a hair or swabbing a cheek and sending it off to a lab to get our genomes sequenced. In Sundquist’s view of the future, it will be even easier than that. “I think probably you’ll stick your thumb in your cell phone and it will be built-in,” he says, grinning. “I’m sure the iPhone 10 will have a DNA-sequencing module.”

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Credit: Technology Review

Tagged: Computing, Biomedicine, sequencing, human genome

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