Internet of DNA

A global network of millions of genomes could be medicines next great advance.

Availability: 1-2 years

Technical standards that let DNA databases communicate.

Your medical treatment could benefit from the experiences of millions of others.

Noah is a six-year-old suffering from a disorder without a name. This year, his physicians will begin sending his genetic information across the Internet to see if theres anyone, anywhere, in the world like him.

A match could make a difference. Noah is developmentally delayed, uses a walker, speaks only a few words. And hes getting sicker. MRIs show that his cerebellum is shrinking. His DNA was analyzed by medical geneticists at the Childrens Hospital of Eastern Ontario. Somewhere in the millions of As, Gs, Cs, and Ts is a misspelling, and maybe the clue to a treatment. But unless they find a second child with the same symptoms, and a similar DNA error, his doctors cant zero in on which mistake in Noahs genes is the crucial one.

In January, programmers in Toronto began testing a system for trading genetic information with other hospitals. These facilities, in locations including Miami, Baltimore, and Cambridge, U.K., also treat children with so-called Mendelian disorders, which are caused by a rare mutation in a single gene. The system, called MatchMaker Exchange, represents something new: a way to automate the comparison of DNA from sick people around the world.

One of the people behind this project is David Haussler, a bioinformatics expert based at the University of California, Santa Cruz. The problem Haussler is grappling with now is that genome sequencing is largely detached from our greatest tool for sharing information: the Internet. Thats unfortunate because more than 200,000 people have already had their genomes sequenced, a number certain to rise into the millions in years ahead. The next era of medicine depends on large-scale comparisons of these genomes, a task for which he thinks scientists are poorly prepared. I can use my credit card anywhere in the world, but biomedical data just isnt on the Internet, he says. Its all incomplete and locked down. Genomes often get moved around in hard drives and delivered by FedEx trucks.

Haussler is a founder and one of the technical leaders of the Global Alliance for Genomics and Health, a nonprofit organization formed in 2013 that compares itself to the W3C, the standards organization devoted to making sure the Web functions correctly. Also known by its unwieldy acronym, GA4GH, its gained a large membership, including major technology companies like Google. Its products so far include protocols, application programming interfaces (APIs), and improved file formats for moving DNA around the Web. But the real problems it is solving are mostly not technical. Instead, they are sociological: scientists are reluctant to share genetic data, and because of privacy rules, its considered legally risky to put peoples genomes on the Internet.

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Internet of DNA