Breakthrough DNA Test Saves Boy in 48 Hours

New software sifts through DNA sample to make quick diagnosis

By John Johnson,  Newser Staff

Posted Jun 4, 2014 7:39 PM CDT

(Newser) – A 15-year-old boy is alive thanks to a diagnosis that sounds like it’s from a sci-fi novel. Doctors took a DNA sample from Joshua Osborn—whose brain was swelling with fluid for reasons that had doctors stumped—ran it through DNA-sequencing machines, and let the software work its magic, explains Carl Zimmer of the New York Times. Within 48 hours, doctors had their answer: Joshua had a lethal form of bacteria called Leptospira. And while it’s lethal, it’s also treatable. Heavy doses of penicillin did the trick.

"It was a very exciting phone call to make," says neurologist Michael Wilson of the University of California, San Francisco, who co-authored a new paper in Genome Research about the case. The concept of using DNA sequencing to diagnose illness isn't new, but it's never before been used to cure a dying patient in real time. It takes time to work through millions of pieces of DNA, but the new software speeds up the process dramatically. It zeroes in on DNA in the patient's sample that belongs to pathogens, then compares those fragments to online databases. The breakthrough holds great promise, but it's thought to be years away from normal use. Read the full story.

  (Shutterstock)
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