ARUP

Feeling sick? Your doctor can now better diagnose you using your DNA and the internet

By Heather Simonsen  |  Posted Jul 15th, 2016 @ 11:08pm


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SALT LAKE CITY —When doctors take a sample of blood or a swab from someone's throat, they may send it to a medical diagnostic lab like ARUP Laboratories. To determine certain diseases, scientists break open the cells, extract the DNA and RNA and sequence them, a technique used for genome sequencing, now used in diagnostic labs.

A new web-based tool called Taxonomer is taking the mystery out of diagnosing illnesses. Powered by advanced computer software, doctors no longer have to suspect the cause of a patient's infection.

"It's the beginning of a whole new realm for diagnostics," said Mark Yandell, professor of human genetics at the University of Utah. "Does the patient have X? If no, then maybe they have Y, well no, maybe Z. Now what you can do is look for everything all at once."

From the common cold, pneumonia or the Zika virus, Taxonomer can find it all. Before, doctors could only test for what they thought you had, and often never discovered what was really making you sick.

"They can't know. All they know is what they test for, and the power of these sequence-based approaches is you can look at every known bacterium, virus, fungus, etc., all in one pass," he said.

Doctors say this means better care for you and me.

"They get a quicker diagnosis and get treated sooner," said Dr. Robert Schlaberg, with the ARUP Laboratories. He said Taxonomer can find any known pathogen. "Whatever's there, you'll find. The data tells the story."

It's precision medicine. What used to take months now takes minutes, and doctors get definitive answers.

Anyone can use Taxonomer, even on a smartphone. Yandell said, "You can play with it on the web. Not only that, if you've got your own sequencing data and increasingly there's a lot of direct-to-consumer marketing for that, you can upload that data."

Researchers upload the data to Taxonomer over the internet, which instantly matches the gene sequences to fungi, viruses and bacteria. Within five minutes, they have results at their fingertips.

Infectious disease is one of the leading causes of death worldwide, often because doctors can't find out what's wrong in time. Developers of Taxonomer say it will save lives here at home and in developing countries where an alarming number of children die of infectious diseases. It will also prevent the overuse of antibiotics and better detect infections in cancer patients.

The technology will also change something as simple as a parent taking a child to the doctor. "It won't be going to the doctor and, 'Does my child have strep throat?' And then finding out, 'No, it doesn't look like they have strep throat, they probably have a virus.' You'll know what virus," Yandell said.

Though Taxonomer is primarily used by doctors now, down the road they said it will become more user-friendly for patients. They said you could conceivably take a sample of pool water, have it analyzed, and use the new technology to instantly find what's in it.

Heather Simonsen is an Emmy-winning health reporter for KSL 5 TV. She's been featured in O Magazine, the New York Times, Salt Lake Magazine, Utah Style & Design and local newspapers. She was a spokesperson for the Olympics and is the mother of three.

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