Revolutionary “DNA sequencing” can solve medical mysteries

National

A certified team can have the results to a patient's physician in as a little as five to seven days.

STERLING, Va. (WDVM) — It’s called deep DNA sequencing and it’s revolutionizing the way medical mysteries involving chronic infections are solved. About 75 percent of infections are mis- or undiagnosed.

CEO Crystal Eisenhour says Aperiomics tested a 65-year-old woman’s DNA after her doctor made many failed attempts at treating her Lyme Disease. One extraction screened for every known bacteria, virus, parasite, and fungus — the result? The patient didn’t have Lyme Disease at all. And her real infection is curable.

Eisenhour says Aperiomics is the only company in the United States that can do this. Each sample screens for nearly 40,000 microorganisms and only takes about a day to process. A certified team can have the results to a patient’s physician in as a little as five to seven days.

Chief Clinical Officer C. Alexander Valencia says, just five years ago, it could take six months to a year to get sequencing results.

“Now we’re getting down to two weeks, then one week, and obviously, hopefully that technology will improve to get it down to within a day,” said Valencia. “That’s going to be more significant.”

Named for the Greek term “discovery” or “discovery uncovered,” Aperiomics was founded five years ago in honor of Eisenhour’s grandmother. Her grandmother suffered from an undiagnosed illness and died at just 64-years-old from liver failure. Eisenhour says her grandmother had taken large amounts of Tylenol for her symptoms.

“So many of our patients have been marginalized by a system that just didn’t have the right tools to figure out what was going on,” said Eisenhour.

Eisenhour says diagnosing infections can be done in one of three ways: primary testing with a culture in a Petri dish, in which only 10 percent of microorganisms can actually grow; testing for antibodies, which requires the physician to know what they’re looking for; and DNA testing.

Instead of testing for just one thing, as in primary testing and immune response testing, sequencing tests for “everything that’s known.” Aperiomics’ process occurs in four stages: DNA extraction, sequencing, data and analytics, and reporting.

“The ability to take a look at everything in the sample — not just these really small pieces — and trying to put together this incredibly complicated puzzle: that’s where we really shine,” said Clinical Bioinformatician Alexander Larsen, who studies the results and sends them to a patient’s physician. Just one patient sample can produce one terabyte of data.

Because of this, Eisenhour says the company is developing a software program that can be implemented in doctors’ offices and hospital systems to make the data easier to understand. Still, Eisenhour says Aperiomics requires its patients to apply for an extraction through their physician.

“We want this technology to be at the very beginning…so that patients can get better sooner and can get the diagnosis sooner instead of later,” Valencia said. Eisenhour says the company hopes to be covered by Medicaid and most private insurances in about a year.

Copyright 2020 Nexstar Inc. All rights reserved. This material may not be published, broadcast, rewritten, or redistributed.

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