DNA Sequencing, In the Palm of Your Hand

Publication
Article
Pharmacy TimesMarch 2014 Mental Health
Volume 80
Issue 3

A molecular geneticist has set out to crowdfund his dream of producing a less time-consuming method of analyzing and sequencing DNA.

Jonathan O’Halloran has a goal: find a better and less time-consuming method to analyze and sequence DNA.

“I was a little bit fed up with having to do all of the processes involved in sequencing DNA,” joked O’Halloran, molecular geneticist and chief science officer for QuantuMDx. “I was bored, quite frankly, and lazy.”

So the biotechnology “rockstar,” as he is occasionally called, developed a machine that can diagnose malaria strains and drug resistances at the point of care, for use in health clinics in developing nations.

Now in the prototype stage, QuantuMDx is hoping to crowdfund the capital needed to bring the device to market, through an Indiegogo campaign that launched February 12, 2014.

“The way in which we’re approaching it is on a humanistic perspective,” O’Halloran said. “What is people’s perspective on the drug resistance problem in the world? It is quite interesting to see how that is going to work.”

O’Halloran cites a trend he noticed while conducting research in South Africa: often, the testing needed to diagnose certain diseases would take a considerable amount of time, or would need to be redone if health care providers did not believe the results.

“By the time the patients got an accurate diagnosis, it was either too late or the diagnosis was wrong, or the disease had already developed a resistance to certain drugs,” O’Halloran said. “It occurred to me that there is probably a better application for quick-sequencing technology than my laziness.”

Q-Poc, the device that is the subject of QuantuMDx’s crowdfunding campaign, will target malaria, O’Halloran said. The sequencer requires a 5- to 10-mL blood sample—enough to provide millions of parasites—which is placed into an iPhone-sized cassette. The machine’s first chamber vibrates the blood cells with beads to release the DNA and other cellular material; a special filter separates the DNA from the other blood components. After passing through the filter, the DNA rehydrates certain reagents that will help determine the disease genome and strain, O’Halloran said. In the next step, changes to a nanowire biosensor help detect any drug resistances.

The time to complete sequencing is about 13 minutes—and O’Halloran hopes to reduce that to 10 minutes. “It’s always been our goal to provide referral laboratory testing at the point of care,” O’Halloran said. “We’re aiming for over 95% specificity. I’m not going to rest until it is even higher than that.”

Although the current product focuses on malaria, QuantuMDx intends to apply its technology to diagnosis of tuberculosis and HIV. The company is also investigating the device’s potential in pharmacogenetic testing.

Testing the unit involves comparing the results with the Q-Poc device to gold standard industry tests, repeating, and improving performance where necessary.

“These things aren’t cheap, for sure,” O’Halloran said. “At this point, we’re raising money to get through the various regulatory agencies in developed nations. Some of the crowdfunding money will go toward getting through those regulatory bodies.”

O’Halloran could not pinpoint an anticipated cost for the regulatory approvals, because it is determined by the size of the regulatory trials. QuantuMDx intends to seek European approval first, then focus on the FDA.

“Frankly, we have no idea if [crowdfunding is] the way to go,” O’Halloran said. “It’s a social experiment. We’ve seen how well consumer devices have done ... I just hope people are going to pick up on it.”

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