Imperial College London Professor Christofer Toumazou with his Genealysis chip, which can analyze DNA within 30 minutes and without a laboratory. The chip is powered by a mechanism that uses biology input from DNA to run analysis. The patented mechanism is now nominated for a 2014 European Patent Office Inventor Award. Christofer Toumazou believes he can change the world with his “one chip, one bug – one chip, one drug,” slogan. A nominee for the European Patent Office’s 2014 European Inventor award in the Research category, Toumazou co-founded three “intelligent” medical diagnostics and therapy companies and holds more than 50 patents total, with 40 related to healthcare and semiconductor technology.

The nomination honors Toumazou’s patent for the technology behind what he calls the Genealysis chip, a USB-like chip powered by DNA biology instead of a more traditional electrical input. The chips can analyze DNA within 30 minutes and without a laboratory.

Propelled by his son’s devastating genetic renal disease, Toumazou hopes the chips can play a large role in early disease detection and personalized medicine. The technology is now being brought one step closer to consumers through the unregulated cosmetics industry, as a means to remove the stigma associated with such devices.

Consumer electronics to biological microchips

Toumazou, a professor of engineering at Imperial College London, says his initial research in consumer electronics showed him that while the ever-growing digitalized world was great for consumers, it was problematic for the healthcare and biology sectors.

“My passion made the change from the consumer-based digital world into the healthcare world by using similar technologies– microchips and computer chips– that they use for mobile phone arena, but interfacing them to biology,” he says. “[To do that,] we don’t need the high precision of a digital world; what we do need is for these devices to be intelligent, low-power, wearable. We want to take away the intrusiveness of these technologies, as well as the stigma of them being medical.”

Using this philosophy, Toumazou created a “replacement” cochlear prosthetic for born-deaf children. The result was a low-power microchip that could interface to a child’s biology with hardly any power consumption and could do the same thing as a traditional cochlear implant.

“For me, that was the start,” he says. “That was all about providing a therapy using microchips.”

As Toumazou continued to focus on microchips for biology, he co-founded Toumaz Technology and created what he calls a “digital patch,” something similar to a small bandage, which sticks on the chest and continuously monitors vital signs using a miniature processor.

Not long after the founding of Toumaz Technology, Toumazou’s son was diagnosed with a genetic renal disease, and subsequently, went into renal failure.

“The problem was not only that we detected it very late, but the fact that [there was] also this image that if we could have detected it early enough, then maybe we could have managed his lifestyle differently, so that when it did happen, it wouldn’t have happened with such force,” he says. “That experience brought me to the field of early detection.”

‘Consumer genetics’: A point-of-care vision

Toumazou points to the completion of the Human Genome Project in 2000 as a turning point in his career.

“I remember thinking, ‘If you can sequence one person’s genome, look for mutations and find errors in their code that will give you these genetic predispositions, such as my son’s renal disease, then imagine if millions of people can be sequenced,’” he says.

Not long after, Toumazou had a revelation in his own work: Microchip technology could be scaled to accommodate genetics.

The resulting technology is the basis for his EPO-nominated patent. Toumazou and colleagues introduced DNA as the input of a microchip. As he explains, when you match bases of DNA, you go through a process of hybridization, and that is when you get the base pairs of DNA. When the pairs match, protons are released, and these protons cause a change in pH.

“In this particular instance, the pH changed on the surface of the semiconductor, and it was enough to turn the microchip on electrically,” Toumazou says. “This meant that, for the first time, we could turn on one of these computer chips without having electricity as the input, but having DNA as the input.”

But the developments didn’t stop there. Toumazou’s end goal was to try and create a device that would, as the parent outlines, have DNA as the input, but have the output be a yes-or-no-answer as to whether or not a person had a particular genetic mutation.

“That was the objective of my work. I wanted to drive what we call ‘consumer genetics,’” he says. “I wanted to bring DNA sequencing and genetics to the point of care and not have big, lab-based machines that effectively are trying to sequence whole genome.”

The Genealysis chip

After a few successful (and unsuccessful) non-exclusive licensing opportunities, Toumazou secured an investment from Malaysia-based Genting Group and established a company called DNA Electronics.

With backing from the Genting Group, Toumazou moved forward with creating the point-of-care handheld device that he had envisioned all along. The objective was to create a sensor or a microchip array that would be immobilized for DNA.

“For example, if I was looking for a genetic renal disease mutation, I would put the code for that renal disease mutation on a chip, then take a sample of someone’s DNA and match it with the DNA on the chip,” Toumazou explains. “If it matched fully, then that would give enough pH to turn on the transistor and I would know that [a person had] the genetic mutation. If it didn’t match, then it would mean that [they didn’t] have it.”

Officially created between 2004 and 2005 and running on Toumazou’s already patented biological input, Genealysis chips are USB-like sticks that come “premade,” that is, with the primer – the DNA you are trying to detect or measure – already loaded on the chip. It performs DNA analysis using a lab-on-a-chip mechanism that can execute the entire PCR process on the chip.

“Everything is done intelligently on the miniature, few-millimeter chip,” he says. “We can both amplify and detect the DNA we’re looking for simultaneously. That’s why it’s so fast and small.”

Driving personalized medicine

Genealysis chips will be available to the public this month, with the opening of GENEU, what Toumazou calls the world’s first genetic testing shop. Located on Bond Street in London, GENEU will use Genealysis chips to run a 30-second analysis on customers’ skin DNA and provide them with high-end cosmetics to complement the results.

But why cosmetics? Because despite all the possibilities that the chip may hold, there are still barriers standing in the way of its public, and regulatory, acceptance– one being the evidence base.

“What I’m trying to do is bring medical-grade technology to the consumer and, in this particular way, actually bring personalized medicine to the beauty industry. [We] are taking the stigma away from the medical device. [We’re] getting the consumer to see and accept the fact that a genetic test is not a big thing.”

In the future, however, Toumazou hopes for Genealysis chips to be true medical diagnostic devices, backed by regulatory agencies and supported by clinicians. The uses for the chip, at its full potential, could bring the mindset of early detection and personalized medicine to a number of fields – from pharmacogenetics to infectious disease management.

“You see, we all differ by .1%. We’ve [all] got 3 billion bases of DNA and we differ by .1%, and it’s those .1% differences that I wanted to put on my microchips…So [in the future] I hope that we can have ‘one chip, one bug, one chip one drug’ – one chip, one disease,” he says.