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Lab-on-a-chip decodes DNA to predict your future
02:07 - Source: CNN
CNN  — 

It would be remiss to describe Chris Toumazou’s path to professorship as anything other than unconventional. Make that highly unconventional.

“My education wasn’t fantastic,” Toumazou says as he welcomes CNN to the stylish South Kensington campus of Imperial College London, where he is based. “But maybe that makes me more intuitive,” he says.

Toumazou left school at the age of 16 with few academic qualifications to his name. Back then, he’d never seen the inside of a lab or even been acquainted with a Bunsen burner. Yet that hasn’t prevented the now 54-year-old racking up a remarkable record of innovation in the period since.

He is now Regius Professor – meaning his title was given by Royal appointment – of Engineering at Imperial College London where he also heads-up the Center for Bio-inspired Technology.

“I had to work really, really hard” to catch up, Toumazou says of the journey that saw him study electronics at a further education college before being accepted to university.

He eventually undertook a PhD at Imperial College in his early twenties. “Once I was given the tools, then I really worked (them),” Toumazou adds.

That’s underplaying things slightly.

A world of microchips

Toumazou has pioneered a wave of multidisciplinary study and discovery, fashioning innovative uses for microchips in the fields of electronics, biology, genetics and health care – and uniting the once-separate worlds of electronics and biology.

Among his most notable achievements are the microchip for a cochlear implant that improves the hearing of children who are born deaf and an artificial pancreas that regulates the secretion of insulin in people with diabetes. The latter was partly inspired by his search for a solution when his son was diagnosed with a rare kidney condition.

Toumazou is also behind the “Sensium” pad that enables doctors to measure patient vitals like breathing, body temperature and ECG signals from a distance. Additionally, he can lay claim to driving innovation in cell phone and pager technologies earlier in his career, including the first mobile phone that used both analogue and digital signals.

Yet while just one of these inventions would suffice for most inventors, Toumazou went on to create what many would feel is his most impressive technology yet, his so called “lab-on-a-chip” genome sequencing device. Its complexity and sheer variety of uses offer huge potential in the burgeoning, multi-billion dollar field of personalized medicine.

A plethora of awards seems to have confirmed as much.

How the chips perform their magic

The process as a whole is deceptively simple, consisting of a specially designed silicon microchip attached to a USB stick. This lab-on-a-chip can perform a DNA test in under 30 minutes – and for as little as $20.

Traditional DNA analysis was long carried out in the lab with specialist equipment and know-how, all of which can take weeks to bring results – and involve considerable cost.

Read: How to create opioids for the masses

Each lab-on-a-chip is primed with a genetic sequences found in people predisposed to certain diseases or illnesses, ready to identify if someone carries those genes. For example, one chip may be used to detect if someone is at risk of developing type two diabetes, while another may be designed to recognize the presence of genes associated with cardiovascular disease.

The user provides a DNA sample, in the form of saliva or a mouth swab, which then seeps onto a series of precisely honed semiconductors that are programmed to carry out what Toumazou modestly describes as some rather “complex chemistry” tests.

If the sample matches that for which the chip has been primed, hydrogen ions are released (as happens when pairs of nucleotides bind during DNA sequencing). This creates a signal that switches on the chip and reveal that the person suffers from or is predisposed to that particular condition. Should no signal be sent, no nucleotides bind together, no hydrogen ions are released and no signal is sent, meaning the individual is not suffering from, or predisposed to, that condition.

“We all differ by 0.1% and every time somebody has a genetic test we might discover another difference,” Toumazou explains. “Those differences are mutations and we make primers for those that are contained on the chip.”

The portable nature of the chips mean tests can take place rapidly within a doctor’s clinic or in remote locations far from medical facilities. They could even be conducted inside a patient’s own home given the chip can be plugged into a laptop, or similar device, to obtain the results. The pivotal point is that specialists are not required.

What’s more, the chips can reveal an individual’s predispositions to a range of hereditary diseases, such as type two diabetes, as well as any intolerance to certain drugs on the market.

According to the European Patent office, which named Toumazou Inventor of the Year in its research category in 2014, the technology has the potential to shift the focus of medicine from treatment to early prevention – a narrative now commonplace, and desired, throughout the field of public health.

A multitude of potential

While uncovering a predisposition doesn’t mean an individual is guaranteed to contract an illness, it does provide knowledge that enables them to enact change in their lifestyle and minimize future risks.

Toumazou is quick, however, to add that all of this is just a fraction of the technology’s potential.

The chips can also be used to ascertain what drugs an individual is most responsive to as well as the dosage required. In a 2015 presentation, Toumazou spoke of a former cancer patient whose drugs were altered when, after undertaking one of his DNA tests, it was discovered she was resistant to the medicine she had been prescribed.

Products are also in development to help decode serious blood infections such as sepsis , which are expected to be rolled out by Toumazou’s company, DNAe, in 2017.

Read: The nuclear detective tracking down the world’s last elements

Taking DNA to the consumer

Aside from the excitement about the future uses for these chips, Toumazou admits there are numerous challenges ahead, including the fact that pharmaceutical companies are still struggling with the idea of personalized medicine.

“Unless there is a blockbuster, which is very rare, (the pharmaceutical companies) really are skeptical about changing their approaches,” Toumazou says.

As a result, he has been keen to develop a number of spin-off consumer products from the same platform technology. This, he hopes, will prove its efficacy and increase general awareness of its possibilities.

Toumazou launched the cosmetics firm, GeneU, in 2014 alongside Nick Rhodes of the popular eighties pop band Duran Duran. The company provides personalized skin care products by creating bespoke serums tailored to the genetic profile of individual customers.

Plans are also afoot for a further lab-on-a-chip venture alongside another GeneU colleague, Dr. Maria Karvela. This project will seek to give consumers detailed information on the most compatible food and lifestyle products they should buy based on an analysis of their DNA.

With many countries recording increased levels of chronic conditions such as obesity and heart disease – stemming from lifestyle changes – the thought process behind the concept is clear.

“We don’t want to preach to people. We just want them to use the DNA as their authority and rearrange the products (they buy),” Karvela explains. “If they want to buy biscuits, that’s fine. But let’s find the most healthy biscuits for you, for your genetic makeup.”

Privacy matters

Unlike many other gene technologies and projects, Toumazou and Karvela believe one key selling point of the lab-on-a-chip is privacy – be it in the medical or the consumer arena.

Most commercial genome sequencing services on the market require samples to be taken, sent via post and then analyzed in a lab. Some firms will then pass this information onto external partners.

Toumzaou’s product is self-administered, enabling the samples, analysis and results to stay in the hands of the consumer. The information on the chip is not added to any database, server or sold on to a third party and the chip can be destroyed immediately after use.

Toumazou is wary of big data in genetics and is firm in his conviction that such uniquely personal information should remain private.

“I love big data from the point of view of say population databases,” Toumazou explains. “But if you’ve just got databases of everyone’s predispositions, that could go anywhere.”

Quite simply, he says: “It’s my DNA, so it’s my choice.”

And with that principal and unique selling point, Toumazou hopes his products will have the edge in a rapidly-expanding personalized healthcare market.

“We are proud of this technology as it empowers the consumer to look after their own health,” Toumazou says.

“You’re healthier. You feel better. You’re seeing the difference. All those things are self rewards.”

CNN’s Jim Stenman contributed to this report.