The world of DNA testing is changing fast and the race is on to provide cheap, quick genetic diagnoses for patients. Symon Cotton, Head of Life Sciences takes a look at the opportunities on offer for companies working in this dynamic field.

There is no doubt, these are exciting times in the diagnostic world. The potential for obtaining genetic based diagnostics swiftly and affordably for patients is growing all the time. So what do participants in the genome testing industry need to be aware of to make the most of these opportunities?

For years, patients and clinicians have been used to the assumption that a genetic test could be relatively slow, expensive and difficult to achieve. Yes, finding genetic answers is currently possible, but practicalities mean that such testing is often a last resort, brought out as the very last weapon in the armoury after clinicians have tried everything else.

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For, say, a newborn baby with an undiagnosed condition, a wait for genetic test results could well be acceptable and the high cost of the process considered worthwhile. But in more acute or everyday cases, such as a bacterial infection, the possibility to test the genome of the bacteria quickly and easily could allow a clinician to choose the right antibiotic. A simple on-the-spot genetic test could be life-saving. Until now, however, such a test is often impractical.

Child and clinician taking blood sample

But all that is set to change. A changing patent landscape means that many innovative companies will be able to enter the market before too long. Prices will inevitably come down and genome testing is likely to become device-agnostic, no longer requiring specific (and costly) patented hardware. We can certainly look at this as a democratisation of the diagnostic process, making such tests available to patients far more widely in the future. It can, of course, only be helped by the increase in computing power set to become available with the advent of quantum computing.

Digital microfluidics

There are several factors that can help companies make the very most of the opportunities opening up in this field over the next few years. One of the most significant is the advances made in digital microfluidics. The control and manipulation of small droplets, a fraction of a millimetre in diameter, is now a possibility. For example, a project called CellPreserve, a system for managing biopsied cells based around the use of an ordinary printed circuit board (PCB). On this, a single cell is held in a droplet of growth media. The electronics of the circuit board allows the droplet to be moved around the board, split and its growth media replenished in various ways, extending the lifespan of the cell. In essence, it is a tiny incubator and laboratory for each cell. Imagine if such miniaturisation could be used as part of genetic testing, making on-the-spot diagnosis available in every surgery and hospital.

As you can imagine, there are considerable micro-engineering challenges to overcome when making this circuit board, as it combines microfluidic work and electronics with a scientific understanding of how a cell survives. My sense is that such expertise will prove invaluable in the development of tomorrow’s genetic testing capabilities.


Another field that is developing at speed right now is photonics. The ability to notice and analyse single photons is one we have been working on for several years and we believe it will be a crucial contributor to making gene testing kits smaller and more streamlined. Recently we worked with Cambridge University on a project creating instrumentation at the NanoPhotonics Centre, based within the Cavendish Laboratory to spot photons and also track, time and analyse them. The study was led by Professor Jeremy Baumberg, a world authority in the study of how nano-materials interact with light, especially ones that can be fabricated on a large scale and have a practical use. His team’s research was published in the journal Optica.

The challenge was to examine nanostructures at a tiny level of detail, reducing the amount of laser light necessary down to individual photons so that Professor Baumberg and his team could track each photon’s progress in picoseconds. This called for a molecular probe with a very low power stream of photons. The aim was to extract signals at low single-photon count rates from large backgrounds. We developed a single-photon lock-in detection scheme based on continuous photon time stamping, which improved the signal-to-noise ratio by more than two orders of magnitude. Again, allowing for such detail at nano level will help make gene tests smaller, more portable and cost-effective.

We expect to see more innovative uses of optical technologies; for example, a neuromorphic camera work like the human eye, able to spot changes and filter out irrelevances in a split second, combined with machine learning and artificial intelligence. An example of this is PureSentry, a fully automated contamination detection system.

Optically classifying cells

Artificial intelligence

Finally, of course, as well as digital fluidics and photonics, it will be advances in AI and machine learning that play a major part in making genetic diagnosis swifter and more efficient in the future. Indeed, we would say that handling data effectively is key to success in genetic diagnostics, which has so often been likened to looking for the proverbial needle in a haystack. If you are searching for a small change (or pattern of changes) in a big data set, AI is the way to do so quickly and affordably. 

Looking forward, the future of genetic testing looks bright indeed, with multiple opportunities for innovation in this exciting field. By 2030, our prediction is that genomic diagnosis could become commonplace. We are looking forward to working with our clients to make this exciting vision of the future into an everyday reality for clinicians and patients alike.

싸이먼 코튼(Symon Cotton)

사이먼 코든 박사는 캠브리지 컨설턴트 생명공학 사업부문장이며, 물리학 및 컴퓨터 공학 분야 경험을 가진 영국 버밍햄 대학 전산의료 물리학 박사이다. 그는 여러 스타트업을 설립하여 신규 의료 진단법을 시장에 출시했으며 현재는 혁신 의료 기기 개발을 위해 수많은 기업들과 협업하고 있다.