Transformational UK diagnostic invention to combat superbugs
Chris Toumazou is founder and Executive Chairman of DNAe and inventor of semiconductor based DNA sequencing technology. In this Q+A, he talks about its application in infectious disease diagnostics and its potential to change the way we treat infectious diseases.
This is a UK invention backed with over $50 million from a US funder. What is it for?
CT: In September DNAe was proud to announce that it had secured up to $51.9 million in grant funding from the US government’s Biomedical Advanced Research and Development Authority (BARDA) to further develop our semiconductor DNA sequencing platform, Genalysis, for rapid diagnosis of antimicrobial resistant infections and influenza, two of the most significant threats to global health.
Genomic information derived from DNA sequencing is transforming many areas of medicine. This is the first next generation sequencing platforms (NGS) platform supported by BARDA, with game-changing potential in the diagnosis and treatment of infectious diseases.
What exactly is a semiconductor DNA sequencing platform?
CT: Semiconductor DNA sequencing works by enabling the DNA code to be read directly on a semiconductor chip by measuring the ions released when component molecules of DNA (known as nucleotides) bind against their complements on the strand of DNA being sequenced. It is one of a number of so-called next generation sequencing platforms (NGS). By combining NGS with other technologies in an entirely closed system, semiconductor sequencing lends itself particularly well in situations where time of diagnosis can be a matter of life and death.
DNAe’s Genalysis platform utilises semiconductor NGS to rapidly identify the presence of an infectious organism in a blood sample. Our first application, which is already well progressed and will go into beta testing next year, is to identify the infectious agent behind sepsis.
The grant from BARDA enables us to extend the applications of our NGS platform into antibiotic resistance and other areas where rapid accurate diagnosis is critical – like flu.
How will the development of this technology help tackle antibiotic resistance?
CT: Of the 40 million people given antibiotics annually for respiratory issues in the US, 27 million receive antibiotics unnecessarily. To prevent the increase in antibiotic resistance and protect the effectiveness of existing and new antibiotics, developing a diagnostic that enables the appropriate antibiotic to be used as a first response is vital. Without this, developing new antibiotics alone will not solve the problem.
Sequencing technology, as long as it is simple and fast to use, can provide critical insight into the identity of the infection and any antimicrobial resistance.
Why the initial focus on sepsis?
CT: Sepsis is a huge unmet need that results in 44,000 deaths in the UK every year – more than bowel, breast and prostate cancer combined. In the US, it’s over 200,000 per year – and that is almost certainly an underestimate. Caused by an extreme immune reaction to an infection the body’s vital organs come under attack with potentially fatal consequences.
Because the right treatment in the early stages of sepsis is so crucial to outcome and mortality rate, rapid diagnosis has the potential to save lives. Hence DNAe’s first product will be a test for bloodstream infections, able to identify the cause of the infection within two to four hours, enabling the infection to be treated quickly with the appropriate antibiotic.
In what settings is the technology expected to work or have uptake? Is this aimed at hospital inpatient use, or wider?
CT: The technology will initially be used in rapid turnaround settings within hospitals. It does not require specialist laboratories or expertise. Because the entire process is carried out within a disposable cartridge, the system can be operated at the push of a button without the need for specialist personnel, allowing it to be used 24/7. The output is a clinically actionable report for the physician.
What priority does the development of the AMR diagnostic have compared to that for the influenza test?
CT: A common sequencing platform will be used for both applications. Most of the work, particularly at the start of the project, will therefore be used to progress both applications simultaneously. The platform will then be used as the core technology to develop separate tests in these two areas.
Having won the European Patent Office’s European Inventor Award for this invention in 2014, I am excited that within two years we are so close to getting our tests out to specialists for testing – and by the end of this decade I am confident that it will be in wide use for many infection situations, transforming outcomes and saving lives. That vision gives me hope and motivates me every day.