Diagnostic superchip could soon be available on NHS
A software company in Cambridge has branched out to develop a product that could genuinely revolutionise the diagnosis of thousands of serious illnesses.A software company in Cambridge has branched out to develop a product that could genuinely revolutionise the diagnosis of thousands of serious illnesses.
BlueGnome, which previously specialised in bioinformatics software, has pioneered a new DNA microarray chip that has already been shown to save time and money, and could ultimately prove to be life-saving.
The company’s CytoChip will allow genetics labs at hospitals to test for 30,000 genetic conditions at once, in a single test, and crucially, diagnose conditions that have eluded definitive diagnosis using existing technologies.
The CytoChip is able to pin-point the genetic abnormalities that cause severe, but difficult to diagnose conditions such as DiGeorge Syndrome and the currently impossible, such as mental retardation.
BlueGnome is also working to be able to test for predisposition towards preventable diseases such as cancers. The groundbreaking technology has already gone into production and has already been tested in real-world clinical applications.
Now the company is planning to step up production and is targeting healthcare providers in the UK, Europe and Australia.
It plans to push into the US in the medium term but is aiming to build critical mass in these initial markets before then.
Major sales are already in the pipeline according to the company, and it plans to make official announcements within the next few months.
BlueGnome CEO, Dr Nick Haan said: "There are other microarray chips out there, obviously, but not of sufficient quality. They are OK for research, but not for clinical use.
"Our BlueFuse software is the leading product in the space and our customers in the clinical genetics field commented to us that they wished that the consumable tests were of a comparable quality to our software.
"We saw this as a major opportunity, and leveraging our contacts within the microarray world, we designed in a host of innovations that make the chip reliable enough to use in a clinical context."
The nature of those innovations remain under wraps subject to the granting of a number of patent applications.
At a time when the National Health Service is spending millions to harness the benefits of IT and automation, Dr Haan believes that the UK alone will prove to be a valuable market for CytoChip.
The chip will be priced at "a few hundred pounds" and the company "reasonably expects" to ship 10,000 a year in the UK alone within the next two to three years.
Currently, patients presenting with a clinically significant genetic condition, such as Down’s syndrome, have their DNA tested by karyotyping, a low resolution technique where a patient’s chromosomes are visually checked for large abnormalities through a microscope.
A clinical geneticist may then make a diagnosis immediately or, where the resolution of karyotyping is insufficient, order a small number of higher resolution FISH (fluorescent insitu hybridisation) tests to probe whether specific parts of the patient’s genomic sequence are abnormal.
The CytoChip represents a major step forward by allowing up to 30,000 FISH probes to be tested in parallel using an experimental technique known as arrayCGH, thereby enabling a high resolution screen of all chromosomes to be completed in a single, cost effective experiment.
Rather than measuring the levels of gene expression, CGH aims to understand which genetic sequences are present or absent in the underlying genomic DNA.
Many cancers are believed to occur from mutations either inherited or environmental. CGH provides a means of comparing DNA from healthy cells to those in a cancerous cell.
This provides a useful tool in determining the physiology of the cancer and also a potential tool for early diagnosis.
The healthy templates against which samples are checked have been made available in the UK and Europe under an exclusive licence from the Roswell Park Cancer Institute in the US.
Nabeel Affara, Professor of Molecular Genetics at the University of Cambridge and a leader in the microarray field, described BlueGnome’s technology as "an array with significantly improved diagnostic characteristics."
Manufacturing of the CytoChip™ will be undertaken in collaboration with scientists formerly at BioRobotics, the Cambridge developer of the world’s first commercial microarray robot.
Dr Haan said: "This may be seen as a departure for us as a software company, but for us it is a logical progression.
"Considered alone, the CytoChip is a real innovation, providing superior quality and diagnostic power.
"The true potential of the technology for clinical applications is, however, revealed when the chip is combined with our software for automated and reproducible array-CGH analysis, BlueFuse."
BlueGnome was formed in 2001 by Dr Haan and Graham Snudden, a software entrepreneur whose background also includes software aces, i2.