EU project developing DNA diagnostic device for doctor's desktop
10 December 2008
If doctors were able to conduct efficient genetic analysis at the
point of care, using inexpensive, portable equipment, it would
revolutionise disease detection and treatment. European researchers are
close to enabling this revolution.
Today, anybody getting tests done in a GP’s surgery or hospital
outpatients will usually have to wait several days before getting any
Using current technology, it is not possible to carry out a complete
DNA analysis on a single device, and several steps are required with
expensive and cumbersome equipment.
Because of the different steps involved, and the need to move blood
and tissue samples from one location to another, the potential for human
error can reduce the reliability of the test procedures.
Now an ambitious EU-funded project, SMART-BIOMEMS, is in the process
of fabricating a novel microsystem — a lab on a microfluidic chip — that
can be used in a portable diagnostic device, to simultaneously and
automatically analyse various DNA samples with high precision.
Explains project coordinator Gianluca Vezzani: “What we are
developing here is a comparatively inexpensive, easy-to-use and portable
point-of-care system which will have very real clinical benefits.”
He says that, while the SMART-BIOMEMS system could be customised for
any field where DNA testing is used, the prototype has been specifically
designed for cancer testing and diagnosis.
“Because there are biochemical reactions occurring on the device, it
has to be set up with specific reagents and biological protocols
appropriate to the task at hand, and we chose cancer for the initial
testing because it is such an important field.”
Signs of a working prototype
Since the project kicked off in December 2005, a lot of initial
research and testing of different components of the system have been
carried out. In order that a prototype device could be properly
assembled and validated, the duration of the project has been extended
by four months until the end of March 2009. By that time, Vezzani is
confident a working and fully tested prototype will be ready for
For the final validation of the system, a clinically relevant human
gene, TP53, will be tested. It is well known that mutations in this gene
can potentially be the cause of cancerous tumours.
“We will use a known sample — where we know the mutations — and test
the capability of the system to identify these mutations. We will then
compare the results of our tests with results from a conventional
testing procedure to check on the accuracy of the results and the time
our microsystem takes to complete the analysis,” he says.
In the testing, a DNA sample will be inserted into the device, the
power switched on to move the fluid sample within the microfluidic chip
by the pressure control unit, and from there the whole process is
automatic, thus eliminating the possibility of human error or
contamination of the sample.
The device will be connected to a standard PC equipped with a camera
to acquire images of fluorescence transmitted by the device. Software,
which has been specially developed by the project, analyses the images
and displays the results of the testing on the computer monitor.
“The idea is to detect cancer at a very early stage, before it has a
chance to spread, because we know that specific mutations in specific
genes are likely to be the cause of potential tumours. The doctor can
take samples on the spot, feed them into the device, and get a diagnosis
in a short time span,” Vezzani says.
Once the devices are commercialised, doctors can routinely and
affordably carry out on-the-spot checks of patients who are considered
to be cancer risks, and catch the disease at an early enough stage to
treat it — saving thousands of lives.
From cancer to other applications
Diagnosing cancer is just the start for the SMART-BIOMEMS system,
however, with other potential applications ranging from any sort of
medical testing of DNA samples, to animal health and livestock breeding
The only restriction is that samples must be liquid, so if, say, firm
plant tissue needs to be tested it must be liquidised first.
“Otherwise it is simply a question of storing different reagents in
different chambers on the system depending on what it is that you want
to test,” says Vezzani. “SMART-BIOMEMS is what we call a fully
integrated microfluidic device which moves a liquid plug of a specific
volume through a network of micro-channels and chambers where the
reactions take place.”
Vezzani says there are companies involved in the project that are
looking at patenting some parts of the core technology which has been
developed with a view to commercialisation.
“Should the prototype work, which we are sure it will do, we think it
would take two to three years after the end of the project to see a
commercial device, and these could be available by 2012. Right from the
start, we have tried to design a cost-effective system.”
So in a few years’ time, doctors throughout the EU may have a
SMART-BIOMEMS diagnostic system sitting on their desks next to their
ICT Results: http://cordis.europa.eu/ictresults
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