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New device sequences genome in 2 hours

31st January 2012

Twelve years after the first scientists sequenced the human genome, a new gene sequencing machine could revolutionise the way the medical profession functions.


Essentially, the device would allow doctors to sequence any given patient's genes, run those genes through a database, and identify possible risk factors, all in a matter of hours.

All the doctor has to do is place a suitable sample onto a semiconductor card, slot the card into the machine, and wait.

The semiconductor cards are made out of the same materials as a standard computer processor.

While existing gene sequencers would theoretically allow medical practitioners to do the same thing, they also involve an extraordinary amount of error-checking.

The error-prone nature of standard gene sequencing technology requires the help of a careful, meticulous operator.

Currently, only the very wealthy are able to foot the bill for sequencing an entire human genome.

However, the new device, known as the Ion Proton, does not require an operator.

Rather, the Ion Proton uses a semiconductor chip, making it effectively 'calculate' a person's genome the same way computers process data.

The idea is that such a technology will allow doctors to prescribe precisely targeted therapies within hours of first seeing a person.

The device will also be useful when sequencing the genomes of superbugs.

If a superbug outbreak were to cause a rash of deadly infections, as the enterhaemorrhagic strain of E. coli (EHEC) did in Germany last year, health officials would be able to identify the pathogen within hours.

Currently, health officials are required to send samples of such superbugs to laboratories specialising in the time-consuming and redundant process currently used to sequence genomes.

In such situations, the device could also save thousands of people's lives.

Researchers will also benefit from the technology, since they will be able to sequence the genomes of new viruses.

Police investigators will be able to avoid contaminating evidence at crime scenes.

The Ion Proton is the brainchild of Jonathan Rothberg, a biotechnician whose company, Ion Torrent, produces the Ion Proton.

Rothberg said that his device was the first machine in the world that could sequence an entire human genome for less than US$1,000 (£63).

He said that the device could complete its job within two hours, and that previous machines required weeks to do the same task.

However, although the Desktop Ion Proton may seem like an amazing advancement, it is simply a step up from the most recent technology.

Rothberg said that the Desktop Ion Proton was based on the gene sequencers used during the outbreak of EHEC in Germany last year, which killed 52 people and damaged the health of thousands of people.

He said that he had imagined the design for his device while his newborn son, who had difficulty breathing, was in hospital.

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