Mark Henderson. Science Editor
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A powerful new approach to reading genetic codes has been tested for the first time in a study that could transform the prospects of personalised medical treatment based on individuals’ DNA.
The technique, developed by British scientists, offers a means of sequencing the human genome much more cheaply and quickly than existing methods. It should be possible to sequence a patient’s entire genetic profile for little more than £500 within five years, making it affordable to the NHS and private health insurers.
This would allow doctors to use DNA to predict and prevent conditions such as heart disease and diabetes, and to prescribe drugs more effectively.
A landmark test of the technology, known as nanopore sequencing, has confirmed that it can accurately identify the four letters or “bases” of DNA. The findings suggest that it will play a key role in bringing genome sequencing into mainstream medicine, as the head of the world’s leading company in the field predicted in this newspaper two weeks ago. Jay Flatley, the chief executive of Illumina, told The Times that he expected every baby born a decade from now to have its entire genetic code sequenced.
Last month Illumina invested $18 million (£12.6 million) in Oxford Nanopore, the company that developed the technique, and signed an exclusive commercialisation deal.
Gordon Sanghera, chief executive of Oxford Nanopore, said that the results promised a “step-change” in genome sequencing. “This platform will allow us to deliver a genome sequence for $1,000 (£700) or below,” he said. “We’re moving from the information age to the genetic information age, which is really exciting. So many people want to look at their DNA and use it – and this technology has the potential to deliver that.”
DNA sequencing was developed in the 1970s by Fred Sanger, the only Briton to win two Nobel prizes, and the first draft of the human genome was published in 2001 at an estimated cost of $4 billion (£2.7 billion).
New technology has since cut the cost considerably – a company called Complete Genomics announced this month that it would soon be offering sequencing for $5,000 (£3,500) a time – but it remains out of reach of most individuals and health services.
Nanopore sequencing is expected to be much cheaper because it gets around the main problem that has kept the cost of conventional methods so high. These rely on tagging the four DNA letters (A, C, G and T) with fluorescent dyes, and both the chemical needed to stain samples and the cameras needed for reading them are very expensive.
Under the new approach, no tags are used. Individual letters of DNA are instead detached from a strand using a special enzyme, and fired one by one through a tiny biological structure called a nanopore, which contains a hole of less than a tenth of the diameter of a human hair. As the letters move through the nanopore, they block an electrical current that is passed across it. Each letter disrupts the current by a different amount and, by measuring this, it is possible to identify it as A, C, G or T.
Oxford Nanopore has already developed chips containing hundreds of nanopores, which could be used by a machine to sequence huge amounts of DNA quickly and cheaply.
In a paper published in the journal Nature Nanotechnology, scientists from the company have confirmed that the technology can read DNA accurately, without any chemical labelling.
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