A US biotechnology company will on Tuesday announce the first machine that can read all 3bn letters of an individual’s DNA for as little as $1,000 – a development that will greatly accelerate medical treatment tailored to a patient’s genes but also raises ethical questions.
Life Technologies says its new Ion Proton sequencer – a $149,000 instrument about the size of a laser printer – can read a whole human genome in less than a day for $1,000 including all chemicals, running costs and preliminary data analysis.
The landmark development, expected to be matched by other companies soon, will greatly increase knowledge about the links between genes and disease, while guiding patients – particularly those with cancer – to receive the treatments most likely to work with their individual genetic profile.
However, some fear that scientific enthusiasm for mass decoding of personal genomes could lead into an ethical minefield, raising problems such as access to DNA data by insurers – especially if most babies have their genome read at birth – and by employers.
For a decade since the completion of the $3bn international research project to decode the first human genome, the cost of DNA sequencing has been falling faster than almost any other field of technology, as new methods are introduced to read the genetic code shared by all life on Earth.
“A genome sequence for $1,000 was a pipedream just a few years ago,” said Richard Gibbs, director of the human genome sequencing centre at Baylor College of Medicine in Houston. “[It] will transform the clinical applications of sequencing.”
Baylor is one of three large US medical centres, along with Yale School of Medicine and the Broad Institute, that will receive the first Ion Proton sequencers at the end of January, said Jonathan Rothberg of Life Technologies, who invented the technology used. Deliveries to other academic and commercial customers will follow over the next few months.
Sequencing a human genome on most of the instruments working today costs $5,000 to $10,000 and takes up to a week, using optical technology to read the individual letters of DNA that are tagged with fluorescent marker. The Ion Proton machine cuts that substantially, by using semiconductor technology to read DNA directly through its chemistry.
Life Technologies will not have the $1,000 genome field to itself for long. Other gene sequencing companies, such as Illumina of the US and Oxford Nanopore of the UK, are rapidly developing competing systems – and the cost is expected to plummet further, leading some to speculate that it will become routine for every baby to have its genome read at birth.
Mr Rothberg estimates that between 5,000 and 10,000 people have had their full genome sequenced so far, almost all for research rather than medical treatment. “I believe millions or even tens of millions of people will have their personal genome read over the next decade,” he said.