Given its first public viewing at a consumer electronics show in Las Vegas, Life Technologies Corporation's Ion Proton sequencer uses microchips similar to those found in digital cameras to detect chemical changes rather than light. The device costs just under £100,000.
Getting the cost of sequencing down to under the $1,000 per genome has long been considered a milestone in the development of personalised medicine. The Ion Proton sequencer could make it feasible for research institutes and hospitals to sequence large sections of DNA rapidly, and at an affordable price. Three major US research institutes - the Baylor College of Medicine, the Yale School of Medicine and the Broad Institute in Massachusetts – have already placed orders for the machine.
'A genome sequence for $1,000 was a pipe dream just a few years ago', says Richard Gibbs, director of the Human Genome Sequencing Center at Baylor. 'A $1,000 genome in less than one day was not even on the radar, but will transform the clinical applications of sequencing'.
The first batch of microchips for the machine will have the capability to sequence exomes, the part of human DNA that actually codes for functional proteins. The company plans to release a second-generation chip at the end of 2012 with the ability to decode the entire three billion base-pair human DNA sequence.
The availability of low-cost and rapid DNA sequencers is likely to have a major impact on public healthcare. For instance, it will allow rapid diagnosis of disease markers, such as those for breast and prostate cancer, Alzheimer's disease and cystic fibrosis. It might even help doctors prescribe medication for patients, using gene markers to distinguish between patients who are able to tolerate a particular drug and those who might be more susceptible to side-effects.
However, a large chunk of the information derived from the sequencers might still be hard to decipher until we are better able to understand the links between genetics and disease. As Chad Nussbaum, co-director of the Genome Sequencing and Analysis Program at the Broad Institute, commented: 'You've got to glean the news out of the genome and you've got to give it to the doctor in a usable way'.
Ethical concerns have been also raised about the impact of accessible genome sequencing. 'We need to be careful how we utilise this information', said Richard Lifton, chairman of the genetics department at Yale University. 'Do you tell a newborn's parent's [of their child's] apoE status?' ApoE is a form of a gene which raises the risk of Alzheimer's disease.
Another biotechnology firm, Illumina, has announced plans for a similar benchtop sequencer, which is due for launch later this year.