20 January 2014

Dr Rachael Panizzo By

Appeared in BioNews 738

The $1,000 genome may have arrived, an achievement which would mark a significant milestone in the application of genetic science. The US $1,000 price tag for sequencing a human genome has long been seen as the threshold at which large-scale human genomics research and personalised medicine would become affordable, but has proved hard to attain.

The biotechnology company Illumina announced that its new high-speed sequencing supercomputer – named HiSeq X – will be able to sequence 20,000 human genomes per year, at a cost of $1,000 each. The new sequencer will launch 'the supersonic age of genomics', according to Jay Flatley, the company's chief executive officer, speaking at the JP Morgan Healthcare Conference in San Francisco.

Several commentators anticipate considerable impact in cancer research. 'Over the next few years, we have an opportunity to learn as much about the genetics of human disease as we have learned in the history of medicine', said Professor Eric Lander, founding director of the Broad Institute of Massachusetts Institute of Technology and Harvard University, and one of the first customers for the HiSeq X.

Faster and cheaper technology would allow researchers to sequence the genomes of hundreds of thousands of people, gaining a better understanding of the complex genetic variation that can lead to cancer and many other diseases. Population-level genomics research – such as the UK's 100K Genomes project that aims to sequence 100,000 NHS patient genomes over the next five years – should become more cost effective.

Personalised medicine may also benefit as patients can have their genomes sequenced or tumour genetics analysed more affordably, with the information used to guide treatment. However, even if Illumina has produced the first $1,000-a-genome sequencer, it will still be a while before personal genome sequencing will be available to the public at that price.

It took 13 years and $3 billion to sequence the first human genome more than a decade ago. According to Bloomberg, the current cost runs at around $10,000. Illumina attributes the further drop in cost mainly to improvements in the chemical reagents involved in sequencing - more efficient enzymes and brighter fluorescent dyes needed to identify the units of DNA.

Talking to Nature, Dr Michael Schatz from Cold Spring Harbor Laboratory in the USA said Illumina had made 'a major human accomplishment on par with the development of the telescope or the microprocessor'.

'If there was any doubt to if genomics would ever be able to reach the everyday man, at this price point and efficiencies it is absolute certainty', he said.

The $1,000 price tag includes the cost of reagents ($797 per genome), the cost of purchasing the machine ($137 per genome) and the labour costs involved in preparing samples and running the machine ($55 to 65 per genome). It does not, however, include the costs of analysing the data, or overhead costs such as electricity.

The HiSeq X sequencer is the size of a large photocopier, costs $1 million and is only sold in units of ten or more. There are already a number of high-profile customers, including the Broad Institute, the Garvan Institute of Medical Research in Sydney, Australia, and the biotechnology company Macrogen in Seoul, South Korea.

Other companies - Ion Torrent, owned by Life Technologies (see BioNews 640), and the UK-based Oxford Nanopore - have previously promised products capable of sequencing a human genome for $1,000, but these have yet to materialise. The HiSeq X is expected to be delivered to its first clients by March 2014.