Illumina claims the $1,000 genome crown

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.