Human genome sequencing is a lengthy and costly process.  However, that may soon be a thing of the past.  Illumina has recently announced its new HiSeq X Ten machine, which can offer whole genome sequencing for $1,000.  The machine consists of ten ultra high-throughput sequencers, which have been purposefully built to sequence, on a large-scale, whole human genomes.  This machine will allow tens of thousands of genomes to be sequenced in a single lab, offering the capacity for more than 18,000 genomes to be sequenced in a single year.

According to Forbes, the machine, which is actually a combination of ten machines working together, will cost $10 million to purchase.  Already, three complete systems have been purchased by Macrogen, the Harvard-MIT Broad Institute in Cambridge, and the Garvan Institute of Medical Research in Australia.  The director of Broad Institute has lauded the development as “extremely exciting” because of the opportunity to learn as much about the genetics of medicine now as has ever been learned in the history of medicine.

It is a milestone of huge psychological importance for the scientists who study human genetics and the industry of biotechnology companies creating new diagnostic tests and drugs using the technology.  Initially, the $1,000 number was put out there by researchers as kind of a thought experiment, or a mythic totem to aspire to.  Less than a decade ago, the cost of decoding a human genome was $250,000, but thanks in part to Illumina, the efficiency of the machines has risen at an exponential rate, outpacing the famous Moore’s Law that describes the improvement of the semiconductor chips used in supercomputers.

Actually hitting the $1,000 mark has proved elusive.  Life Technologies, the closest competitor of Illumina, announced a year ago that it would launch a machine capable of cranking through DNA basepairs at this rate.  However, Life Technologies still has not brought that machine to market.  Even if it were being sold, it would not be able to hold the title of $1,000 genome sequencing.  In particular, the cost estimate only considered chemicals consumed in the process of sequencing.

Illumina, however, has included the costs of chemicals in sequencing, of preparing the samples, and amortization of the expensive machine.  Their estimates are still criticized by some scientists as not including realistic labor costs.  However, Forbes responds by stating that other estimates have overstated how much labor should cost for sequencing.  Illumina has stated that it will take some time for the machine to reach its $1,000-per-genome benchmark.  Specifically, sometime next year it will reach this capacity.