$1000 Genome Now a Reality: Illumina

Posted in IVD by Brian Buntz on January 17, 2014

The mythic $1000 genome is here, thanks to a new machine developed by Illumina (San Diego), which can reportedly sequence an entire human genome in a number of hours. The system, known as the HiSeq X Ten, was announced at the J.P. Morgan Healthcare Conference in San Francisco. Comprising a series of at least ten HiSeq X sequencers, the package was designed for high-throughput labs. The breakthrough could fuel advances in the field of personalized medicine, making it possible for clinicians to customize patients' treatment regimens on a genetic basis.

With a price tag between $2 and $3 billion, the human genome project was completed to much fanfare in 2000. The costs of sequencing the genome have fallen at an astoundingly rapid clip ever since. As genomics technology accelerates exponentially, its price has fallen by a margin faster than electronics, outstripping the growth curve predicted by Moore's Law for computer hardware.

HiSeq X Ten

The thousand-dollar genome had long been considered a benchmark in the field—one that was rapidly approaching. For the sake of illustration, the cost of sequencing had fallen from multiple billions of dollars around the turn of the century to a quarter of a million dollars a decade ago. By 2010, the price had fallen to $5000.

The pace of technological acceleration has increased lately, thanks to the work of companies like Illumina, Life Tech, and Oxford Nanopore Technologies.

The HiSeq X Ten represents a significant increase in speed over Illumina's HiSeq 2500, which debuted in early 2012. The system can process as many as 600 gigabases each day, making it capable of processing tens of thousands of genomes each year.

Check out the conference track on inspiring design, prototype, and usability from February 10 through 13 at MD&M West in Anaheim, CA.

While the price of sequencing has fallen significantly, the actual technology remains expensive. Each HiSeq X machine has a price tag of roughly $1 million. Illumina claims that the price tag of the technology was factored into the $1000 per genome figure. As ArsTechnica explains:

Despite the high cost of entry, however, Illumina claims that the amortized price is included in their $1,000 figure—as are the costs of preparing the DNA and consumables used during the reactions, even the labor needed to get it all to happen. In other words, a single genome will still cost a fortune; buying the system and cranking out genomes nonstop for a few years will mean that the average cost drops to near the $1,000 price tag.