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Reaction to the $1,000 Genome

June 24, 2014
System promises to sequence tens of thousands of human whole genomes a year in a single laboratory. What do the first customers think?

Life science technology company Illumina recently launched a sequencing platform that it claims will enable the $1,000 genome. The HiSeq X™ Ten Sequencing System comprises 10 ultra-high-throughput sequencers which together can sequence more than 18,000 genomes per year, making human whole-genome sequencing more affordable and accessible than ever before.

The system builds on the proven performance of SBS (sequencing by synthesis) technology and features patterned flow cells that contain billions of nanowells at fixed locations; this, combined with a new clustering chemistry, generates data density of 6 billion clusters per run. Add in the state-of-the art optics and faster chemistry, and the result is a tenfold increase in daily throughput over the current HiSeq 2500 high-throughput sequencing system.

The new platform is sold as a set of 10 or more ultra-high throughput sequencing systems, each generating up to 600 gigabases per day, per system, providing the throughput to sequence tens of thousands of high-quality, high-coverage genomes per year.

Among the first customers for the system are the Garvan Institute of Medical Research in Sydney, Australia; the Broad Institute in Cambridge, MA, and the CLIA (Clinical Laboratory Improvement Amendments) laboratory of Macrogen in Rockville, MD. A system has also been bought by Novogene, a leading genomics service provider based in Beijing, China.

The initial customer reaction has been enthusiastic. “The HiSeq X Ten should give us the ability to analyse complete genomic information from huge sample populations,” Eric Lander, founding director of the Broad Institute enthused. “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.”

Jeong-Sun Seo, Chairman of Macrogen said that his company “will use the HiSeq X Ten to continue a collaboration with the Genomic Medicine Institute of Seoul National University focused on sequencing Asian populations in order to build a genomics database for use in medical research and healthcare applications.”

John Mattick, Executive Director, Garvan Institute of Medical Research stated that, “The sequencing capacity and economies of scale of the HiSeq X Ten facility will allow Garvan to accelerate the introduction of clinical genomics and next generation medicine in Australia.”

And Ruiqiang Li, CEO of Novogene said that, “The HiSeq X Ten will enhance our capability for cancer genomics and for mapping human disease genes, while enabling us to do population sequencing.”

Illumina is confident in its claim that the new platform is a world first in providing full coverage of human genomes for less than $1,000. This includes deprecation on the instrument, DNA extraction, library preparation and estimated labor costs. The system has been purpose built for population-scale human whole genome sequencing to aid discovery of genotypic variation. By sequencing tens of thousands of samples annually with high quality and high coverage, it will provide a comprehensive catalogue of human variation within coding regions and outside of them. Jay Flatley, CEO of Illumina: “The ability to explore the human genome on this scale will bring the study of cancer and complex diseases to a new level. Breaking the ‘sound barrier’ of human genetics not only pushes us through a psychological milestone, it enables projects of unprecedented scale.”