Illumina breaks the $1,000 genome barrier

(This blog post was first published on Oxbridge Biotech Roundtable Review, January 14, 2014)

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Move aside 23andMe: why spend $99 for a partial genetic profile of currently available disease-associated genes if $1,000 buys your entire genome? On January 14th Illumina, Inc. announced they have created a system to sequence an entire human genome for $1,000. The $1,000 genome has been the carrot on a stick for the DNA sequencing industry for more than a decade and Illumina’s CEO, Jay Flatley, likens the achievement to the breaking of the sound barrier in this statement in the company’s press release:

“With the HiSeq X Ten, we’re delivering the $1,000 genome, reshaping the economics and scale of human genome sequencing, and redefining the possibilities for population-level studies in shaping the future of healthcare. 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. We are excited to see what lies on the other side.”

In less than a decade, the price of genome sequencing has gone from $250,000 to $1,000. At this rate, DNA sequencing technology is outpacing Moore’s Law, the governing idea in computer processing that transistor number and, thus, speed double every two years. The breakthrough machine, called HiSeq X Ten, is actually a collection of ten machines with a price tag of $10 million. The collaborative machines can produce “factory scale” sequencing, promising tens of thousands of human genomes per year per lab. The HiSeq X Ten improves upon the currently available HiSeq® 2500 and remains based on Illumina SBS technology. To attain the increase in throughput, Illumina engineered patterned flow cells with billions of nanowells and developed novel, speedier chemistry. This results in a 10X increase in throughput over the HiSeq® 2500.

With the January 14th announcement, Illumina trumped competitors like Pacific Biosciences and Life Technologies, which are also developing faster and cheaper sequencing technologies. Illumina claims the win by calculating the $1,000 per genome cost including instrument depreciation, DNA extraction, library preparation, and estimated labor. This estimation has met with some skepticism but Mick Watson provides a quick math check in a recent blog post that supports Illumina’s assertion.

With a $10 million price tag, the system itself remains out of reach for most institutions, but Macrogen in Seoul, South Korea; The Harvard-MIT Broad Institute in Cambridge, MA; and the Garvan Institute of Medical Research in Sydney, Australia have already purchased systems. The challenge now falls on biomedical researchers to effectively manage the heaps of data that will be generated and to efficiently apply the data to tangible disease research. Foundation Medicine is already planning to use HiSeq X Ten in oncology studies to develop better cancer treatments and Regeneron has partnered with Geisinger Health System to apply the data to improved drug discovery. In general, the implications of a $1,000 genome on the trend toward personalized medicine is generating excitement across the life science industry. Eric Lander, director of The Harvard-MIT Broad Institute, summarized the impact of this technology with, “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.”

Fortunately for companies like 23andMe, the $1,000 genome for the consumer is still some time in the future once provider mark-up and the cost of external sequence analysis and interpretation are taken into account. However, with the current pace of advancement the individual consumer will not have to wait long. 

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