16th January 2014

$1,000 genome sequencing is finally here

U.S. biotechnology company, Illumina, has demonstrated the first machine capable of sequencing a complete human genome for less than $1,000. This landmark opens the floodgates to mass genome sequencing and will lead to cheaper and faster medical research.

The Human Genome Project – an international effort to identify and map every gene in the body – was initiated in 1990 at a cost of $3 billion. It was the largest collaborative biological project ever undertaken, involving hundreds of laboratories and requiring 13 years to complete.

In the first decade of the 21st century, new sequencing methods led to costs plummeting at a rate even faster than Moore's Law, the trend of exponentially improving power seen in computer chips. In addition to price, the length of time needed to scan DNA was falling rapidly. By the early 2010s, thousands of human genomes had been decoded worldwide.

In recent years, however, this trend appeared to reach a plateau with costs hovering at between $3-5,000. Hopes for a $1,000 genome seemed unrealistic. The industry had surely experienced the law of diminishing returns.

That apparent stagnation has now ended, with U.S. company Illumina achieving a major breakthrough in the form of their HiSeq X Ten Sequencing System. In a press release, they claim to have "broken the sound barrier of human genomics", by enabling $1,000 whole genome sequencing for the first time.

HiSeq X Ten will be released in March 2014 at $1m each, in a minimum of 10 units. The figure of $1,000 per genome takes into account the cost of the machines and the chemicals needed to do the sequencing. It is, therefore, not yet economical for smaller research labs, hospitals, or doctor's offices. However, larger research institutes have already expressed an interest – including the Broad Institute in Cambridge, Massachusetts; Macrogen in Seoul, South Korea; and the Garvan Institute of Medical Research in Sydney, Australia. In the coming years, costs will continue to go down while speed and accuracy go up, and the average person will be able to scan their genome at a very affordable price.

Other companies, such as 23andMe, have been offering personalised DNA analysis for some time now. These tests, however, only do partial sequencing for a tiny fraction of total genes. The new machine from Illumina, on the other hand, scans the entire human genome, all 3.2 billion base pairs. Five complete genomes can be delivered in a day, or potentially 1,825 per year. Several advanced design features are utilised to generate this massive throughput, an order of magnitude faster than before: patterned flow cells (which contain billions of nanowells at fixed locations), combined with a new clustering chemistry (for high occupancy and monoclonality), and state-of-the art optics.

Jay Flatley, CEO of Illumina: “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.”

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