Breakthrough: Now we can sequence a human genome for just $1000S

It took the Human Genome Project ten years, and close to three billion dollars, to sequence the first human genome. Now, in a major milestone for biotechnology, a company has introduced a machine that it claims can sequence an entire human genome in a matter of hours, for less than $1,000.

Illumina, a leader in the DNA sequencing industry, made the announcement yesterday at the annual JP Morgan Healthcare Conference in San Francisco. The company calls its high-throughput genetic sequencing machine the HiSeq X Ten. According to Illumina, the hardware is capable of churning out five whole human genome sequences in a single day (a six-fold speed improvement over its predecessor), at just under $1,000 a pop. As recently as ten years ago, sequencing a whole human genome would set you back more than a quarter of a million dollars. A fast, sub-$1,000 sequencing solution heralds new levels of accessibility for research, industry, and everyday consumers alike.

Most importantly, it could make personalized medicine a reality, with doctors able to sequence a patient's genome cheaply, and prescribe therapies tailored to individual genetic needs.

Breakthrough: Now we can sequence a human genome for just $1000S

It's important to point out that the $1,000 price tag applies to the cost of sequencing. The up-front cost on the hardware, itself , remains quite expensive. Each HiSeq X Ten system is actually a cluster of ten $1-million machines (pictured above), working in unison, bringing the price tag to a cool $10-million. How does one recover that kind of up-front investment? By sequencing a LOT of genomes. Here's Ars Technica's John Timmer:

Despite the high cost of entry, however, Illumina claims that the amortized price is included in their $1,000 figureā€”as are the costs of preparing the DNA and consumables used during the reactions, even the labor needed to get it all to happen [Ed Note: something previous claims to the sub-$1,000 sequencing throne neglected to consider]. In other words, a single genome will still cost a fortune; buying the system and cranking out genomes nonstop for a few years [Ed. Note: Illumina estimates each HiSeq X Ten's output at 18,000 genomes a year] will mean that the average cost drops to near the $1,000 price tag.

Forbes' Matthew Herper reports that three institutions have purchased Illumina's new high-horsepower sequencing machine: The first is sequencing giant Macrogen; the second the Harvard-MIT Broad Institute, and the third is the Garvan Institute of Medical Research in Australia.

Illumina's announcement comes just five months after the cancellation of the Archon X Competition, which, for many years, offered to award $10-million to the first team to make genome sequencing possible for less than a grand per go. According to X Prize founder Peter Diamandis, the competition was discontinued because the effort to achieve a sub-$1,000 genome had been "outpaced by innovation."

While genome-sequencing hardware remains well beyond the grasp of everyday consumers, the ability to deliver a full human genome for under $1,000 is, to quote Eric Lander, a founding director of the Broad Institute, "tremendously exciting."

"The HiSeq X Ten should give us the ability to analyze complete genomic information from huge sample populations," he said in a statement. "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."

[Forbes | Ars Technica]