The $1,000 genome is here

Illumina's new supercomputer can sequence the genetic code of a human cell at a relatively low cost. It's a milestone of huge psychological importance for science.

By Forbes Digital Jan 15, 2014 2:34PM
Droplet Falling from Pipette into Test Tube © Andrew Douglas, Radius Images, Getty ImagesBy Matthew Herper, Forbes Staff

Illumina (ILMN), the leading maker of DNA sequencers, announced Tuesday a milestone in biotechnology: It is introducing a new machine that can sequence the genetic code of a human cell for $1,000.

The machine -- actually a combination of 10 machines working together called the HiSeqX Ten -- will cost $10 million. Already, three have been bought by Macrogen, The Harvard-MIT Broad Institute in Cambridge, and the Garvan Institute of Medical Research in Australia. Illumina forecasts that it will sell five of the systems this year.

Eric Lander, one of the world's leading geneticists and the director of the Broad Institute, called the machines "extremely exciting" in Illumina's press release.

"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," he said.

It's a milestone of huge psychological importance for the scientists who study human genetics and the industry of biotechnology companies creating new diagnostic tests and drugs using the technology. Initially, the number was put out there by researchers as kind of a thought experiment, or a mythic totem. Less than a decade ago, the cost of decoding a human genome was $250,000, but thanks in part to Illumina, the efficiency of the machines has risen at an exponential rate, outpacing the famous Moore's Law that describes the improvement of the semiconductor chips used in supercomputers.

But actually hitting the $1,000 mark has proved elusive. Life Technologies (LIFE), which was trying to give Illumina a run for its money, announced a year ago that it would launch a machine capable of cranking through DNA basepairs at this rate, but the machine still hasn't hit the market. Even if it had, there were reasons not to give it the title. For one thing, it was only counting the costs of the chemicals consumed in sequencing all that DNA, not the machine.

But Jay Flatley, Illumina's chief executive, says that this time the calculations include the cost of the chemicals, preparing the samples, and amortization for that extremely expensive machine. And in general, producing all that data is a huge step forward for biology. Meanwhile, many of Illumina's potential competitors, including companies like Life and Pacific Biosciences of California (PACB), have been left far behind.

"They are brilliant," says Michael Pellini, the chief executive of Foundation Medicine (FMI), which uses Illumina's machines to analyze the genomes of cancer patients. "Well ahead of the field. Nothing today has a dramatic impact on our business, but it's good in general for the field. Someone still needs to adapt the technology to the field of oncology in a seamless way. That's where we come in."

Other companies are racing to use the new technology, too. Earlier this week, Regeneron (REGN), a fast-growing biotechnology company, announced that it would be using the technology in research directed at discovering new drugs in collaboration with the Geisinger Health System in Pennsylvania.

Update: One protest I've heard from some scientists is that this doesn't include realistic labor costs. It doesn’t, but neither did the large numbers that were floated for sequencing costs when the idea of the $1,000 genome was first mentioned as an aspirational goal. I emailed Lander about this announcement and he says that it will take until sometime next year for the machine to reach full capacity and the $1,000-per-genome benchmark. Mick Watson at the University of Edinburgh has a must-read post checking Illumina's math (and it basically checks out.)

This does not, as I've noted before, mean that consumers will be able to buy their genomes for $1,000 any time soon. There are other costs, like analysis, that matter, and this does not include commercial markup for the providers of genetic tests. But it's an important benchmark, and that Illumina made it there emphasizes its amazing dominance over its competitors.

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