Genomics
05/29/14 1:57 PM

Illumina's new low-cost machine leads to the $1,000 genome

Illumina's HiSEq X machine.

Genome sequencing is beginning to be affordable now even for current people. Sequencing-technology company Illumina has broke the 'sound barrier' of human genomics by launching a system that can generate the entire human genome for $1,000, reducing the cost  by a factor of 10.  This is expected to accelerate advances in research and medical diagnostics.

Genome sequencing is beginning to be affordable now even for current people. Sequencing-technology company Illumina has broke the 'sound barrier' of human genomics by launching a system that can generate the entire human genome for $1,000, reducing the cost  by a factor of 10.  This is expected to accelerate advances in research and medical diagnostics.

The first human genome required $3 billion and 13 years to sequence and a huge computational power. Only ten years later, you will have your own genome sequence in some hours using a machine which occupies the same space as a large photocopier.Jay Flatley, chief executive officer of Illumina, explained that HiSEq X can partially sequence five human genomes in a day. A complete run takes three days, during which time it can produce 16 human genomes at a quality level widely accepted by the sequencing community.

Flately  predicts an explosion of demand for "factory-scale" sequencing of human genomes. He is convinced that sequencing is going to become absolutely pervasive and pointed out that at the cost of 1,000 dollars, it can be reasonable for healthy patients to have their genomes sequenced for potential medical information.  Even though, the first step is to to enable the huge sequencing studies that can lead to significant progress in deceases diagnosis.

HiSEq X can generate 20,000 genomes per year. It cost $1 million each and, at least for the time being, it must be purchased 10 at a time.  The first ten should be shipped to the costumer on this first quarter of the year. The first three customers are all powerhouses of genome sequencing: Macrogen, a genomic services company in Seoul; the Broad Institute in Boston; and the Garvan Institute of Medical Research in Sydney.

The company emphasizes that this machine is conceived as a tool for scientists and institutions focused on the discovery of genotypic variation to enable a deeper understanding of human biology and genetic disease. Researchers could sequence thousands of people, creating much richer data sets that can in turn be used to pinpoint the causes of illness.

It "should give us the ability to analyze complete genomic information from huge sample populations. 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," said Eric Lander, founding director of the Broad Institute and a professor of biology at MIT.

Illumina has developed another machine, the NextSeq 500: is smaller, cost about $250,000 and handles one genome at a time. Is meant to be cheap enough for a hospital or other commercial customer.

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