Human Gene Mapping Price to Drop to $1,000, Illumina Says

The $1,000 human genome sequence is here, according to Illumina Inc.

The HiSeq X sequencer is designed to process 20,000 genomes a year at a cost of $1,000 each, said Jay Flatley, Illumina’s chief executive officer. He introduced the machine yesterday at the JPMorgan Chase & Co. health-care conference in San Francisco.

Now it costs about $10,000 to sequence a human genome. The industry has been trying to reach the $1,000 for years as a way to make full sequencing more mainstream. Customers, primarily large research centers, will begin receiving the machine this quarter, Flatley said.

“To figure out cancer, we need to sequence hundreds of thousands of cancer genomes, and this is the way to do it,” Flatley said in an interview with Bloomberg Businessweek.

The sequencers made by San Diego-based Illumina and a handful of other companies read out the genetic make-up of people, animals, plants and tumors. Having more of these sequences can give scientists detailed data to help them understand the underlying causes of traits and medical conditions, such as cancer. The goal behind the $1,000 mark, has long been that it would open the door to mass sequencing.

About a decade ago it cost much more than $1 billion to sequence a human genome, and the process took months. The HiSeq X systems, which cost $1 million each, will be sold in groups of 10. The first customers include Macrogen, the Broad Institute in Cambridge, Massachusetts, and the Garvan Institute of Medical Research in Sydney, according to Illumina.

Technical Glitches

Illumina fell less than 1 percent to $121.12 at the close in New York. The shares have more than doubled in the past 12 months.

In early 2012, Ion Torrent, which was acquired by Carlsbad, California-based Life Technologies Corp., reported it had a machine capable of the $1,000 genome in hand. However, technical glitches prevented the company from actually selling such a machine.

“We expect it to be out in 2014,” said Ron Andrews, the president of genetic and medical sciences at Life Technologies, in a telephone interview. “We still have a team working on it, but it is not the ultimate goal. I think the reality is there are bigger and more urgent business opportunities than the $1,000 genome.”

Illumina, meanwhile, will continue to reduce the cost of sequencing hardware, as well as diversify into services, Flatley said.

Last year, the gene sequencing company acquired Verinata Health for about $350 million. Verinata performs tests for expecting parents to see if their children have any chromosomal abnormalities; it does so via a blood test rather than the dreaded amniocentesis procedure. Illumina also offers a human genome sequencing service, which comes with a complimentary MyGenome app for the iPad, and has moved into cancer diagnostics.