Illumina breaks genome cost barrier

SAN FRANCISCO The cost of sequencing a human genome has been brought below $1,000, San Diego DNA sequencing giant Illumina said Tuesday, opening the door to bringing the full benefit of 21st-century genomic medicine to the public.

The lower cost is made possible by the new HiSeq X Ten Sequencing System, announced by Illumina chief executive Jay Flatley at the JP Morgan Healthcare Conference in San Francisco.

Bringing the price below $1,000 is like breaking the sound barrier, Flatley said. That cost level long has been considered the price below which mass adoption of genome sequencing becomes feasible.

There was a collective gasp that went across the room, said Joe Panetta, chief executive of Biocom, the San Diego-based life science trade group.

Illuminas announcement was a big surprise, said Dr. Eric Topol, a pioneer in health care genomics and chief academic officer of Scripps Health in San Diego. Topol said genome sequencing costs appeared to have been stuck around the $3,000 to $5,000 range for a couple of years.

Knowledge of a persons individual genetic makeup helps doctors find out which drugs work best and what diseases they may be predisposed to get. Studying many genomes helps advance research by allowing individual variations to be linked to health. On a larger scale, more efficient treatment holds the promise of reining in rising health care costs by making medicine more effective.

Genome sequencing costs have been plummeting since the first genome was sequenced about 13 years ago, for a price in the hundreds of millions. Lower costs have allowed more exploration of the differences between individuals. These differences are the key to the goal of providing individualized health care.

But while the cost of genome sequencing has fallen to mass-market levels, the machines that perform them are far most costly. So these machines will mostly appeal to research laboratories and large health systems that can use them on a big scale.

The $1,000 cost takes into account the cost of the machines and the chemicals needed to do the sequencing, but not overhead, Flatley said. Interpreting the genome readout is not part of the process; trained scientists and clinicians must determine what the sequence means.

Illuminas new system consists of 10 HiSeq X sequencing machines, which sell for $1 million each, bringing the total system cost to $10 million. The new system will start shipping in March, Flatley said.

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Illumina breaks genome cost barrier