July 29, 2010 | BOSTON—The second annual Consumer Genetics Show* was highlighted by some audacious pronouncements regarding the future cost of human genome sequencing just as one executive announced a sharp cut in the current retail price.
One year after Illumina introduced its personal genome sequencing service, CEO Jay Flatley announced a significant price drop to below $20,000, and potentially half that if there is clinical relevance. Illumina’s Individual Genome Sequencing (IGS) service launched with a price of $48,000 for a whole genome sequence at 30-fold coverage. The service has to be ordered by a physician, and the results are also delivered back to the physician to discuss with the consumer.
With the introduction of the HiSeq 2000 instrument earlier this year, Illumina said the reagent cost of sequencing a full human genome had dropped to the $10,000 mark, which made the original IGS price tag of $48,000 appear a little steep.
The new cost of an individual genome sequence is $19,500. For groups of five people or more, the price drops to $14,500. Flatley also said that for a physician ordering a sequence for genuine clinical relevance, the price falls further to $9,500. The only catch with the new pricing is that the sequence is no longer delivered on an iMac. “A little less elegant, a little less cool,” Flatley admitted.
Flatley disclosed that the IGS has sequenced at least 14 individuals to date. These include Flatley, venture capitalist Hermann Hauser, Henry “Skip” Gates and his father; Glenn Close; John West (former Solexa CEO) and his family of four; a cancer patient, two centenarians, and a severely ill child.
The latest entry in the next-generation sequencing sweepstakes made its public debut at the show, offering the prospect of a $30 human genome. GnuBio is a company based on the technology of David Weitz, a physics professor at Harvard University. Weitz did not unveil an instrument or even any data—“I’m just a physics professor across the river,” he said modestly. But he did outline a microfluidics platform that could have instrumentation available by the end of 2010 for some very affordable DNA sequencing.
The Weitz group uses microdroplets as microreactors in a way quite similar to the commercially available RainDance platform. The drops are surrounded by inert oil which provides a measure of fluidics control. A droplet of 10 microns in diameter can contain 10-14 grams reagent. “We process drops at 1 million/second,” said Weitz. The droplets can be formed, broken apart, sorted, and the contents detected. “The size of the device is roughly the thickness of a human hair, so they can be stacked and run in parallel.”
Weitz presented some fairly provocative figures for the cost of DNA sequencing using his technology. With an estimated sequencing cost per base of just $10-9, a 30-fold human genome sequence would cost a mere $30 and take about 10 hours. “You can quibble about the details of these calculations but the orders of magnitude are not that far off,” said Weitz.
Weitz has co-founded a start-up biotech called GnuBio Corporation. Advisors on the “convergence board” include George Church, Dietrich Stephan, and Affomix founders Michael Weiner and John Boyce. Weitz hopes to have beta systems ready by the end of 2010. There are already commitments to purchase instruments from the Beaulieu-Saucier Universite de Montreal pharmacogenomics center and Stephan’s Ignite Institute.
*Consumer Genetics Show, Boston, June 2-4, 2010.
This article also appeared in the July-August 2010 issue of Bio-IT World Magazine. Subscriptions are free for qualifying individuals. Apply today.