Another Stop on the Road to the $1,000 Genome
The latest stop on the road to the $1,000 genome? San Francisco, CA, where J.P. Morgan’s 28th Annual Healthcare Conference is in full swing. There is an abundance of real-time Twitter coverage from the conference, but certain announcements warrant a more detailed discussion.
The announcement generating the biggest buzz today came from Illumina, Inc., whose CEO Jay Flatley unveiled a new genome sequencing machine, the HiSeq 2000. According to Matthew Herper of Forbes.com, Illumina’s new machine “will decode a person’s DNA in one week using $10,000 worth of materials – five times cheaper than any other competing gadget on the market.” Herper adds that the machines will begin shipping in February with a cost of $690,000 (compared to $500,000 for Illumina’s current model). Illumina’s own product page for the HiSeq 2000 provides more technical details, including coverage (~30x) and read length (2×100 bp). There have also been unconfirmed rumors that the machine will come equipped with an iPhone user interface, a concept that Flatley first pitched at last summer’s Consumer Genetics Show.
If it performs as advertised, the HiSeq 2000 is likely to be a huge hit with large genome sequencing centers, as evidenced by the announcement that the BGI (formerly the Beijing Genomics Institute) has agreed to purchase a whopping 128 of the new sequencing systems. But what, if anything, does the Illumina announcement mean for individuals consumers interested in receiving a complete genomic sequence?
The Genome In Silico and the Future of Whole-Genome Sequencing
In my previous post summarizing last weekend’s conference on Genetics and Ethics in the 21st Century I briefly mentioned Professor John Robertson’s discussion of the “genome in silico.” Using Illumina’s recently announced $48,000 whole-genome sequencing service as an example, Robertson wondered whether the future of whole-genome sequencing lies in converting the genome to silicon storage (in silico) or whether on-demand sequencing of short genetic segments (or even whole genomes) will continue to be done as and when patients present with specific clinical conditions (in vivo). To put it another way, will the patient of the future present his doctor with the equivalent of Illumina’s concept iPhone app or Knome’s USB drive, or will she come prepared to undergo a more traditional blood draw or tissue biopsy.
Following Illumina’s announcement at the Consumer Genetics Show, Daniel MacArthur at Genetic Future speculated that Illumina, in focusing “on the sequence generation side…[was] restricting itself to the least attractive segment of the personal genomics market.” And I agreed, arguing that the bioinformatics portion of the genome sequencing market — interpreting and functionalizing raw sequence data — appeared to be both larger and less well-developed, thus presenting a more promising commercial opportunity.
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Recap from the Consumer Genetics Show: Illumina Gets Personal in Advance of the Coming Bioinformatics Bottleneck
The first annual Consumer Genetics Show took place last week (June 9-11) in Boston, MA. With much anticipation — and some uncertainty about what to expect from the inaugural event — research, commercial and thought innovators from across the country came together to discuss the present and the future of consumer genetics technologies and services and the research and science that is driving the development of those technologies.
Highlights from the show — which was attended by most of the GLR team — included Francis Collins’s anonymous genome sequencing and Zak Kohane’s discussion of the “Incidentalome.” In addition, the GLR’s own David Clark presented a well-received talk (slides) on the Emerging Legal Issues in the Expanding Genomics Space.
But arguably the most newsworthy event of the show came courtesy of Illumina’s CEO, Jay Flatley, who officially launched Illumina’s personal genome sequencing service. The announcement was covered extensively by Genetic Future, Forbes, GenomeWeb and others, and Illumina has produced its own site — http://www.everygenome.com/ — to explain the service. The short version is this: for $48,000 — just under half of the previous low-water mark of $99,000 established by Knome earlier this year — consumers can purchase a whole-genome sequence and, after consulting with a physician, completing a consent form and confirming their interest after a one-week waiting period, have it delivered to them on their own Apple iMac.
Illumina's personal genome sequencing service
But perhaps the most interesting feature of Illumina’s service is what you don’t get for your $48,000 investment. Although your iMac comes loaded with some 3 billion base pairs representing your genome, Illumina does not provide any data interpretation, relying on third party providers to assist consumers and their doctors with the all-important process of attempting to understand the significance of all of those newly-delivered As, Ts, Cs and Gs.
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