This week Complete Genomics of Mountain View, CA, announced that it had fully sequenced 14 individual genomes, almost doubling the number of people who have had nearly every C, T, A, and G in their bodies decoded and published.
The company hasn’t said how much this preliminary round of genomic sequencing cost, although last year it announced that it had sequenced a genome for $4,000. And CEO Clifford Reid says the company will soon start charging $20,000 per genome for an order of eight genomes or more, and $5,000 apiece for an order of 1,000 or more-with variable pricing in between. The sequencing technology involved is gearing up to run one genome per day per instrument, Reid says, with an accuracy that is comparable to the sequences published last year using technology developed by San Diego-based Illumina, which charged about $250,000 to sequence that genome.
Complete Genomics’s customers include Duke University, in Durham, NC; Brigham & Women’s Hospital, in Boston; the Institute for Systems Biology, in Seattle; and the Broad Institute of MIT and Harvard, in Cambridge, MA. “I think this mainly matters because it is real,” says Robert Cook-Deagan of Duke’s Institute for Genome Sciences and Policy. “It’s kind of amazing if they can do what they say.”
Having one’s complete genome sequenced is far more thorough than the scans done by companies such as 23andMe (also in Mountain View) and DeCodeMe, in Iceland. These companies offer direct-to-consumer testing of a person’s DNA for between $399 and $985. But they test only about a million genetic markers out of the six billion nucleotides that reside inside human cells.
Founded in 2006, Complete Genomics uses technology developed primarily by chief scientific officer Radoje Drmanac, a key scientist for the Department of Energy during the Human Genome Project and a cofounder of Hyseq, a gene-discovery and drug company. The technology employs array-chips that are extremely dense and use chemicals to separate out the DNA, special enzymes to join them together, and imaging methods to identify them–patented processes that Reid says have dramatically reduced costs.
But Complete Genomics is not itself in the business of genetic research. Instead, says Reid, it is a data vendor. “We are complete agnostics in terms of what the data is used for,” Reid says.
The company’s business model involves selling its genomic data and analysis, rather than expensive sequencers and other instruments. “Our process will open up this science to a broad range of researchers who can’t now afford the expensive instruments,” Reid says.
Complete Genomics has entered a space that is becoming white-hot with competition as companies scramble to provide a new generation of sequencing tools. This past summer Illumina announced its own full-genome sequencing service for $48,000. Other rivals include Knome, based in Cambridge, MA, and Pacific Biosciences of Menlo Park, CA, which has a novel platform using nanotechnology and lasers to sequence DNA that will be launched next year.
It also remains unclear what Complete Genomics will do with all of the data that will be produced. As part of its package, the company offers to annotate a genome with known genetic markers culled from public online databases and from insights gained from the process of assembling genomes. But there remains a huge gap between the ability of sequencers to churn out DNA and the ability to work out what all of that data means. The function of most of the human genome remains a mystery, as does the effect of variation in DNA upon traits and disease.
If the research phase is still embryonic, the clinical phase, in which data is translated into applications that physicians and patients can use, is even farther in the future. “Expectations need to be realistic about what can be delivered to the clinic,” says Reid, though he predicts that certain discoveries will have quicker lead times from full-genome scan to clinic.