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.