Illumina completed the sequence at its CLIA-certified laboratory, producing more than 110 billion base calls, good for 30X coverage of the genome and the identification of some 300,000 novel single nucleotide polymorphisms. Hauser received his genome on an iMac computer and presented using GenomeStudio software during a visit to Illumina’s San Diego headquarters on August 20.
The only previous direct-to-consumer genome sequences were delivered by the company Knome, so this is a valuable injection of competition into a previously one-horse race.
It’s also a shot across the bow for Complete Genomics
, a company that just raised $45M to build a genome sequencing facility in Silicon Valley
. Complete will be offering genome sequences for an order of magnitude less (around $5,000), but I think we can safely assume that Illumina’s prices will be dropping fast over the next twelve months, and the company represents a very well-established player with a strong reputation in the sequencing market. If Illumina scales up its sequencing service it will represent a very real threat to Complete’s business model.
I’m also very keen to see what sort of infrastructure Pathway Genomics has developed for presenting whole-genome data to consumers – this is no easy task given the complexity, uncertainty and sheer scale of a genome sequence.
Hauser clearly has high hopes for his genome:
I am looking forward to the information on gene variants that will give my doctors guidance on effective treatments and drug dosage based on pharmacogenetic information, for any future medical condition I may develop.
It’s good to be optimistic about the future, but I do hope he realises it will be quite some time before he gets much of real value out of his sequence.