Sequencing giant Illumina has announced that it has delivered its first commercial personal genome sequence. The sequence was generated by the genome sequencing service launched by Illumina back in June, and was delivered in collaboration with new personal genomics company Pathway Genomics.
Illumina's genome sequencing service costs $48,000, and its first customer was entrepreneur Hermann Hauser. Bio-IT World summarises details of the sequencing itself:
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.
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So I jump ship in Hong Kong and make my way over to Tibet, and I get on as a looper at a course over in the Himalayas.
A looper, you know, a caddy, a looper, a jock. So, I tell them I'm a pro jock, and who do you think they give me? The Dalai Lama, himself.
Twelfth son of the Lama. The flowing robes, the grace, bald... striking.
So, I'm on the first tee with him. I give him the driver. He hauls off and whacks one -- big hitter, the Lama -- long, into a ten-thousand foot crevice, right at the base of this glacier.
And do you know what the Lama says? Gunga galunga...gunga -- gunga galunga.
So we finish the eighteenth and he's gonna stiff me. And I say,
"Hey, Lama, hey, how about a little something, you know, for the effort, you know." And he says, "Oh, uh, there won't be any money, but when you die, on your deathbed, you will receive total consiousness."
So I got that goin' for me, which is nice.
Sounds like Hauser has one of those total consciousness things.......
-Steve
http://www.youtube.com/watch?v=TkLH56VlKT0
FYI
With all due respect to the good doctor, I'm more apt to equate consumer whole-genome sequencing with another classic Bill Murray performance:
http://www.youtube.com/watch?v=O3ZOKDmorj0
Dogs and cats living together...
The key to the business will be marketing.
You need a lot of customers to sustain such a business.
You know, some of these comments made me think about the comments people in the computer industry were making back in the days. For example, Ken Olsen's: "There is no reason for any individual to have a computer in his home." Compare with: There is no reason for any individual to have his own genome sequenced. Then too, people didn't know what to do with it (a PC). The technology was ahead of what people could do with it and you had to be a little expert to use it (see the parallels?). However, as more people started buying a PC, more applications came out. And the more the price came down too! So that's this will happen too in the 'genome industry': more applications and lower prices. Yes, a lot of issues need to be dealt with. And there is still a lot of research to be done. And I agree, people that get their genome 'done', need to be aware of these shortcomings!
Home genome kits will come free with your box of Cherrios in 25 years. There's no great need to give the AMA a monopoly on this and have the FDA regulate it to keep prices up.