First $50,000 Genome Delivered

Ronald Bailey | September 1, 2009

Gene sequencing The genome sequencing company Illumina has just delivered the results of a complete human genome sequencing to a customer. InSequence reports:

The company said that it generated more than 110 gigabases of data, sequencing the genome to more than 30-fold coverage, at its CLIA-certified laboratory, which is also accredited by the College of American Pathologists, using its Genome Analyzer technology.

Illumina delivered the genome to the customer — Hermann Hauser, a partner of Amadeus Capital Partners, and an investor in Solexa, which Illumina acquired in early 2007 — on Aug. 20. in the presence of Hauser's physician, Michael Nova, chief medical officer of San Diego-based direct-to-consumer DNA testing company Pathway Genomics. The analysis revealed 300,000 novel SNPs in Hauser's genome, according to Illumina.

The company launched its $48,000 personal genome sequencing service, which it offers through physicians, in June.

I just got back this afternoon from a National Academy of Sciences workshop on direct-to-consumer gene testing. One participant confidently predicted that the first $1,000 whole genome scan will become available in the next two years.

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|9.1.09 @ 4:22PM|#

One participant confidently predicted that the first $1,000 whole genome scan will become available in the next two years.

I'm working with a genetics startup that will provide whole genome analysis, and we are counting on this price decrease for our business model.

|9.1.09 @ 10:25PM|#

David N: You may be way too pessimistic. Gene scanning is dropping in price much faster than Moore's Law. This quote from a Forbes June 2007 article:

Small biotechs are starting to produce ultrafast gene machines that aim to unravel all 3 billion DNA letters that contain the human blueprint for $100,000. It would be a thirtyfold cost reduction in seven years. "That beats Moore's Law hands down," says Eric Lander, head of the Broad Institute of MIT and Harvard, funded by billionaire Eli Broad. "It's a wonderfully disruptive technology."

Russ 2000|9.1.09 @ 4:18PM|#

WTF is a "gigabase"?

|9.1.09 @ 4:28PM|#

a Gigabase is 1 billion base pairs of DNA (C-T-G-A)

|9.1.09 @ 4:30PM|#

Ron: Who is the confident participant who predicted the $1K genome within two years?

Russ 2000|9.1.09 @ 5:01PM|#

Kant etc., thanks.

Gunboat Diplomacy|9.1.09 @ 5:36PM|#

"The company launched its $48,000 personal genome sequencing service, which it offers through physicians, in June."

$48K? But personal genome sequencing services are a RIGHT! Goddam greedy doctors.

|9.1.09 @ 6:39PM|#

MD: Actually several basically accepted the proposition, but the guy who specifically said it was British molecular geneticist Timothy Aitman.

wayne|9.1.09 @ 7:49PM|#

Wow, at $1000 I might buy it. The difficulty I see in it for a customer is interpretation, e.g. say you are interested in using your genome to shed light on your genealogy, how do you use the info to do that?

|9.1.09 @ 7:54PM|#

$1000 in two years is too optimistic, but half price every two years much like Moore's law is totally possible: $24K in two years, $12K in 4, $6K in 6, $3K in 8 an $1500 in 10 years.

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