First $50,000 Genome Delivered

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.