By Bio-IT World staff
August 31, 2009 | Following the launch of its personal genome sequencing service last June, Illumina has completed and delivered its first sequence off the production line to venture capitalist Hermann Hauser. The price of the service is $48,000.
Hauser, who is Austrian but lives in Cambridge, UK, where he went to university, is a co-founder and partner of British Venture fund Amadeus Capital Partners, one of the earliest investors in Solexa, which Illumina acquired in January 2007. Hauser is one of a quartet of consumers announced by president/CEO Jay Flatley at a meeting this summer. The others are Flatley himself; Harvard professor Henry Louis “Skip” Gates, famously in the news this summer for other reasons; and Gates’ father.
Hauser’s genome was sequenced after he received a prescription from physician Michael Nova, who works with San Diego consumer genomics firm Pathway Genomics. 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.
“We are very excited to be delivering our first individual genome sequence to Hermann Hauser,” said Flatley in a statement. “The experience we created for Hermann was not only one of personal genetic exploration, but one that points to a future where genome sequencing will become a routine practice and the information generated will enable physicians to make better healthcare decisions for the individual.”
Hauser said: “Going through Illumina’s process was very exciting for me personally. 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.”
He added: “This is the beginning of personalized medicine and I am delighted to be there at the start of it. As an early investor in the gene sequencing technology used in this work, I am proud that Illumina has introduced this service to consumers. It fulfills an early dream to substantially reduce the cost of whole genome sequencing.”