By Turna Ray
Illumina's newly launched personal genome-sequencing service delivered genome data earlier this month to its first customer: Hermann Hauser, a partner at Amadeus Capital.
As the first consumer to receive his genome through Illumina's individual genome-sequencing service, Hauser received his results at an Aug. 20 ceremony at Illumina's San Diego headquarters, the company said this week.
Hauser's results were delivered by a team that included his doctor, Michael Nova, who is the chief medical officer of the direct-to-consumer personal genomics firm Pathway Genomics.
Although Hauser is the first customer to receive personal genome-sequencing results from Illumina, he is not the first to have his genome sequenced by the firm's services arm. When the company launched the $48,000 service in June, it disclosed that CEO Jay Flatley was the first person to pilot the program. At a conference in Boston announcing the launch of the program, Flatley displayed the first ever prescription for a whole-genome sequencing test written to him by his doctor [see PGx Reporter 06-10-2009].
At the time it launched the service, Illumina sought to distinguish itself from other personal genomics firms by highlighting the increased role the physician would have in advising consumers in their decision to purchase the service and then helping understand the data received.
Unlike direct-to-consumer genomics firms, which allow customers to order gene scans over the Internet and receive sample collection kits in the mail, Illumina’s service will require a prescription from a physician, either the customer's own doctor or a doctor in Illumina’s Personal Genome Network, before obtaining their genomic-risk data.
In addition, Illumina performs the primary raw data analysis, but offers its customers the option of going through a DTC personal genomic company to learn about the risk and potential lifestyle impact conferred by their gene variations. In addition to Pathway Genomics, other organizations offering interpretation of genome sequencing data generated through Illumina's service include 23andMe, Decode Genetics, Navigenics, Knome, and the National Center for Genome Resources.
Illumina did not provide details about the data interpretation services that Hauser will receive, but it is likely that he has chosen to go through Pathway Genomics, since his doctor is employed there.
Although Hauser's results were reported through a geneticist, he himself is not entirely unfamiliar with sequencing technology. According to his profile on Amadeus Capital, Hauser has founded a number of technology companies and is a non-executive director at Solexa, the firm that developed the technology underlying Illumina's Genome Analyzer, which Illumina acquired in 2007.
"As an early investor in the gene sequencing technology used in this work, I am proud that Illumina has introduced this service to consumers," Hauser said in a statement. "It fulfills an early dream to substantially reduce the cost of whole-genome sequencing."
Hauser is part of a select group of individuals who have had their genome sequenced using Illumina's service. The company has said it is also sequencing the genomes of Henry Louis "Skip" Gates, a professor and director of the W.E.B. Du Bois Institute for African and African American Research at Harvard University, and that of his father, Henry Louis Gates, Sr.
According to Illumina, in sequencing Hauser's genome to more than 30-fold coverage, it generated more than 110 gigabases of data. The analysis was done at Illumina's CLIA-certified laboratory, which is also accredited by the College of American Pathologists.
Illumina has previously said that both Flatley and Hauser plan to make their genome sequences publicly available.