Illumina Announces Personal Genome Sequencing Service
News Jun 12, 2009
Illumina, Inc. has unveiled a service program to provide high-quality personal genome sequencing for consumers. This is the first service to offer complete coverage of the human genome sequence for under $50,000.
The Personal Genome Sequencing Service is performed in Illumina’s recently certified CLIA laboratory utilizing Illumina’s industry leading Genome Analyzer technology. The offering includes sequencing of an individual’s DNA to 30 times depth, providing information on SNP variation and other structural characteristics of the genome such as insertions, deletions and rearrangements.
“Rapidly decreasing costs have made sequencing a pervasive technology that can begin to be accessed at the consumer level,” said Jay Flatley, CEO and president of Illumina.
“We are entering a new era in genomic health, where information from an individual’s genome will begin to inform lifestyle decisions and ultimately assist with health management. We believe that in the long-run personal genome sequencing will become a routine practice and the information generated will enable physicians to make better healthcare decisions for the consumer. By providing this service now, Illumina can help catalyze the development of the infrastructure and physician education that will be necessary as genomic information becomes medically more meaningful.”
Illumina intends to create a social community for the education and exchange of information for those who have had their genomes sequenced. As more information becomes available, participants will be in a position to mine their personal genome sequence data to understand their identity in ways which have never been possible.
In addition to the sequencing service, Illumina is establishing a protocol, infrastructure, and community to enable large-scale adoption of personal genome sequencing. This includes the creation of a network of partners to offer a variety of services. Data analysis partners, physicians and genetic counselors will play an important role in Illumina’s Personal Genome Sequencing Service. A physician’s network is being created as physicians will be critical to the service – to discuss the process with the consumer, order the sequencing service, collect DNA samples and deliver final sequencing data to the consumer.
Illumina is collaborating with a number of partners, including 23andMe, deCODE Genetics, Knome and Navigenics, to encourage secondary data analysis such as calculation of disease risk, ancestry, and information on traits of interest. Genetic counselors will also play a role in counseling individuals on the results.
As part of the CLIA certification process, Illumina sequenced Jay Flatley, CEO and president of Illumina and is currently processing three other individuals’ genomes. Hermann Hauser, Partner, Amadeus Capital Partners Ltd, is the second individual to have his genome sequenced through this service.
Previous work by the International Multiple Sclerosis Genetics Consortium (IMSGC) has identified 233 genetic risk variants. However, these only account for about 20% of overall disease risk, with the remaining genetic culprits proving elusive. A new study has tracked down four of these hard-to-find genes.READ MORE