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Your own personal genome
SAN DIEGO—In collaboration with several companies, but most notably four direct-to-consumer genomics firms—23andMe, deCODE Genetics, Knome and Navigenics—Illumina has unveiled a program to provide high-quality personal genome sequencing for consumers, offering what is said to be the first service to offer complete coverage of the human genome sequence for under $50,000. The service will take advantage of both Illumina's Genome Analyzer technology and a recently certified CLIA laboratory.
The $48,000 price tag 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," says 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."
With other companies touting the availability of less expensive personal genomics sequencing, with prices as low as $5,000 or $10,000, what makes Illumina's service worth the price it's charging? According to Philomena Walsh, associate director of corporate marketing for Illumina, it's the sheer depth of the information that will be gleaned.
"We are offering a service to sequence the entire genome, which has 3 billion bases. With DNA sequencing, the genome is decoded," she says. "This tells you your genetic code, which can be used in the future for more interpretation as new discoveries are made. The limitation with genotyping is that only a certain number—thousands to hundreds of thousands—of known variants is assessed. If new variants are discovered after your genotyping has been completed, you will likely have to be genotyped again to include the new 'content'."
In addition to the sequencing service, Illumina is establishing a protocol, infrastructure and community to enable large-scale adoption of personal genome sequencing. This will include a network of partners to offer a variety of services. For example, genetic counselors will play a role in the service, as will a network of physicians. And with its direct-to-consumer genomics partners and other collaborators, Illumina will be able to encourage secondary data analysis such as calculation of disease risk, ancestry and information on traits of interest.
As part of the CLIA certification process, Illumina sequenced its own CEO, Jay Flatley, 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, and both he and Flatley intend to deposit their complete genome sequence into the public domain to contribute to the collective understanding of the genome.
The two other people being sequenced using Illumina's Personal Genome Sequencing service include Henry Louis "Skip" Gates Jr., who serves as a Harvard professor and director of the W.E.B. Du Bois Institute of African and African American Research, and his father Henry Louis Gates Sr.
The question remains, of course, as to whether even a $48,000 complete sequencing can catch on among consumers.
"Costs have come down enough to make this accessible to a thin slice of the market," Walsh notes. "We are doing this now because we think that it's time for the process to begin. We want to perfect this process before it becomes routinely used. We want to scale our infrastructure, understand how the physician network is going to work. And we also want to build an ecosystem around partners to help us do data analysis."
All of these things will become ever more important, Flatley notes, "as genomic information becomes medically more meaningful."
After a person is sequenced via the service, Walsh says, the assembled sequence is delivered to a physician, and that physician communicates results back to the consumer. While the individual's sequencing data is entirely private and protected for anonymity, Illumina does hope that participants will put their data into the public domain.