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.

“I am delighted to be the second person to go through the process to gain the genomic knowledge that will allow a detailed assessment of potential health risks. I hope and believe that this will become a widespread practice as correlations between the genome and potential illnesses become more precise,” said Hauser. Mr. Flatley and Mr. Hauser both intend to deposit their complete genome sequence into the public domain in order to contribute to the collective understanding of the genome. In doing so, they will double the number of previously-named completed genomes in the public domain.

Two additional individuals who are being sequenced using Illumina’s Personal Genome Sequencing service include Henry Louis “Skip” Gates, Jr., Alphonse Fletcher University Professor at Harvard and his father Henry Louis Gates, Sr. Skip Gates is the Director of the W.E.B. Du Bois Institute of African and African American Research, has published 12 books, made nine documentary film series and is the Host and co-Executive Producer of “Faces of America”.

Source: Ilumina Inc