By Kevin Davies
June 11, 2009 | BOSTON – Illumina CEO Jay Flatley stole the limelight at the inaugural Consumer Genetics Show on Wednesday by announcing that Illumina was leaping into the consumer genomics field with the launch of a personal genome sequencing service priced at $48,000.
Until now, Illumina has provided the platforms used by direct-to-consumer genomics offerings including 23andMe and deCODEme on the genotyping side, and Knome (via the Beijing Genomics Institute Shenzen) on the whole-genome sequencing front. But Flatley has wanted to move into personal genomics for several years. “It started right when we bought Solexa,” he told Bio-IT World. “We knew this is where it was headed strategically back at that point in time. It was just a matter of what was the right tie in terms of the market and our technology.”
Illumina’s new Personal Genome Sequencing Service will be performed in the firm’s CLIA-certified laboratory, which opened earlier this year, utilizing Illumina’s next-generation sequencing system. The service will offer 30-fold sequence data assembled against the reference genome, as well as information on single nucleotide polymorphisms, structural variations, insertions and deletions.
Illumina is partnering with four existing consumer genomics firms – 23andMe, deCODEme, Navigenics and Knome – to provide consumers with the option of additional bioinformatics analysis of disease risk, ancestry, and traits. “We’ll give the analytical look at the genome but not the genetic level look,” Flatley said. “It’s not Illumina’s intent, nor is it our skill, to connect genetic information to medically relevant information, and that’s a role we’re going to ask other companies to help us play.” Each of the four consumer genomics companies will have their own business model about how they want to do back-end data analysis, Flatley said.
Flatley is the first of four volunteers for the new service. He displayed what is likely the world’s first prescription for a human genome sequence. The prescription was issued by a medical geneticist at Scripps rather than Flatley’s own GP. “I called my GP, he said, ‘What?’ No, not me.’” The others are Hermann Hauser, a venture capitalist with Amadeus Capital Partners; Harvard professor and film producer Henry Louis “Skip” Gates, Jr., and his father Henry Louis Gates Sr.
The pricing of Illumina’s personal genome sequence dramatically undercuts the only other commercial personal genome service from Knome, which is priced at $99,000 (although that includes detailed counseling, interpretation and other features). “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,” Flatley said. “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.”
That educational goal begins with a dedicated website, everygenom.com. Illumina intends to create a social community for educational and infomrational exchange, as well as a netwok of partners to offer various services including data analysis and counseling..
The idea is that consumers get preliminary information from Illumina though a special website, everygenome.com. They meet with their doctor, who will share further information provided by Illumina including the all-important consent form. The consumer then goes into what Flatley calls a “cooling off period” for a week to ensure the (s)he really wants to pursue the service, before the blood sample is delivered to Illumina.
DNA is extracted from the blood sample, with the saliva sample being used for SNP validation. After sequencing, the assembled sequence is delivered to a physician, and that physician communicates results back to the consumer. He said the genome is delivered to the consumer on an iMac computer running Illumina’s GenomeStudio software. Flatley said they wanted participants to put their data into the public domain.
As for timing, Flatley said, “The principal reason is we think the costs have come down enough to make this accessible to a thin slice of the market. We realize that $48,000 is still a thin slice of the market, but we think it’s time for this process to begin.”
“We want to perfect this process before it becomes routinely used. We want to scale our infrastructure, understand how this physician distribution network is going to work. And we also want to build an ecosystem around partners to help us do data analysis.”
“Ultimately , we think the data need to be mobile connected and wind up in the cloud,” said Flatley. “You can’t fit the entire genome onto an iPhone today, but once we’ve calculated the Vnome (variant genome), this becomes feasible.”
Flatley dazzled the audience by showing a preliminary concept of the iPhone personal genomes app, produced by a developer in a mere ten days. Following fingerprint identification, the app would present data on many different diseases and traits. It could list by disease, drug response, or chromosome; search by genes, share facilities with friends and family, and so on. Finally, Flatley joked that if people spend too much time analyzing their genome on their iPhone and the boss walks in, “all they have to do is shake and they’ll be right back to the spreadsheet analyzing their sales numbers.”
Navigenics issued a statement shortly after Flatley’s presentation welcoming the partnership with Illumina, “which is non-exclusive and allows both Navigenics and Illumina to continue building upon existing relationships as well as establish new partnerships with other genome sequencing and personal genome testing companies.”
Jack Lord, the new president and CEO of Navigenics, said whole genome sequencing represents an important step forward for personal genomics. “We are excited to engage in collaborations such as this with Illumina, that promise to help make scientific advancements an important part of people’s daily lives and empower them to improve their health and wellbeing. As we continue to explore new frontiers in this field, Navigenics looks forward to establishing new and fruitful relationships with those at the forefront of genomic technology and personalized health care.“