At the Consumer Genetics Show in Boston today, genome sequencing company Illumina's President and CEO Jay Flatley announced that Illumina had partnered with four major direct-to-consumer genomics companies and demonstrated a very rough concept for a mobile application that leveraged a consumer's genomic profile.
Illumina inked partnerships with consumer-facing genome analysis services 23andme, Navigenics, deCODE and Knome to present the raw data that Illumina sequences to the consumer. Illumina sequences a customers entire genome, which is why the price tag is $48,000, compared to the couple hundred dollars companies like 23andme charge to sequence portions of a customer's genome.
Flatley admitted that the pricepoint was still much too high for mass consumer adoption, but he explained that Illumina wanted to get in the market now to tap into that very thin slice of the market that would be willing to spend $48,000 for the information.
"We realize at $48,000 that is still [for] a thin slice[of the market], but we think it is time to begin," Flatley told the audience at the Consumer Genetics Show. "We also want to perfect this process before it becomes routinely used and to begin building the ecosystem for data analysis now."
Despite the high pricepoint, Flatley argued that now was the time to engage regulators, to work through clinical validation issues and work through the remaining privacy and ethical concerns that still linger in the industry. During the next five years, perhaps markedly sooner, the pricepoint for whole genome sequencing will fall from Illumina's $48,000 to under $1,000, Flatley said.
"Ultimately, we think this data needs to be mobile-connected and probably in the cloud," Flatley said as he cued a series of slides that showed a concept for an Illumina iPhone application branded MyGenome. "We think an iPhone type device is where this data will end up living, but clearly we can't fit an entire sequence on the iPhone of today."
Flatley explained that once the data is analyzed and converted into a more qualitative state it will fit onto an iPhone or iPhone-like device. A developer at Illumina created the concept iPhone app in just over a week, Flatley said, but it demonstrates some of the functionalities the company believes a genomics-centered app of the future would include.
Obviously, a foremost concern would be security, so the application requires a fingerprint scan to boot up. One of the app's primary features was the ability to share and compare genetic information with friends, family, doctors or even famous people. Flatley then showed a comparison that claimed the user's variant genome had a 95.8 percent similarity to Bill Gates'.
Flatley also demonstrated how users might send their genomic profile to a nearby device via a short range wireless technology like Bluetooth. (For a brief walkthrough of Flatley's conceptualized iPhone application MyGenome, check out this slideshow.)
Last month at the Wireless Life-Sciences Alliance event in La Jolla, the West Wireless Health Institute's Chief Medical Officer Dr. Eric Topol, a noted genomics thought leader himself, drew the connection between wireless health services and consumer facing genomics:
"If you couple wireless solutions with some of the work being done in genomics, however, you may be able to prevent some serious complications or in some cases maybe the conditions themselves," Topol told mobihealthnews. "By screening people's genetic markers you can determine a predisposition to a condition or a serious complication. The examples for this are across the board - genomics may indicate you are predisposed to have high blood pressure or obesity. Now, it's hard for wireless solutions to prevent someone from getting obese in the first place, but maybe we can use that information from the genetic markers and get this person using a calorie counter or exercise tracker early on...
"That should be a major strategy though -- to prevent diseases," Topol continued. "Wireless coupled with genomics can make a real contribution to that. We are capable of doing that today, but we are not doing it yet. I hope that soon becomes state of the art. Many of these wireless technologies and sensors are still in their earliest stages -- and genomics is too -- but both could have potentially steep adoption and the convergence between the two goes across the board."
For more, check out this slideshow of Flatley's conceptual iPhone application, MyGenome.
Revisit our interview with Dr. Eric Topol for his views on genomics, EHRs and mHealth.
Read Illumina's press release about its new genome sequencing service.
Visit the Consumer Genetics Show event website here.