In the fall of 2009 at the first Consumer Genetics Show in Boston, whole genome sequencing company Illumina's CEO Jay Flatley announced plans to develop an iPhone app, called MyGenome, that would give users access to their own fully sequenced genome.
“Ultimately, we think this data needs to be mobile-connected and probably in the cloud,” Flatley said at the time as he cued a series of slides that showed rough concepts for a Illumina iPhone app. “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.”
This week Illumina announced the launch of the MyGenome application for Apple's iPad. It costs $0.99 and is available for download from the AppStore now. While the application does not include the personal genomic data for its customers yet, the concept is still the same: The app helps users "explore a real human genome and view reports about important genetic variations through a simple, intuitive, and educational interface for genetic data exploration and learning."
“Illumina’s vision of a future where healthcare is made more precise through the use of genetic information, together with our position as a sequencing technology leader, puts us in an ideal position to stimulate interest in a mainstream tool for genomic exploration," Flatley stated in this week's announcement. "The MyGenome app is an exciting educational tool that enables consumers to learn how much we already understand about variation in the human genome, served up in a graphically accessible format. This first version of the app provides a glimpse of what we think could become a clinical tool for use by physicians with their patients to improve understanding and communication of genetic data.”
Illumina said that future versions of the MyGenome app will allow users to download their own data securely. Interestingly, Illumina said a physician could use the app to view the results of genetic tests they have ordered -- including for issues like Mendelian disorders and pharmacogenomic drug response -- before providing direct access to consumers.
Shortly after Illumina demo'd its MyGenome app concept at the Consumer Genetics Show in 2009, Apple interviewed Flatley for the iPhone business section of its website.
“Illumina is developing an iPhone application that will allow consumers to carry around their genomic information,” Flatley explained to Apple three years ago. “Part of it may be on the phone itself, part of it may be in the cloud that the phone would have access to. It would allow the customer to bring up the application and interact with it live in conjunction with their doctor.”
“The understanding of the human genome, which is very inaccessible to most people, can start to become accessible through iPhone,” Flatley said at the time. “It will be a mechanism for communications, for sharing, and for data management. iPhone can translate something very complicated into something very user-friendly.”
The app's launch is another baby step toward the marriage of genomics and wireless health, a mega-trend long predicted by Dr. Eric Topol.
More on the first iteration of the Illumina MyGenome app in the press release below:
SAN DIEGO -- Illumina, Inc. (NASDAQ:ILMN) today announced the availability of its MyGenome application for the iPad, available for download on the App Store(SM) for 99 cents. Illumina’s MyGenome app empowers users to explore a real human genome and view reports about important genetic variations through a simple, intuitive, and educational interface for genetic data exploration and learning.
“Illumina’s vision of a future where healthcare is made more precise through the use of genetic information, together with our position as a sequencing technology leader, puts us in an ideal position to stimulate interest in a mainstream tool for genomic exploration," said Jay Flatley, Illumina’s President and CEO. "The MyGenome app is an exciting educational tool that enables consumers to learn how much we already understand about variation in the human genome, served up in a graphically accessible format. This first version of the app provides a glimpse of what we think could become a clinical tool for use by physicians with their patients to improve understanding and communication of genetic data.”
Key features of the MyGenome app include:
Genome Map - for touring the landscape of chromosomes and visualizing how genetic variants in different locations translate into health impacts or biological traits. Users can view individual genes, their locations, and biological impacts, as well as visualize where and how genome sequences differ from the “reference” human genome. Illumina’s Flatley donated his genome as the first example of a consumer genome that is compared to the reference genome for educational purposes.
Health Cards - for exploring genetically determined conditions and predispositions, and carrier traits. Users can discover how different genetic variants can contribute to health risks and can be passed on to children, as well as find out how changes in the genome may affect drug response.
Reports - for investigating the possible health impacts of genetic variants for more than 250 conditions. These reports illustrate how genetic information will likely be delivered in the future and used by medical professionals to interpret and understand the human genome.
As new genomic discoveries occur, or as more becomes known about existing conditions, updates to the application will contain and “flag” those new pieces of information – making the MyGenome app an ever-evolving tool.
Future versions of the MyGenome app also will enable the download of consumer data in a secure fashion. Specifically, as part of its Individual Genome Sequencing (IGS) service in the CLIA-certified laboratory, Illumina plans to deliver genetic data to the ordering physician via the MyGenome app. The physician will access a consumer’s genomic information from the app, allowing them to visualize the genome and interrogate it for issues such as Mendelian disorders and pharmacogenomic drug response, before providing direct access to the consumer.
Further, at Illumina’s Understand Your Genome event in October, invitees from the healthcare industry will have the opportunity to view their own genetic information using the MyGenome app, after being sequenced through the IGS service with an order from their physician. Illumina will use feedback from consumers as well as these healthcare industry participants to further guide the tool’s evolution.
For more information about Illumina’s Individual Genome Sequencing Service, please visit www.everygenome.com.
Illumina (www.illumina.com) is a leading developer, manufacturer, and marketer of life science tools and integrated systems for the analysis of genetic variation and function. We provide innovative sequencing and array-based solutions for genotyping, copy number variation analysis, methylation studies, gene expression profiling, and low-multiplex analysis of DNA, RNA, and protein. We also provide tools and services that are fueling advances in consumer genomics and diagnostics. Our technology and products accelerate genetic analysis research and its application, paving the way for molecular medicine and ultimately transforming healthcare.