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South Korea's MyGenomeBox Provides One-Stop Shop for DTC Data Storage, Genomics Applications


Update: This article has been changed to note that while long-term storage is free for active MyGenomeBox users, there may be limits for non-active clients.

NEW YORK (GenomeWeb) – Newly-minted bioinformatics company MyGenomeBox is seeking to build a business around offering storage resources for genomic data to individuals who have had their genomes sequenced as well as a forum for third-party developers, who have created software applications for exploring genetic and phenotypic features, to interact with consumers.

As with the Apple app store or Google play, third-party application developers build apps that can, for instance, identify interesting phenotypes or provide ancestry information, and then market them directly to customers who choose to store their sequence information on MyGenomeBox, explained the company's founder Min Seob Lee. Developers can offer their apps for free or for a fee — currently all priced apps cost less than $20. They also determine pricing for the apps and take home 70 percent of the fee while the remaining 30 percent goes to MyGenomeBox.

Anyone can develop apps for the platform, which leverages Microsoft's Azure cloud infrastructure, and developers do not need to have programming experience to create them. However, apps do have to pass a quality control process before being approved for inclusion in the app store. Specifically, the apps are used to process genomic data from a 1,000-person test cohort, gleaned from publicly available sources, to ensure that they run correctly and return accurate information, Lee said. App developers are also required to provide the source material for any results that they provide to consumers of their apps. The company has also implemented a grading system for users to offer feedback about apps — poorly rated apps are automatically deleted from the store, according to Lee.

On the consumer side, any individual that has access to their genomic sequence can use the MyGenomeBox platform to house their information for free. They can then purchase apps to explore their genomes in greater depth. Whole-genome sequencing data is ideal for customers who want to use the apps to explore their genomes, Lee said, however, the apps can also work with whole-exome sequencing as well as array data. App developers never see their customers' data nor can they access it in any way.

MyGenomeBox is the latest in series of companies that Lee has founded in recent years. In 2012, he launched Diagnomics, a San Diego-based bioinformatics company that offered a web-based platform for processing and annotating next-generation sequencing data. It was one of three bioinformatics companies tapped by Illumina in 2012 to provide genomic analysis services for customers of its sequencing services business. Lee is also a co-founder of Genomics Personalized Health, a Santa Monica, California-based startup, that helps customers who want to get their whole genomes sequenced navigate existing options and select the most appropriate service provider for their needs based on cost, turnaround time, and other factors. 

Lee told GenomeWeb that the idea for MyGenomeBox grew out of Diagnomics' involvement in Illumina's sequencing services business. Following the company's selection as an Illumina partner, Lee said that his company began receiving requests from individuals who by then had spent upwards of $5,000 to get their genomes sequenced and were uncertain about what to do with their reports or with the bam files they received. Others reported that the disks containing their sequence files had been damaged and the owners were unable to retrieve their files. "There was clearly a gap," he said.

Large research institutes have well-organized systems for storing data and experts that know how to use genomic data. Members of the public, on the other hand, "are pretty much lost," he said. Some individuals have sequence data from multiple sources that they have no idea how to use much less store.

MyGenomeBox provides a one-stop shop for addressing these issues. Active customers can store their data for free in the company's platform for as long as they like — there may be a limit for non-active members — and retrieve it as needed, "kind of like Dropbox for your genomes," as Lee put it. Once customers have uploaded their data to the platform, MyGenomeBox converts the files into the appropriate format for available apps so that all users have to do is launch the app to begin learning about their ancestry, or how much Neanderthal DNA is present in their genome, or their disease risks, such as APOE status, he said.

In recent months, several companies that have attempted to offer direct-to-consumer genomics products have run afoul of the US Food and Drug Administration's regulations. One of the most recent cases was Tute Genomics, now owned by PierianDx. Prior to being acquired, Tute launched a Kickstarter effort, through which it planned to offer whole-genome and whole-exome sequencing and analysis services directly to consumers. The company suspended the Kickstarter shortly after the launch after it received a letter from the FDA expressing concerns about its approach of marketing genome sequencing and analysis directly to consumers. Earlier this year, Sure Genomes, a company that planned to offer whole-genome sequencing directly to consumers, received a letter from the FDA asking why the company was marketing the test to patients without its clearance.

But Lee does not believe that MyGenomeBox will have problems with the FDA because it is not offering laboratory testing to patients. The company does not collect any samples or offer sequencing services, and it does not perform any of the upstream analysis tasks such as sequence alignment and variant calling. "This is a pure information business … for people who already have their data," he stressed.

Although it shares the consumer genomics app store approach with companies like Helix, MyGenomeBox targets a different segment of the consumer market in that it is trying to woo customers who have already had their samples sequenced. In contrast, Helix targets clients who have never been sequenced and offers sequencing services along with its app platform.

The market for individuals that have already been sequenced is quite sizable, according to Lee. He believes that globally more than a million people already have had their personal genomes sequenced. Adding in individuals who have access to array data from having their samples analyzed by companies like 23andMe and Ancestry, and that number climbs to as many as four to five million people globally with some form of sequence data, he said. And that number is expected to rise dramatically in the coming years. According to at least one estimate, within 20 years, 90 percent of the world's population will be sequenced. "I'm trying to find a way [for] people who have done genome analysis before [to] use it [and] store it so that in future whenever they need [to]… they can access and use it for their own benefit," Lee said.

Meanwhile, Lee is continuing to grow Diagnomics' business. It initially was a purely informatics business focused largely on servicing research clients, but more recently has expanded to include cloud-based pipelines that clinical laboratories can use to support their NGS tests, Lee said. It also is setting up a laboratory in the San Diego area through which it will be able to provide sequencing services to clinical customers. Furthermore, Diagnomics plans to launch a technology innovation center in January next year through which it will offer access to its informatics pipelines, cloud computing infrastructure, and laboratory services to startups that are looking to launch their own genomics businesses, Lee said.