NEW YORK (GenomeWeb) – Startup Genomics Personalized Health is the latest in a string of companies aiming to reduce the barriers for individuals who want to obtain and understand their own whole-genome sequence data.
Although it bills itself as a sequencing service provider, it is more of a facilitator — helping customers navigate their options based on cost, turnaround time, whether they want their sample sequenced in a CLIA-certified laboratory, and other factors.
The Santa Monica, California-based company then returns the genomic data to customers in a format that enables them to use web-based applications to analyze it.
GPH will also provide guidance in these next steps if customers desire, helping them find appropriate analysis and interpretation services. In addition, GPH will help find interpretation for customers who already have the sequence data but don't know what to do with it.
"We are a consumer-oriented genomics company that offers solutions to the general public and anyone who wants to use their genome information for their benefit," Cofounder and President Min Seob Lee told GenomeWeb.
Lee founded the company in 2015 along with Michael O'Reilly, anticipating that individuals would increasingly want their own genomic data. And although the whole-genome sequencing consumer market is still in its infancy, it will "become a big opportunity as the technology matures," Lee said.
Lee is also founder and president of Diagnomics, a San Diego, California-based bioinformatics firm, and CEO of South Korea's Eone Diagnomics Genome Center, a joint venture between Diagnomics and the Eone Life Science Institute.
GPH has relationships with several sequencing service providers, including Eone Diagnomics Genome Center, to provide sequencing services. The data is then returned to the customer in a BAM, VCF, or FASTQ format and stored in EDGC's HIPPAA-compliant cloud.
Customers are then free to use their data however they wish. O'Reilly told GenomeWeb that there are a number of web-based applications that will analyze genomic data, including Promethease, Sequencing.com, and MyGenomeBox. The latter, a South Korea-based startup founded by Lee earlier this year, serves as essentially an app store for genomic analysis, somewhat similar to how Illumina's Helix will operate.
The MyGenomeBox website is still a work in progress but ultimately will enable third-party genomic tool developers to upload their apps to the MyGenomeBox marketplace. Developers will set their own price and customers can upload sequence data and pick and choose which apps to purchase to analyze it. MyGenomeBox will receive 30 percent of the fee charged to the customer. Lee said the initial apps will focus on health, nutrition, and wellness, and use publically available data to educate customers on what their specific genetic profiles mean.
Although Lee founded both MyGenomeBox and GPH, the two companies are separate. Customers can use both together, or either on its own. Individuals can also upload 23andMe data to MyGenomeBox for further analysis.
Aside from MyGenomeBox, GPH also works with Sequencing.com, which also offers HIPPAA-compliant cloud storage and contains a variety of wellness apps as well as a rare disease screen. Sequencing.com is also based in Santa Monica and was founded in 2014 by Brandon Colby, who is also chief medical officer of Existence Health, a concierge medical practice.
Typically, when customers choose to have analysis at Sequencing.com, Colby will talk through the genomic analysis with the customer as well as the customer's doctor, O'Reilly said.
O'Reilly said that so far, GPH's main customers have been other scientists, who typically have a background in genetics. But, he thinks the next customer base will be concierge medicine — where primary care physicians work more closely with patients, often to establish a more holistic and predictive picture of a person's health, including integrating genomic data.
Companies like 23andMe and Ancestry.com have demonstrated that consumers are interested in their genetic data. And it's increasingly apparent that customers want more than they can get from their 23andMe reports. As such, companies like Promethease and GEDmatch have sprung up, providing a way for individuals to get more information from their raw data files.
Promethease, for instance, is a web-based service that accepts individuals' data files from 23andMe, Ancestry.com, and a variety of other sources, and then scours the data, linking SNPs to information from SNPedia.
Another new startup, Genos Research, founded by former Complete Genomics executives, will enable customers to get their exomes sequenced and to share that data with researchers.
GPH and MyGenomeBox are similar to Promethease, but go one step further, guiding individuals through the whole-genome sequencing process and returning an app-ready data file. O'Reilly predicted that as sequencing becomes cheaper and analysis tools more widely available and user friendly, the market will grow rapidly. The launch of Helix, in particular, will "light it up," O'Reilly said.
Lee said that GPH is seeking to set itself apart from Helix by being more open source and giving customers more choices. In addition, GPH's focus is on whole-genome data, while Helix will perform exome sequencing. In addition, customers do not need to have their genome sequenced by GPH to use its services. If a customer already has data, GPH will work with the customer to identify appropriate analysis and storage services.
GPH, MyGenomeBox, and other similar consumer-oriented genomics services seem to be occupying a regulatory gray area.
Sure Genomics, a Salt Lake City, Utah-based firm that began offering DTC whole-genome sequencing for $2,500, received a letter from the US Food and Drug Administration earlier this year stating that its SureDNA kit appeared to meet the definition of a device under the Federal Food Drug and Cosmetic Act, and that the company would be required to obtain FDA clearance for it.
But,Lee and O'Reilly do not think that their services would fall under the same requirement. GPH does not perform any clinical interpretation, but simply provides raw genomic data. And, Lee said that MyGenomeBox also does not do clinical interpretation, but simply provides a user interface to enable customers to link their personal genomic information to publically available data.