Owning Your Data: The Genos Model
By Allison Proffitt
July 6, 2016 | Consumer genomics startup, Genos, is expanding its beta program and inviting Bio-IT World readers to sequence their whole exome at CLIA-certified 75x coverage for $399.
The Complete Genomics spin-out has been “incubating for some time” and now CEO Mark Blumling is ready to test the vision: genomic information belongs to the individual, and it should be yours to explore, share, or monetize, as you see fit.
Eighteen months ago Cliff Reid, then President and CEO of Complete Genomics, brought Blumling on to start fleshing out what it might look like to sequence whole exomes (and eventually genomes) and give people complete control of their data. The idea was never meant to live inside Complete Genomics, Blumling told Bio-IT World. He likes to build start-up companies that can adapt bold ideas that are not necessarily best suited to larger corporations.
Genos is small. In addition to Blumling, the company has 11 full time staff and additional consultants. Reid serves as Executive Chairman; the company is privately funded.
The idea is simple: for a fee, Genos will sequence whole exomes or whole genomes. Genos is technology agnostic. Blumling said Genos wants to remain agile enough to choose the highest quality, fastest, and cheapest sequencing available. The company outsources its sequencing, but Blumling did confirm that sequencing is currently done on Illumina machines.
Genos CLIA-certified sequencing is done at 75x on-target coverage, and analyzed with GATK. Owners can download their VCF files. In case you have no idea what to do with VCF files, Genos has built a custom data visualization and exploration platform—Genos Explorer—that lets users dig into their findings. You can compare your exome to ClinVar, and sort your variants according to the ClinVar categories (benign to pathogenic and everything in between). You can dig down to particular variants or chromosomes. You can compare variants to the published literature. You can ignore all of it and participate in research studies. Or you can close your account. As Blumling said, “you own and control your data. Always”.
The beta phase has been ongoing for the past several weeks, Blumling said, and has been offered to members of Bioinformatics.org, alumni of the Personal Genome Project (George Church sits on the Genos advisory board), and others. Though the Genos beta is limited in numbers, Blumling doesn’t want the beta phase to be closed.
During the beta phase, one of biggest parts of the Genos vision isn’t live. No research projects are available yet, but Blumling said the company has been busy talking with both academic and industry researchers.
Once the company formally launches this fall, the research model will be simple. If sequenced individuals want to make that data available to researchers, they can. If researchers want the data, they pay for it. Genos collects a small percentage of the payment for facilitating the transaction, but the money goes to the data-owners.
Interestingly, you don’t have to have been sequenced by Genos to participate. Personal Genome Project members or other individuals with their sequence data can make it available to researchers on the Genos the platform.
“What we want to do is to drive personal exploration and research” Blumling said. For that reason, Genos will never offer gene panels. “Research requires—at minimum—exome data,” Blumling said. Genos plans to offer whole genome sequencing as well, though Blumling acknowledges that most consumers will likely choose exome sequencing.
There’s a lot about the model that still falls in the TBD column. Blumling says the company is still finalizing how researchers will be able to choose and purchase data, and how individuals will connect with research projects that interest them. He expects Genos customers to have access to surveys to submit phenotypic data and help stratify the database.
While the payment model is core to Genos’ mission, how much users are paid for their data and when are still details to be resolved. The $399 exome price is a beta-only price, Blumling said, though he couldn’t confirm what the eventual price may be.
In the meantime, Blumling said Genos is very interested in how beta users are interacting with the experience. “That’s a significant part of the beta phase,” he confirmed. Genos has reached out to beta customers to find out how they are using their data, how much time they are spending with it, how they may want to use it in research projects, and how their experience can be improved. “We want to build something people are excited about,” Blumling said, “which will change and evolve as we move forward.”
The Interpretation Question
If you find that you want help processing your new wealth of personal data, Genos will direct you to a firm of genetic counselors. The counselors are not on staff at Genos—and Genos collects no referral fee—but they are well-trained in Genos Explorer. Being very familiar with the platform allows the counselors to work efficiently with the data, and thus charge less. At $150/hour for genetic counseling, Blumling believes the counseling is “very affordable.” Blumling walked through the process himself, and called it a, “particularly profound experience and very worthwhile.” Of course users are welcome to take their data to any counselor or physician they want.
The separation between Genos and the genetic counselors is very deliberate. All customer orders are reviewed by an independent physician. Saliva samples are collected with an FDA-approved kit. Everything is CLIA-compliant, Blumling said. But the company is offering no interpretation, giving no medical reports, making no diagnoses. It’s a point Blumling emphasizes: CLIA-compliant; no interpretation.
In lieu of interpretation, Blumling reminds me, you own the data. “This is a really great opportunity for people to own their exomes and explore.”