NEW YORK (GenomeWeb) - For years, George Church, the Harvard University genomics researcher and entrepreneur, has been trying to build communities around the idea of sharing information.
In addition to the Harvard Personal Genome Project, which he founded in 2005, he has served as an early-stage advisor to several other companies built around the exchange of genomic data, namely 23andMe and Genos Research.
"Each of these were experiments," he said. But none seem to have fully resonated with his vision for such a community. For example, he noted that with 23andMe, "there was no mechanism by which you could get money back," he said. "Once they got the genome, it was all profit for them."
Now, Church has started another experiment in community building: Nebula Genomics, a new firm he co-founded with Dennis Grishin, a doctoral student at Harvard, and Kamal Obbad, a former Google employee.
"The other ones, I did them because there wasn't another thing on the table," Church said. "But this one really seems to click."
The Nebula Genomics team has conceived of a new platform for the exchange of genomic data built on blockchain technology, which is best known for being the foundation of cryptocurrencies like Bitcoin. Nebula Genomics is just one of several firms that have been launched in the last few years with similar visions of creating markets for genomic information. Others include Luna DNA, Encrypgen, Zenome, MyGenomeBank, and Genomes.io, while still others have proposed using blockchain to create markets for personal health information besides DNA.
Generally, these firms say that their model provides something that existing genomic service providers and data resellers, such as 23andMe, do not: compensation and control. A Bitcoin-like token is central to both. Sharing genomic info will allow individuals to accumulate rewards, which can be used either for genomic analysis services provided by third-party application developers, or, in some instances, exchanged for money. Because these tokens are the method of exchange in the blockchain system, every transaction is completed only with the permission of the data's owner — whether that's an individual or an institution, like a biobank.
Dmitry Kwon, a business advisor to Moscow-based Zenome, and a Russia-based employee of Agilent Technologies, said "You can share [information] once, and after that the company you have shared your data with will not be able to share or sell these data to someone else."
Recent reports on blockchain in genomics, from popular news outlets such as Wired, have focused on the coins that offer individuals a chance to participate in — and reap rewards from — the exchange of genomic information. Most of the firms that spoke to GenomeWeb for this article offer, or will offer, a blockchain-based token, but they said that blockchain offers significant advantages to the buyers as well as sellers.
Grishin said Nebula could help solve the headache of acquiring genomic data. "Right now, you have to manually contact different data banks with emails or phone calls, asking what kind of data they have, signing forms, dealing with consent issues, transferring payments. Only in the end do you get the data you're looking for and you have to do this multiple times. And after you obtain the data, you need to curate it before you can analyze it."
David Koepsell, a bioethicist and author who co-founded Encrypgen with his wife, Vanessa Gonzalez Covarrubias, a pharmacogenomics researcher at Mexico's National Genomic Medicine Institute (INMEGEN,) said they are building "a whole ecosystem dealing with genomic data. We'll be creating a whole new pool of data for buyers. We'll be aggregating metadata, too. We want to make sure we can help to mine the data for interesting variants."
He added that Encrypgen is working with researchers to develop "bioinformatics stuff behind the scenes that will be helpful to anyone doing studies to make sure this is a unique and helpful product."
And security features inherent to the blockchain may give researchers, as well as individual participants, peace of mind.
"This is the first reasonable scientific method I've heard of that can safely and effectively protect the privacy and confidentiality of people's genomes," said Peter Elkin, chair of biomedical informatics at the University at Buffalo. He has been scoping out several of the new blockchain-based genomic data-sharing platforms that have launched in the last few years, including Encrypgen.
"That has always been the real worry of scientists, that mostly went unstated — that once we start adding genomic data to clinical data, we no longer have the ability to de-identify that data. Blockchain gives us increased confidence that we can protect that privacy of participants and that makes it practically easier to do clinical genomic research."
"It's pretty cool," he said. "The downside is these are computationally intensive systems."
As GenomeWeb reported last summer, the use of blockchain for precision medicine has seemed mostly theoretical to industry observers, despite the number of firms popping up aimed at applying genetic data to the healthcare market. But growing interest in the technology and the participation of notable genomics industry researchers, such as Church, could propel its use sooner rather than later.
The first instance of a blockchain emerged in 2008 in a paper laying out the idea of Bitcoin written by Satoshi Nakamoto, which is widely believed to be a pseudonym for either an individual or a group of people.
Bina Ramamurthy, a professor of computer science at Buffalo, who has worked with Elkin on the potential of blockchain in bioinformatics, described the blockchain as an unchangeable, decentralized record of transactions. This enables the exchange of information, absent a central authority. For Bitcoin, this information was simply the amount of the coin exchanged between two parties. "But the payload doesn't have to be digital currency," she said. "It can be genetic data."
Because the transactions can be seen by anyone in the network, it provides transparency. "It records what I transacted with you," Ramamurthy said. "What happened to that genomic item? The blockchain has provenance of this and proof that I sent this genomic data to you."
But the blockchain isn't a place to store the genomic data itself, she said. Rather, what the blockchain might record is a key to unlocking that information on another, secured, storage platform.
That key is controlled by the data owner, who gets to decide which parties can access it. And on the blockchain, whoever grants access to data can be compensated for that access.
Coins and chains
Almost all of the firms tout the ability of the data owner to receive compensation for sharing genomic data. That model isn't necessarily new and doesn't necessarily require a blockchain-based token. Genos, acquired last year by NantOmics for an undisclosed amount, touted a platform that would compensate customers for sharing genetic data, while entities like DNA.Land, founded by Columbia University researcher Yaniv Erlich, and Church's Personal Genome Project offer individuals the chance to share genetic data with researchers without recompense.
Koepsell, of Encypgen, said, "You could probably use fiat currency or another mechanism, but blockchains are also well suited for conducting transactions. If you're getting data from people around the world, it's better to use a single token than using different currencies."
At Encrypgen, the token, which carries the symbol "DNA," equivalent to a stock's trading symbol, is already available on cryptocurrency exchanges. Koepsell said the firm uses different blockchains for the coin and the data exchange platform, which is built on something called Multichain.
"Multichain is built primarily for permissions blockchains," Koepsell said. "It is compliant with most restrictive [data privacy] regimes. Right now the most restrictions are in the European Union. There, you need to grant permission any time anybody wants to use your data. Anybody who is not doing that will be out of compliance. We're designing for that, and that's better suited to accommodate international studies in genomic data."
However, Grishin, of Nebula Genomics, told us that blockchain tokens are also "the means of exchanging things," and are wrapped up in the rest of Nebula's platform. Nebula has developed around the Ethereum blockchain, which enables something called "smart contracts." Luna DNA and Zenome are also based on Ethereum, while according to Genomes.io’s website, it uses Rockchain, which provides access rights management orchestrated by blockchain.
The smart contract is one feature of blockchain that offers large benefits to the data buyer.
"You can have a smart contract saying, 'I'm looking for a certain type of data and willing to pay x much,'" Obbad said. "It defines what kind of data you're looking for and how much you're willing to pay for it. Whoever executes that contract grants access to their data and gets access to a certain amount of the tokens defined by the data buyer."
Niches in the ecosystem
In addition to individuals, Nebula will also allow institutional owners of genomic data, such as biobanks, act as data sellers. In fact, it plans to offer space for a variety of entities. Like Encrypgen, Zenome, and others, in addition to buyers and sellers, third-party applications, usually offering some sort of analysis or interpretation to those holding genomic data, are an important part of the equation.
Koepsell said Encrypgen has partnered with Sequencing.com to offer applications. It has already partnered with Codigo46, a genetic testing firm, and HealthWizz, a medical data sharing firm.
Nebula has partnered with Veritas Genetics — also founded by George Church — and has been in talks with a variety of potential partners, including pharmaceutical companies, the names of which it declined to disclose.
These partnerships will form an important part of the business plans for the companies that spoke to GenomeWeb.
While many of the companies are building on the same technology, they indicated that they saw themselves occupying different niches. Some even saw opportunities for collaboration with other firms touting use of the blockchain.
Grishin said Nebula has had "multiple conversations" with Luna DNA. "Based on what we know, what they told us, our models are quite different. There's possible collaboration there. We are trying to build the infrastructure to share and buy data. They want to play the role of someone who collects, aggregates, and sells data." He added that it's possible Luna's tokens could be exchanged on Nebula Genomics' network.
Meanwhile, for Encrypgen, Koepsell hopes that its DNA coin will "be the coin for all genomics blockchains."
"We think the token will come to represent the value of genomic data itself," he said, adding that Encrypgen is open to integrating its platform with others.
"With the proliferation of genomic blockchains, users will be hurt if one company goes out of business and its services are no longer available. We want to make sure our [platforms] are integrated, and we'll avoid the VHS/Beta problem," where incompatible home video technologies competed with each other and one simply won out over another.
To that effect, Koepsell has launched a genomic blockchain consortium with two other companies, MyGenomeBank and Genomes.io.
More than the means of exchange
Blockchain may have applications in genomics beyond data exchange. Christopher Mason, a researcher at Weill Cornell Medicine, said observers should watch the hype, but he added, "I'm cautiously optimistic." (Mason co-founded Pillar Health, which aims to provide multi-omics analysis geared for the consumer health market.)
"I think it's great that [genomic data sharing] is being deployed on blockchain," he said. "We have to see what the uptake is. My only concern is it's new, so we don't know that it will be easy or seamless. It might be easy or it might take too much computer processing."
Mason said he has "dabbled" in Bitcoin over the last four years and has begun thinking about other ways that blockchain could be useful for genomics. He is also the primary investigator on a grant from the US Food and Drug Administration's Sequencing Quality Control Phase II (SEQC2) project.
As part of his work on this grant, he's looking at blockchain as a way to audit genomic data and analysis.
He also pointed to a recent paper published to the arXiv preprint server by researchers from Italy's Fondazione Bruno Kessler, led by Cesare Furlan, which proposed using blockchain to help scientific data reproducibility.
"The provenance tracking the technology gives you is, in theory, unambiguous," Mason said. "You can trace any kind of misuse. But the implementation of the idea is sometimes more important that the concept itself."
Will they come?
The firms building genetic information exchanges face a number of daunting challenges. They'll have to convince both buyers and sellers to participate, and they'll have to convince both groups to trust the blockchain to handle genetic information.
For Elkin, the University at Buffalo bioinformatician, the demand for blockchain-based data sharing is there. He is considering how to use blockchain to make patient data "safely available" for use in the university's precision medicine program. "We would use it to encrypt and encode genetic information for our patients and to be able to exchange that with other researchers who collaborate on investigative studies."
He said he didn't think firms would have a hard time getting both buyers and sellers to sign up.
Koepsell said he believes "most Americans are interested," in sharing genetic data, though they are attuned to issues about privacy and potential misuse of the most personal of information. He pointed to a 2017 study published in Cell, which surveyed US adults about willingness to participate in biobanks. About two-thirds said they would be willing to, with more than 80 percent voicing concern over what would happen if the data were misused. He added, "we are making it possible to conduct business easily with our blockchain with no blockchain knowledge."
But awareness of blockchain technology and willingness to use it, using Bitcoin as a proxy, remains low — and skews young, white, and male. According to a recent survey, conducted by the Global Blockchain Business Council and Surveymonkey, an online survey company, only one in 20 Americans owns Bitcoin and only one in four are considering investing in it.
And Kwon acknowledged that there is still a fair amount of uncertainty over what the technology can do for genomics. "At the moment, blockchain applications in genomics, it's not a very clear thing to understand," he said. "[Data] buyers are not waiting for the leader, they simply would like to understand what it will be."