How Blockchain Is Helping Genomics Research

By Joe Stanganelli

May 4, 2016 | John Mattison has a unique pedigree in the intersection of medical research and digital technology.  In addition to being Chief Medical Information Officer for Kaiser Permanente, Mattison co-chairs the eHealthWorkgroup for the Global Alliance for Genomics and Health ("GA4GH") and serves as an advisor to Rock Health – a venture-capital fund focusing exclusively on the digital health sector.  It is perhaps only natural, then, that Mattison would be on the cutting edge of healthcare and life-science applications for nascent technologies.

One such technology is blockchain, and in a presentation on emerging technologies at the Bio-IT World Conference & Expo this year in Boston, Mattison predicted that blockchain, "is going to be the most disruptive technology in this space other than big-data analytics."

Blockchain has rapidly become ubiquitous since its beginnings more than seven years ago, but it has not quite reached household-name status yet.  Some readers may vaguely recognize it as being mentioned in conversations involving Bitcoin—and many still aren't entirely sure what that is, either.

What Is Blockchain?

A blockchain is a distributed database that acts as a peer-to-peer ledger system.  It is often discussed in the context of Bitcoin, a decentralized digital currency.

"The blockchain is…the core technology that underlies [Bitcoin] and what arguably gives it its value and utility," said Nathan Wosnack, Founder and CEO of blockchain technology startup Ubitquity, in an interview.  "The blockchain allows any individual or party to independently verify that a transaction or record existed in a certain form at a certain time."

The distributed, decentralized nature of blockchain allows for a truer, more independent consensus than any authority-based system, blockchain advocates argue.  To explain how this benefit works, Ubitquity CTO Christian Saucier used the example of a credit card transaction in a separate interview.

"Your bank or your credit card could reject the transaction, [putting you] at the mercy of [a] central authority [that can] go in and play around with those numbers and make those numbers appear or disappear magically," said Saucier.  "With blockchain, that is not possible.  There's no central database in blockchain technology."

Indeed, a blockchain works similar to torrenting or peer-to-peer systems, where thousands of computers around the world are connected and running the same software, working with the same data, and tracking the data all the way back to its origins.

Keeping Medicine Honest and Accurate

The inherent provenance benefits of blockchain are allowing the healthcare and life-science industries to indelibly record medicinal and genomic data that will effectively combat counterfeit pharmaceuticals and protect intellectual property.

One company that has made great strides in doing just that is Medicinal Genomics ("MGC").  MGC is a Boston-based plant-genomics company and wholly owned subsidiary of Courtagen Life Sciences—a clinical genomics firm devoted to sequencing patients with seizure disorders such as epilepsy, developmental and intellectual disabilities (including those on the autism spectrum), and mitochondrial disease.  According to Kevin McKernan, CSO of both MGC and Courtagen, all of these diseases have links to the endocannabinoid system, a system of receptors in the brain and central nervous system that help mediate mood, appetite and memory.  Because of this system's reaction to cannabis, medical marijuana research and treatment is of particular interest to both companies.  Accordingly, MGC focuses on safety testing and genomic fingerprinting for cannabis strains.

"We are using the blockchain for proof of existence," McKernan told Bio-IT World.  "It has various defensive IP benefits.  As cannabis patents issue, they are getting broad claims as there is no legitimate proof of prior art in the field.  The blockchain has become that proof of prior utility to publicly declare your genetics and hopefully [ward] off patent trolls from getting egregious claims."

McKernan went on to describe a "rush" to get strains "digitally notarized" via the independent and reproducible verification of blockchain technology as more patents with genotype claims issue.

Blockchain's provenance-proving capabilities go beyond IP protection, noted McKernan, reporting some companies are considering using blockchain for recording supply-chain data relating to LIMS transactions and chains of custody—ensuring that these data remain securely decentralized and encrypted.

Fighting the Ocean of Mistrust

Blockchain's strengths in proving accuracy and provenance also translate to enhanced trust in genomics research, which in turn fosters more and better data sharing, according to David Haussler, Director of the UC-Santa Cruz Genomics Institute and Co-Chair of GA4GH's Data Working Group.

"One of the key problems faced by [GA4GH] is that there's a significant social infrastructure that's highly nationalized around the world," Haussler told Bio-IT World, highlighting individual nations' genomics initiatives.  Consequently, genomics research is full of several centralized data silos—preventing researchers from seeing significant enough sample sizes for more efficacious data.  These phenomena, alleges Haussler, have subjected genomics data to "an ocean of mistrust"—necessitating decentralized ledgers like blockchain.

"[It's] fine if we're working together, but if one country is housing the central database, other countries feel that they're somehow secondary participants," said Haussler.  "And the other thing is that if you have a global corporation in charge of it, then there's a lot of suspicion about motives, [especially because] that global corporation is usually associated with one country."

Because public blockchains solve these issues and protect against manipulation, Haussler recently announced a GA4GH plan to use blockchain-based technology for internationally sharing genomics data on somatic cancer variants.  When collaborative entities use a blockchain, each independent computer node verifies the accuracy of copies, modifications, and data transactions.  As such, trust is placed in the algorithms of the blockchain—in math—instead of in a siloed third party.  Additionally, the decentralized nature of blockchain keeps costs down – making it and the data it carries more accessible to poorer countries.

Private Data May Lead to Private Blockchains

Unfortunately, the very aspects that make blockchain so great for data sharing and collaboration also make it problematic from a compliance perspective.  Data privacy is top of mind for global organizations, especially because it is top of mind for regulators.  Using a public blockchain may be unfeasible, therefore, for collaborations involving CROs in countries that are more privacy-sensitive, such as EU member states.

"I don't think blockchain would necessarily be a good choice [in that environment]," conceded Saucier.  "[O]n the contrary, blockchain's strength comes into play when you have a multiplicity of players who need to share and collaborate around a particular set of data, and because blockchain is really something that exists on the Internet, it is very blind to national borders.  [In] the situation where you don't want the data to move, blockchain almost does the opposite.  Blockchain will move data regardless of any physical limitations you might want to try to put on that data."

Fortunately, there are workarounds.  Some organizations are implementing "private blockchains"—hybrid ledgers that exist in more controlled, centralized environments.  Unlike a true, public blockchain, everything a private blockchain does remains subject to—and changeable by—a central, independent authority.  Consequently, unlike with public blockchains, the trust issues that concern genomicists like Haussler are not assuaged by a private blockchain.  Haussler does predict, however, that private blockchains will still have their place in work involving highly sensitive data, such as where patients or subjects' entire genome might be stored in the system.

On the other hand, blockchain is inherently "a very secure system," said Saucier, because encryption is inherent to its design.  This can make public blockchains very useful for identity access management.

"[O]nce you're given an ID on the blockchain, there's no revoking it," said Saucier.  "Everybody knows that this is gonna be you and it could only be you because you were the only one who was given the private key to that identity."

Still, private blockchains may be more appropriate for restricting data access because they allow a central authority to control such restrictions.  While this is just another way of creating data silos, both types of blockchains will have a place in tomorrow's research organization.

"I think you'll start seeing large multinational companies deploy internally these [private] blockchains just as a means to exchange data, to validate information, [or] to digitally sign contracts or agreements," Saucier explained.  "[But] when you look at doing things like…publishing a finding [or IP], from a public perspective, obviously the public blockchains are the way to go."