9 April 2018

Dr Axel Schumacher

Chief executive and co-founder of the blockchain-enabled genomic data-hub startup Shivom By

Appeared in BioNews 944

Reading Debbie Kennett's recent comment article on personal genetic testing (see BioNews 939), I found myself in complete agreement. The growth in the personal genetic testing market is undeniable and, for those of us involved, the description she gives of how DNA data is being used in ways that test existing laws and regulations is all too familiar.

The article focused on the implications for the donor conception community, but this is not the only area of controversy. Our ability to quickly and inexpensively generate and analyse genetic data is far outstripping privacy protection and consumers' ability to control access to their very personal data.

At present, individuals are not empowered with control over how their DNA data is accessed, sold and distributed. In many cases, they cannot easily access genetic counsellors to help them interpret what the data reveals. Their highly sensitive information might be stored in an environment that is susceptible to a hack or data breach.

In the wrong hands, access to identifiable genetic information could lead to genetic discrimination or worse – not just against the donor, but his or her family as well. This situation truly is a ticking time bomb if we do not do something to resolve it soon. Fortunately, I believe that blockchain technology can provide a solution.

Due to the growth of personal genetic testing, major advances in precision medicine could be closer than they've ever been before. In the UK, the 100,000 Genomes Project has reached its halfway point, and Illumina has unveiled a sequencer that is expected to eventually provide a whole genome reading for less than US$100. With these massive new genome datasets, researchers have the opportunity to identify treatments for more than 7000 rare diseases, as well as cancers, complex and long-term diseases and infections.

However, there is a problem. There is already heightened public anxiety over what third-party organisations are doing with their online data. When you consider how rich genomic data is, the opportunities for misuse could be enormous.

Not only do consumers have zero control over how this sensitive data is used or who can access it, but most have no idea what these companies are doing with their data. Very few consumers know whether they own their genetic data, whether they can access their data, who else can access their data or whether ownership terms remain the same should there be changes at the company storing it, such as its acquisition by another company.

Then there is the question of how the data is stored. Centralised databases of sensitive information are a hugely attractive target for hackers. As we've seen in the past year, even leading data companies like Equifax can be hacked, with more than 145 million people's data exposed. What would be the implications of such a breach were DNA data being held?

Blockchain is a solution. A blockchain is a distributed, or shared database that is maintained across a network of computers across the globe. This network is essentially a chain of computers that must all approve an exchange before it can be verified and recorded. Old entries live forever on the database and new entries are irreversible. If someone were to try to dishonestly change an entry on one computer, those changes would be rejected by the many computers used in the verification process because the data wouldn't match up.

Cryptography is the key feature to understand in blockchain technologies. The contents of messages or transactions in a blockchain network are encrypted so that only intended users can access the content. The encryption process works because of asymmetric cryptography, a system that uses pairs of keys. A public key may be disseminated widely to everyone, while a private key is known only by its holder.

Either key may be used to encrypt a message but the other key must be used to decrypt the message. In this way, a patient can encrypt their genomic data with a public key and be sure that only the holder of the private key, who they choose to share it with, can decrypt it. In this way, it is incredibly tough for one party to manipulate individual records, and blockchain can provide a transparent and secure bridge to organisations interested in using that data.

As a result, blockchain is ideally suited to address most trust issues, such as patient consent, unclear data ownership, data integrity, user authentication, enabling complex data rights management and fine-grained access using smart contracts. Individuals don't have to hope that an organisation storing it is doing so in a secure way, or that it won't be shared without their permission, because they are controlling access themselves.

In the field of genomics, building trust is so important because, once trust is established, individuals will start to feel empowered to benefit from their data. They can choose to share it with a globally distributed network of genetic counsellors, who can advise them on the best course of action. They can also choose to share it with medical research projects that they feel put the information to good use. With blockchain, the choice is in the hands of the individual.

Creating a system in which people are in control of their genetic data can help usher in an era of open, collaborative and data-driven science that paves the way for precision medicine. Bringing these technologies together can create a critical mass to accelerate transformative disease prevention and personalised healthcare across the world.