Data privacy in the age of personal genomics

An Author Correction to this article was published on 07 October 2019

This article has been updated

To the Editor — The growing adoption of personal genomics has attracted attention to various issues concerning genomic data privacy. For example, some personal genomics companies sell data to pharma companies, a practice that has been found to lack transparency1,2. Rapidly growing genomic databases also have attracted the interest of law enforcement and helped solve criminal cases3. This has drawn criticism due to concerns over government access to genomic data of individuals who have not committed any crimes. To many people, the risk of discrimination is the most concerning issue. In the United States, the Genetic Information Nondiscrimination Act protects individuals from discrimination by employers and health insurance companies. However, it does not apply to life insurance and disability insurance, nor does it protect from discrimination in other areas, such as education and housing. In the future, additional, potentially concerning, uses for genomic data may be developed. For example, personal genomic data might become valuable for targeted advertising.

These concerns might be justified, as risks of privacy infringement and discrimination have already become reality in some parts of the world4. Furthermore, privacy concerns must be addressed because they increasingly deter people from genetic testing and data sharing with researchers5. Here we propose a privacy-focused model for direct-to-consumer (DTC) personal genomics and outline multiple complementary approaches that can be used to secure genomic data (Table 1).

Table 1 Approaches to protecting genomic data privacy

User anonymity

Personal genomics companies may enable their customers to purchase genetic testing while remaining anonymous. To this end, cryptocurrencies, such as Bitcoin, can enable pseudo-anonymous transactions that rely on blockchain addresses, which have no connection to real-life identities, such as name, address or bank account6. In the past, this property has made cryptocurrencies attractive for black-market transactions and given them a questionable reputation. However, pseudo-anonymous payments can also facilitate the purchase of legal but potentially sensitive products and services, such as genetic testing.

Enabling pseudo-anonymous payments can eliminate several potential vulnerabilities individuals are exposed to when purchasing genetic testing services. Most importantly, enabling individuals to remain pseudo-anonymous would eliminate the dependence on data deidentification by personal genomics companies before data sharing. Additionally, because customer data such as name and credit card information do not need to be collected, individuals using such systems are at a reduced risk of being affected by security breaches.

However, as blockchain addresses are associated with real identities, transactions with cryptocurrencies are not fully anonymous. Furthermore, because verification of blockchain transactions requires them to be publicly readable, user privacy can be compromised if the identity of an individual behind a blockchain address becomes known. Some cryptocurrencies aim to address this vulnerability. For example, one approach is to encrypt transactions, which are publicly stored on a blockchain, and validate them using so-called zero-knowledge proofs7. This cryptographic technique enables verifying that a statement is true without revealing any information about the statement itself. This allows verification of blockchain transactions without revealing the addresses of senders or receivers.

Although purchases of genetic testing services can be effectively anonymized, genomic data cannot because they contain unique, inheritable genetic markers. This information can be used for long-range familial searches that can identify anonymous subjects by linking them to distant relatives whose identity is known8. Thus, because genomic data anonymization alone is insufficient to protect privacy, genomic data sharing must occur in a controllable, transparent and privacy-preserving manner.

Data access control

Individuals should have full control over their personal genomic data. However, today DTC genomics companies effectively own and control all genomic data that they produce1. This introduces several risks. First, centralized genomic databases could be breached by hackers, as has already happened in the past9. Second, access to genomic databases can be enforced by government agencies10. And third, because there are no checks in place, personal genomics companies may deliberately or inadvertently infringe data privacy.

This issue can in principle be addressed by enabling individuals to manage the encryption keys for their personal genomic data. This approach has already been adopted for other products, such as e-mail services where the provider does not have the ability to decrypt and access user e-mails11. However, there are several drawbacks. First, it is not possible to recover encryption keys if there are no backup copies. If a user loses the key for his personal genomic data, they will become permanently inaccessible. Second, this approach might hinder data sharing with investigators because users would have to manually approve every data access request. In particular, this might make it practically infeasible to access large genomic datasets.

Delegated access control that relies not on a single party but multiple independent organizations can be a reasonable compromise between security and usability. To this end, keys that are used to encrypt genomic data can be split into shares that are distributed to multiple, independent parties; for example, research institutions (Fig. 1). The key splitting scheme can also incorporate some redundancy by making a subset of key shares sufficient to reconstruct the encryption key and decrypt the data12. Multiparty access control would provide better protection against breaches and misuse because it distributes data access control and thus does not rely on any single trusted party. Furthermore, if the organizations that received encryption key shares are located in different jurisdictions or are anonymous, this approach would also prevent governments from obtaining access to genomic databases without also obtaining the consent of the individuals to whom the data belong.

Fig. 1: Multiparty data access control and record keeping on a blockchain.

Access to genomic data is controlled by multiple independent parties that hold shares of a split encryption key. Additionally, these parties maintain a blockchain that immutably and transparently stores data access requests and users’ consent.

Record auditability

To establish trust and incentivize genomic data sharing, data access requests and users’ consent must be communicated transparently and maintained immutably, which would ensure auditability and deter misuse. This can potentially be implemented using a blockchain—an immutable, public database that is maintained by a peer-to-peer network6. A network participant can propose to add a new entry to the blockchain by broadcasting a transaction to other participants in the network. The network accepts a new transaction only if it has been validated by a majority of participants. Transactions are bundled into timestamped blocks and each block references its preceding block, which creates a sequential ordering that prevents the deletion of data stored on a blockchain.

The blockchain can be maintained by the same network of organizations that hold encryption key shares and collectively control data access (Fig. 1). Thus, blockchains can supplement multiparty access control by enabling tamper-proof, auditable record keeping. Investigators who wish to access genomic data can write data access requests to the blockchain that include the investigator’s identity, affiliation and study description. In turn, individuals can write their consent to share their genomic data to the blockchain. Holders of encryption key shares can read out these access permissions from the blockchain, collectively decrypt data and provide access to the authorized investigator.

There are several examples of utilization of blockchain technology for auditable record keeping. For instance, Google subsidiary DeepMind developed a blockchain-like database for a tamper-proof recording of computations on clinical data from the United Kingdom’s National Health Service hospitals13. This ensures that consent for any data has been obtained from the patients. Another example is Estonia, where blockchain technology is being used to track when and how the health records of 1.3 million residents are being accessed14. Estonian citizens are able to log into their electronic profiles to express consent to different uses of their health data.

Secure data analysis

Although splitting of encryption keys and consent management on a blockchain can enable controlled and auditable data sharing, these technologies cannot protect shared genomic data against deliberate misuse. Privacy of shared genomic data can be preserved, however, by creating secure computing environments within which the data are analyzed. The idea of ‘bringing algorithms to the data’ rather than transferring data to external systems has already been adopted by several projects. For example, Blockstack is a company building a general-purpose, decentralized computing network that enables users to provide their own computing and storage resources to bring apps to wherever their data are located15. In genomics, the Global Alliance for Genomics and Health (GA4GH) Beacon Project has embraced a similar concept16. The Beacon Network is a federated ecosystem that consists of connected genomic databases that are owned by different organizations. Investigators can submit queries—for example, for the presence of specific genetic variants—and those queries are then executed on the decentrally stored data. The results are sent back to the investigator.

By bringing computations to the genomic data, potentially sensitive information can be protected from disclosure to investigators conducting a study. However, when data are decrypted for analysis, privacy could also be infringed by providers of data storage and computing services. Fully homomorphic encryption and secure multiparty computations are privacy-preserving technologies that can help address this challenge. These technologies make it possible to encrypt data such that they can be analyzed as if they were in plaintext, yet remain encrypted and thus protected during analysis. Although the adoption of privacy-preserving technologies has been hindered by insufficient performance, recent advances enable increasingly practical execution times and scalability. For example, one recent study has demonstrated scalable, privacy-preserving genomic data exploration enabled by a combination of multiple privacy-preserving technologies17. Another study has presented a secure multiple-party computation protocol for genome-wide association studies (GWAS) with a computational complexity that scales linearly, rather than quadratically, with the number of genomes18.

Toward privacy-focused personal genomics

Above, we propose multiple mechanisms that can be adopted by DTC genomics companies to enhance the protection of personal genomic data. However, these mechanisms also constitute self-imposed restrictions that go against the business model of extracting maximum value from generated genomic data. Whether a privacy-focused personal genomics company can be successful will depend on whether consumers will reward a focus on data privacy protection.

The general trend is that consumers are increasingly paying more attention to how businesses handle their personal data, compelling even large tech companies to adopt stricter privacy policies and more sophisticated data protection mechanisms. For instance, after widely publicized misuses, Facebook was subject to significant scrutiny from both the public and regulators. As a result, the company has announced a pivot toward becoming a privacy-focused social network and implementing end-to-end encryption of all communication19. Apple is moving in a similar direction with its commitment to build hardware and software that protect customer privacy, rather than collecting and monetizing user data20. At the same time, Google’s search engine business is experiencing growing competition from privacy-focused alternatives21.

In contrast to large, profitable tech companies, most DTC personal genomics companies might not be able to adopt more privacy-focused business models. High custom acquisition costs and low margins have forced them to leverage data monetization as an additional revenue stream. It has become a crutch that is used to justify unsustainable unit economics. Development of more attractive genetic testing products that generate more revenue at lower customer acquisition costs will be required to alleviate the dependence on data monetization. As multiple personal genomics startups are exploring privacy-focused business models, the market will soon determine the value of genomic data privacy.

Change history

  • 07 October 2019

    An amendment to this paper has been published and can be accessed via a link at the top of the paper.


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The authors thank J. Lunshof for critical discussion and feedback on the manuscript.

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Correspondence to Dennis Grishin.

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Competing interests

D.G. and K.O. are employees of Nebula Genomics, Inc., and G.M.C. is a cofounder.

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Grishin, D., Obbad, K. & Church, G.M. Data privacy in the age of personal genomics. Nat Biotechnol 37, 1115–1117 (2019).

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