Privacy in the Genomic Era

Genome sequencing technology has advanced at a rapid pace and it is now possible to generate highly-detailed genotypes inexpensively. The collection and analysis of such data has the potential to support various applications, including personalized medical services. While the benefits of the genomics revolution are trumpeted by the biomedical community, the increased availability of such data has major implications for personal privacy; notably because the genome has certain essential features, which include (but are not limited to) (i) an association with traits and certain diseases, (ii) identification capability (e.g., forensics), and (iii) revelation of family relationships. Moreover, direct-to-consumer DNA testing increases the likelihood that genome data will be made available in less regulated environments, such as the Internet and for-profit companies. The problem of genome data privacy thus resides at the crossroads of computer science, medicine, and public policy. While the computer scientists have addressed data privacy for various data types, there has been less attention dedicated to genomic data. Thus, the goal of this paper is to provide a systematization of knowledge for the computer science community. In doing so, we address some of the (sometimes erroneous) beliefs of this field and we report on a survey we conducted about genome data privacy with biomedical specialists. Then, after characterizing the genome privacy problem, we review the state-of-the-art regarding privacy attacks on genomic data and strategies for mitigating such attacks, as well as contextualizing these attacks from the perspective of medicine and public policy. This paper concludes with an enumeration of the challenges for genome data privacy and presents a framework to systematize the analysis of threats and the design of countermeasures as the field moves forward

I-GWAS: Privacy-Preserving Interdependent Genome-Wide Association Studies

Genome-wide Association Studies (GWASes) identify genomic variations that are statistically associated with a trait, such as a disease, in a group of individuals. Unfortunately, careless sharing of GWAS statistics might give rise to privacy attacks. Several works attempted to reconcile secure processing with privacy-preserving releases of GWASes. However, we highlight that these approaches remain vulnerable if GWASes utilize overlapping sets of individuals and genomic variations. In such conditions, we show that even when relying on state-of-the-art techniques for protecting releases, an adversary could reconstruct the genomic variations of up to 28.6% of participants, and that the released statistics of up to 92.3% of the genomic variations would enable membership inference attacks. We introduce I-GWAS, a novel framework that securely computes and releases the results of multiple possibly interdependent GWASes. I-GWAS continuously releases privacy-preserving and noise-free GWAS results as new genomes become available

Evaluating Methods for Privacy-Preserving Data Sharing in Genomics

The availability of genomic data is often essential to progress in biomedical re- search, personalized medicine, drug development, etc. However, its extreme sensitivity makes it problematic, if not outright impossible, to publish or share it. In this dissertation, we study and build systems that are geared towards privacy preserving genomic data sharing. We first look at the Matchmaker Exchange, a platform that connects multiple distributed databases through an API and allows researchers to query for genetic variants in other databases through the network. However, queries are broadcast to all researchers that made a similar query in any of the connected databases, which can lead to a reluctance to use the platform, due to loss of privacy or competitive advantage. In order to overcome this reluctance, we propose a framework to support anonymous querying on the platform. Since genomic data’s sensitivity does not degrade over time, we analyze the real-world guarantees provided by the only tool available for long term genomic data storage. We find that the system offers low security when the adversary has access to side information, and we support our claims by empirical evidence. We also study the viability of synthetic data for privacy preserving data sharing. Since for genomic data research, the utility of the data provided is of the utmost importance, we first perform a utility evaluation on generative models for different types of datasets (i.e., financial data, images, and locations). Then, we propose a privacy evaluation framework for synthetic data. We then perform a measurement study assessing state-of-the-art generative models specifically geared for human genomic data, looking at both utility and privacy perspectives. Overall, we find that there is no single approach for generating synthetic data that performs well across the board from both utility and privacy perspectives

Systematizing Genome Privacy Research: A Privacy-Enhancing Technologies Perspective

Rapid advances in human genomics are enabling researchers to gain a better understanding of the role of the genome in our health and well-being, stimulating hope for more effective and cost efficient healthcare. However, this also prompts a number of security and privacy concerns stemming from the distinctive characteristics of genomic data. To address them, a new research community has emerged and produced a large number of publications and initiatives. In this paper, we rely on a structured methodology to contextualize and provide a critical analysis of the current knowledge on privacy-enhancing technologies used for testing, storing, and sharing genomic data, using a representative sample of the work published in the past decade. We identify and discuss limitations, technical challenges, and issues faced by the community, focusing in particular on those that are inherently tied to the nature of the problem and are harder for the community alone to address. Finally, we report on the importance and difficulty of the identified challenges based on an online survey of genome data privacy expertsComment: To appear in the Proceedings on Privacy Enhancing Technologies (PoPETs), Vol. 2019, Issue

Secure and Distributed Assessment of Privacy-Preserving Releases of GWAS

Genome-wide association studies (GWAS) identify correlations between the genetic variants and an observable characteristic such as a disease. Previous works presented privacy-preserving distributed algorithms for a federation of genome data holders that spans multiple institutional and legislative domains to securely compute GWAS results. However, these algorithms have limited applicability, since they still require a centralized instance to decide whether GWAS results can be safely disclosed, which is in violation to privacy regulations, such as GDPR. In this work, we introduce GenDPR, a distributed middleware that leverages Trusted Execution Environments (TEEs) to securely determine a subset of the potential GWAS statistics that can be safely released. GenDPR achieves the same accuracy as centralized solutions, but requires transferring significantly less data because TEEs only exchange intermediary results but no genomes. Additionally, GenDPR can be configured to tolerate all-but-one honest-but-curious federation members colluding with the aim to expose genomes of correct members

Cryptographic solutions for genomic privacy

With the help of rapidly developing technology, DNA sequencing is becoming less expensive. As a consequence, the research in genomics has gained speed in paving the way to personalized (genomic) medicine, and geneticists need large collections of human genomes to further increase this speed. Furthermore, individuals are using their genomes to learn about their (genetic) predispositions to diseases, their ancestries, and even their (genetic) compatibilities with potential partners. This trend has also caused the launch of health-related websites and online social networks (OSNs), in which individuals share their genomic data (e.g., OpenSNP or 23andMe). On the other hand, genomic data carries much sensitive information about its owner. By analyzing the DNA of an individual, it is now possible to learn about his disease predispositions (e.g., for Alzheimer’s or Parkinson’s), ancestries, and physical attributes. The threat to genomic privacy is magnified by the fact that a person’s genome is correlated to his family members’ genomes, thus leading to interdependent privacy risks. In this work, focusing on our existing and ongoing work on genomic privacy, we will first highlight one serious threat for genomic privacy. Then, we will present the high level descriptions of our cryptographic solutions to protect the privacy of genomic data. © International Financial Cryptography Association 2016