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

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

Routes for breaching and protecting genetic privacy

We are entering the era of ubiquitous genetic information for research, clinical care, and personal curiosity. Sharing these datasets is vital for rapid progress in understanding the genetic basis of human diseases. However, one growing concern is the ability to protect the genetic privacy of the data originators. Here, we technically map threats to genetic privacy and discuss potential mitigation strategies for privacy-preserving dissemination of genetic data.Comment: Draft for comment

Learning Character Strings via Mastermind Queries, with a Case Study Involving mtDNA

We study the degree to which a character string, $Q$, leaks details about itself any time it engages in comparison protocols with a strings provided by a querier, Bob, even if those protocols are cryptographically guaranteed to produce no additional information other than the scores that assess the degree to which $Q$ matches strings offered by Bob. We show that such scenarios allow Bob to play variants of the game of Mastermind with $Q$ so as to learn the complete identity of $Q$. We show that there are a number of efficient implementations for Bob to employ in these Mastermind attacks, depending on knowledge he has about the structure of $Q$, which show how quickly he can determine $Q$. Indeed, we show that Bob can discover $Q$ using a number of rounds of test comparisons that is much smaller than the length of $Q$, under reasonable assumptions regarding the types of scores that are returned by the cryptographic protocols and whether he can use knowledge about the distribution that $Q$ comes from. We also provide the results of a case study we performed on a database of mitochondrial DNA, showing the vulnerability of existing real-world DNA data to the Mastermind attack.Comment: Full version of related paper appearing in IEEE Symposium on Security and Privacy 2009, "The Mastermind Attack on Genomic Data." This version corrects the proofs of what are now Theorems 2 and 4