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

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

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

Secure approximation of edit distance on genomic data

© 2017 The Author(s). Background: Edit distance is a well established metric to quantify how dissimilar two strings are by counting the minimum number of operations required to transform one string into the other. It is utilized in the domain of human genomic sequence similarity as it captures the requirements and leads to a better diagnosis of diseases. However, in addition to the computational complexity due to the large genomic sequence length, the privacy of these sequences are highly important. As these genomic sequences are unique and can identify an individual, these cannot be shared in a plaintext. Methods: In this paper, we propose two different approximation methods to securely compute the edit distance among genomic sequences. We use shingling, private set intersection methods, the banded alignment algorithm, and garbled circuits to implement these methods. We experimentally evaluate these methods and discuss both advantages and limitations. Results: Experimental results show that our first approximation method is fast and achieves similar accuracy compared to existing techniques. However, for longer genomic sequences, both the existing techniques and our proposed first method are unable to achieve a good accuracy. On the other hand, our second approximation method is able to achieve higher accuracy on such datasets. However, the second method is relatively slower than the first proposed method. Conclusion: The proposed algorithms are generally accurate, time-efficient and can be applied individually and jointly as they have complimentary properties (runtime vs. accuracy) on different types of datasets

Efficient Privacy-Preserving Variable-Length Substring Match for Genome Sequence

Finding a similar substring that commonly appears in query and database sequences is an essential task for genome data analysis. This study proposes a secure two-party variable-length string search protocol based on secret sharing. The unique feature of our protocol is that time, communication, and round complexities are not dependent on the database length N, after the query input. This property brings dramatic performance improvements in search time, since N is usually quite large in an actual genome database, and the same database is repeatedly used for many queries. Our concept hinges on a technique that efficiently applies the compressed full-text index (FOCS 2000) for a secret-sharing scheme. We conducted an experiment using a human genomic sequence with the length of 10 million as the database and a query with the length of 100 and found that the query response time of our protocol was at least three orders of magnitude faster than a well-designed baseline protocol under the realistic computation/network environment

Scather: programming with multi-party computation and MapReduce

We present a prototype of a distributed computational infrastructure, an associated high level programming language, and an underlying formal framework that allow multiple parties to leverage their own cloud-based computational resources (capable of supporting MapReduce [27] operations) in concert with multi-party computation (MPC) to execute statistical analysis algorithms that have privacy-preserving properties. Our architecture allows a data analyst unfamiliar with MPC to: (1) author an analysis algorithm that is agnostic with regard to data privacy policies, (2) to use an automated process to derive algorithm implementation variants that have different privacy and performance properties, and (3) to compile those implementation variants so that they can be deployed on an infrastructures that allows computations to take place locally within each participant’s MapReduce cluster as well as across all the participants’ clusters using an MPC protocol. We describe implementation details of the architecture, discuss and demonstrate how the formal framework enables the exploration of tradeoffs between the efficiency and privacy properties of an analysis algorithm, and present two example applications that illustrate how such an infrastructure can be utilized in practice.This work was supported in part by NSF Grants: #1430145, #1414119, #1347522, and #1012798