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

Privacy-Preserving Genetic Relatedness Test

An increasing number of individuals are turning to Direct-To-Consumer (DTC) genetic testing to learn about their predisposition to diseases, traits, and/or ancestry. DTC companies like 23andme and Ancestry.com have started to offer popular and affordable ancestry and genealogy tests, with services allowing users to find unknown relatives and long-distant cousins. Naturally, access and possible dissemination of genetic data prompts serious privacy concerns, thus motivating the need to design efficient primitives supporting private genetic tests. In this paper, we present an effective protocol for privacy-preserving genetic relatedness test (PPGRT), enabling a cloud server to run relatedness tests on input an encrypted genetic database and a test facility's encrypted genetic sample. We reduce the test to a data matching problem and perform it, privately, using searchable encryption. Finally, a performance evaluation of hamming distance based PP-GRT attests to the practicality of our proposals.Comment: A preliminary version of this paper appears in the Proceedings of the 3rd International Workshop on Genome Privacy and Security (GenoPri'16

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

SIG-DB: leveraging homomorphic encryption to Securely Interrogate privately held Genomic DataBases

Genomic data are becoming increasingly valuable as we develop methods to utilize the information at scale and gain a greater understanding of how genetic information relates to biological function. Advances in synthetic biology and the decreased cost of sequencing are increasing the amount of privately held genomic data. As the quantity and value of private genomic data grows, so does the incentive to acquire and protect such data, which creates a need to store and process these data securely. We present an algorithm for the Secure Interrogation of Genomic DataBases (SIG-DB). The SIG-DB algorithm enables databases of genomic sequences to be searched with an encrypted query sequence without revealing the query sequence to the Database Owner or any of the database sequences to the Querier. SIG-DB is the first application of its kind to take advantage of locality-sensitive hashing and homomorphic encryption to allow generalized sequence-to-sequence comparisons of genomic data.Comment: 38 pages, 3 figures, 4 tables, 1 supplemental table, 7 supplemental figure

Homomorphic Encryption for Machine Learning in Medicine and Bioinformatics

Machine learning techniques are an excellent tool for the medical community to analyzing large amounts of medical and genomic data. On the other hand, ethical concerns and privacy regulations prevent the free sharing of this data. Encryption methods such as fully homomorphic encryption (FHE) provide a method evaluate over encrypted data. Using FHE, machine learning models such as deep learning, decision trees, and naive Bayes have been implemented for private prediction using medical data. FHE has also been shown to enable secure genomic algorithms, such as paternity testing, and secure application of genome-wide association studies. This survey provides an overview of fully homomorphic encryption and its applications in medicine and bioinformatics. The high-level concepts behind FHE and its history are introduced. Details on current open-source implementations are provided, as is the state of FHE for privacy-preserving techniques in machine learning and bioinformatics and future growth opportunities for FHE

Sociotechnical Safeguards for Genomic Data Privacy

Recent developments in a variety of sectors, including health care, research and the direct-to-consumer industry, have led to a dramatic increase in the amount of genomic data that are collected, used and shared. This state of affairs raises new and challenging concerns for personal privacy, both legally and technically. This Review appraises existing and emerging threats to genomic data privacy and discusses how well current legal frameworks and technical safeguards mitigate these concerns. It concludes with a discussion of remaining and emerging challenges and illustrates possible solutions that can balance protecting privacy and realizing the benefits that result from the sharing of genetic information