Protecting and Evaluating Genomic Privacy in Medical Tests and Personalized Medicine

In this paper, we propose privacy-enhancing technologies for medical tests and personalized medicine methods that use patients' genomic data. Focusing on genetic disease-susceptibility tests, we develop a new architecture (between the patient and the medical unit) and propose a "privacy-preserving disease susceptibility test" (PDS) by using homomorphic encryption and proxy re-encryption. Assuming the whole genome sequencing to be done by a certified institution, we propose to store patients' genomic data encrypted by their public keys at a "storage and processing unit" (SPU). Our proposed solution lets the medical unit retrieve the encrypted genomic data from the SPU and process it for medical tests and personalized medicine methods, while preserving the privacy of patients' genomic data. We also quantify the genomic privacy of a patient (from the medical unit's point of view) and show how a patient's genomic privacy decreases with the genetic tests he undergoes due to (i) the nature of the genetic test, and (ii) the characteristics of the genomic data. Furthermore, we show how basic policies and obfuscation methods help to keep the genomic privacy of a patient at a high level. We also implement and show, via a complexity analysis, the practicality of PDS

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

Patient-Tailored Medicine, Part Two: Personalized Medicine and the Legal Landscape

In Part One, the authors addressed the relevance of genetic information, and how race and genetics have affected and may impact the development of medicines, pharmacogenomics, and personalized medicine in the United States.* Part Two examines current and proposed federal and state laws and regulations intended to protect individuals from the misuse of genetic information, including uses that discriminate based on genetic predispositions. This Part next explores the potential for litigation against both manufacturers and providers, as well as potential defenses. The authors also discuss legal issues relating to research that relies on the use of genetic information

Patient-Tailored Medicine, Part One: The Impact of Race and Genetics on Medicine

One of the more controversial elements of advancing technology is the use of race and genetics to help create more specific types of medicines that will help combat diseases and conditions that appear to be more prevalent within certain races or ethnic groups than in others. Considering the history of discrimination and inadequate treatment of individuals on the bases of race and gender in the United States, there is justifiable concern that race or gender-based treatment could be used to legitimate discrimination. On the other hand, there is substantial proof that the current method of creating medicines for the general public is problematic and could prevent effective treatments from reaching the marketplace. Part One of this series addresses the relevance of genetic information, and how race and genetics have affected and may impact the development of medicines, pharmacogenomics, and personalized medicine in the United States. Part Two, which will appear in the next issue of the Journal of Health and Life Sciences Law, will focus on how personalized medicine may affect the American legal, regulatory, and legislative environment

Patient-Tailored Medicine, Part One: The Impact of Race and Genetics on Medicine

One of the more controversial elements of advancing technology is the use of race and genetics to help create more specific types of medicines that will help combat diseases and conditions that appear to be more prevalent within certain races or ethnic groups than in others. Considering the history of discrimination and inadequate treatment of individuals on the bases of race and gender in the United States, there is justifiable concern that race or gender-based treatment could be used to legitimate discrimination. On the other hand, there is substantial proof that the current method of creating medicines for the general public is problematic and could prevent effective treatments from reaching the marketplace. Part One of this series addresses the relevance of genetic information, and how race and genetics have affected and may impact the development of medicines, pharmacogenomics, and personalized medicine in the United States. Part Two, which will appear in the next issue of the Journal of Health and Life Sciences Law, will focus on how personalized medicine may affect the American legal, regulatory, and legislative environment

Patient-Tailored Medicine, Part One: The Impact of Race and Genetics on Medicine

One of the more controversial elements of advancing technology is the use of race and genetics to help create more specific types of medicines that will help combat diseases and conditions that appear to be more prevalent within certain races or ethnic groups than in others. Considering the history of discrimination and inadequate treatment of individuals on the bases of race and gender in the United States, there is justifiable concern that race or gender-based treatment could be used to legitimate discrimination. On the other hand, there is substantial proof that the current method of creating medicines for the general public is problematic and could prevent effective treatments from reaching the marketplace. Part One of this series addresses the relevance of genetic information, and how race and genetics have affected and may impact the development of medicines, pharmacogenomics, and personalized medicine in the United States. Part Two, which will appear in the next issue of the Journal of Health and Life Sciences Law, will focus on how personalized medicine may affect the American legal, regulatory, and legislative environment