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

Personal Genomes in Practice:Exploring Citizen and Healthcare Professionals’ Perspectives on Personalized Genomic Medicine and Personal Health Data Spaces Using a Mixed-Methods Design

Ongoing health challenges, such as the increased global burden of chronic disease, are increasingly answered by calls for personalized approaches to healthcare. Genomic medicine, a vital component of these personalization strategies, is applied in risk assessment, prevention, prognostication, and therapeutic targeting. However, several practical, ethical, and technological challenges remain. Across Europe, Personal Health Data Space (PHDS) projects are under development aiming to establish patient-centered, interoperable data ecosystems balancing data access, control, and use for individual citizens to complement the research and commercial focus of the European Health Data Space provisions. The current study explores healthcare users’ and health care professionals’ perspectives on personalized genomic medicine and PHDS solutions, in casu the Personal Genetic Locker (PGL). A mixed-methods design was used, including surveys, interviews, and focus groups. Several meta-themes were generated from the data: (i) participants were interested in genomic information; (ii) participants valued data control, robust infrastructure, and sharing data with non-commercial stakeholders; (iii) autonomy was a central concern for all participants; (iv) institutional and interpersonal trust were highly significant for genomic medicine; and (v) participants encouraged the implementation of PHDSs since PHDSs were thought to promote the use of genomic data and enhance patients’ control over their data. To conclude, we formulated several facilitators to implement genomic medicine in healthcare based on the perspectives of a diverse set of stakeholders.</p

Attitudes towards genetic testing: The role of genetic literacy, motivated cognition, and socio-demographic characteristics

Understanding reasons for why people choose to have or not to have a genetic test is essen tial given the ever-increasing use of genetic technologies in everyday life. The present study explored the multiple drivers of people’s attitudes towards genetic testing. Using the Interna tional Genetic Literacy and Attitudes Survey (iGLAS), we collected data on: (1) willingness to undergo testing; (2) genetic literacy; (3) motivated cognition; and (4) demographic and cultural characteristics. The 37 variables were explored in the largest to-date sample of 4311 participants from diverse demographic and cultural backgrounds. The results showed that 82% of participants were willing to undergo genetic testing for improved treatment; and over 73%—for research. The 35 predictor variables together explained only a small propor tion of variance: 7%—in the willingness to test for Treatment; and 6%—for Research. The strongest predictors of willingness to undergo genetic testing were genetic knowledge and deterministic beliefs. Concerns about data misuse and about finding out unwanted health related information were weakly negatively associated with willingness to undergo genetic testing. We also found some differences in factors linked to attitudes towards genetic testing across the countries included in this study. Our study demonstrates that decision-making regarding genetic testing is influenced by a large number of potentially interacting factors. Further research into these factors may help consumers to make decisions regarding genetic testing that are right for their specific circumstances

Open sharing of genomic data: Who does it and why?

We explored the characteristics and motivations of people who, having obtained their genetic or genomic data from Direct-To-Consumer genetic testing (DTC-GT) companies, voluntarily decide to share them on the publicly accessible web platform openSNP. The study is the first attempt to describe open data sharing activities undertaken by individuals without institutional oversight. In the paper we provide a detailed overview of the distribution of the demographic characteristics and motivations of people engaged in genetic or genomic open data sharing. The geographical distribution of the respondents showed the USA as dominant. There was no significant gender divide, the age distribution was broad, educational background varied and respondents with and without children were equally represented. Health, even though prominent, was not the respondents' primary or only motivation to be tested. As to their motivations to openly share their data, 86.05% indicated wanting to learn about themselves as relevant, followed by contributing to the advancement of medical research (80.30%), improving the predictability of genetic testing (76.02%) and considering it fun to explore genotype and phenotype data (75.51%). Whereas most respondents were well aware of the privacy risks of their involvement in open genetic data sharing and considered the possibility of direct, personal repercussions troubling, they estimated the risk of this happening to be negligible. Our findings highlight the diversity of DTC-GT consumers who decide to openly share their data. Instead of focusing exclusively on health-related aspects of genetic testing and data sharing, our study emphasizes the importance of taking into account benefits and risks that stretch beyond the health spectrum. Our results thus lend further support to the call for a broader and multi-faceted conceptualization of genomic utility

Perceived Health Status, Health Values and Health Goals as Influences on Individual Pursuit of DTC Genome Testing: Implications for Healthcare of Ill & Healthy

This dissertation examines an individual’s perceived health status, and health values, as influences on self-initiated health action, specifically the pursuit of Direct-to-consumer (DTC) genome testing. Motivation for this independent health action may also have implications for other individual health behaviors, including the potential for positive changes that are lasting rather than temporary. Health Capability, the conceptual framework, supports individual health values and goals, ability to access valued healthcare services and includes measures of health status. However, Health Capability lacks an operationalized mapping of its major concepts. This dissertation proposes and evaluates an original concept mapping and relationships. An overview of this dissertation and components is presented in Chapter one. Chapter two addresses the genomics and healthcare landscape related to independent individual pursuit of Direct-to-consumer (DTC) genome testing. The Health Capability framework is initially presented in this chapter, together with the research hypotheses, targeted literature review of key concepts and the proposed concept mapping with relationships. Chapter three describes the Health Capability conceptual framework, its adaptation and extension for the dissertation and its potential for use in health promotion and prevention research. A systematic review of the literature on perceived health status is discussed in chapter four, as well as a targeted review of approaches to concept measurement and most commonly used instruments. Chapter Five presents the dissertation study. This research involves 1455 self-initiated Direct-to-consumer (DTC) genome testing users who represent a naturally occurring phenomenon and provide a unique population to study the impact of an individual’s subjective perceived health status, personal health values and health goals. Participants completed surveys as part of the Impact of Personal Genomics (PGen) study. These participants were classified into four mutually exclusive health status groups based on individual perception of health and a healthcare system perspective of health status (existence of a medical diagnosis). These groups were analyzed for the following: 1) discrepancies in health status, 2) differences in reasons for genome testing, perceived risk and health values, and 3) potential relationships among variables. Results confirmed discrepancies between individual and biomedical health status. One group may represent the “worried well”. Interest in health information was high (98–99%) across all groups, as was health value of genome test results. Two items distinguished all groups (interest in pharmacogenomics information and learning risk for other diseases (p \u3c .001). When groups differed, perceived rather than biomedical health status was often involved, yet both factors demonstrated influences (variable dependent). Risk perception was moderately correlated (.301) with health status group, yet clearly does not equate with perceived health. Persons with medical diagnoses and self-rated not good health scored highest for items relating to immediate personal health and for family. Study findings are consistent with individual perceived health status and health values as significant factors influencing self-initiated health action (DTC genome testing). Chapter six further interprets research results as they relate to the hypotheses and to future research plans. Implications of the study results for revision and extension of the Health Capability concept mapping and framework are also discussed. These include: 1) supporting health status and values as principle concepts; 2) supporting addition of a measure of individual (subjective) perceived health status; 3) representing resources outside the healthcare system; and, 4) exploring the possibility of a personal need or value, as a “trigger” to action. These are areas of planned further research relevant to personalized healthcare, effective clinical practice, a collaborative healthcare model and meaningful policy development

Ethical and legal implications of whole genome and whole exome sequencing in African populations

BACKGROUND: Rapid advances in high throughput genomic technologies and next generation sequencing are making medical genomic research more readily accessible and affordable, including the sequencing of patient and control whole genomes and exomes in order to elucidate genetic factors underlying disease. Over the next five years, the Human Heredity and Health in Africa (H3Africa) Initiative, funded by the Wellcome Trust (United Kingdom) and the National Institutes of Health (United States of America), will contribute greatly towards sequencing of numerous African samples for biomedical research. DISCUSSION: Funding agencies and journals often require submission of genomic data from research participants to databases that allow open or controlled data access for all investigators. Access to such genotype-phenotype and pedigree data, however, needs careful control in order to prevent identification of individuals or families. This is particularly the case in Africa, where many researchers and their patients are inexperienced in the ethical issues accompanying whole genome and exome research; and where an historical unidirectional flow of samples and data out of Africa has created a sense of exploitation and distrust. In the current study, we analysed the implications of the anticipated surge of next generation sequencing data in Africa and the subsequent data sharing concepts on the protection of privacy of research subjects. We performed a retrospective analysis of the informed consent process for the continent and the rest-of-the-world and examined relevant legislation, both current and proposed. We investigated the following issues: (i) informed consent, including guidelines for performing culturally-sensitive next generation sequencing research in Africa and availability of suitable informed consent documents; (ii) data security and subject privacy whilst practicing data sharing; (iii) conveying the implications of such concepts to research participants in resource limited settings. SUMMARY: We conclude that, in order to meet the unique requirements of performing next generation sequencing-related research in African populations, novel approaches to the informed consent process are required. This will help to avoid infringement of privacy of individual subjects as well as to ensure that informed consent adheres to acceptable data protection levels with regard to use and transfer of such information