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The Center is conducting five core research projects and three cross-cutting analytic projects that collectively address four key ELSI questions:
1) What are the implications of genetic information for individuals, families, or populations, including when this information is linked to membership in socially defined groups?
2) What challenges to informed consent are created in response to shifting estimations of risk and benefit in large-scale genomics?
3) What ELSI issues are posed by new technologies and data collection and storage capacities as investigators, subjects and institutions grapple with regulating the use of DNA samples, control of data, and their dissemination?
4) How can all of these concerns be addressed to ensure the most efficient and judicious translation of genomic research findings into clinical or public health practice?
The five core research projects are:
- Understanding the Genetic Registry Experience: Building on pilot work with people who considered participation in the Environmental Polymorphisms Registry (EPR): This longitudinal project is surveying and following over time, respondents from EPR and three other registries who have provided samples that are linked long-term to information about them, and respondents who have declined participation in such a registry.
- Perceptions of Ownership of Biological Samples: This study is interviewing investigators and administrators about their preferences, opinions, and policies regarding ownership of biological samples at four types of institutions: public and private universities, government-owned research facilities, and private industry.
- ELSI Issues in Expanded Newborn Screening: Using fragile X syndrome as a prototype for emerging issues in newborn screening, this project is studying: 1) the willingness of a diverse public to have their newborns screened for a condition for which there is no medical treatment; 2) the adequacy of an informed consent process in preparing families for the information they might receive; and 3) and the ways families adapt to information such as carrier status in their children and reproductive risk for themselves and their extended family.
- Knowledge and Attitudes about Pharmacogenetic Testing among Clinicians & Patients: This project is collecting data on why clinicians and patients request and/or accept pharmacogenetic testing to guide the dosing of a commonly prescribed oral anticoagulant, warfarin.
- An ELSI Case Study Analysis of Large NIH Genetic Research Studies: Using a case-study analysis of three NIH studies that represent early genomic scale-up, this project issystematically assessing concerns, challenges, and policy guidance related to: ownership and control of specimens and data, secondary and future use, disclosure of research results and incidental findings, and potential for stigmatization of populations.
For these five studies the Center draws on the perspectives of important stakeholders in large-scale genomic research to explore a set of questions regarding variability in outcomes of interest related to individual and institutional factors. Data collection methods combine qualitative and quantitative approaches and use similar questions across projects to enhance comparability. Resulting data sets share common analysis procedures that are coordinated by a data analysis team with expertise in quantitative, qualitative, and mixed methods. Findings from these studies will have direct implications for policy, research and clinical practice, and will be disseminated in academic and policy arenas.
Data from these five projects also provide a unique opportunity to carry out additional, innovative, cross-cutting analyses of Ethical, Legal, and Social aspects of genomic scale-up. Three analysis projects integrate data from the five CGS projects with other available data, utilizing conceptual and methodological approaches from their respective disciplines. These analyses will be initiated in Year 1 but since their execution depends in part upon data from the core projects, final analyses will not be completed until data collection on the five projects is finished.
- Examining the “E” in ELSI: This study assesses 1) the ‘state of the debate’ regarding the aims and methods proper to ethics research in ELSI within ELSI literature; 2) which aims and methods are best suited to ELSI ethics research; and 3) what investigators working on CGS empirical projects view as the proper aims and methods of such research.
- Legal Frameworks for Storage and Use of Genetic Samples and Information: This study uses case law, legal literature, and data from CGS projects as a set of interconnected discourses to develop a cultural model of biobank regulation, having as its starting point subjects’ views on issues of access, control, use, and ownership.
- Shifting Perceptions of the Benefit of Genetic Information: Using data from the CGS and other projects, this study examines how benefit is perceived by genetic research participants, and clinic patients, and parents offered novel genetic testing, and how these perceptions are shaped by the new conditions of creating and disclosing genetic information made possible by scale-up.
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