This project will investigate the nature of disability to articulate, for public policy, the purposes for which emerging testing capabilities ought ethically to be used. To analyze the nature of disability, the project participants--including experts from disability studies, medical geneticists, genetic counselors, philosophers, and others--will examine two distinctions that are not well addressed in the literature: the distinction between nondisease and disease traits, and the distinction between medical and social disabilities.
The investigators plan to develop an information base on how the public, particularly those at increased risk, comprehend the current information regarding inheritance of Alzheimer's Disease (AD) risk, understand the role of competing risk factors, and view such testing. In addition physician understanding and interest in genetic testing for AD will be studied. Specific aims also include comparison of respondent and physician expectations of the testing process. The investigators rely on survey methodology using previously tested lines of questioning.
This project addresses the ethical, legal, and social implications of Alzheimer's disease (AD) genetics from the critical perspective of a group at high risk for the disease: currently unaffected relatives in families with AD. The applicants--Mass General Hospital/Harvard Medical School and the University of Alabama--have been working together since 1990 as part of the NIMH Genetics Initiative to identify families with Alzheimer's disease for genetic linkage study.
Project Summary/Abstract - The Risk Evaluation and Education for Alzheimer's Disease (REVEAL) Study is an ongoing series of multi-site randomized controlled trials that provide empirical data to address ethical, social and translational issues in genetic susceptibility testing for common diseases. Such work has become increasingly important given the expansion of genome-wide association studies identifying genetic risk factors for common diseases and corresponding efforts to commercialize genetic testing using these markers.
Genes and other biological markers are rapidly being identified that can provide presymptomatic estimates of risk for the eventual development of late-onset diseases. There is widespread public interest in obtaining risk information, particularly as treatments are developed to slow or prevent the onset of degenerative diseases. Many of the recently discovered gene markers are not deterministic genes, but rather susceptibility genes that interact with other, as yet unidentified genes, and with factors such as age, gender, race, family history and environmental exposures.
The Risk Evaluation and Education for Alzheimer's Disease (REVEAL) Study is an ongoing, multi-site research project that is designed to evaluate the psychological and behavioral impact of genetic risk assessment with disclosure of APOE, a susceptibility polymorphism for Alzheimer's disease. In the first funding cycle of the REVEAL Study, we developed a novel risk assessment methodology and conducted a randomized clinical trial in which 162 first degree relatives of patients with AD received genetic risk assessment with or without APOE disclosure.
This research project proposes to determine who actually chooses to obtain susceptibility genotyping for Alzheimer's disease (AD) and what the consequences of that information would be. Subjects will be randomized to one of two arms of study. In the Control arm, risk will be estimated based upon family history. In the Intervention arm, risk will be estimated by family history and by genotyping APOE, a common susceptibility polymorphism.
The purpose of this project is to develop and test a CDROM on ethical aspects of genetic testing for practicing registered nurses and senior level professional nursing students. Comprised of modules on ethics, genetic testing, and case studies on breast cancer and Alzheimer disease, the CDROM will provide for individually paced, interactive learning. Content will be critiqued by members of professional nursing organizations who participate in genetic testing.
The rapid identification of genetic risk factors for common, complex diseases poses great opportunities and challenges for public health. Genetic information is increasingly being utilized as part of commercial efforts, including direct-to-consumer (DTC) genetic testing to provide risk information on common diseases to consumers. Very few empirical data have been gathered to understand the characteristics of DTC test consumers, the psychological, behavioral and health impact, and the ethical, legal and social issues associated with DTC services.
Genomic data, including findings incidental to the purpose for which a study is undertaken, can contain information of use and importance to research subjects related to their health, lifestyle, and reproductive choices. A growing consensus of expert groups is that at least some information from genomic studies should be available to participants. It seems clear that return of results from genomic studies should and will require the informed consent of research subjects.