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.
As the scientific study of genetic variation between human groups gains momentum around the world, traditional questions of research ethics are being transformed in ways that challenge our conventional wisdom about the responsible conduct of research. Challenges associated with obtaining informed consent may be heightened because of difficulties explaining genetic concepts cross-culturally. In some cases, language barriers may diminish effective communication even when literal translation is not a problem.
This project will continue and expand the Prospective Huntington At Risk Observational Study (PHAROS). PHAROS is a collaborative effort involving 43 recruitment and evaluation centers in the US and Canada. Its goal is to recruit 1000 individuals who are at 50% risk to develop Huntington disease (HD). These are all individuals who have not undergone, nor do they plan to undergo genetic testing in which they will learn their test results.
The annual meeting of the American College of Medical Genetics (ACMG) brings together a large proportion of basic and clinical investigators of rare genetic diseases. The organizers propose a series of workshops to be held in conjunction with ACMG meetings to consider issues related to identifying needs and opportunities for collaborative research involving rare genetic diseases (RGDs) associated with birth defects, mental retardation and developmental disabilities, and would set the stage for clinical and translational research.
The proposal is a longitudinal study of potential neurobiological and neurobehavioral markers of disease onset and progression in pre-symptomatic individuals who have the CAG expansion in the HD gene. A total of 500 subjects will be enrolled. Study subjects will be 30 to 55 years old and have a parental history of Huntington's disease. The study will enroll 425 cases with >39 CAG repeats (affected), and 75 controls with . . . (supplement)
Researchers and bioethicists have developed guidelines to protect human subjects in clinical experiments involving genetic technologies. However, these rules were developed for investigations of therapeutic interventions and do not address the risks involved in the potential use of genetic technologies for enhancement purposes.
Research is currently underway that seeks to deepen our understanding of the role of genetic factors in substance dependence and response to treatment. In order for the potential benefits of emerging research to be realized, it is crucial to begin understanding how members of different racial/ethnic groups comprehend, interpret and respond to information about the role of genetics in addiction and treatment response, and in particular to reported racial differences in the frequency of alleles hypothesized to increase susceptibility to addiction or affect response to treatment.
The purpose of this study is to contribute empirical data and critical analysis relevant to patenting and licensing of DNA sequence patents, focusing on genomic diagnostics. Recent survey data suggest that patents have generally not impeded research, but note that problems may arise in the area of diagnostics. Technologies for sequencing, genotyping, and gene expression profiling have created new classes of genomic diagnostics that can simultaneously test thousands of genes for mutations and variations, or for expression level differences.
It is recognized that research on the human microbiome is important for its potential scientific and medical impact. The complexity of microbiome research, however, could change the way that genetics is studied and understood because it calls for a more complex, nuanced framework for defining and demonstrating causality. The understanding of the human microbiome could also disrupt traditional assumptions about definitions of species, self, disease and normality. It is also recognized that microbiome research can raise ethical, legal, and social issues.
This qualitative study is designed to examine the ethical conduct of clinical research, including the conduct of clinical trials, in rural healthcare settings. This study is of great significance since more than half of the clinical research, including pharmacogenomic studies, conducted in the U.S. takes place in physicians' offices, clinics, and hospitals.(1-8) It is no longer unusual to encounter rural physicians, nurses, research coordinators, and hospital administrators who are engaged, in various capacities, in the clinical research enterprise.