Psychiatric genetic research (PGR) holds great promise for preventing, understanding, and treating neuropsychiatric disorders - a source of immense societal burden and personal suffering. Such research poses many ethical challenges, and failure to perform systematic study of the ethical issues surrounding PGR may threaten societal acceptance of this important scientific work. To date, NIH has not funded any work on PGR that focuses on collecting empirical data about ethical issues.
Background: There is a growing awareness of family history as a risk factor for disease and the availability of genetic testing for inherited cancers continues to increase. However, effective, efficient resources for educating individuals about inherited cancer risk are lacking, especially in geographic areas that are underserved by genetics services. In particular, there is a dearth of educational resources for Hispanics on cancer genetics that are both culturally relevant and available in Spanish.
The ELSI program of the Human Genome Project has successfully calmed the fears of most constituents regarding the potential for a "eugenic" misuse of modern genetic technology. However, one constituency still has major fears regarding the HGP and eugenics. This is the disability rights (DR) community. DR critiques of the HGP are based on a distinct concept of disability from that of mainstream medicine including most supporters of the HGP.
Testing for mutations in the BRCA1 and BRCA2 breast-ovarian cancer susceptibility genes has been performed in over 70,000 individuals. Like other sequence-based tests, the results can reveal a normal sequence, a clearly deleterious mutation or a sequence variant of uncertain significance (VUS), in which it is not known whether the VUS confers an increased cancer risk. VUS results are confusing and occur in approximately 12% of tests. Their adequate interpretation requires a basic understanding of genetic principles, the laboratory methods utilized and pedigree analysis.
This is a competing renewal to continue our investigations of the use of molecular cytogenetic testing by array copy number analysis in prenatal diagnostic testing. We have completed a prospective blinded comparison of copy number analysis (aCNA) with standard conventional karyotyping in 4400 unselected prenatal diagnostic tests. Our work demonstrates that aCNA identifies all pathologic findings seen by karyotyping and provides significant incremental information in 2% of all patients tested.
Despite significant efforts, African Americans continue to experience excess rates of morbidity and mortality from all forms of cancer relative to individuals from other ethnic and racial groups. Research is now being conducted to the molecular basis of cancer through genetic-based studies and to translate this information into strategies for cancer detection, prevention, and treatment. African American reluctance to participate in cancer genetics research will significantly limit efforts to apply these approaches to address racial disparities in cancer outcomes.
Two major issues have garnered significant attention leading to the development of a range of policies regarding data disclosure and data-sharing in biomedical research. While the disclosure of data is relevant to all types of biomedical research, it has garnered particular attention with respect to genetics and genomics research due to some of the unique aspects of the data and the high public profile of the field.
The long-term objective of this Pathway to Independence Award (K99/ROO) is to train to become an independent researcher in bioethics with a strong interdisciplinary foundation in genetics and epidemiology. My research plan is to characterize ethical and social issues in genetic studies of complex traits and evaluate how and whether they differ from those in genetic studies of Mendelian traits. This research will enable current and future complex disease researchers and policy makers to understand and address these issues proactively.
Advances stemming from the Human Genome Project have prompted concerns about the general public's readiness to utilize this information to make informed health decisions. As a strategy to increase genetic literacy among the general public, tools are now available to enable individuals to record their family health history. However, little is known about whether the public is able to access the tools, understand how to use them, and apply the information by taking health protective actions, which can compromise the potential effectiveness of the tools.
This exploratory pilot project aims to evaluate the feasibility and initial efficacy of an innovative family-centered approach to genetic counseling that combines patient- centered principles and mental health techniques to address the cognitive and emotional needs of parents whose infants have abnormal DNA analyses from newborn screens (NBS) for cystic fibrosis (CF).