This project is a 4-day international symposium for families with and professionals interested in the 22q11.2 deletion syndrome. The conference will be held from June 22-25, 2000 at the Penn Towers Hotel and The Children's Hospital of Philadelphia. The first such conference was held in Strasbourg, France in September 1998 and was attended by more than 100 professionals and parents representing 18 countries.
The increasing availability of genetic information on individuals raises a series of critical questions concerning privacy and confidentiality that have not been fully explored. The rise of computers, the Internet, and managed care all threaten the privacy of individuals' health information; and the sequencing of the human genome makes these issues particularly acute. Sharing genetic information may lead to stigma, discrimination, and threats to jobs and life and health insurance.
The goal of the proposed research training program is to strengthen the capacity of Venezuelan scientists based at the University of Zulia to study genetics of common hereditable disorders relevant to Latin America and the Caribbean, and in particular to Venezuela.
With the recent 'completion' of the human genome sequence, geneticists have turned their attention to a detailed consideration of variation, both as it occurs in the genome and as it relates to the etiology of common complex traits. The main objective of the research training proposed here is to place the uses and understandings of human variation in a multidisciplinary perspective, both to identify the processes by which scientific understanding is negotiated and constructed, and to consider the ways in which scientific choices determine ethical outcomes.
The goal of this revised proposal is to illuminate the relationships between genetic researchers and racial/ethnic groups. Specifically, it seeks to understand how and why investigators link genetic diseases to named populations; how community organizations respond to genetic research and disease linkages; and to stimulate a dialogue between genetic researchers and community organizations on social risk, community consultation and informed consent.
The relevance of racial and ethnic identities for biomedical research and patient care increasingly is at issue, particularly in the emerging contexts of post-genomic research and genetic medicine. The relationship between biological relatedness and social construction of identity is not a direct one. Mistaken uses of social identity as a proxy for biological relatedness can harm entire categories of people by implying that they are biologically different from others.
The impetus for this proposal began with the decisions to include a Southern European population sample in the new Haplotype Map Project (HapMap Project) and to undertake this research among identified populations through a process referred to unofficially as 'community engagement.' Together, these two tracks led more specifically to the P.I., an American medical anthropologist who had lived and conducted research for many years in Florence, Italy.
The disability rights critique of prenatal testing asserts that genetic decision-making occurs in a context of misinformation and devaluation regarding the lives of people with genetic and/or prenatal diagnoses and that health professional attitudes reinforce this bias. This is a three-year project designed to explore the areas in which medical genetic advising is, or is not, informed by the lived experience of persons with genetic and/or prenatally diagnosable disabilities.