(Reproduced from the application) The goal of this conference is to stimulate a multi-disciplinary understanding of the psychosocial and medical challenge of inheriting a genetic condition using Alpha -Antitrypsin (AAT) Deficiency as a paradigm for other heritable1 conditions. An important immediate goal of the conference is to inform a multidisciplinary gathering of basic scientists and clinical scientists of the far-reaching effects and potential applications of genetic knowledge, and to provide a context for further development and implementation of scientific information within society. The conference will also create greater understanding among social scientists and public policymakers of the direction research is heading in this field, and investigate where ethical issues may hinder further development of scientific knowledge. The formal scientific presentations and informal discussions during the conference will address basic clinical issues related specifically to AAT deficiency, and by extension other genetic disease conditions, that impact on identification and treatment. An important focus will be the clinical variability characteristic of many single gene genetic disorders. This can be caused by different mutations in the disease gene, or by the influence of genetic modifiers. The extent of phenotypic variability and its causes need to be identified in order to establish appropriate testing, counseling, preventive measures, and therapeutic protocols. Social and ethical issues are also dependent upon a full understanding of the disease phenotype. The social science sessions will therefore focus on how rapidly expanding know knowledge in genetics research will affect public health issues such as the risks and benefits of testing, counseling, resource allocation and discrimination issues.
