Public health genetics challenges: Scientific and social.

摘要

Public health genetics is a rapidly evolving field of study and practice that encompasses both population-based genetic research and the implementation of that research in the form of health care advances and their surrounding social implications. This dissertation focuses on fundamental scientific and social challenges facing the advancement of this field. First, it addresses the importance of examining the wide ranging outcomes of single gene polymorphisms on common chronic disease that arise through pleiotropic and context-dependent effects that are typically overlooked in the traditional research paradigm (Project 1). Second, it illustrates how studying many genes concurrently adds an additional level of complexity to our understanding of the genetic architecture of common diseases when also taking into account the wide range of single-gene effects. This dissertation also puts forth a new paradigm for incorporating tests of replicability into the current methodologies used to study both single genes and multiple gene effects to significantly improve the internal validity of these investigations and increase our overall confidence in identified disease predictors (Project 2). Finally, in order to actualize the public health benefits of new genetic knowledge, the public health genetics community will need equally progressive educational tools to inform the public of new genetic advancements that arise from the sequencing of the human genome. By investigating the public's understanding of genetics and the organization underlying the public's conceptualization of genetics (Project 3), this dissertation provides a more comprehensive appreciation of the public's limited genetic understanding and how it differs among race and gender population subgroups.