Abstract

This dissertation pursues two projects. First, it critically examines the concept of genetic disease. Genetic explanations of disease are both intellectually successful and morally contentious in modern medicine. I argue that both features are consequences of the way the concept of genetic disease structures explanations. Second, the dissertation tests a range of theories of scientific progress for their applicability to medical science. I argue that theories that show how interdisciplinary interaction drives the growth of knowledge will be the most helpful in articulating a vision of medical progress. ;These two arguments are closely intertwined in the dissertation. Analyzing the concept will provide a cogent way to test theories of progress against history. Testing and applying theories of progress will, in turn, help uncover the sources of the concept's epistemic power and moral tension. Thus, after Chapter Two shows how the concept integrates assumptions about diseases and the hierarchical nature of the biological domain, Chapter Three uses that analysis to guide the description of the explanation of sickle cell disease. This provides a case study of progress, focused on the way the genetic disease concept is used in clinical problem-solving. ;In Chapter Four, I apply six contemporary explanations of scientific progress to the case of sickle cell disease. I argue that the explanations that focus on the dynamics of interdisciplinary interaction most closely reconstruct the development of the case and provide the best reasons for its success. Thus I endorse that approach to a theory of medical progress. ;In Chapter Five, I generalize from this case, to draw conclusions about the concept of genetic disease. I argue that the explanatory strategy governing the concept's use employs both the 'ontological' and 'physiological' models of disease to raise interlevel research questions that drive the explanation through a series of domain levels. The resulting explanation integrates interpretations from molecular to populational levels. The concept's explanatory power comes from the way this strategy improves conceptual relations between different scientific traditions. However, because of the way the strategy incorporates therapeutic goals, it is also a source of the moral tension that genopathic explanations display