An examination of the aesthetic qualities of medical science : simplicity, elegance and the one gene-one disease assumption

This thesis is an examination of how the ideal of scientific unity and consilience, paradigms in which all knowledge (scientific and beyond) is interconnected and relatable, manifests itself within the field of genetics. The primarily philosophical tool by which such unity is achieved is reductionism, and this research explores a very particular form of reductionism applied to genetics: the one gene – one disease (OGOD) assumption. The OGOD assumption links complex human diseases and behaviours to their perceived ultimate, knowable cause – a gene. While the inherent reductionism involved in such an assumption as it is applied to human behaviour has been well discussed (and criticised) by others, this research examines the OGOD assumption in different contexts. The case studies described here detail the application of the OGOD assumption to physiological diseases rather than to the more complex phenotypes of human behaviour; in addition, the OGOD assumption is examined from the point of view of a scientific aesthetic. This blending of reductionist philosophy and aesthetics assists in the examination of the OGOD assumption in its primary domain – the media. The OGOD assumption is used to provide a simple, elegant focus that assists in communicating the relevant science to the public – assisting journalists in distilling complex scientific information into a ‘more digestible’ form, and helping scientists and their institutions in promoting (and in most cases commercialising) their discoveries, amongst other functions. Such discoveries, when communicated via the media, help to demonstrate the mastery of medical science in uncovering the ultimate causes of dreaded diseases, and provide some measure of hope that a cure will become available in the future (assuming, of course, that further research is funded). The case studies described in this research were selected from 1994 to allow for a reasonable timeframe to have elapsed to examine whether or not any apparent ‘cures’ promoted around the original discovery eventuated. The actual manifestation of the OGOD assumption is examined – in some cases it is a rigid straight line between a gene and a disease, but in many cases a slightly more flexible form is discernable, one that adapts to circumstances. The case studies detailed here describe how simple and elegant links were made in 1994 between specific genes and a variety of cancers, osteoporosis, a rare cholesterol metabolism disorder and obesity. While simple, elegant, readily communicable and accepted within the community, the ideal of unity and aesthetics that such links represented were ultimately not borne out, and the OGOD assumption would appear to be more of a rhetorical tool and an ideology rather than a valuable heuristic method that guides research.