Patient and professional constructions of familial hypercholesterolaemia and heart disease : testing the limits of the geneticisation thesis

This thesis provides an empirical investigation of the geneticisation thesis. Geneticisation is one of the most prominent critiques of the social and cultural implications of developments in genetics. It incorporates a set of claims and expectations about the way genetic knowledge and technologies are transforming or will transform ideas about health and illness, and health care practices. This research aims to explore the empirical basis of these claims, by looking at the place of genetic discourses and practices in one specific area. The thesis focuses on familial hypercholesterolaemia (FH), a treatable hereditary cholesterol condition associated with high rates of coronary heart disease (CHD). It asks how much and in what ways patients with FH and professionals involved with the condition construct FH and CHD as genetic conditions. The thesis draws on three main areas of data - biomedical literature concerning CHD and FH; ethnographic work concerning the activities of HEART UK, the main UK health charity involved with inherited lipid disorders and cholesterol; and interviews with patients with FH and with staff and members of HEART UK. The analysis suggests that FH is not understood or managed within a strong genetic frame, and that neither professionals involved in HEART UK, nor patients with FH, provided or contributed to radically new or geneticised accounts of CHD. In short, the research suggests that geneticisation overstates the transformatory potential of genetics, and that factors such as the availability of effective therapeutics, the sites where care takes place, the disciplines involved, and existing lay and professional models of disease are important for the construction of a particular field. Furthermore, in arguing that FH is not associated with a strong specific disease identity or community, the analysis questions the notion of biosociality, suggesting that is may be less relevant to some biological states or conditions than to others.EThOS - Electronic Theses Online ServiceGBUnited Kingdo