(Re)constructing genetic disease: The clinical continuum between cystic fibrosis and male infertility

In this paper I explore the construction of a clinical continuum between a genetic disease, cystic fibrosis (CF), and male infertility. I provide a brief outline of the history of cystic fibrosis and its association with male infertility, before examining the contention that a growing number of cases of male infertility are a form of CF. I explore various processes involved in the construction of the clinical continuum between CF and male infertility: first, the identification of genetic mutations for male infertility, which includes the creation of unidentified mutations and the redefinition of polymorphisms or variations in the genetic code as mutations; second. the establishment of a common principal defect for the two entities; third, the identification of other symptoms and positive tests for CF in infertile males; and. fourth. the mutual development of genetic research into CF and infertility and the genetic surveillance of infertile couples. Throughout I highlight the treatment of uncertainties and reductionism in these processes, particularly in practitioners' characterization of mutations. explanations of the basic defect, identification of other symptoms and treatment of test results. I also examine the various ways in which research and clinical practices inter-relate. I end by considering the implications of this case study for the social analysis of genetics more generally.