Book Review

摘要

This is an insightful reconstruction of the history of medical genetics, where chromosomes as concepts and images retained their own conceptual and explanatory powers throughout the second half of the twentieth century. The book is composed of a set of episodes, each of them dealing with a genetic disorder whose diagnosis included techniques, instruments and ways of looking at the genome. It moves from the immediate post-war idealised, schematic images and rough microphotographs of chromosomes via DNA fluorescence hybridisation (FISH) to the subsequent molecular ‘gaze’. Naming styles and classifications suggesting an objectivity that molecules, or pieces of them, were expected to provide, participated in a long history of laboratory techniques and the clinical concepts associated with them. Andrew Hogan keeps a careful eye on the clinical and anatomical meaning of the successive concepts. Pieces of the genome are recognised in his narrative as the molecular side of a set of malformation patterns associated with muscular weakness, obesity, small genitals and intellectual development disorders, which are involved in the definition and diagnosis of Prader–Willi syndrome, one of the disorders whose history is scrutinised. The history he recounts is that of a transnational set of disorders, an increasingly promising clinical space built upon a technologised practice of looking at malformations and disorders, the designs and methods of which took part in the emergence of the genetic platform – to use the term that Keating and Cambrosio have coined for this complex set of practices. Inspired by the views, texts and statements of the well-known United States geneticist Victor McKusick, Hogan follows both the clinic and the cytogenetics laboratory and later the molecular genetics laboratory by introducing patients’ perceptions. And even with such a constellation of agencies and frameworks, the reconstruction works perfectly well. From anatomical traits and scientific inquiry to clinical purposes, the routes taken led to an issue that comes back again and again: the fact that treatment and prevention turned out to be unlikely participants in a story centred on the diagnostic powers of twentieth-century medical genetics.