| Abstract: | The diagnosis of rare genetic disorders involves classifying patients on the basis of clinical understandings of the relationship between visible, measurable characteristics (the phenotype) and an underlying genetic characterization (the genotype). Diagnosis is performed through the routine ritual observation and interpretation of images of patients in relation to their clinical features and test results. In this process, which is mediated by senior clinicians, the experience of the effect of a patient's image is integral to the skilful elicitation of a diagnosis. Such skill develops over time, through regular participation in diagnostic performances. I suggest that, from this perspective, genetic diagnosis is a clinical process rather than a form of genetic reductionism and that assumptions about 'geneticization' require further exploration. The article also shows that participant observation and a cross-cultural mode of analysis can contribute to documenting and interpreting these processes. |
