title: Diagnosis, dysmorphology, and the family: knowledge, motility, choice.
abstract: This article examines the specific ways in which the gene, the clinic, and the family interact in clinical consultations over children with suspected congenital problems. It draws upon an ethnography of dysmorphology, a specialty in genetic medicine that involves the study of abnormal human forms and the description of complex syndromes. Dysmorphologists describe what they do as "genetic counselling," a twin process of differential diagnosis and the calculation of risk of recurrence in other pregnancies. Policy treats genetic counselling as a positive knowledge practice that provides parents with information about "what is" in order that they can make informed, yet autonomous, decisions. Specifically, it is portrayed as non-interventionist. In dysmorphology the categorization of the genetic emerges as a field of uncertainty and "a new frontier." Parents are not simply informed about "what is"; rather, the clinic engages them in the epistemological work of objectification. This work defines the abnormal alongside the clinician's performance of deferral. Participation in this motility of clinical work moves parents between definition and deferral to excite consciousness of the riskiness of reproduction, to elicit moments of reflexivity, and to accomplish shifts in perspective.
authors.affiliation: Cardiff University School of Social Science, Cardiff, UK. latimerje@cardif.ac.uk
authors.forename: Joanna
authors.initials: J
authors.lastname: Latimer
mesh_terms: D000328:Adult; D002675:Child, Preschool; D005190:Family; D005260:Female; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D008297:Male; D010290:Parents / Q000523:psychology*; D010817:Physician-Patient Relations