Diagnosis, dysmorphology, and the family: Knowledge, motility, choice

Joanna Latimer*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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,2 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.

Original languageEnglish
Pages (from-to)97-138
Number of pages42
JournalMedical Anthropology
Issue number2
Publication statusPublished - Apr 2007


  • Genetic counseling
  • Informed choice
  • Knowledge
  • Motility
  • Reproduction
  • The clinic

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