By the same authors

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From the same journal

Rebirthing the clinic: The interaction of clinical judgment and genetic technology in the production of medical science

Research output: Contribution to journalArticle

Published copy (DOI)

Author(s)

  • Joanna Latimer
  • Katie Featherstone
  • Paul Atkinson
  • Angus Clarke
  • Daniela T. Pilz
  • Alison Shaw

Department/unit(s)

Publication details

JournalScience, Technology and Human Values
DatePublished - Sep 2006
Issue number5
Volume31
Number of pages32
Pages (from-to)599-630
Original languageEnglish

Abstract

The article reconsiders the nature and location of science in the development of genetic classification. Drawing on field studies of medical genetics, we explore how patient categorization is accomplished in between the clinic and laboratory. We focus on dysmorphology, a specialism concerned with complex syndromes that impair physical development. We show that dys-morphology is about more than fitting patients into prefixed diagnostic categories and that diagnostic process is marked by moments of uncertainty, ambiguity, and deferral. We describe how different forms of evidence are brought into play and how patterns of physical features are identified as genetic or not. We suggest that clinical categorical work helps articulate the genetic as an emergent domain of medical classification and that moments of ambiguity and deferral create an imperative space that helps legitimate the need for more technoscience, and consequently, more clinical judgment with which to fix the genetic future.

    Research areas

  • Clinical classification, Dysmorphology, Genetic science, Medical knowledge, Molecular technology

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