TY - JOUR

T1 - Rebirthing the clinic : the interaction of clinical judgement and genetic technology in the production of medical science.

AU - Latimer, Joanna

AU - Featherstone, Katie

AU - Atkinson, Paul

AU - Clarke, Angus

AU - Pilz, Daniela T.

AU - Shaw, Alison

PY - 2006/9

Y1 - 2006/9

N2 - 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.

AB - 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.

KW - dysmorphology • genetic science • molecular technology • clinical classification • medical knowledge

U2 - 10.1177/0162243906289613

DO - 10.1177/0162243906289613

M3 - Journal article

VL - 31

SP - 599

EP - 630

JO - Science, Technology, and Human Values

JF - Science, Technology, and Human Values

SN - 0162-2439

IS - 5

ER -