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The gene, the clinic & the family: Diagnosing dysmorphology, reviving medical dominance

Latimer, Joanna Elizabeth 2013. The gene, the clinic & the family: Diagnosing dysmorphology, reviving medical dominance. Genetics and Society, London: Routledge.

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Abstract

This book is rather like the clinic, a space of crossing and translation, between medical sociology and science studies, both anthropological and sociological. Thus the book draws attention to and helps deconstruct the dichotomy between the laboratory and the clinic, and between science and medicine. The book draws on 25 years as a medical sociologist, researching acute medicine, primary care, accident and emergency, intensive care, paediatric genetics, geriatric medicine and biomedical science. My ‘ethnographic’ immersion in medicine and health care practice, however, began earlier by working for ten years in the British National Health Service, as a cleaner and nursing auxiliary in a geriatric hospital before I trained and practiced as a nurse and ward sister in both acute and primary care settings. While my close reading of the discourses of science and medicine owes much to my original training in English at the University of London, I have tried never to lose my grounding in everyday practice, my experiences with patients and that eye for detail that served me so well in those early days. The core research material comes from a longitudinal study of an evolving discursive practice in medical genetics known as dysmorphology. This is the study of abnormal forms, historically called congenital abnormalities. Thus the analysis of the book locates itself in those effects in persons identified as "existing from birth" and as relating to genitus, or "begetting". As it happens, dysmorphology’s roots are in paediatrics and the objects and subjects of clinical practice are mainly children and their families. Indeed many clinical geneticists I met were trained in paediatrics and the underpinning discourses in the clinic are the science of growth and form in humans, such as embryology, and conceptions of child development. Critically, dysmorphology is concerned with the description and recognition of ‘syndromes’. At the time of the study there were over 3,000 syndromes recorded in databases, and many of these descriptions were still in the making. So the book is to some extent about shape and form in contemporary medicine; and, further, how deviations from normal human development are being identified and named. ‘Dysmorph’ literally means misshapen, and is concerned with begetting when the coming together of processes of reproduction go wrong and do so in ways that produce abnormal forms. It should be noted that these syndromes typically involve very small numbers of people, and come under the new rubric rare disorders. Consequently, the availability of molecular and cytogenic tests was limited. The field of dysmorphology is also emerging at a time, the first decade of the new millenium, when biological understandings of the genetic and the congenital are changing and shifting. Hence dysmorphology is also busy relocating in relation to those understandings. Like biology, and no doubt because of its direct links to the biology of human development (specifically growth and form), dysmorphology is becoming more and more engrossed in the correlations between the genetic and deviations in growth and form. In so doing, dysmorphologists claim to be helping to shape the science of human development. So the first story I have to tell is about how the relations between medicine and science, the clinic and the gene, are in the process of being constructed in dysmorphology and in genetic medicine. We might think these syndromes may simply re-present difference – difference in one set of children and their parents from another; that where these differences are associated with pathology and reconstituted as problematic, what we have is a case study of abnormality or deviation that walks the tightrope of identity politics. What emerges however is how the genetics of normal human development relies on this mapping of deviations in growth and form, with the observation and description of congenital abnormality. So much so, that what seems to be evident is that it is the normal that is itself shrinking. So that, as one geneticist put it to me: from his perspective, we all have a syndrome. But what is so extraordinary is how in these new kinds of medical entities, syndromes, something so tiny as genetic mutation is being held responsible for the extraordinary disruption seen in some children’s physical and intellectual growth and development, and across so many of their bodies systems. This brings me to the second story I have to tell, which is about how we are all becoming drawn into these studies on growth and form and how the findings in dysmorphology are likely to affect choice of partners and alter decisions about procreation in the future. The critical issue is thus of grasping the significance of these imaginaries – syndromes and other forms of classification - through which forms of life get constituted as malformations; and, further, understanding when and why they bother us, literally and conceptually. What matters is what we do with these imaginaries, particularly in terms of ideas of family and relatedness, of personhood and conceptions of what it is to be human. A third story concerns my interest in how medical power works. What I help to show, contrary to the predictions of other observers, is how medicine is retaining its dominance in society partly through the clinic. In a large part this has involved me in recognising that the power of medicine rests not so much in its ability to help generate cures – important as these discoveries are – but rather in its sticking to classification and the method of doubt as forming the twin bases of science. What I hope to show is that medical power works as much through deferral as decision; and that this is what helps to retain the clinic – with its intimate links to the family - as the final arbiter.

Item Type: Book
Book Type: Authored Book
Date Type: Publication
Status: Published
Schools: Centre for Economic and Social Aspects of Genomics (CESAGen)
Social Sciences (Includes Criminology and Education)
Subjects: H Social Sciences > H Social Sciences (General)
H Social Sciences > HM Sociology
H Social Sciences > HN Social history and conditions. Social problems. Social reform
H Social Sciences > HQ The family. Marriage. Woman
R Medicine > RA Public aspects of medicine
R Medicine > RJ Pediatrics
Publisher: Routledge
ISBN: 9780415699280
Related URLs:
Date of First Compliant Deposit: 30 March 2016
Last Modified: 25 Oct 2016 03:56
URI: http://orca.cf.ac.uk/id/eprint/70559

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