Andrew J. Hogan, Life Histories of Genetic Disease: Patterns and Prevention in Postwar Medical Genetics

Andrew J. Hogan, Life Histories of Genetic Disease: Patterns and Prevention in Postwar Medical... In 1990, when Michel Foucault’s The Birth of the Clinic was de rigueur for historians, sociologists and philosophers of medicine, Donna Haraway provocatively declared, ‘It is time to write The Death of the Clinic’ (p. 208). The proposal was that medicine’s scientific grounding had moved beyond clinical styles of perception and reasoning once medical investigators had fully embraced the concepts and tools of molecular biology. After all, medical geneticists were rapidly refining analyses of disease at the molecular level and mapping the entire human genome. Mirroring medical geneticists, science scholars typically marked the break around 1980—about the time the Human Genome Project (1990–2003) was being conceptualised on the promise of DNA sequencing technologies. Have clinical thought-styles been thoroughly eclipsed by molecular ones as the basis for making medicine scientific? Not exactly. But there was already firm consensus in the 2000s that the clinical gaze was no longer the governing logic of medicine’s scientific present. As Nikolas Rose opined in 2007, biomedicine’s clinical gaze ‘has been supplemented, if not supplanted’ by the molecular gaze (p. 208). In Life Histories of Genetic Disease, Andrew Hogan complicates any notion that there has been a radical epistemic break associated with the rise of molecular medicine. In fact, the now standard motif of carving medicine’s recent history into pre-molecular and post-molecular ages seems like unwarranted reverie after reading this excellent book. To its credit, Hogan’s chosen language is too restrained to declare that medical genetics and its scholars have been too hasty in declaring an epistemological rupture in medical history. The book’s specific concern is a seemingly mundane story about the practical importance of ‘the one mutation–one disorder’ ideal in post-war medical genetics. This ideal is profound because the vitality of genetic diagnosis and prevention today is embedded in an infrastructure that allows physicians to link randomly identified mutations to specific disorders to promote better health. The question is, how should we interpret this productive ideal/infrastructure? Has it really so thoroughly transformed medical experience? The odd numbered chapters in Life Histories are organised around diseases that embody Hogan’s main points about the genesis and structure of contemporary medical genetics. The even numbered chapters spell out technical developments that stabilised the field’s infrastructure—allowing medical genetics to migrate from a new style of practice at scientific medicine’s periphery to become part of its centre. Chapter 1 frames 1970s-era studies of Fragile X syndrome as a ‘representative detective story’ in which medical geneticists gained confidence in their clinical diagnoses by correlating discrete patterns of visible malformation (dysmorphology) to a single chromosomal mutation. Chapter 2 details the ‘chromosomal cartography’ whereby geneticists mapped clinically distinct disorders using the nomenclature of banded human chromosomes. Chapter 3 explores how medical geneticists conceptualised Prader–Willi syndrome in the 1980s as proof that the human genome’s ‘morbid anatomy’ was visible in ‘high resolution’ through chromosomal analysis. This era marked the point when cytogeneticists really began to team with molecular biologists to transform the clinical diagnosis of genetic disorders. As such, Chapter 4 stresses that molecular-level analysis of the human genome in the 1980s had very limited value in the absence of chromosomal referents. Chapter 5 explores the controversies surrounding DiGeorge syndrome and velo-cardio-facial (VCF) syndrome, in which two clinically distinct disorders became one. Here, medical geneticists employed their increasingly refined mapping techniques from molecular biology (i.e. in situ hybridisation) to isolate a single chromosomal mutation common to both syndromes. While molecular seeing arguably brought greater clarity to clinical diagnosis in the 1990s, Hogan shows how the one mutation–one disorder ideal raised contentious questions of expertise and institutional status as molecular biologists claimed prominence within scientific medicine. Chapter 6 then emphasises how, with the completion of the Human Genome Project in the early 2000s, molecular cytogeneticists expanded the reach of the molecular gaze by developing genome-wide microarrays. Throughout these chapters, molecular-level diagnosis of disease became increasingly prevalent, but the power of the molecular gazing remained contingent on older clinical and chromosomal ways of seeing, as medical geneticists and their patients have continuously relied on the latter level of organisation, analysis and communication to manage disease. Life Histories meticulously traces how the one mutation–one disease ideal has transformed clinical perception in recent decades—but it does so without ceding the primacy of a clinical thought-style to a molecular one. The book effectively shows that contemporary medicine’s embrace of genetic medicine has been a piecemeal development with more continuity across the decades than we have been conditioned to believe. Once we understand, as Hogan says, ‘the ongoing development of a genomic gaze, incorporating clinical, chromosomal, and molecular understandings and descriptions of disease’, it will be a lot less fashionable to speak of medicine’s past and future truths in terms of a molecular break (pp. 25, 210). In short, Life Histories quietly announces the historiographical death of pre- and post-molecular gazing. © The Author 2017. Published by Oxford University Press on behalf of the Society for the Social History of Medicine. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Social History of Medicine Oxford University Press

Andrew J. Hogan, Life Histories of Genetic Disease: Patterns and Prevention in Postwar Medical Genetics

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Publisher
Oxford University Press
Copyright
© The Author 2017. Published by Oxford University Press on behalf of the Society for the Social History of Medicine.
ISSN
0951-631X
eISSN
1477-4666
D.O.I.
10.1093/shm/hkx080
Publisher site
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Abstract

In 1990, when Michel Foucault’s The Birth of the Clinic was de rigueur for historians, sociologists and philosophers of medicine, Donna Haraway provocatively declared, ‘It is time to write The Death of the Clinic’ (p. 208). The proposal was that medicine’s scientific grounding had moved beyond clinical styles of perception and reasoning once medical investigators had fully embraced the concepts and tools of molecular biology. After all, medical geneticists were rapidly refining analyses of disease at the molecular level and mapping the entire human genome. Mirroring medical geneticists, science scholars typically marked the break around 1980—about the time the Human Genome Project (1990–2003) was being conceptualised on the promise of DNA sequencing technologies. Have clinical thought-styles been thoroughly eclipsed by molecular ones as the basis for making medicine scientific? Not exactly. But there was already firm consensus in the 2000s that the clinical gaze was no longer the governing logic of medicine’s scientific present. As Nikolas Rose opined in 2007, biomedicine’s clinical gaze ‘has been supplemented, if not supplanted’ by the molecular gaze (p. 208). In Life Histories of Genetic Disease, Andrew Hogan complicates any notion that there has been a radical epistemic break associated with the rise of molecular medicine. In fact, the now standard motif of carving medicine’s recent history into pre-molecular and post-molecular ages seems like unwarranted reverie after reading this excellent book. To its credit, Hogan’s chosen language is too restrained to declare that medical genetics and its scholars have been too hasty in declaring an epistemological rupture in medical history. The book’s specific concern is a seemingly mundane story about the practical importance of ‘the one mutation–one disorder’ ideal in post-war medical genetics. This ideal is profound because the vitality of genetic diagnosis and prevention today is embedded in an infrastructure that allows physicians to link randomly identified mutations to specific disorders to promote better health. The question is, how should we interpret this productive ideal/infrastructure? Has it really so thoroughly transformed medical experience? The odd numbered chapters in Life Histories are organised around diseases that embody Hogan’s main points about the genesis and structure of contemporary medical genetics. The even numbered chapters spell out technical developments that stabilised the field’s infrastructure—allowing medical genetics to migrate from a new style of practice at scientific medicine’s periphery to become part of its centre. Chapter 1 frames 1970s-era studies of Fragile X syndrome as a ‘representative detective story’ in which medical geneticists gained confidence in their clinical diagnoses by correlating discrete patterns of visible malformation (dysmorphology) to a single chromosomal mutation. Chapter 2 details the ‘chromosomal cartography’ whereby geneticists mapped clinically distinct disorders using the nomenclature of banded human chromosomes. Chapter 3 explores how medical geneticists conceptualised Prader–Willi syndrome in the 1980s as proof that the human genome’s ‘morbid anatomy’ was visible in ‘high resolution’ through chromosomal analysis. This era marked the point when cytogeneticists really began to team with molecular biologists to transform the clinical diagnosis of genetic disorders. As such, Chapter 4 stresses that molecular-level analysis of the human genome in the 1980s had very limited value in the absence of chromosomal referents. Chapter 5 explores the controversies surrounding DiGeorge syndrome and velo-cardio-facial (VCF) syndrome, in which two clinically distinct disorders became one. Here, medical geneticists employed their increasingly refined mapping techniques from molecular biology (i.e. in situ hybridisation) to isolate a single chromosomal mutation common to both syndromes. While molecular seeing arguably brought greater clarity to clinical diagnosis in the 1990s, Hogan shows how the one mutation–one disorder ideal raised contentious questions of expertise and institutional status as molecular biologists claimed prominence within scientific medicine. Chapter 6 then emphasises how, with the completion of the Human Genome Project in the early 2000s, molecular cytogeneticists expanded the reach of the molecular gaze by developing genome-wide microarrays. Throughout these chapters, molecular-level diagnosis of disease became increasingly prevalent, but the power of the molecular gazing remained contingent on older clinical and chromosomal ways of seeing, as medical geneticists and their patients have continuously relied on the latter level of organisation, analysis and communication to manage disease. Life Histories meticulously traces how the one mutation–one disease ideal has transformed clinical perception in recent decades—but it does so without ceding the primacy of a clinical thought-style to a molecular one. The book effectively shows that contemporary medicine’s embrace of genetic medicine has been a piecemeal development with more continuity across the decades than we have been conditioned to believe. Once we understand, as Hogan says, ‘the ongoing development of a genomic gaze, incorporating clinical, chromosomal, and molecular understandings and descriptions of disease’, it will be a lot less fashionable to speak of medicine’s past and future truths in terms of a molecular break (pp. 25, 210). In short, Life Histories quietly announces the historiographical death of pre- and post-molecular gazing. © The Author 2017. Published by Oxford University Press on behalf of the Society for the Social History of Medicine.

Journal

Social History of MedicineOxford University Press

Published: Feb 1, 2018

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