TY - JOUR
AU - Nelson, Nicole C
AB - We know much about the double helical theory of DNA structure and other molecular investigations of genomes in the postwar period, but how were researchers thinking about the architecture of chromosomes, or genomes as a whole? Using three case studies of human genetic syndromes—fragile X, Prader-Willi, and DiGeorge—Life Histories of Genetic Disease describes how micro-level understandings of the human genome emerged at the interface of laboratory research and clinical practice. Hogan argues that medical geneticists’ investigations of human chromosomes had wide-ranging effects—on disease categories, on the trajectory of molecular research, and on reproductive decision-making today. The book’s organizing concept of “life histories” highlights two ways in which medical genetics changed hereditary disease in the postwar period: it altered both the embodied experience of disease for affected individuals and the conceptual trajectory of how diseases were diagnosed, treated, and prevented (17-8). Hogan focuses on conceptual change, showing how dysmorphologists’ attention to unusual bodily features and cytogeneticists’ techniques for making chromosomes visible contributed to new disease categories. For example, in the first chapter he demonstrates how observations of enlarged testicles and unusually-shaped X chromosomes in patients with mental retardation were crucial pieces of evidence in debates about the nature of mental deficiency. The name of the new syndrome resulting from these discussions—fragile X syndrome—makes evident the central role of medical genetics in this delineation process. The book says relatively little about what this process looked like from patients’ perspectives, but Hogan’s “life histories” concept serves as a useful reminder of the impact that such conceptual shifts undoubtedly had on the lived experience of those individuals as well. “Life histories” might also be an apt metaphor for understanding the technological shifts that Hogan chronicles. Interspersed with chapters on genetic syndromes are chapters describing the tools and techniques that made the visualization of those syndromes possible. Hogan argues that these technologies evolved and intersected over time, with older forms of analysis living on as practitioners hybridized existing techniques with emerging ones. His discussion of chromosomal ideograms is an instructive example. In chapter two he demonstrates that schematic maps of human chromosomes served as an organizing infrastructure for the nascent field of cytogenetics in the late 1960s and 1970s, helping to standardize and coordinate the results practitioners obtained through visual analysis. As the field increasingly turned towards molecular analysis in the closing decades of the twentieth century it might seem reasonable to assume that the chromosomal ideogram’s best days were behind it, but Hogan shows that this was not the case. Chapter six describes how ideograms were embedded into online interfaces for browsing DNA sequence information, serving as an organizational infrastructure for a new type of data. While much of the action in Life Histories of Genetic Disease is in research venues, the application of medical genetics to everyday clinical practice—and in particular to reproductive decision-making—is an underlying concern throughout the book. Hogan demonstrates that a vision of preventing genetic disease (through prenatal diagnosis and selective abortion) underwrote the work of postwar medical geneticists. For much of the period that the book covers this goal was out of reach: fetal cells were not especially amenable to cytogenetic analysis (13), visualizing chromosomal anomalies was “messy, subjective work” (51), and even new, “objective” molecular technologies produced unacceptably variable results (119). By the early twenty-first century multiple types of prenatal genetic analysis were available to prospective parents, even though problems with how to interpret and act on the results of those analyses remained unclear. Hogan portrays these contemporary developments as part of an uncertain trajectory, arguing that “researchers in the 1970s could not have fully appreciated the extent to which their studies of Prader-Willi or DiGeorge syndrome would contribute to the development of infrastructure for diagnosis” (207). This conclusion, I think, undersells the value of his historical analysis. Life Histories of Genetic Disease shows that practitioners painstakingly constructed a suite of disease categories and genetic markers with the express aim of making prenatal genetic diagnosis possible. While the rapidly evolving set of techniques used to analyze genomes might make contemporary developments in prenatal testing seem stochastic, in many ways our present situation is true to the vision that Hogan’s actors laid out fifty years ago. © The Author 2017. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/about_us/legal/notices)
TI - Andrew Hogan. Life Histories of Genetic Disease: Patterns and Prevention in Postwar Medical Genetics
JF - Journal of the History of Medicine and Allied Sciences
DO - 10.1093/jhmas/jrx050
DA - 2018-04-01
UR - https://www.deepdyve.com/lp/oxford-university-press/andrew-hogan-life-histories-of-genetic-disease-patterns-and-prevention-2gNNfaSDOP
SP - 242
EP - 243
VL - 73
IS - 2
DP - DeepDyve
ER -