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Chromosomes in the Clinic: the Visual Localization and Analysis of Genetic Disease in the Human Genome University of Pennsylvania ScholarlyCommons Publicly Accessible Penn Dissertations 2013 Chromosomes in the Clinic: The Visual Localization and Analysis of Genetic Disease in the Human Genome Andrew Joseph Hogan University of Pennsylvania, [email protected] Follow this and additional works at: https://repository.upenn.edu/edissertations Part of the History of Science, Technology, and Medicine Commons Recommended Citation Hogan, Andrew Joseph, "Chromosomes in the Clinic: The Visual Localization and Analysis of Genetic Disease in the Human Genome" (2013). Publicly Accessible Penn Dissertations. 873. https://repository.upenn.edu/edissertations/873 This paper is posted at ScholarlyCommons. https://repository.upenn.edu/edissertations/873 For more information, please contact [email protected]. Chromosomes in the Clinic: The Visual Localization and Analysis of Genetic Disease in the Human Genome Abstract This dissertation examines the visual cultures of postwar biomedicine, with a particular focus on how various techniques, conventions, and professional norms have shaped the `look', classification, diagnosis, and understanding of genetic diseases. Many scholars have previously highlighted the `informational' approaches of postwar genetics, which treat the human genome as an expansive data set comprised of three billion DNA nucleotides. Since the 1950s however, clinicians and genetics researchers have largely interacted with the human genome at the microscopically visible level of chromosomes. Mindful of this, my dissertation examines the `observational' approaches of postwar genetics. This is accomplished through a series of case studies, which examine the visual delineation, diagnosis, and genomic localization of a number of disorders. My case studies explore various exemplary attempts to associate particular clinical disorders with specific genetic mutations. This dissertation uses archival resources, oral histories, and the published biomedical literature to examine the many successes of postwar biomedicine, and to highlight the contributions made by a wide rage of biomedical professionals. I find that the visible, tangible human genome, as conceived and depicted at the level of chromosomes, has become an important work object among a diverse array of practitioners. Chromosomal ideograms, I argue, provide an important basis for communication and common practices among this community. While genetic data is becoming increasingly significant ot our understanding of human disease, distinguishing the normal from the pathological remains a task that relies on input from the laboratory and the clinic. Thus, the success of postwar genetic medicine must be seen in light of the contributions of biomedical actors from many disciplines, who have agreed to see and communicate about the human genome - their object of study - in standardized ways. Degree Type Dissertation Degree Name Doctor of Philosophy (PhD) Graduate Group History and Sociology of Science First Advisor Susan Lindee Keywords Biomedicine, Classification Systems, Cytogenetics, Human Disease, Medical Genetics, Visualization Subject Categories History of Science, Technology, and Medicine This dissertation is available at ScholarlyCommons: https://repository.upenn.edu/edissertations/873 CHROMOSOMES IN THE CLINIC: THE VISUAL LOCALIZATION AND ANALYSIS OF GENETIC DISEASE IN THE HUMAN GENOME Andrew Joseph Hogan A DISSERTATION in History and Sociology of Science Presented to the Faculties of the University of Pennsylvania in Partial Fulfillment of the Requirements for the Degree of Doctor of Philosophy 2013 Supervisor of Dissertation Susan Lindee Janice and Julian Bers Professor of History and Sociology of Science Graduate Group Chairperson John Tresch, Associate Professor of History and Sociology of Science Dissertation Committee Ruth Schwartz Cowan, Professor Emeritus of History and Sociology of Science John Tresch, Associate Professor of History and Sociology of Science Jonathan Moreno, Professor of History and Sociology of Science CHROMOSOMES IN THE CLINIC: THE VISUAL LOCALIZATION AND ANALYSIS OF GENETIC DISEASE IN THE HUMAN GENOME COPYRIGHT 2013 Andrew Joseph Hogan ACKNOWLEDGEMENT Many people and institutions have contributed over the past five years to making this dissertation possible. The University of Pennsylvania has provided generous support over this time through the Benjamin Franklin Fellowship, the George L. Harrison Graduate Fellowship, and a Dissertation Research Fellowship. The Department of History and Sociology of Science has also provided a supportive and intellectually stimulating scholarly home over the years. It is a department that provides unusually generous support and resources for its graduate students. Many faculty members within the Department of History and Sociology of Science have contributed to making this dissertation what it is. My dissertation chairperson and long time advisor Susan Lindee has played an important role in guiding my learning and research throughout my time as a graduate student. She has great skill in providing helpful support when it is needed, while asking the tough questions when necessary. Susan helped me to make many of the connections at the University of Pennsylvania, and beyond that made this project possible, and has been constantly available to assist in all aspects of my research, both scholarly and administrative. Ruth Schwartz Cowan has played a valuable role in shaping how I approach my research, and has offered much in the way of new perspectives and approaches for making this project more broadly interesting. John Tresch has offered significant input for this project, and is always ready with a new perspective on my work, which is both fascinating and innovative. Jonathan Moreno and Robert Aronowitz have been a constant source of iii advice and support, and their door was always opened to me when I needed someone to talk to about this project, and my career more broadly. Many others at the University of Pennsylvania have provided great support over these years. In particular, I would like to thank the HSSC graduate students, past and present, for all that they have done to contribute to this project and my time at Penn. I have benefited greatly from my membership in the Center for the Integration of Genetic Healthcare Technologies at Penn. This organization has helped me to engage with a broad network of biomedical professionals, at Penn and elsewhere, who have been crucial to the completion of this project. Reed Pyeritz, Barbara Bernhardt, Michael Mennuti, and Laird Jackson have provided constant support and assistance, while making it clear that the results of this project are of interest and value to the broader medical community. I have also been lucky get to know so many people in the history of science and medicine community beyond Penn. Robin Scheffler has been a constant friend and helpful colleague for many years now. Nathaniel Comfort and Angela Creager have provided significant encouragement and feedback. I have benefited significantly from the friendship and career advice provided by Nathan Crowe, Dawn Digrius, Nathan Ha, Luis Campos, and many others. The community of scholars in the history of science and medicine has proven to be a constant source of energy, encouragement, and friendship, which I will value for many decades to come. In addition, I owe a debt of gratitude to those who have agreed to be interviewed, or helped to provide resources for this project. This includes Phoebe Letocha and Andrew Harrison at the Chesney Medical Archives, David Rose at the March of Dimes iv Archives, and Uta Francke at Stanford University. Over 30 geneticists and clinicians have been kind enough to take the time to be interviewed as part of this project. Together, they have provided a valuable dataset, which was integral to this research. I want to thank all of them for their time, energy, trust, and interest in this project. I also want to thank members of my family, without whom I would never have gotten this far. My parents have provided endless love and support for many decades. My father Gerry Hogan has imparted in me a love of history, and my mother Pat Hogan a continuous sense that both the past and future of genetics is an important topic of interest and study. Also, I want to thank my sister Lauren, who has provided much support and valuable insights based on her own growing interest in the project that is genetic medicine. Finally, I want to thank, with great affection, my wife Sabrina Danielsen, who entered my life early in my time as a graduate student at Penn. Sabrina has offered unwavering support and belief in me, and this project, from the very beginning. She has helped me to see the world in ways that will forever enhance my life and scholarship. v ABSTRACT CHROMOSOMES IN THE CLINIC: THE VISUAL LOCALIZATION AND ANALYSIS OF GENETIC DISEASE IN THE HUMAN GENOME Andrew Joseph Hogan Supervisor: Susan Lindee This dissertation examines the visual cultures of postwar biomedicine, with a particular focus on how various techniques, conventions, and professional norms have shaped the ‘look’, classification, diagnosis, and understanding of genetic diseases. Many scholars have previously highlighted the ‘informational’ approaches of postwar genetics, which treat the human genome as an expansive data set comprised of three billion DNA nucleotides. Since the 1950s however, clinicians and genetics researchers have largely interacted with the human genome at the microscopically visible level of chromosomes.
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