Thesis advisor: Eve Spangler / This study seeks to better understand the "public face" of human gene therapy through an examination of coverage of the technology in mainstream U.S. newspapers, news magazines, and online news sites from 1989 to 2011. By conducting a qualitative content analysis that employs a constant comparative method and uses the computer-assisted qualitative data analysis software HyperRESEARCH, prevailing images and metaphors about human gene therapy are identified. These images and metaphors are analyzed through the lens of the sociology of technology, with particular attention given to technological determinism, geneticization, and the sociology of expectations. Further, their connection to issues of self and identity, embodiment, and illness meanings is explored. Four main types of images and metaphors emerge from this analysis: essentialist, fatalistic, expectant, and conflictive. While these types present an array of diverse (and sometimes conflicting) characterizations of human gene therapy, they all contribute to a positive, hopeful public face of the technology, despite its limited successes and sometimes tragic failures over the past three decades. The study considers the broader implications of these findings and addresses the role sociologists could play in helping the public to navigate the media discourse surrounding human gene therapy and other emerging medical technologies. / Thesis (PhD) — Boston College, 2012. / Submitted to: Boston College. Graduate School of Arts and Sciences. / Discipline: Sociology.

<p>This dissertation explores the social history of genetic counseling in the United States between 1930 and 2000. I situate genetic counselors at the interstices of medicine, science, and an increasingly “geneticized” society. My study emphasizes two central themes. First, genetic counselors have played a crucial role in bridging the “old eugenics” and the “new genetics” as mediators of genetic reproductive technologies. Genetic counselors negotiated the rights and responsibilities of genetic citizens in their patient encounters. Discourses of privilege and duty were also extrapolated outward to public debates about the new genetics, demonstrating the highly-politicized contexts in which counselors practice and women make reproductive choices. Second, I interrogate the professionalization process of genetic counseling from a field led by male physician-geneticists in the 1940s and 50s, to a profession dominated by women with Masters degrees by the 1980s and 90s. This transformation is best understood through the framework of a “system of professions,” and counselors’ professional position between “sympathy and science.” These frameworks similarly structured the client-counselor relationship, which also centered on concepts of risk, the promotion of patient autonomy, and the ethics of non-directiveness and client-centeredness. These principles distanced counselors from their field’s eugenic origins and the traditional doctor-patient relationship. I emphasize the voices of genetic counselors based on 25 oral history interviews, and hierarchies of gender, race, and educational status at work in the profession’s history. A study of genetic counseling is an important contribution to the histories of health and medicine, medical sociology, bioethics, disability studies, and gender and women’s studies.</p> / Doctor of Philosophy (PhD)

Alors qu’il n’existe pas de définition consensuelle du concept de maladie génétique, ce concept s’est progressivement élargi pour désigner des maladies communes, non héréditaires, non mendéliennes et polygéniques, aboutissant à une généticisation des maladies. Pour résoudre ce paradoxe de la génétique médicale contemporaine, les philosophes réfutent généralement cette généticisation comme une extension génocentriste abusive du concept de maladie génétique et cherchent à redéfinir un concept plus strict de maladie génétique. Nous montrons que cette stratégie échoue et proposons au contraire d’abandonner le concept de maladie génétique et de supposer que la généticisation révèle l’élaboration d’une explication du rôle commun des gènes dans toutes les maladies, que nous appelons une « théorie génétique de la maladie ». Nous définissons les conditions de possibilité et les critères nécessaires d’une théorie génétique a minima et aboutissons à un spectre des théories génétiques possibles. Nous proposons alors de tester si la généticisation des maladies révèle plutôt une théorie génétique des maladies, c’est-à-dire un ensemble de théories génétiques spécifiques à chaque classe de maladie, ou une théorie génétique de la maladie, reposant sur une définition générale de la maladie qui unifie le rôle commun des gènes dans toutes les maladies. Pour ce faire, nous analysons deux exemples de théories génétiques contemporaines : la théorie génétique des maladies infectieuses et la théorie génétique de la médecine des réseaux. Nous concluons à la coexistence nécessaire de plusieurs formes de théories génétiques dans la littérature biomédicale contemporaine. / While there is no consensual definition of the concept of genetic disease, this concept has gradually extended to designate common, non-hereditary, non-Mendelian, polygenic diseases, leading to the geneticization of diseases. In order to solve this paradox of the contemporary medical genetics, philosophers usually discard geneticization as an inappropriate genocentrist extension of the concept of genetic disease and attempt to define a stricter concept of genetic disease. We demonstrate the failure of this strategy and argue on the contrary that we should give up the concept of genetic disease and understand geneticization as the elaboration of an explanation of the common role of genes in diseases, what we call “a genetic theory of disease”. We define the conditions of possibility and the necessary criteria for a genetic theory a minima and end up with describing the spectrum of potential genetic theories. We then suggest to test whether geneticization of diseases reveals rather a genetic theory of diseases, that is, a set of genetic theories specific to each class of disease, or a genetic theory of disease, that is, a general definition of disease unifying the common role of genes in disease explanations. In order to do so, we analyse two examples of contemporary genetic theories: the genetic theory of infectious diseases and the genetic theory of network medicine. We conclude that several forms of genetic theories coexist in the contemporary biomedical literature and that this coexistence is necessary.