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Article Excerpt
IN THIS PAPER, I draw on a work-in-progress summary of a cross-national study I am completing on the development and growth of medical genetics as a specialism in the U.K. and Canada to explore the circumstances under which the geneticists involved set about turning their work into a medical specialism based on a "genetics-based approach" to illness and how medical genetics as a service specialism has been assessed and configured to fit national and regional health service requirements. (1) I have elsewhere (2001: 457-65) provided a detailed survey of the relevant materials in the sociology of professions literature for studying national patterns of specialization in medicine and noted that at least four discrete lines of empirical research can be discerned, each one implicitly or explicitly representing a distinct way of understanding the specialization process and the collective character of the medical profession.
The first line of inquiry, building on earlier research that predicted incessant professionalization of occupations, stressed unfolding internal differentiation within professional organizations and the need to manage divergent beliefs, values and interests (e.g., Hughes, 1958; 1971; Janowitz, 1960; Glaser, 1964; Bucher and Stelling, 1964). A number of these writers indicated that increasing bureaucratization was limiting or reducing the range of activities and/or discretion of professionals (e.g., Wilensky, 1964; Hall, 1968; Johnson, 1972; Haug, 1973; Ritzer and Walczak, 1988). This was followed by a second line of inquiry, the so-called "power dominance perspective" on collective autonomy and professional control. With specific regard to medicine, Eliot Freidson (1970) argued that the organized autonomy of physicians had broadened into dominance over kindred occupations. Magali Sarfatti Larson (1977) emphasized the movement towards standardization of practices and control over the dissemination of the knowledge base to dominate the market in knowledge-based services. Similarly, Andrew Abbott's (1988) "system of professions" put the accent on "cultural work" that would ensure that clients, competitors, the state and the public acknowledge the value of the expertise and service offered by professionals. Relatedly, a third line of inquiry underscored mechanisms of social control, and the dominance of medicine was said to have been extended through professionalization to areas of service that had previously come under other categories of everyday life, such as giving birth, child rearing and schooling (Zola, 1972; Foucault, 1973).
By contrast, one further line of inquiry, derived from a series of historical papers and books on medical specialties, was critical of the Anglo-American bias in sociological models of professionalization that focused on a strong degree of autonomy and self-governance among professionals and "analytical categories that appear to transcend the experience of particular professions" (Johnson, 1975: 186-87; cf. Shortt, 1983; Burnham, 1996). A different trajectory of professionalization, the historians pointed out, had occurred in Europe and elsewhere in which professional functioning had been greatly affected by state control of resources and policies (Shortt, 1983; Geison, 1984: 2-3; Burrage, 1990; McClelland, 1991: 11-27). Authors consequently set about isolating, for closer scrutiny, the histories of significant institutions and groupings of practitioners who were self-identified as professionals at the national and/or local levels. Institutions and their members, it was argued, were not the by-products of professionalization but, rather, could be viewed as "an evolving set of solutions to changing problems" (Pernick, 1978: 1029).
Specifically with regard to the specialization process and the collective character of the medical profession, authors in the fourth line of inquiry have made a strong case for making a distinction between the medical specialization of the nineteenth century and that which took place in the decades leading up to and following roughly 1950 (Geison, 1984; McClelland, 1991; Weisz, 2006; cf. Crosland, 1977; Burnham, 1998). The stages of development and periodizations that emerged shifted focus away from the themes of encroaching bureaucratization and professional control. The emphasis was rather on the styles, function and consequences of medical research and teaching on innovation in clinical practice. Specialization in nineteenth-century medicine was associated with innovations in laboratory research and the training of general practitioners (Weisz, 2006: 3-63, cf. Shortt, 1983; Ramsey, 1984). And the major locus for empirical study here was the combination of medical school and teaching hospitals. Specialisms became the dominant form of medical practice and took away from earlier forms of "general" practice. More particularly, new approaches to professional training and certification emerged alongside new ways of framing the regulation and standardization of health care practices. As George Weisz (2006: xvi-xvii) observes, medical specialization "evolved from a largely local to a national phenomenon, producing new kinds of specialist associations, transforming the institutions of the larger medical profession, and, in some cases, becoming an issue for political authorities." Additionally, he notes, since the 1960s, "many new specialties and subspecialties have grown out of innovations produced by the academic research sector (reproductive medicine, medical genetics), while others are the consequence of what are perceived as new social needs (family and adolescent medicine, geriatrics)" (2006: 231).
Specifically, and with a view to the ideas of evolving stages of development and periodizations, I examine in this paper how a range of medical interests were brought together around: 1) Mendelian genetics and the adoption of probability and statistics as scientific methods of quantifying the risk of heritable disease; 2) the acceptance by medical academia of probabilistic and new multifactorial models of disease aetiology; and 3) the negotiated protocols and standards of medical practice worked out by bodies such as the relevant royal colleges, the linked associations and societies for medical professionals, affected training and research authorities, and government.
The Medico-Scientific Background of Medical Genetics in North America and the U.K.
The available histories suggest that although the study of genetics gained scientific acceptance between 1915 and 1930 in Norway, Sweden, Denmark, the United States and the Soviet Union, it was less well received in Germany, and quite poorly received in the United Kingdom and France (Allen, 1978: 278-83; Harwood, 1993: 143-56). By and large, European scientists were more interested in studying the grander Darwinian theories of evolution and trained in descriptive and qualitative methods of research (Sapp, 1983; Rushton, 2000). Those supporting the new probabilistic reasoning of Mendelian theories of genetics tended to have a background in experimentalism and were more likely to be found in the agricultural and social sciences, as well as in disciplines such as demography, vital statistics and agricultural science.
The term "medical genetics" first appeared in articles written by Madge Thurlow Macklin (1932; 1933), then teaching histology and embryology at the University of Western Ontario. The term also appears in books written by John A. Fraser Roberts (1940), then Principal Investigator at the Burden Mental Research Department, Stoke Park Colony, Bristol, and Laurence H. Snyder (1941), then professor of medical genetics at Ohio State University. These publications were ostensibly introductions to applied human genetics for medical students and physicians. At no time, however, do the early authors on medical genetics qua geneticists claim to be specialists in the field of medicine; rather, they are appreciative reporters of innovations in science. Common concerns are nonetheless evident and all have to do with the perceived need, first, to close the gap between theoretical and clinical capability in the application of genetics-based knowledge in clinical practice, and second, to educate individuals about the practical uses of genetic theory in medicine.
Daniel Kevles (1985: 205) has indicated that fewer than 200 people published any research in the early Anglo-North American contingent of human geneticists. Of these, fewer than 50 published more than once. The situation changed noticeably after the Second World War. Formal positions for "human geneticists" had been created in 31 centres in the United States (25), Canada (4), and England (2) by the end of the 1950s (Leeming, 2004: 483-84). But little is actually known about the contents of early human genetics research and teaching in Anglo-North American universities and colleges. What we do know is that the Association of American Medical Colleges (AAMC) in North America sponsored the first organized efforts to gather information on the extent of genetics instruction in medical schools as early as 1946 (Leeming, 2004: 484-86). An AAMC report on a 1954 workshop on "Objectives of Teaching" is of particular interest in terms of the unexpectedly high levels of demand indicated for genetics instruction in medical schools (Subcommittee on Objectives of Teaching, 1955). Moreover, the discussion generated by the recommendations of the Report appears in a number of later surveys and reviews on the subject. (2)
Clinical techniques involving the identification of hereditary factors in disease are described in the Report as supplementing the practices of "any [medical] specialty that can be named" (1955: 19). Turning to the question of who should teach genetics, participants in the workshop generally agreed upon "a trained medical geneticist on the staff" who "could also have service and research functions" (1955: 21-22). Thus, a multi-faceted role is envisioned for medical geneticists working in North American teaching hospitals. As a "staff geneticist," the medical geneticist would provide clinical consultation and physical examination with respect to cases of: birth defects, known inherited disorders in families, multiple miscarriages and stillbirths, mental retardation (where cause is unknown) or developmental delay, growth disorders, dysmorphological features, and ambiguous genitalia or abnormal sexual development.
Comparatively speaking, five subsequent surveys, completed over a period of three decades, show that the proportion of medical schools with formal courses in genetics increased from 8.6% in 1953 to 86.5%...
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