pp. 225-232 in
Bioethics in Asia
Editors: Norio Fujiki and Darryl R. J. Macer, Ph.D.
Eubios Ethics Institute
Copyright 2000, Eubios Ethics Institute
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6.6. The Visual Transcription of "Family Disease":
A Comparison of the Use of Medical Pedigrees in Canadian & Japanese Genetic Counselling Practices
McGill University, Quebec, Canada
At the end of the introduction to the book Ethics and Human Genetics (Wertz and Fletcher 1989:xxvii-xxix), J.C. Fletcher, a medical ethicist and a ‘hearing son ... of deaf parents’, recalls his personal experience with genetic counseling: ‘I and countless others were told that my father lost his hearing in 1904, when at age four, he was "struck by lightning" standing on the back porch of his Alabama farm home from watching a storm. .... The story of my father’s miraculous survival was literally a legend in his time’. By 1980, Fletcher’s 'growing involvement with medical geneticists, unanswered questions about the actual cause of [his] parents’ deafness, and three maturing children led [him] to seek help from genetic counselors to assess the genetic risks of deafness in [his] family'. The story of his father’s deafness was examined through discussions with neurologists and with his father’s cousin. Fletcher realized that the lightning story was false. The cousin recalled that the father had become ‘very sick, was taken to the doctor for a long time, and came back deaf’. In the end, the exact cause of the father’s deafness was not uncovered. Still, the outcome of this episode was that the old family story was examined and replaced by a new medical account.
For my present purpose, however, it is not simply a question of replacing one story of the life world with another. In fact, inquiries into family stories resort to the drawing of a medical pedigree. Indeed, 'even in the age of the new genetics,' medical pedigrees still constitute the 'basic investigative tool' in the genetic clinic (1). Thus, medical genetic inquiries involve a series of translations from a web of oral narratives to a sequence of visual inscriptions which, in turn, become part of larger inscriptions connecting medical pedigrees to the visual display of, say, cytogenetic or molecular biological test results. Thus it is important to investigate exactly how medicine produces its objects, by analyzing the sequential construction, display, combination and mobilization of various visual tools.
In his discussion of 20th century hospitals, Howell noted the hospitals had already become great laboratories for documentary methods, that is, a system of intense registration and of documentary accumulation (2). In the case of genetic counseling and medical pedigrees, individuals are not simply situated in a network of writing; they also become part of the medical pedigree’s network of icons. In other words, individuals are 'translated' into elements of a collective, familial, and thus biosocial body. It is not simply that individuals are re-placed in the 'context' of their families; rather, the redefinition of individuals in relation to notions of risk leads to the establishment of new notions of family and even population (1,3). Consequently the redefinition of individuals modifies simultaneously the context and the relation of the individual into a particular map of the family disease.
This paper analyzes the tools and practices of medical pedigrees in genetic counseling practices in Canada and Japan. In this paper, my focus is on the similarities of contemporary Canadian and Japanese practices rather than the differences, that is, visual mobilization of family information. I hope to show that the genetic counselors' transcriptions and publication of medical pedigrees are not only a technically central part of genetic counseling practices, but also they mobilize key bioethical and cultural issues such as notions of family, the ownership of family information, and the performance of 'family disease.'
First, I introduce how medical pedigrees play an ambiguous role in genetic counseling practices and why the analysis of medical pedigrees is crucial for social and bioethical inquiries. Second, I briefly explain comparative methods as well as Amann and Knorr-Cetina’s (4) model of visual fixation, and then present some of the findings of my ethnographic research.
Genetic Counseling and Medical Pedigrees
Genetic counseling and genetic testing have experienced a tremendous growth since the late 1960s. Thus, it should not be surprising that several social scientists have paid attention to genetic counseling practices and its ethical issues. Some are chiefly interested in warning against the dangerous consequences of these activities, often likened to various forms of eugenics, and others are adopting an ethnographically-oriented approach (5). Nevertheless, social and medical scientists have paid less attention to the preliminary and taken-for-granted parts of the practices. A distinctive characteristic of genetic counseling services and research is the preliminary collection of the family data. Medical geneticists suggest that genetic counseling is different from traditional medical practices, in the way that genetic counselors assess not only a single patient but also his/her entire family in the pre-counseling stage. Genetic counselors and researchers often request medical information on other family members, or ask the relatives to have a DNA test. Both social scientists and medical practitioners tended to jump to an overall assessment of the genetic counseling practices without questioning the role of medical pedigrees.
Ambiguity of Medical pedigrees
This social scientists' neglect can be linked to the pedigree’s ambiguous status. It is possible to say that medical pedigrees are important but rather "forgotten" tools. For instance, on the one hand, textbooks of medical genetics do indeed describe pedigrees as essential for reaching a correct diagnosis, determining an accurate prognosis and, most importantly, for the presymptomatic diagnosis of genetic disease and the prevention of clinical disease. On the other hand, the transcription of family trees is often considered an unexciting, routine task, all the more so when compared to the increasingly sophisticated tools, such as Southern blots, PCR, and gene sequencing machines, recently put at the disposal of human genetics by molecular biology.
However, my point is that it is precisely the ambiguous status of medical pedigrees that turns them into one of the inquiries for social studies of biomedicine. Medical pedigrees can be understood as the visual tools or what Latour (6) calls 'inscriptions' used by clinical and laboratory workers to make visible the invisible 'heredity' of the family. Medical pedigrees thus constitute the family and 'family disease' into an object of medical intervention. The pedigrees not only function as tools for the production of medical evidence but also work as 'boundary objects'. Medical pedigrees connect both different professional practices as well as external and internal, collective and individual aspects of the body. Thus, their power as clinical tools is grounded less in their 'static' properties than in the fact that they can be mobilized as part of an expanding network of molecular evidence around which a practice such as genetic counseling is increasingly reorganized.
Most of the findings reported in this paper originate in comparative, ethnographic fieldwork carried out from January 1994 to August 1995 in Canada and Japan. The decision to collect data in two widely-different national settings was strategically oriented to the task of exploring the taken-for-granted elements of genetic counseling practices. The field work consisted of both interviews and participant observation. The former was carried out, in Canada, among 29 clinical workers--4 Ph. D. researchers, 8 MD genetic counselors, 14 MS genetic counselors, and, in Japan, among 27 clinical workers--3 Ph. D. researchers, 17 MD genetic counselors, 7 public health nurses. Interviews were tape-recorded, except for informal discussion with laboratory workers, in which case detailed notes were taken immediately after the discussion.
Participant-observation was undertaken in Canada in two children's hospitals and a general hospital, and, in Japan, in two children's hospital, a general hospital and a public health center. It first involved participation in training courses, university lectures and training seminars for genetic counseling. Subsequent observations focused on counselor-client sessions and counseling team meetings in children's and general hospitals in Tokyo, Montreal and Toronto. A content-analysis of clinical documents and genetic counseling articles and textbooks used by genetic counselors in the course of their practice was also undertaken.
The Performance of Medical Pedigrees
By following the genetic counselors’ work it is possible to analytically divide the process of visual documentation of family data into sequential elements: primary transcription, secondary transcriptions, combination and circulation. These categories bear some resemblance to Amann and Knorr-Cetina’s (4) distinction between proto-data (i.e., uncertain, unstable, visually flexible documents), evidence (i.e., stabilized, published facts) and accepted theory, a distinction aimed at focusing attention on how proto-data are transformed into evidence through various forms of tinkering. This model consists of three levels of visual documentation; at the level of proto-data, family narratives are transcribed as family trees; at the level of evidence, family trees are retranscribed as medical pedigrees; and at the level of genetic theory, medical pedigrees are published as family history.
In primary transcription, family data is translated by genetic counselors from oral narratives into a hand-written family tree characterized by the contrasting presence of icons depicting normality and abnormality. As one of the cultural differences in genetic counseling, in Canada, the prototype of the family is most likely to be the nuclear family consisting of a couple and one or two children (7), while in Japan the counselors are confronted with an extended family that includes not only the couple and the children but also the grandparents, who often show up in the consultation room (8) and even ancestors. Furthermore, in Canada, team medicine consists of genetic counselors with MS background, specialized geneticists and laboratory workers, while in Japan these specialties do not function as team medicine.
However, in both cultural settings, genetic counselors contrast normal and abnormal icons throughout the process. Hospitals have different file formats for family trees. Among genetic counselors in Canada, for example, two standardized types of family trees were dominant: the straight (Figure 1) and the semicircular one (Figure 2). A straight family tree is an ordinary diagram. The diagram is constituted by many icons and straight lines that branch out like a tree. This type was utilized in general hospitals in Montreal, Ottawa and Toronto. A semicircular type was used in a pediatric hospital in Montreal. One possible interpretation of the semicircular type is that the pedigrees may stress the reproduction of a nuclear family's child rather than the ancestors. One important point is that the representation of family trees is diverse--there is no universal form.
A large variety of formats is found to exist in Canada and Japan. For instance, in North America pregnancy is symbolized in at least 17 different ways, with some of the same symbols being attributed different meanings (9). A Canadian MD noted that 'as long as you put a mark in the legend box, you can use any kind of symbols you want.' The diversity of formats and symbols used in primary transcriptions are a potential threat to the performance and expansion of genetic counseling. Medical activities are made possible by various forms of regulation, including standardization. Genetic counseling is no exception: secondary transcriptions are part of the answer to the problem raised by the local variability of primary transcriptions.
Secondary transcriptions (Figure 3) translate primary trees into medical evidence. The medical pedigrees become medical documents with both a clinical and a legal-administrative meaning, raising the issue of who owns this newly created ‘family information’. As opposed to primary transcriptions, which result from interactions with family members, secondary transcriptions are mainly the outcome of interactions between genetic counselors and other associated health care workers. As a result, to a large extent secondary transcriptions are regulated by clinical norms and guidelines.
Secondary transcriptions include several edited versions: an updated version, a personal version, a team version, and a version for requisition sheets. The difference between the primary pedigree and the secondary pedigrees is that the primary pedigree is usually grounded in the interaction between the genetic counselors and the patients, while the secondary pedigrees are produced mainly by the counselors and other associated workers. Through secondary transcriptions, pedigree information is stabilized and maintained as a clinical case file such as medical evidence. This explains why some counselors call for the establishment of standardized, universal pedigree symbols. Secondary transcriptions standardize and stabilize the data produced by primary transcriptions.
By reordering and stabilizing the initial family data, genetic counselors shift their focus from individual family members to the medical pedigrees. Indeed, an often cited aspect of the medical pedigree is its 'at a glance' quality. As noted by a Japanese public health nurse, "the most important thing is to select the information in order for the other associates to see and understand it at-a-glance.' For genetic counseling is not always carried out by a single practitioners, but often, especially in Canada, by a team of several counselors, who operates sequentially to check and complete the pedigree. Pedigrees play a co-ordinating role between genetic counselors and other associated workers in different departments or hospitals, such as specialists of rare genetic diseases or supervisors of diagnostic laboratories. As noted by Gelehrter (10), 'the history must be recorded so that it communicates information to all heath professionals caring for the patient.' Routine genetic counseling practices, such as the construction of family trees and medical pedigrees, produce visual representations of family data that operationally redefine the notions of family, population and disease. However, there is no clear answer as to who owns the family history. This is clearly shown by the analysis of combination processes.
Figure 1: Example of a primary transcription: a straight family tree used in a Canadian hospital.
Figure 2: Example of a semi-circular family tree used in a Canadian hospital.
Combination is the process of 'triangulating', a medical pedigree with other evidence, such as other pedigrees or results of genetic tests. The process of combination is a powerful technique for mobilizing previously stabilized facts. Whereas primary and secondary transcriptions are characterized by the genetic counselors’ efforts to translate and stabilize complex family data in a clinical context, combination is defined by the collective work of mobilizing and managing facts across different clinical settings. Through the combination technique, clinical workers collectively associate and reconstruct, previously independent, stabilized data. The resulting image acts as robust evidence for the presence of a ‘genetic disease’ and counter-acts the openly acknowledged uncertainty surrounding medical diagnoses in genetic counseling. As such, combinations function as ‘boundary objects’ that allow for divergent uses, interpretations, and reconstructions to be practiced by the various health-care workers. As a result, the combination of medical evidence helps genetic counselors to see "the family history as part of the present expression of illness."
In my research, combinations included two types: large pedigrees and laboratory pedigrees. Large pedigrees result from the merging of individual family pedigrees. As noted by Cook-Deegan (11): "The questions [of how to make the pedigree public] are far from clear, ... since information is neither fully private nor fully public, but often somewhere in between.' A large pedigree resulting from a research project is a collective production of a set of persons including various family members, genetic counselors, geneticists, and laboratory workers, or even by the association of affected individuals and public foundations, so that it is impossible to reduce the final results to the contribution of a single individual or group of individuals. The point, here, is that large pedigrees lead to open-ended extensions of established social, legal, and biological configurations.
Laboratory pedigrees link pedigrees to tables of molecular biological data. A laboratory pedigree is generally stored as a master file in a molecular biological laboratory. Laboratory pedigrees conflate the phenotype-genotype relationship and display the relationship between these two levels of genetic reality. They simultaneously act as boundary objects bridging different clinical settings. The focus of lab pedigrees is no longer, as with the clinical pedigrees, on chronological order, but, rather, on indexed categories of indicated diseases. Thus, while the symbols and icons referring to individual family members retain the same meaning as in clinical pedigrees and are used to distinguish 'normal people' from 'carriers' and 'diseased people', laboratory pedigrees, in contrast to large pedigrees, tend to disassemble the visual representation of the family as a whole. As noted by a clinical geneticist: 'the pedigree information is critical to any DNA test.' Yet, in many laboratories, workers are not allowed to contact the family, and the family pedigree, as edited by genetic counselors, becomes the primary connection between the family and the biologists. Family and clinical narratives are replaced by 'flat' inscriptions and the documentation processes that was involved in the production of the initial pedigree is thereby made invisible.
Publications are the major part of the circulation of combined clinical evidence. Publications are also the result of collective work. Publications lead to the establishment of coherent knowledge about genetic diseases. The role of visual documentation in publications is to produce an integrated image of genetic theory through the combination of relational, external, and internal images of the patients' bodies. The family history used in medical textbooks plays an important role in introducing biology students to the perception of the family history as parts of the present expression of illness.
Although each part of evidence are separately constructed in their practices, the mobilization of evidence constrains us to perceive a particular coherent image of genetic disease. For example, the figure 4 was published in the Japanese journal Knowledge of Medicine under the title "Seeing Genetic disease: Fragile X Disease." This journal was used as material for an intensive genetic counseling training session in Japan. The photographs represent both the inside and the outside of the body. The external body photographs show both the front and side of the external and particular features. The internal photographs consist of several chromosome pictures. Furthermore, the colored icon in the family histories refers to the relational aspects of illness. These different types of visual representations explain some aspects of the present Fragile X disease. By juxtaposing the various elements, the researchers construct an objective image of an illness. Fact mobilization has a strong explanatory power because of its integrated aspects of different information.
Figure 4: An integrated picture of a ‘family disease’ (Fragile X) published by a Japanese medical journal (Source: Ishikiri and Niikawa 1984. Reprinted with permission from Life Science Publishing Co., Ltd.)
Figure 3: Example of a secondary transcription used in a Canadian hospital; compare to Figure 2.
This process culminates in medical textbooks, which often resort to medical pedigrees to illustrate the various (single-gene, multiple-gene) transmission patterns of genetic disease. In doing so, they use highly schematic pedigrees, from which all elements that would allow for their use in concrete clinical situations have been erased (e.g., Harper's textbook, 12). Textbook pedigrees become, in fact, the embodiment of genetic disease and play an important role in the socialization of geneticists and genetic counselors. Before clinical workers even start to treat family members in the counseling sessions, they have internalized a representation of genetic diseases that takes the form of a medical pedigree.
The focus of this paper has been on medical pedigrees as mediating devices between external and internal, collective and individual aspects of the body, as well as between different professionals. I have examined briefly the sequential transformation of family trees into medical pedigrees, i.e. into tools for the production of medical evidence, or, more precisely, for the performance of family diseases and further on, as icons of 'genetic disease.' Medical pedigrees should not be reified: their power as clinical tools lies less inside them than in the fact that they can be mobilized as part of an expanding network of molecular evidence. Yet, one should also be careful not to 'oversocialize' pedigrees: objects and tools play a mediating role in social relations, to which they cannot be reduced.
An implication of my analysis is that the power of genetic knowledge resides not only in technological developments in laboratory work, but also in clinical work where fact mobilization is practiced in the taking of medical pedigrees. While I do agree with several aspects of the argument according to which the application of molecular biology techniques to medicine constitute a radical change of perspective, I hope to have shown that 'new genetics' and its clinical performance resort to apparently 'mundane' tools such as pedigrees, that have a longer, more complex history. This also means that the 'new genetics' is not exclusively grounded in laboratory tools materials, but also resorts to clinical data and records: laboratory samples will not work properly without the accompanying pedigree. For sure, the new genetic network into which pedigrees are by now integrated is a different network from the ones of which they had previously been a part. Yet, these differences should not blind us to the presence of continuities inscribed in the very tool that are transmitted from one period to the other.
Finally, and in relation to my previous point, I hope to have shown that a central issue in relation to which these continuities can be explored is the notion of the family. Quite often, social scientists have approached the topic of human and medical genetics in terms of the twin issues of race and eugenics. The association between pedigrees and family, while certainly at first less dramatic, appears to me as at least as decisive for any detailed exploration of the contemporary mechanisms of 'bio-power' and 'bio-sociality'.
1. Richards, M. (1996) Family, Kinship and Genetics. In Marteau, T. and Richards, M. (ed), The Troubled Helix. Social and Psychological Implications of the New Human Genetics. Cambridge: Cambridge University Press. pp. 250.
2. Howell, J.D. (1995) Technology in the Hospital. Transforming Patient Care in the Early Twentieth Century. Baltimore: The Johns Hopkins University Press.
3. Strathern, M. (1992) After Nature: English Kinship in the Late Twentieth Century. Cambridge: Cambridge University Press.
4. Amann, K. and Knorr-Cetina, K. (1990) The Fixation of (Visual) Evidence. In Lynch, M. and Woolgar S. (eds) Representation in Scientific Practice. Cambridge, MA: MIT Press.
5. Bosk, C.L. (1992) All God’s Mistakes: Genetic Counseling in a Pediatric Hospital. Chicago: The University of Chicago Press.
6. Latour, B. (1990) Drawing Things Together. In Lynch, M. and Woolgar, S. (eds) Representation in Scientific Practice. Cambridge, MA: MIT Press.
7. Decima Research (1993) Social Values and Attitudes of Canadians Toward New Reproductive Technologies. In Royal Commission on New Reproductive Technologies, Research Volume 2. Ottawa: Minister of Supply and Services Canada.
8. Ohkura, K. (1989) Genetic Counselling and Ethics, The Study Meeting of Local Genetic Counselling For Nurses (Kangoshoku no tame no Chiki-idens_dan-kenky_ kai), 10, 7-16.
9. Bennett, R.L., et al (1993) The Need for Developing Standardized Family Pedigree Nomenclature, Journal of Genetic Counseling, 2, 261-73.
10. Gelehrter, T.D. (1983) The Family History and Genetic Counseling: Tools for Preventing and Managing Inherited Disorders. Postgraduate Medicine, 73, pp. 122.
11. Cook-Deegan, R.M. (1994) Ethical Issues Arising in the Search for Neurological Disease Genes. In Fujiki, N. and Macer, D.J.R. (eds) Intractable Neurological Disorders, Human Genome Research & Society. Proceedings of the Third International Bioethics Seminar in Fukui, Japan, 19-21 November, 1993. Tsukuba: Eubios Ethics Institute. pp. 85.
12. Harper, P.S. (1993) Practical Genetic Counselling. Oxford: Butterworth-Heinemann.
Captions: In the figures, names and other details have been changed so as to preserve anonymity.
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