Evelyn Parsons

Trajectories of Collaboration and Competition in a Medical Discovery

In 1991, the myotonic dystrophy gene was cloned by researchers from Cardiff, London, and elsewhere overseas. This article examines the relationships between the different research groups. It shows that the scientific collaboration on the myotonic dystrophy research was not a constant, stable feature of scientific progress but a process whereby the relationships among the scientists altered over time according to the stage of the research. This process was mediated by vested interests, by personalities, by the power differentials of the groups, by the resources of the groups, by subcollaborations, and by interactions with those outside the main research network. The collaboration can be seen as a continuum, ranging from full cooperation with all parties to selected revelations to specific parties to intense competition. These cooperative and competitive relationships are seen primarily from the perspective of one research group, with whom intensive field research was conducted.

Genetic risk and reproduction.

Research was conducted with women who had experience of Duchenne Muscular Dystrophy (Duchenne) in the family. Intensive, qualitative interviews were conducted with a two-generational sample of women. This paper concentrates on the reported experiences of women who became pregnant while being aware of medically defined genetic carrier risk. Three types of reproductive decision-making are identified: risk-taking, risk-refusing and risk modifying. It is argued that there is no simple relationship between womens genetic risk and their subsequent reproductive actions. Of more significance is the womens prior biographical experience, their interpretation of the information available to them, their definition of the situation, and their reproductive expectations. Genetic risk information, transmitted in the genetic counselling discourse, does not determine womens actions, which are accounted for in terms of an interpretative perspective.

Psychosocial issues in newborn screening for cystic fibrosis

Newborn screening for cystic fibrosis remains controversial because there is still little agreement that prophylactic interventions provide substantial long-term benefits. In such situations, where there are some medical benefits and the costs are not prohibitive, it is important to consider the psychosocial implications of screening. This paper reviews the evidence on the psychosocial issues raised by newborn screening for cystic fibrosis, in particular the issues of parental attitudes to screening, the evidence from families with an affected infant, the evidence from families with a carrier infant and the lessons for service delivery.

Newborn screening for Duchenne muscular dystrophy

Duchenne muscular dystrophy is a lethal X-linked disease affecting males who then rarely survive beyond 20 years. The primary aim of world-wide newborn screening programmes for this disease is not to directly benefit the affected boy, but to enable choice in future pregnancies for the boys family. There may be secondary advantages for the management of the boy. Data from seven international centres are presented (over 1.2 million boys have now been tested) and psychosocial evidence about attitudes and outcomes in Wales.

Professional constructions of family and kinship in medical genetics

Based on a period of ethnographic fieldwork among geneticists, the paper explores how clinicians and scientists construct families as objects of discourse. It documents how the family is constructed as a social object and as a set of biological relationships. The professional work of geneticists thus traverses the boundaries of the natural and the social. The pedigree, or family tree, is a boundary object between those two discursive domains.

Development of an audit tool for genetic services

Rapid growth in demand and altered professional roles have produced changes in the delivery of genetic services over the past decade, but these have not been rigorously evaluated because of the paucity of appropriate audit tools. The aim of this study was to use clients accounts and factor analysis to develop a robust assessment and audit tool. Qualitative data abstracted from several published studies were used to generate a number of statements related to outcomes of genetic services. A total of 57 statements were incorporated into a questionnaire. The questionnaire was mailed to clients of the Wales genetic service (nu2009=u2009133) who had completed their episode of care. Respondents were asked to rank each statement on a seven‐point Likert type scale. Responses were subjected to factor analysis. A total of 97 anonymized responses were received (73% response rate). Six main factors were found to contribute to the outcome of the service from the clients perspective. These were labeled (i) enhanced understanding, (ii) positive psychological change, (iii) respect for autonomy, (iv) adaptation, (v) disequilibirium, and (vi) value of contact. The audit tool has now been refined for use in evaluating genetic services. Questions are included to investigate the six outcome areas shown to be relevant from the clients perspective. Data from the next phase of the study will be analyzed to validate the tool for use in both clinical audit and research contexts.

Genetic Testing Considerations in Breast Cancer Patients

Genetic testing is now feasible for a growing number of cancers. Although the implications for unaffected relatives have been widely described, the impact of the tests on affected individuals are often not recognized. We present and discuss four cases that highlight some of the issues—for example, feelings of guilt and anxiety, intrafamilial conflict, and support needs—that may arise in testing affected individuals. We offer some suggestions to aid in the approach to such testing.

The Career of a Medical Discovery

Myotonic Dystrophy is the most common form of adult muscular dystrophy and is characterized by muscle wasting and weakness. In 1991, the disease gene was cloned and sequenced by scientists in Cardiff, London, and else-where overseas. Whereas most studies of scientific breakthrough stop at the point of the discovery, this article describes research that explored scientists accounts of the career of that breakthrough, tracing the research within the specialty of molecular biology and the translation of the research into the service setting. Three main analytic themes are explored: the predictability of the discovery and its mediation by issues of skill and serendipity; the dialectical nature of competition and collaboration; and the career dynamics of the research group and the scientists who composed that group.

4. The rhetoric of prediction and chance in the research to clone a disease gene

Les AA. analysent la rhetorique du discours medical concernant la decouverte du gene responsable de la dystrophie myotonique. Ils sinteressent plus particulierement aux predictions qui tendent a affirmer limminence de cette decouverte. Ils presentent un certain nombre de donnees collectees, entre 1992 et 1993, dans un laboratoire de recherche de lUniversity of Wales College of Medicine de Cardiff dans le cadre duquel des chercheurs etudient cette maladie. Ils montent de quelle maniere les decouvertes sont confirmees experimentalement. Ils analysent comment les chercheurs rendent compte de leurs decouvertes