The article reconsiders the nature and location of science in the development of genetic classification. Drawing on field studies of medical genetics, we explore how patient categorization is accomplished in between the clinic and laboratory. We focus on dysmorphology, a specialism concerned with complex syndromes that impair physical development. We show that dys-morphology is about more than fitting patients into prefixed diagnostic categories and that diagnostic process is marked by moments of uncertainty, ambiguity, and deferral. We describe how different forms (...) of evidence are brought into play and how patterns of physical features are identified as genetic or not. We suggest that clinical categorical work helps articulate the genetic as an emergent domain of medical classification and that moments of ambiguity and deferral create an imperative space that helps legitimate the need for more technoscience, and consequently, more clinical judgment with which to fix the genetic future. (shrink)

“Excited Delirium Syndrome” (ExDS) is a controversial diagnosis. The supposed syndrome is sometimes considered to be a potential cause of death. However, it has been argued that its sole purpose is to cover up excessive police violence because it is mainly used to explain deaths of individuals in custody. In this paper, we examine the epistemic conditions giving rise to the controversial diagnosis by discussing the relation between causal hypotheses, evidence, and data in forensic medicine. We argue that the practitioners’ (...) social context affects causal inquiry through background assumptions that enter inquiry at multiple stages. This analysis serves to better understand the wide usage of the controversial diagnosis of ExDS. (shrink)

Biomarkers are widely used not only as prognostic or diagnostic indicators, or as surrogate markers of disease in clinical trials, but also to formulate theories of pathogenesis. We identify two problems in the use of biomarkers in mechanistic studies. The first problem arises in the case of multifactorial diseases, where different combinations of multiple causes result in patient heterogeneity. The second problem arises when a pathogenic mediator is difficult to measure. This is the case of the oxidative stress (OS) theory (...) of disease, where the causal components are reactive oxygen species (ROS) that have very short half-lives. In this case, it is usual to measure the traces left by the reaction of ROS with biological molecules, rather than the ROS themselves. Borrowing from the philosophical theories of signs, we look at the different facets of biomarkers and discuss their different value and meaning in multifactorial diseases and system medicine to inform their use in patient stratification in personalized medicine. (shrink)

The long ongoing and partly heated debate on the concept of disease has not led to any consensus on the status of this apparently essential concept for modern health care. The arguments range from claims that the disease concept is vague, slippery, elusive, or complex, and to statements that the concept is indefinable and unnecessary. The unsettled status of the concept of disease is challenging not only to health care where diagnosing, treating, and curing disease are core aims, but also (...) to the branch of philosophy that tries to clarify concepts. This article discusses three claims about the concept of disease: that it is vague, complex, and that it is indefinable. It investigates (a) what is meant by these claims (b) what their implications are, and (c) whether the claims are sound or not. It is argued that some of the arguments are flawed and miss important points about concept analysis. This does not mean, however, that disease is a clear concept with a crisp definition. It only rules out speculative claims that disease necessarily is vague, complex, and indefinable. It appears at least as hard to show that disease is indefinable as it is to define it. (shrink)

The basic work for this book was carried out during the spring of 1989 in Edinburgh, where I had been granted a research position at The Institute for Advanced Studies in the Humanities. I should like to express here my indebtedness to the Institute for the opportunity thus afforded me. I should also like to say how very grateful I am for the stimulating conversations I had there with Professor Timothy Sprigge and Dr. Elizabeth Telfer. Dr. Telfers’s own treatise Happiness (...) has been a major influence on my view of the questions involved. The basic view of health and illness presented in this book is more fully set out in my On the Nature of Health. As in the case of my previous larger projects, I have received a great amount of support and may wise comments from Professor Ingmar Pörn, Helsinki. Three Danish experts – Anton Aggernaes, Erik Ostenfeld and Peter Sandøe – have made valuable comments. Professor Heng ten Have, Nijmegen, has improved my reading of the philosophy of Jeremy Bentham. I should also like to thank my colleagues at the Department of Health and Society, University of Linköping, for helping me to avoid a number of the pitfalls that can so easily stumble into when it comes to a treatise like this. Especially I should like to mentioned Per-Erik Liss, Ingemar Nordin and Bo Petersson, all three of whom have read and commented on the entire manuscript. A Swedish version of this book, Livskvalitet och hälsa, came out in 1991. I have been made quite a number of corrections and additions, one type of addition being replies to critical points made in reviews of the Swedish version. I should like to thank Malcolm Forbes for valuable help putting my English into publishable condition. Linköping, May 1993 Lennart Noredenfelt. (shrink)

This paper argues that Adolf Gr nbaum's evaluation of the scientific status of psychoanalysis is marred by its failure to locate Freud's notion of natural science. Contrary to his claims, Griinbaum does not assess Freud's theory on Freud's own terms. The presuppositions that Griinbaum brings to the question of the scientific status of psychoanalysis are problematic and his criticisms and methodological restrictions may not be defensible when psychoanalysis is taken to develop methodologically out of medical science rather than out of (...) physics. I question the adequacy of the epistemological and methodological norms that Griinbaum brings to his analysis and I examine his arguments against the scientific credibility of Freud's theoretical claims. I argue that Griinbaum fails to consider the tension between clinical practice and psychoanalytic theory, ignores the evolution of Freud's thought and distorts and simplifies the complexity of the domain under investigation. Therefore his conclusions regarding the scientific credibility and evaluation of psychoanalysis are questionable. (shrink)