The nosological diagnosis is a particular type of nontheoretical diagnosis consisting of identifying the disease that afflicts the patient without explaining the underlying etiopathological mechanisms. Its origins are within the essentialist point of view on the nature of diseases, which dates back at least to 18th-century taxonomy studies. In this article, we propose a model of nosological diagnosis as a two-phase process composed of the categorization of inductive inferences and argumentations by analogy. In the inductive phase, disease entities are identified (...) by means of typicality-based categorization processes, and meaningful clinical samples are learned (abstract clinical cases, i.e., syndromes and actual cases); in the subsequent phase, those samples are used as the bases of argumentations by analogy to obtain a diagnosis for a given patient. This model extends the prototype resemblance theory of disease including also the exemplar theory proposed in cognitive science and, moreover, it frames the clinical activity of nosological diagnosis and how it can be explained within the theory of argumentation. According to it, diagnosis based on the recognition of a typical syndrome is explained in terms of the prototype theory of categorization and the antisymmetrical argumentation by analogy, while diagnosis based on a comparison with a previous clinical case is explained by the exemplar theory of categorization and by the symmetrical argumentation by analogy. (shrink)

While aging research and policy aim to promote ‘health’ at all ages, there remains no convincing explanation of what this ‘health’ is. In this paper, I investigate whether we can find, implicit within the sciences of aging, a way to know what health is and how to measure it, i.e. a theory of health. To answer this, I start from scientific descriptions of aging and its modulators and then try to develop some generalizations about ‘health’ implicit within this research. After (...) discussing some of the core aspects of aging and the ways in which certain models describe spatial and temporal features specific to both aging and healthy phenotypes, I then extract, explicate, and evaluate one potential construct of health in these models. This suggests a theory of health based on the landscape of optimized phenotypic trajectories. I conclude by considering why it matters for more candidate theories to be proposed and evaluated by philosophers and scientists alike. (shrink)

The concepts of disease, illness and sickness capture fundamentally different aspects of phenomena related to human ailments and healthcare. The philosophy and theory of medicine are making manifold efforts to capture the essence and normative implications of these concepts. In parallel, socio-empirical studies on patients’ understanding of their situation have yielded a comprehensive body of knowledge regarding subjective perspectives on health-related statuses. Although both scientific fields provide varied valuable insights, they have not been strongly linked to each other. Therefore, the (...) article aims to scrutinise the normative-ethical implications of patient perspectives in building a bridge to the empirical ethics debates. Three potential fields of tension between the illness and the disease perspective are presented. Consequently, findings from empirical research examining patient perspectives on illness are displayed and the practical implications and associated ethical issues which arise are discussed. This leads to the conclusion that an explicit and elaborate empirical-ethical methodology is needed to deal appropriately with the complex interaction between patients’ views and the medico-professional view of disease. Kon’s four-stage model of normative-empirical collaboration is then applied against the background of empirical data on patient perceptions. Starting from this exemplary approach, the article suggests employing empirical-ethical frameworks for further research on the conceptual and normative issues, as they help to integrate perspectives from the philosophy of medicine with socio-empirical research. The combination of theoretical and empirical perspectives suggested contributes to a more nuanced discussion of the normative impact of patients’ actual understanding of illness. Further empirical research in this area would profit from explicitly considering potential ethical issues to avoid naturalistic fallacies or crypto-normative conclusions that may compromise healthcare practice. Vice versa, medico-theoretical debates could be enriched by integrating subjective views of those people who are immediately affected. (shrink)

As it emerged from philosophical analyses and cognitive research, most concepts exhibit typicality effects, and resist to the efforts of defining them in terms of necessary and sufficient conditions. This holds also in the case of many medical concepts. This is a problem for the design of computer science ontologies, since knowledge representation formalisms commonly adopted in this field do not allow for the representation of concepts in terms of typical traits. However, the need of representing concepts in terms of (...) typical traits concerns almost every domain of real world knowledge, including medical domains. In particular, in this article we take into account the domain of mental disorders, starting from the DSM-5 descriptions of some specific mental disorders. On this respect, we favor a hybrid approach to the representation of psychiatric concepts, in which ontology oriented formalisms are combined to a geometric representation of knowledge based on conceptual spaces. (shrink)

New technologies facilitate the enhancement of a wide range of human dispositions, capacities, or abilities. While it is argued that we need to set limits to human enhancement, it is unclear where we should find resources to set such limits. Traditional routes for setting limits, such as referring to nature, the therapy-enhancement distinction, and the health-disease distinction, turn out to have some shortcomings. However, upon closer scrutiny the concept of enhancement is based on vague conceptions of what is to be (...) enhanced. Explaining why it is better to become older, stronger, and more intelligent presupposes a clear conception of goodness, which is seldom provided. In particular, the qualitative better is frequently confused with the quantitative more. We may therefore not need “external” measures for setting its limits – they are available in the concept of enhancement itself. While there may be shortcomings in traditional sources of limit setting to human enhancement, such as nature, therapy, and disease, such approaches may not be necessary. The specification-of-betterment problem inherent in the conception of human enhancement itself provides means to restrict its unwarranted proliferation. We only need to demand clear, sustainable, obtainable goals for enhancement that are based on evidence, and not on lofty speculations, hypes, analogies, or weak associations. Human enhancements that specify what will become better, and provide adequate evidence, are good and should be pursued. Others should not be accepted. (shrink)

Overdiagnosis and disease are related concepts. Widened conceptions of disease increase overdiagnosis and vice versa. This is partly because there is a close and complex relationship between disease and overdiagnosis. In order to address the problems with overdiagnosis, we may benefit from a closer understanding this relationship. Accordingly, the objective of this article is to elucidate the relationship between disease and overdiagnosis. To do so, the article starts with scrutinizing how overdiagnosis can explain the expansion of the concept of disease. (...) Then it investigates how definitions of disease address various challenges of overdiagnosis. The article specifically investigates recent attempts to clarify the relationship between the concepts of disease and overdiagnosis. Several shortcomings are identified and lead to a closer analysis of overdiagnosis in the diagnostic process. Contrary to recent contributions to the field, it is argued that cases of overdiagnosis are not cases of disease. They are non-verified labelling of disease. It is revealed how overdiagnosis establishes an unwarranted link between indicative phenomena, such as polyps or cell changes, and harm, and thereby generates a link to disease. One implication of this study is that we should stop attributing disease language to indicative phenomena. That is, we should stop calling it “cancer screening” when we are actually searching for polyps. Another implications is that we should strive for scientific progress in differentiating phenomena that are of negative value to us from those that are not. In overdiagnosis we diagnose something that is not disease: it is over-diagnosis. (shrink)

In the present paper, we shall discuss the notion of prototype and show its benefits. First, we shall argue that the prototypes of common-sense concepts are necessary for making prompt and reliable categorisations and inferences. However, the features constituting the prototype of a particular concept are neither necessary nor sufficient conditions for determining category membership; in this sense, the prototype might lead to conclusions regarded as wrong from a theoretical perspective. That being said, the prototype remains essential to handling most (...) ordinary situations and helps us to perform important cognitive tasks. To exemplify this point, we shall focus on disease concepts. Our analysis concludes that the prototypical conception of disease is needed to make important inferences from a practical and clinical point of view. Moreover, it can still be compatible with a classical definition of disease, given in terms of necessary and sufficient conditions. In the first section, we shall compare the notion of stereotype, as it has been introduced in philosophy of language by Hilary Putnam, with the notion of prototype, as it has been developed in the cognitive sciences. In the second section, we shall discuss the general role of prototypical information in cognition and stress its centrality. In the third section, we shall apply our previous discussion to the specific case of medical concepts, before briefly summarising our conclusions in section four. (shrink)

Recently, concerns have been raised about the phenomenon of ‘overdiagnosis’, the diagnosis of a condition that is not causing harm, and will not come to cause harm. Along with practical, ethical, and scientific questions, overdiagnosis raises questions about our concept of disease. In this paper, we analyse overdiagnosis as an epistemic problem and show how it challenges many existing accounts of disease. In particular, it raises ques- tions about conceptual links drawn between disease and dysfunction, harm, and risk. We argue (...) that ‘disease’ should be considered a vague concept with a non-classical structure. On this view, overdiagnosed cases are ‘borderline’ cases of disease, falling in the zone between cases that are clearly disease, and cases that are clearly not disease. We then develop a pre ́cising definition of disease designed to provide practical help in preventing and limiting overdiagnosis. We argue that for this purpose, we can define disease as dysfunction that has a significant risk of causing severe harm to the patient. (shrink)

Phenomenological analyses of ageing and old age have examined themes such as alterity, finitude, and time, not seldom from the perspective of “healthy” aging. Phenomenologists have also offered detailed analyses of lived experiences of illness including lived experiences of dementia. This article offers a phenomenological account of what we label as entering the grey zone of aging between “healthy” aging and aging with a disease. This account is developed through a qualitative phenomenological philosophy analysis of elderly persons’ lived experiences of (...) being tested for dementia through primary care in Sweden, i.e., within a cultural context where dementia commonly is understood as a frightening a loss of self even though this understanding also is questioned. To enter this grey zone of aging, we argue, does not dissolve dynamic self-becoming but can involve an experience of oneself as being old. Further, in the grey zone, the self experiences itself as neither fully healthy nor as having a disease, and as needing to negotiate and live this ambiguity. To enter this grey zone is to enter an affectively charged, sociocultural and medicalized zone, and while the self can still act in different ways within it, staying in the grey zone can result in a re-orientation in the self’s mode of being, in ways that are thoroughly beyond its control. To stay in the grey zone can have detrimental effects on the self, even though the self does not have a disease: the self can become “stuck” in a reflective mode of attending to embodiment, aging, health, and disease. (shrink)

The growing use of genetic tests in medical practice has a strong influence on some widespread notions of health and unhealth. Two consequences of this phenomenon are: (i) important changes in the meaning of these current notions and, therefore, (ii) the arrival of a new taxonomy or rearrangement for the so-called “health-concepts”. This paper attempts to demonstrate that both facts fuel a theoretical change that might be considered a model of scientific Kuhnean change in a fundamental aspect. On the other (...) hand, this theoretical shift process offers the basis for approaching a present-day controversy, i.e. whether Western society is going through a period of geneticization or not, from a new perspective. (shrink)

In a previous paper the concept of disease was fuzzy-logically analyzed and a sketch was given of a prototype resemblance theory of disease (Sadegh-Zadeh (2000). J. Med. Philos., 25:605–38). This theory is outlined in the present paper. It demonstrates what it means to say that the concept of disease is a nonclassical one and, therefore, not amenable to traditional methods of inquiry. The theory undertakes a reconstruction of disease as a category that in contradistinction to traditional views is not based (...) on a set of common features of its members, that is individual diseases, but on a few best examples of the category, called its prototypes, and a similarity relationship such that a human condition is considered a disease if it resembles a prototype. It enables new approaches to resolving many of the stubborn problems associated with the concept of disease. (shrink)

Biological dysfunction is regarded, in many accounts, as necessary and perhaps sufficient for disease. But although disease is conceptualized as all-or-nothing, biological functions often differ by degree. A tension is created by attempting to use a continuous variable as the basis for a categorical definition, raising questions about how we are to pinpoint the boundary between health and disease. This is the line-drawing problem. In this paper, we show how the line-drawing problem arises within “dysfunction-requiring” accounts of disease, such as (...) those of Christopher Boorse and Jerome Wakefield. We then provide several detailed examples to establish that biological dysfunction cannot provide a boundary. We examine potential ways of resolving the line-drawing problem, either by dropping one of the claims that generates it, or by appealing to additional criteria. We argue that two of these options are plausible, and that each of these can be applied with regard to different diseases. (shrink)

This article investigates five kinds of vagueness in medicine: disciplinary, ontological, conceptual, epistemic, and vagueness with respect to descriptive-prescriptive connections. First, medicine is a discipline with unclear borders, as it builds on a wide range of other disciplines and subjects. Second, medicine deals with many indistinct phenomena resulting in borderline cases. Third, medicine uses a variety of vague concepts, making it unclear which situations, conditions, and processes that fall under them. Fourth, medicine is based on and produces uncertain knowledge and (...) evidence. Fifth, vagueness emerges in medicine as a result of a wide range of fact-value-interactions. The various kinds of vagueness in medicine can explain many of the basic challenges of modern medicine, such as overdiagnosis, underdiagnosis, and medicalization. Even more, it illustrates how complex and challenging the field of medicine is, but also how important contributions from the philosophy can be for the practice of medicine. By clarifying and, where possible, reducing or limiting vagueness, philosophy can help improving care. Reducing the various types of vagueness can improve clinical decision-making, informing individuals, and health policy making. (shrink)

Health and disease are core concepts in health care and have attracted substantial interest and controversy. In recent and interesting contributions to the debate it has been argued that the challenges with the concept of disease can be resolved by a prototype concept of disease. As a robin is a more prototypical of a bird than a penguin, some diseases are more prototypical than others. If disease is a prototype concept, it would change nosology, but also health care and the (...) study of health and disease. However, the statement that “disease is a prototype concept” forms an empirically testable hypothesis. Therefore, this study aims to test the hypothesis that health professionals have a prototype concept of disease. Two hundred twenty-three health care professionals in Norway were invited to participate in a survey where they were asked to rank a wide range of diseases according to how typical they considered them to be as diseases. Results were analysed with descriptive statistics. The response rate was 90%. Lung cancer, leukemia, colon cancer, myocardial infarction, and AIDS are the diseases ranged to be most typical, while homosexuality, pregnancy, drapetomania, dissidence, and nostalgia are considered to be the least typical diseases. The results also show that the answers to how typical various diseases are vary greatly, even amongst a relatively homogenous group of health professionals. This study falsifies the hypothesis that disease is a prototype concept for health professionals. This has implications for the debate on core concepts for health care. If health professionals do not have a prototype concept of disease, it is unlikely that there is a prototype concept of disease in general. Consequently, nosologies should not be based on prototypes. (shrink)

In this article, I side with those who argue that the debate about the definition of “disease” should be reoriented from the question “what is disease” to the question of what it should be. However, I ground my argument on the rejection of the naturalist approach to define disease and the adoption of a normativist approach, according to which the concept of disease is normative and value-laden. Based on this normativist approach, I defend two main theses: (1) that conceptual analysis (...) is not the right method to define disease and that conceptual engineering should be the preferred method and (2) that the method of conceptual engineering should be implemented following the principles of Alexandrova’s account of social objectivity in the context of the definition of disease. (shrink)

As it emerged from philosophical analyses and cognitive research, most concepts exhibit typicality effects, and resist to the efforts of defining them in terms of necessary and sufficient conditions. This holds also in the case of many medical concepts. This is a problem for the design of computer science ontologies, since knowledge representation formalisms commonly adopted in this field (such as, in the first place, the Web Ontology Language - OWL) do not allow for the representation of concepts in terms (...) of typical traits. The need of representing concepts in terms of typical traits concerns almost every domain of real world knowledge, including medical domains. In particular, in this article we take into account the domain of mental disorders, starting from the DSM-5 descriptions of some specific disorders. We favour a hybrid approach to concept representation, in which ontology oriented formalisms are combined to a geometric representation of knowledge based on conceptual space. As a preliminary step to apply our proposal to mental disorder concepts, we started to develop an OWL ontology of the schizophrenia spectrum, which is as close as possible to the DSM-5 descriptions. (shrink)

The vagueness or imprecision of ‘the normal’ allows it to be exploited for various purposes and political ends. It is conspicuous in both medicine and athletics; I am going to try to say something about the normal in each of these areas. In medicine the idea of the normal is often deployed in understanding what constitutes disease and hence, as some see it, in determining the role of physicians, in determining what is or ought to be covered by insurance, and (...) in underwriting certain views on social justice. In athletics the use of performance enhancing substances raises different sorts of questions about the normal, especially when it comes to deciding what constitutes an enhancement and which enhancements, if any, are acceptable. (shrink)