Although health and disease occupy opposite ends of a spectrum, distinguishing between them can be difficult. This is the “line-drawing” problem. The papers in this special issue engage with this challenge of delineating the boundaries of disease. The authors explore different views as to where the boundary between disease and nondisease lies, and related questions, such as how we can identify, or decide, what counts as a disease and what does not; the nature of the boundary between the two categories; (...) and what sorts of considerations could justify the location of that boundary. In exploring these questions, the papers draw on detailed clinical examples, provide theoretical critiques of existing approaches to disease definition, and offer new ways to conceptualize key features in debates about disease, including harm and biological dysfunction. (shrink)

An increasing number of patients receive diagnoses of disease without having any symptoms. These include diseases detected through screening programs, as incidental findings from unrelated investigations, or via routine checks of various biological variables like blood pressure or cholesterol. In this article, we draw on narrative identity theory to examine how the process of making sense of being diagnosed with asymptomatic disease can trigger certain overlooked forms of harm for patients. We show that the experience of asymptomatic disease can involve (...) ‘mismatches’ between one’s beliefs about one’s health status on the one hand, and bodily sensations or past experience on the other. Patients’ attempts to integrate these diagnoses into their self-narratives often involve either forming inaccurate beliefs about bodily sensations and/or past experience, or coming to believe that feelings and experience do not necessarily track or predict health status, leading to an ongoing sense of vulnerability to ill health. These resulting alterations in self-understanding can sometimes be considered harmful, in view of their implications for ascriptions of responsibility and ongoing anxiety. (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)

Many healthcare practices expose people to risks of harmful outcomes. However, the major theories of moral philosophy struggle to assess whether, when and why it is ethically justifiable to expose individuals to risks, as opposed to actually harming them. Sven Ove Hansson has proposed an approach to the ethical assessment of risk imposition that encourages attention to factors including questions of justice in the distribution of advantage and risk, people’s acceptance or otherwise of risks, and the scope individuals have to (...) influence the practices that generate risk. This paper investigates the ethical justifiability of preventive healthcare practices that expose people to risks including overdiagnosis. We applied Hansson’s framework to three such practices: an ‘ideal’ breast screening service, a commercial personal genome testing service, and a guideline that lowers the diagnostic threshold for hypertension. The framework was challenging to apply, not least because healthcare has unclear boundaries and involves highly complex practices. Nonetheless, the framework encouraged attention to issues that would be widely recognised as morally pertinent. Our assessment supports the view that at least some preventive healthcare practices that impose risks including that of overdiagnosis are not ethically justifiable. Further work is however needed to develop and/or test refined assessment criteria and guidance for applying them. (shrink)

Breast cancer screening aims to help women by early identification and treatment of cancers that might otherwise be life-threatening. However, breast cancer screening also leads to the detection of some cancers that, if left undetected and untreated, would not have damaged the health of the women concerned. At the time of diagnosis, harmless cancers cannot be identified as non-threatening, therefore women are offered invasive breast cancer treatment. This phenomenon of identifying non-harmful cancers is called overdiagnosis. Overdiagnosis is morally problematic as (...) it leads to overall patient harm rather than benefit. Further, breast cancer screening is offered in a context that exaggerates cancer risk and screening benefit, minimises risk of harm and impedes informed choice. These factors combine to create pathogenic vulnerability. That is, breast cancer screening exacerbates rather than reduces women’s vulnerability and undermines women’s agency. This paper provides an original way of conceptualising agency-supporting responses to the harms of breast cancer overdiagnosis through application of the concept of pathogenic vulnerability. (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)

Boorse’s biostatistical theory states that diseases should be defined in ways that reflect disturbances of biological function and that are objective and value free. We use three examples from contemporary medicine that demonstrate the complex issues that arise when defining the boundaries of disease: polycystic ovary syndrome, chronic kidney disease, and myocardial infarction. We argue that the biostatistical theory fails to provide sufficient guidance on where the boundaries of disease should be drawn, contains ambiguities relating to choice of reference class, (...) and is out of step with medical processes for identifying disease boundaries. Although proponents of the biostatistical theory might regard these practical issues as irrelevant to the aim of providing a theoretical account of disease, we take them to indicate the need for a theoretical account that is adequate for current needs—including limiting new forms of medicalization that are driven by the identification of disease based on dysfunction. Our processes for determining the boundaries for disease need to recognize that there is no value-free method for making these decisions. (shrink)

Overdiagnosis is an emerging problem in health policy and practice: we address its definition and ethical implications. We argue that the definition of overdiagnosis should be expressed at the level of populations. Consider a condition prevalent in a population, customarily labelled with diagnosis A. We propose that overdiagnosis is occurring in respect of that condition in that population when the condition is being identified and labelled with diagnosis A in that population ; this identification and labelling would be accepted as (...) correct in a relevant professional community; but the resulting label and/or intervention carries an unfavourable balance between benefits and harms. We identify challenges in determining and weighting relevant harms, then propose three central ethical considerations in overdiagnosis: the extent of harm done, whether harm is avoidable and whether the primary goal of the actor/s concerned is to benefit themselves or the patient, citizen or society. This distinguishes predatory, misdirected and tragic overdiagnosis; the degree of harm moderates the justifiability of each type. We end with four normative challenges: methods for adjudicating between professional standards and identifying relevant harms and benefits should be procedurally just; individuals, organisations and states are differently responsible for addressing overdiagnosis; overdiagnosis is a matter for distributive justice: the burdens of both overdiagnosis and its prevention could fall on the least-well-off; and communicating about overdiagnosis risks harming those unaware that they may have been overdiagnosed. These challenges will need to be addressed as the field develops. (shrink)

Dans le diagnostic du cancer, la précocité du diagnostic est généralement un élément valorisé. Selon la croyance commune, un cancer détecté tôt aura plus de chance d’être traitable. Or, cette conception des avantages du diagnostic précoce mène dans certains cas au phénomène de surdiagnostic, soit le fait de diagnostiquer un cancer à des individus qui n’en ont pas encore un et qui sont potentiellement en voie de le développer. Dans cet article, nous défendrons d’abord que le phénomène de surdiagnostic est (...) lié en majeure partie à notre connaissance grandissante du cancer, et au fait que ces nouvelles connaissances causent des biais dans les processus de dépistage, conduits en vue de trouver un cancer. Afin de remédier à cette problématique, nous tenterons de montrer que le fait de simplement modifier notre approche du cancer et le vocabulaire médical associé permettrait de réduire les cas de surdiagnostics. (shrink)