Complex diseases involve both a genetic component and a response to environmental factors or lifestyle changes. Recently, genome-wide association studies (GWAS) have succeeded in identifying hundreds of polymorphisms that are statistically associated with complex diseases. However, the association is usually weak and none of the associated allelic forms is either necessary or sufficient for the disease occurrence. We argue that this promotes a network view, centred on functional redundancy. We adapted reliability theory to the concerned sub-network, modelled (...) as a parallel array of functional modules. In our model, as long as one module remains active, the function correlated with the respective disease is ensured and disease does not occur. Genetic factors reduce the initial number of available modules while environment, contingent surroundings, personal history, epigenetics, and some intrinsic stochasticity influence their persistence time. This model reproduces age-specific incidence curves and explains the influence of environmental changes. It offers a new paradigm, according to which disease occurs due to a lack of functional elements, depending on many idiosyncratic factors. Genetic risk assessed from GWAS is only a statistical notion with no direct interpretation at the individual level. However, genomic profiling could be useful at population level in devising models to guide decisions in health care policy. (shrink)

Diseases of complex origin have a component of quantitative genetics that contributes to their susceptibility and phenotypic variability. However, after several studies, a major part of the genetic component of complex phenotypes has still not been found, a situation known as “missing heritability.” Although there have been many hypotheses put forward to explain the reasons for the missing heritability, its definitive causes remain unknown. Complex diseases are caused by multiple intermediate phenotypes involved in their pathogenesis and, very (...) often, each one of these intermediate phenotypes also has a component of quantitative inheritance. Here we propose that at least part of the missing heritability can be explained by the genetic component of intermediate phenotypes that is not detectable at the level of the main complex trait. At the same time, the identification of the genetic component of intermediate phenotypes provides an opportunity to identify part of the missing heritability of complex diseases. (shrink)

The interactions between genetic and environmental risk factors contribute to the aetiology of complex human diseases. Genome‐wide association studies (GWAS) have revealed that most of the genetic variants associated with complex diseases are located in the non‐coding part of the genome, preferentially within enhancers. Enhancers are distal cis‐regulatory elements composed of clusters of transcription factors binding sites that positively regulate the expression of their target genes. The generation of genome‐wide maps for histone marks (e.g., H3K27ac), chromatin accessibility and (...) transcription factor and coactivator (e.g., p300) binding profiles have enabled the identification of enhancers across many human cell types and tissues. Nonetheless, the functional and pathological consequences of the majority of disease‐associated genetic variants located within enhancers seem to be rather minor under normal conditions, thus questioning their medical relevance. Here we propose that, due to the prevalence of enhancer redundancy, the pathological effects of many disease‐associated non‐coding genetic variants might be preferentially (or even only) manifested under environmental stress. (shrink)

The study examined the knowledge and attitudes to personal genomics testing for complex diseases among Nigerians and identified how the knowledge and attitudes vary with gender, age, religion, education and related factors.

The major challenge in complex disease genetics is to understand the fundamental features of this complexity and why functional alterations at multiple independent genes conspire to lead to an abnormal phenotype. We hypothesize that the various genes involved are all functionally united through gene regulatory networks (GRN), and that mutant phenotypes arise from the consequent perturbation of one or more rate‐limiting steps that affect the function of the entire GRN. Understanding a complex phenotype thus entails unraveling the (...) details of each GRN, namely, the transcription factors that bind to cis regulatory elements affected by sequence variants altering transcription of specific genes, and their mutual feedback relationships. These GRNs can be identified through their rate‐limiting steps and are best uncovered by genomic analyses of rare, extreme phenotype families, thus providing a coherent molecular basis to complex traits and disorders. (shrink)

The concept of disease has been the subject of a vast, vivid and versatile debate. Categories, such as "realist", "nominalist", "ontologist", "physiologist", "normativist" and "descriptivist", have been applied to classify disease concepts. These categories refer to underlying theoretical frameworks of the debate. The objective of this review is to analyze these frameworks. It is argued that the categories applied in the debate refer to profound philosophical issues, and that the complexity of the debate reflects the complexity of the (...) concept itself: disease is a complex concept, and does not easily lend itself to definition. (shrink)

Cardiovascular disease (CVD) and sustained high blood glucose as prediabetes are an established comorbidity. People's experience in reconciling these long‐term conditions requires deeper appreciation if nurses are to more effectively support person‐centred care for people who have them. Our analysis explores the initial experience of people admitted to hospital with CVD who then find they also have sustained high blood glucose. Our methodology is informed by the philosophy of Gadamer and applies interpretive description to develop an interpretation of participant (...) experiences. The major theme emerging from participant interviews was the ‘invisible disequilibrium’ characterised by three subthemes: ‘losing equilibrium’, ‘becoming embattled’ and ‘evolving illness’. This study examines CVD and prediabetes in conjunction with the Gadamerian notion of the ‘whole’, as being in a social and emotional world in which illness is also a component part. We explore how participants lived within an ‘invisible disequilibrium’, with prediabetes frequently remaining unnoticed, while CVD was manifest. To identify multiple conditions and support effective intervention to manage them as part of person‐centric care, nursing practice should explore the ‘whole’ of the person's experience, value people’s knowledge as potential indicators of complex illness, thereby reducing the risk of accelerating complex illness. (shrink)

The concept of disease has been the subject ofa vast, vivid and versatile debate. Categoriessuch as ``realist'', ``nominalist'', ``ontologist'',``physiologist'', ``normativist'' and``descriptivist'' have been applied to classifydisease concepts. These categories refer tounderlying theoretical frameworks of thedebate. The objective of this review is toanalyse these frameworks. It is argued that thecategories applied in the debate refer toprofound philosophical issues, and that thecomplexity of the debate reflects thecomplexity of the concept itself: disease is acomplex concept, and does not easily lenditself to (...) definition. (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 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 what is meant by these claims, what their implications are, and 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)

This paper examines some criticisms that have been made of two standard genetic methodologies: heritability and path analysis. I conclude that the criticisms should be taken seriously, concerning both the accuracy of heritability measures and their significance. In light of the fact that such studies remain prominent in the literature, I consider what possible rationale they can retain consistent with these criticisms. In particular, I consider (1) a role in the identification of high-risk individuals and (2) a heuristic role in (...) the planning of research strategy. (shrink)

Recent scholarship in medical humanities has expressed strong concern over the ability of pharmaceuticals companies to medicalize discomfort and subsequently invent diseases. In this article, I explore the clinical debates over the ontology of the sinus headache as a possible counter-case. Extending Foucault’s concept of principles or rarefaction, this paper documents the efforts of clinicians to resist the pharmaceutically-provided understanding of the sinus headache. In so doing, it offers institutions of rarefaction and rarefactive assemblages as useful heuristics for the exploration (...) of disease legitimization discourse. (shrink)

Ausgehend von Kleinmans Differenzierung des Krankheitsbegriffs in disease, illness und sickness und der Unterscheidung von Krankheit und Behinderung durch die Weltgesundheitsorganisation wird am Beispiel von Aufmerksamkeitsstörungen untersucht, welche Zusammenhänge zwischen den beiden Konzeptionen, Krankheit und Behinderung, bestehen. Hierbei wird gefragt, ob und wie Kleinmans Differenzierung des Krankheitsbegriffs auf den Behinderungsbegriff übertragen werden kann und wie eine Modifizierung produktiv für das Verständnis konkreter Syndrome genutzt werden kann. Während die WHO seit 1980 Behinderung von Krankheit auch per Klassifikation unterscheidet, ist der (...) Bereich chronischer Erkrankungen und psychischer sowie kognitiver Syndrome nicht eindeutig verortet. Dies zeigt sich u. a. daran, dass Intelligenzminderungen und Aufmerksamkeitsstörungen (als spezielle Form hyperkinetischer Störungen) sowohl medizinisch mit der ICD-10 (als Krankheitsklassifikation) diagnostiziert als auch mit der Behinderungsklassifikation der WHO, der Internationalen Klassifikation von Funktionsfähigkeit, Behinderung und Gesundheit (ICF), klassifiziert werden können. Im Gegensatz zur ICD lassen sich die Syndrome mit der ICF differenziert kategorisieren, dadurch dass einzelne Körperfunktionen oder Aktivitäten sowie die individuelle Umwelt beurteilt werden. Aufmerksamkeitsschwierigkeiten sowie verschiedene kognitive Fähigkeiten können interdisziplinär beurteilt werden, indem sowohl ihre physischen und psychischen als auch ihre individuellen und gesellschaftlichen Komponenten berücksichtigt werden. Die fachliche und die persönliche Perspektive auf die Syndrome sollten miteinander korreliert werden. Eine klare konzeptionelle Unterscheidung von Krankheit und Behinderung ist nicht möglich. (shrink)

Almost every human disease has both a genetic and an environmental component. Even a classical inherited condition such as hemophilia can be influenced by external factors—in fact, most of the pathogenic effects of the mutation can be avoided by judicious injections of clotting factor, leading to a nearly normal life expectancy. For infectious diseases, often considered as essentially environmental, there are well-documented inherited differences in susceptibility, one of the most striking being the resistance to HIV infection of homozygous carriers (...) of the delta-32 mutation in the CCR5 gene (Dragic et al. 1996). Nevertheless, a number of conditions are “mostly genetic,” others “mostly environmental,” while many .. (shrink)

Applying Behrendt & Young's (B&Y's) model of thalamocortical synchrony to complex visual hallucinations in neurodegenerative disorders, such as dementia with Lewy bodies and progressive supranuclear palsy, leads us to propose that the primary pathology may be cortical rather than thalamic. Additionally, the extinction of active hallucinations by eye closure challenges their conception of the role of reduced sensory input.

The challenges posed by chronic illness have pointed out to epidemiologists the multifactorial complex nature of disease causality. This notion has been referred to as a web of causality. This web extends theoretically beyond risk markers. It includes determinants of emergence/non-emergence of disease. This web of determinants is a form of complex system. Due to its complexity, the determinants within such system are not linked to each others in a linear, predictable manner only. Predictability is possible (...) only on a short-term basis, and unpredictability sets in over the long run. Understanding such a system of determinants calls for articulation and testing of complex models which synthesize our knowledge of multiple determinants at many scales, both biological and otherwise. Given the complexity of this web and existing knowledge about the nonlinearity of such systems, the following question is posed: Can the challenge of studying causality be adequately addressed if emphasis continues to be placed on using tools and methods that are geared towards looking at such system from a linear paradigm? Or is it time to add to the epidemiologic research agenda the notion of nonlinearity and its relevant form of analytical approaches that are being tested in other disciplines? Furthermore, the question posed here applies as well to the study of determinants of health. Addressing determinants of heath adds further complexity to our task. (shrink)

How do common and rare genetic polymorphisms contribute to quantitative traits or disease risk and progression? Multiple human traits have been extensively characterized at the genomic level, revealing their complex genetic architecture. However, it is difficult to resolve the mechanisms by which specific variants contribute to a phenotype. Recently, analyses of variant effects on molecular traits have uncovered intermediate mechanisms that link sequence variation to phenotypic changes. Yet, these methods only capture a fraction of genetic contributions to phenotype. (...) Here, in reviewing the field, it is proposed that complex traits can be understood by characterizing the dynamics of biochemical networks within living cells, and that the effects of genetic variation can be captured on these networks by using protein–protein interaction (PPI) methodologies. This synergy between PPI methodologies and the genetics of complex traits opens new avenues to investigate the molecular etiology of human diseases and to facilitate their prevention or treatment. (shrink)

The concept of disease remains hotly contested. In light of problems with existing accounts, some theorists argue that the disease concept ought to be eliminated. We answer this skeptical challenge by reframing the discussion in terms of the role that the disease concept plays in the complex network of health-care institutions in which it is deployed. We argue that while prevailing accounts do not suffer from the particular defects that critics have identified, they do suffer from (...) other deficits, and this leads us to propose a new account that satisfies the desiderata for a concept of disease in human medicine. (shrink)

(2013). The “Difficult Patient” Conundrum in Sickle Cell Disease in Kenya: Complex Sociopolitical Problems Need Wide Multidimensional Solutions. The American Journal of Bioethics: Vol. 13, No. 4, pp. 20-22. doi: 10.1080/15265161.2013.767960.

Despite several decades of debate, the concept of disease remains hotly contested. The debate is typically cast as one between naturalism and normativism, with a hybrid view that combines elements of each staked out in between. In light of a number of widely discussed problems with existing accounts, some theorists argue that the concept of disease is beyond repair and thus recommend eliminating it in a wide range of practical medical contexts. Any attempt to reframe the ‘disease’ (...) discussion should answer the more basic sceptical challenge, and should include a meta-methodological critique guided by our pragmatic expectations of what the disease concept ought to do given that medical diagnosis is woven into a complex network of healthcare institutions. In this paper, we attempt such a reframing, arguing that while prevailing accounts do not suffer from the particular defects that prominent critics have identified, they do suffer from other deficits—and this leads us to propose an amended hybrid view that places objectivist approaches to disease on stronger theoretical footing, and satisfies the institutional-ethicaldesiderataof a concept of disease in human medicine. Nevertheless, we do not advocate a procrustean approach to ‘disease’. Instead, we recommend disease concept pluralism between medical and biological sciences to allow the concept to serve the different epistemic and institutional goals of these respective disciplines. (shrink)

Heart disease is a complex condition that is a leading cause of death worldwide. It is often seen as a disease of affluence, yet is strongly associated with a gradient in socio-economic status. Its highly complex causality means that many different facets of social and economic life are implicated in its aetiology, including factors such as workplace hierarchy and agricultural policy, together with other well-known factors such as what passes for individual 'lifestyle'. The very untangling of (...) causes for heart disease thus inevitably raises social, moral and political issues. These include the proper role of the individual and of larger social forces in its aetiology, prevention and treatment. The construction of risk factors for heart disease likewise is enmeshed with questions of distributive justice in the responsible targeting of those at risk for heart disease, a debate which has received much overt attention in the medical literature, but less attention within the ethical literature. Strategies for addressing a condition of such complex causality can be highly diverse, from pharmaceutical to social interventions, and value issues attach to the choice and presentation of such strategies. For example, prevention strategies may raise complex issues of responsibility and of judgements of what it is to 'live well'. Further ethical debate on this highly political disease would be welcome. (shrink)

Complexity and integration are longstanding widely debated issues in philosophy of science and recent contributions have largely focused on biology and biomedicine. This paper specifically considers some methodological novelties in cancer research, motivated by various features of tumours as complex diseases, and shows how they encourage some rethinking of philosophical discourses on those topics. In particular, we discuss the integrative-cluster approach, and analyse its potential in the epistemology of cancer. We suggest that, far from being the solution to tame (...) cancer complexity, this approach offers a philosophically interesting new manner of considering integration, and show how it can help addressing the apparent contrast between a pluralistic and a unitary account. (shrink)

Pleiotropy, in which one mutation causes multiple phenotypes, has traditionally been seen as a deviation from the conventional observation in which one gene affects one phenotype. Epistasis, or gene–gene interaction, has also been treated as an exception to the Mendelian one gene–one phenotype paradigm. This simplified perspective belies the pervasive complexity of biology and hinders progress toward a deeper understanding of biological systems. We assert that epistasis and pleiotropy are not isolated occurrences, but ubiquitous and inherent properties of biomolecular networks. (...) These phenomena should not be treated as exceptions, but rather as fundamental components of genetic analyses. A systems level understanding of epistasis and pleiotropy is, therefore, critical to furthering our understanding of human genetics and its contribution to common human disease. Finally, graph theory offers an intuitive and powerful set of tools with which to study the network bases of these important genetic phenomena. (shrink)

What exactly is a genetic disease? For a phrase one hears on a daily basis, there has been surprisingly little analysis of the underlying concept. Medical doctors seem perfectly willing to admit that the etiology of disease is typically complex, with a great many factors interacting to bring about a given condition. On such a view, descriptions of diseases like cancer as geneticseem at best highly simplistic, and at worst philosophically indefensible. On the other hand, there is (...) clearly some practical value to be had by classifying diseases according to theirpredominant cause when this can be accomplished in a theoretically satisfactory manner. The question therefore becomes exactly how one should go about selecting a single causal factor among many to explain the presence of disease. When an attempt to defend such causal selection is made at all, the standard accounts offered (Koch's postulates, Hill's epidemiological criteria, manipulability) are all clearly inadequate. I propose, however, an epidemiological account of disease causation which walks the fine line between practical applicability and theoretical considerations of causal complexity and attempts to compromise between patient-centered and population-centered concepts of disease. The epidemiological account is the most basic framework consistent with our strongly held intuitions about the causal classification of disease, yet it avoids the difficulties encountered by its competitors. (shrink)

As the recent Ebola outbreak demonstrates, visibility is central to the shaping of political, medical, and socioeconomic decisions. The symposium in this issue of the Journal of Bioethical Inquiry explores the uneasy relationship between the necessity of making diseases visible, the mechanisms of legal and visual censorship, and the overall ethics of viewing and spectatorship, including the effects of media visibility on the perception of particular “marked” bodies. Scholarship across the disciplines of communication, anthropology, gender studies, and visual studies, as (...) well as a photographer’s visual essay and memorial reflection, throw light on various strategies of visualization and legitimation and link these to broader socioeconomic concerns. Questions of the ethics of spectatorship, such as how to evoke empathy in the representation of individuals’ suffering without perpetuating social and economic inequalities, are explored in individual, national, and global contexts, demonstrating how disease visibility intersects with a complex nexus of health, sexuality, and global/national politics. A sensible management of visibility—an “ecology of the visible”—can be productive of more viable ways of individual and collective engagement with those who suffer. (shrink)

Complexity and integration are longstanding widely debated issues in philosophy of science and recent contributions have largely focused on biology and biomedicine. This paper specifically considers some methodological novelties in cancer research, motivated by various features of tumours as complex diseases, and shows how they encourage some rethinking of philosophical discourses on those topics. In particular, we discuss the integrative-cluster approach, and analyse its potential in the epistemology of cancer. We suggest that, far from being the solution to tame (...) cancer complexity, this approach offers a philosophically interesting new manner of considering integration, and show how it can help addressing the apparent contrast between a pluralistic and a unitary account. (shrink)

Complexity and integration are longstanding widely debated issues in philosophy of science and recent contributions have largely focused on biology and biomedicine. This paper specifically considers some methodological novelties in cancer research, motivated by various features of tumours as complex diseases, and shows how they encourage some rethinking of philosophical discourses on those topics. In particular, we discuss the integrative-cluster approach, and analyse its potential in the epistemology of cancer. We suggest that, far from being the solution to tame (...) cancer complexity, this approach offers a philosophically interesting new manner of considering integration, and show how it can help addressing the apparent contrast between a pluralistic and a unitary account. (shrink)

What counts as health or ill health? How do we deal with the fallibility of our own bodies? Should illness and disease be considered simply in biological terms, or should considerations of its emotional impact dictate our treatment of it? Our understanding of health and illness had become increasingly more complex in the modern world, as we are able to use medicine not only to fight disease but to control other aspects of our bodies, whether mood, blood (...) pressure, or cholesterol. This collection of essays foregrounds the concepts of health and illness and patient experience within the philosophy of medicine, reflecting on the relationship between the ill person and society. Mental illness is considered alongside physical disease, and the important ramifications of society's differentiation between the two are brought to light. Health, Illness and Disease is a significant contribution to shaping the parameters of the evolving field of philosophy of medicine and will be of interest to medical practitioners and policy-makers as well as philosophers of science and ethicists. (shrink)

This book provides a short, hands-on introduction to the science of complexity using simple computational models of natural complex systems--with models and exercises drawn from physics, chemistry, geology, and biology. By working through the models and engaging in additional computational explorations suggested at the end of each chapter, readers very quickly develop an understanding of how complex structures and behaviors can emerge in natural phenomena as diverse as avalanches, forest fires, earthquakes, chemical reactions, animal flocks, and epidemic diseases. (...) Natural Complexity provides the necessary topical background, complete source codes in Python, and detailed explanations for all computational models. (shrink)

Cardiovascular diseases present the leading cause of death worldwide. Over the last decade, their preventio has become not only a central medical and public health issue but also a matter of political concern as well as a major market for pharma, nutrition, and exercise. A preventive assemblage has formed that integrates diverse kinds of knowledges, technologies, and actors, from molecular biology to social work, to foster a specific healthy lifestyle. In this article, the authors analyze this preventive assemblage as a (...) heterogeneous engineer, that is, as an attempt to order complex everyday life into an architecture of modernism. This article draws on research conducted as part of the interdisciplinary research cluster ‘‘preventive self’’ bringing together analyses from social anthropology, history, linguistics, sociology of knowledge, and medicine. The authors report here primarily from ethnographic investigations into biomedical research, primary care, and educational practices in kindergartens. The authors conclude that the preventive assemblage largely fails to install any kind of singular order. Instead, it is translated into existing orderings producing heterogeneity of a different nuance. (shrink)

The prevention, treatment and management of disease are closely linked to how the causes of a particular disease are explained. For multi-factorial conditions, the causal explanations are inevitably complex and competing models may exist to explain the same condition. Selecting one particular causal explanation over another will carry practical and ethical consequences that are acutely relevant for health policy. In this paper our focus is two-fold; the different models of causal explanation that are put forward within current (...) scientific literature for the high and rising prevalence of the common complex conditions of coronary artery disease and type 2 diabetes mellitus ; and how these explanations are taken up within national health policy guidelines. We examine the causal explanations for these two conditions through a systematic database search of current scientific literature. By identifying different causal explanations we propose a three-tier taxonomy of the most prominent models of explanations: evolutionary, lifecourse, and lifestyle and environment. We elaborate this taxonomy with a micro-level thematic analysis to illustrate how some explanations are semantically and rhetorically foregrounded over others. We then investigate the uptake of the scientific causal explanations in health policy documents with regard to the prevention and management recommendations of current National Service Frameworks for CAD and T2D. Our findings indicate a lack of congruence between the complexity and frequent overlap of causal explanations evident in the scientific literature and the predominant focus on lifestyle recommendations found in the mainstream health policy documents. (shrink)

The point of departure for this article is a review of the discussion between Twaddle and Nordenfelt on the concepts of disease, illness, and sickness, and the objective is to investigate the fruitfulness of these concepts. It is argued that disease, illness, and sickness represent different perspectives on human ailment and that they can be applied to analyze both epistemic and normative challenges to modern medicine. In particular the analysis reveals epistemic and normative differences between the concepts. Furthermore, (...) the article demonstrates, against Nordenfelt's claim, that the concepts of disease, illness, and sickness can exist without a general theory of health. Additionally, the complexity of different perspectives on human ailment also explains why it is so difficult to give strict definitions of basic concepts within modern health care. (shrink)

The COVID-19 pandemic has brought to light significant failures and fragilities in our food, health, and market systems. Concomitantly, it has emphasized the urgent need for a critical re-evaluation of many of the policies and practices that have created the conditions in which viral pathogens can spread. However, there are many factors that are complicating this process; among others, the uncertain, rapidly evolving, and often poorly reported science surrounding the virus’ origins has contributed to a politically charged and often rancorous (...) public debate, which is concerning insofar as the proliferation of divisive discourse may hinder efforts to address complex and collective concerns in a mutually cooperative manner. In developing ethical and effective responses to the disproportionate risks associated with certain food production and consumption practices, we argue that the focus should be on mitigating such risks wherever they arise, instead of seeking to ascribe blame to specific countries or cultures. To this end, this article is an effort to inject some nuance into contemporary conversations about COVID-19 and its broader implications, particularly when it comes to trade in wildlife, public health, and food systems reform. If COVID-19 is to represent a turning point towards building a more equitable, sustainable, and resilient world for both humans and nonhuman animals alike, the kind of fractioning that is currently being exacerbated by the use of loaded terms such as “wet market” must be eschewed in favour of a greater recognition of our fundamental interconnectedness. (shrink)

There has always been an intimate and complex relationship between the diagnosis of a disease and its treatment. The approach dubbed theranostics aims to combine diagnostic techniques with therapeutic ones by deploying the same molecule in two roles, exploiting the specificity of its function to render disease treatment more effective. Does this technical development have the potential to change our conception of disease diagnosis? With the treatment approach so intimately linked to the diagnostic tool, might it (...) be possible to treat a disease without having first made an independent clinical or laboratory diagnosis? Here we discuss medical diagnosis, arguing for three categories of diagnosis, before presenting an example of a theranostic approach using radioactive prostate-specific membrane antigen ligands. This example allows us to envision a form of theranostic agent that would be able to diagnose a cancer, for example, and engage directly in its treatment, opening up the possibility of treating patients at risk of developing this cancer without any other clinical diagnostic steps. Would it be a problem if these approaches eventually became independent of any specialist clinical diagnostic supervision? If a theranostic technique is shown to work, following its own logic, do we still need an independent ‘traditional’ diagnosis prior to its use? We argue that such a diagnosis would no longer be necessary provided certain conditions are fulfilled. (shrink)

In the last few decades, philosophy of science has increasingly focused on multilevel models and causal mechanistic explanations to account for complex biological phenomena. On the one hand, biological and biomedical works make extensive use of mechanistic concepts; on the other hand, philosophers have analyzed an increasing range of examples taken from different domains in the life sciences to test—support or criticize—the adequacy of mechanistic accounts. The article highlights some challenges in the elaboration of mechanistic explanations with a focus (...) on cancer research and neuropsychiatry. It jointly considers fields, which are usually dealt with separately, and keeps a close eye on scientific practice. The article has a twofold aim. First, it shows that identification of the explananda is a key issue when looking at dynamic processes and their implications in medical research and clinical practice. Second, it discusses the relevance of organizational accounts of mechanisms, and questions whether thorough self-sustaining mechanistic explanations can actually be provided when addressing cancer and psychiatric diseases. While acknowledging the merits of the wide ongoing debate on mechanistic models, the article challenges the mechanistic approach to explanation by discussing, in particular, explanatory and conceptual terms in the light of stances from medical cases. (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)

The exponential accumulation, processing and accrual of big data in healthcare are only possible through an equally rapidly evolving field of big data analytics. The latter offers the capacity to rationalize, understand and use big data to serve many different purposes, from improved services modelling to prediction of treatment outcomes, to greater patient and disease stratification. In the area of infectious diseases, the application of big data analytics has introduced a number of changes in the information accumulation models. These (...) are discussed by comparing the traditional and new models of data accumulation. Big data analytics is fast becoming a crucial component for the modelling of transmission—aiding infection control measures and policies—emergency response analyses required during local or international outbreaks. However, the application of big data analytics in infectious diseases is coupled with a number of ethical impacts. Four key areas are discussed in this paper: automation and algorithmic reliance impacting freedom of choice, big data analytics complexity impacting informed consent, reliance on profiling impacting individual and group identities and justice/fair access and increased surveillance and population intervention capabilities impacting behavioural norms and practices. Furthermore, the extension of big data analytics to include information derived from personal devices, such as mobile phones and wearables as part of infectious disease frameworks in the near future and their potential ethical impacts are discussed. Considered together, the need for a constructive and transparent inclusion of ethical questioning in this rapidly evolving field becomes an increasing necessity in order to provide a moral foundation for the societal acceptance and responsible development of the technological advancement. (shrink)

In this paper, I will argue that ageing can be construed as disease. First, the concept of disease is discussed, where the distinction is made between two lines of thought, an objectivist and a subjectivist one. After determining the disease conception to be used throughout the argument, it is proposed that senescence could be seen as disease. Three common counterarguments are discussed, none of which appears strong enough to effectively counter the advocated view. In the third (...) section, two potential implications of the view advocated here will be briefly touched upon. These are the quest for a cure or treatment for ageing and the general attitude towards the elderly. It is concluded that, utilizing an objective disease concept, ageing could be seen as a disease. None of the considered counterarguments packs enough of a punch to discard this. The implications are complex and intertwined, but need not be negative. (shrink)

This paper examines the way in which causal relations are understood in the dominant model in contemporary medicine. It argues that the causal relation is not definable in terms of the condition relation, but that in general for conditions of an occurrence to be among its causes they must answer instrumental interests in a certain way, and there are further criteria for distinguishing 'the' cause of a disease (i.e., its etiological agent) from other causal factors, which are based upon (...) instrumental interests peculiar to medicine. It also argues that diseases are complex processes of which both clinical and underlying patho-physiological manifestations are proper parts (as contrasted with effects). (shrink)

Lentinus edodes sticks are susceptible to mold infection during the culture process, and manual identification of infected sticks is heavy, untimely, and inaccurate. Aiming to solve this problem, this paper proposes a method for identifying infected Lentinus edodes sticks based on improved ResNeXt-50 deep transfer learning. First, a dataset of Lentinus edodes stick diseases was constructed. Second, based on the ResNeXt-50 model and the pretraining weight of the ImageNet dataset, the influence of pretraining weight parameters on recognition accuracy was studied. (...) Finally, six fine-tuning strategies of the fully connected layer were designed to modify the fully connected layer of ResNeXt-50. The experimental results show that the recognition accuracy of the method proposed in this paper can reach 94.27%, which is higher than the Vgg16, GoogLeNet, ResNet50, and MobileNet v2 models by 8.47%, 6.49%, 4.68%, and 9.38%, respectively, and the F1-score can reach 0.9422. The improved method proposed in this paper can reduce the calculation pressure and overfitting problem of the model, improve the accuracy of the model in the identification of Lentinus edodes stick mold diseases, and provide an effective solution for the selection of diseased sticks. (shrink)

Biological science does not try to distinguish between health and disease. Biology is concerned with the interaction between living organisms and their environment. What we call health or disease is quite irrelevant.These reactions between the individual and his environment are complex. The individual and his surroundings form an integrated system which we can arbitrarily divide into two parts. There is an “external” component, by which we mean such factors as light, heat, percentage of oxygen in the air, (...) quantity of minerals or vitamins in food, micro-organisms in food or air, and so on. These can induce changes in what we arbitrarily call the “internal” component. Here we include such crude factors as anatomical structures, or finer details like composition of intercellular fluid, or secretions of glands, or changes of electrical potential in nerve or muscle. (shrink)

Providing access to medicines and health care is one of the most challenging issues facing society today. In this paper the author highlights some of the complexities of the health value chain as well as the problems that the world’s poor have in terms of access to medical care and medicines. He then attempts to delineate the roles and responsibilities of all stakeholders in order to define the specific corporate responsibilities of pharmaceutical companies in the context of the entire responsibility (...) system—the strength of which is determined by its weakest link. Finally, he looks forward to a transformational change being wrought for pro-poor health development by forging new coalitions that cut across both the health and traditional development stakeholders. (shrink)