Over one hundred genes have been isolated from the human genome and shown to be causally related to specific human genetic diseases. Studies with gene‐specific probes have demonstrated that the mutations resulting in a particular phenotype are highly heterogeneous as a group, ranging from alterations in transcription or RNA processing in the nucleus, through to errors in mRNA translation in the cytoplasm. Even where the gene‐specific probe is not available, defects have been localized to chromosomal regions by family studies. (...) Recently developed methods for moving along the chromosome from a linked marker to the mutation are resulting in rapid advances in the understanding of many monogenic disorders. (shrink)

Given recent advancements in CRISPR‐Cas9 powered genetic modification of gametes and embryos, both popular media and scientific articles are hailing CRISPR’s life‐saving, curative potential for people with serious monogenic diseases. But claims that CRISPR modification of gametes or embryos, a form of germline engineering, has therapeutic value are deeply mistaken. This article explains why reproductive uses of CRISPR, and germline engineering more generally, do not treat or save lives that would otherwise have a genetic disease. Reproductive uses of (...) CRISPR create healthy people whose existence is not inevitable in the first place. Creating healthy lives has distinct and lesser moral value from saving or curing lives that would otherwise have genetic disease. The real value in reproductive uses of CRISPR is in helping a very limited population of people have healthy, genetically related children. This diminished value cannot compete with the concerns in opposition to germline engineering, nor is it worth the investment of research money. (shrink)

Considerable hope surrounds the use of disease‐specific pluripotent stem cells to generate models of human disease allowing exploration of pathological mechanisms and search for new treatments. Disease‐specific human embryonic stem cells were the first to provide a useful source for studying certain disease states. The recent demonstration that human somatic cells, derived from readily accessible tissue such as skin or blood, can be converted to embryonic‐like induced pluripotent stem cells (hiPSCs) has opened new perspectives for modelling and understanding a larger (...) number of human pathologies. In this review, we examine the opportunities and challenges for the use of disease‐specific pluripotent stem cells in disease modelling and drug screening. Progress in these areas will substantially accelerate effective application of disease‐specific human pluripotent stem cells for drug screening. (shrink)

Common monogenic genetic diseases, ones that have unexpectedly high frequencies in certain populations, have attracted a great number of conflicting evolutionary explanations. This paper will attempt to explain the mystery of why two particularly extensively studied common genetic diseases, Tay Sachs disease and cystic fibrosis, remain evolutionary mysteries despite decades of research. I review the most commonly cited evolutionary processes used to explain common genetic diseases: reproductive compensation, random genetic drift (in the context of founder effect), (...) and especially heterozygote advantage. The latter process has drawn a particularly large amount of attention, having so successfully explained the elevated frequency of sickle cell anemia in malaria-endemic areas. However, the empirical evidence for heterozygote advantage in other common genetic diseases is quite weak. I introduce and illustrate the significance of a hierarchy of genetic disease phenomena found within the genetic disease explanations, which include the phenomena: single mutation variants of a common genetic disease, single genetic diseases, and classes of diseases with related phenotypic effects. I demonstrate that some of the confusion over the explanations of common genetic diseases can be traced back to confusions over which phenomena are being explained. I proceed to briefly evaluate the existing evidence for two common human genetic diseases: Tay Sachs disease and cystic fibrosis. The above considerations will ultimately shed light on why these diseases’ evolutionary explanations remain so deeply unresolved after so such a great volume of research. (shrink)

Medical explanations have often been thought on the model of biological ones and are frequently defined as mechanistic explanations of a biological dysfunction. In this paper, I argue that topological explanations, which have been described in ecology or in cognitive sciences, can also be found in medicine and I discuss the relationships between mechanistic and topological explanations in medicine, through the example of network medicine and medical genetics. Network medicine is a recent discipline that relies on the analysis of various (...) disease networks in order to find organizing principles in disease explanation. My aim is to show how topological explanations in network medicine can help solving the conceptual issues that pure mechanistic explanations of the genetics of disease are currently facing, namely the crisis of the concept of genetic disease, the progressive geneticization of diseases and the dissolution of the distinction between monogenic and polygenic diseases. However, I will also argue that topological explanations should not be considered as independent and radically different from mechanistic explanations for at least two reasons. First, in network medicine, topological explanations depend on and use mechanistic information. Second, they leave out some missing gaps in disease explanation that require, in turn, the development of new mechanistic explanations. Finally, I will insist on the specific contribution of topological explanations in medicine: they push us to develop an explanation of disease in general, instead of focusing on single explanations of individual diseases. This last point may have major consequences for biomedical research. (shrink)

Gyngell and colleagues consider that the recent Nuffield Council report does not go far enough: heritable genome editing is not just justifiable in a few rare cases; instead, there is a moral imperative to undertake it. We agree that there is a moral argument for this, but in the real world it is mitigated by the fact that it is not usually possible to ensure a better life. We suggest that a moral imperative for HGE can currently only be concluded (...) if one first buys into an overly deterministic view of a genome sequence, and the role of variation within in it, in the aetiology of the disease: most diseases cannot simply be attributed to specific genetic variants that we could edit away. Multiple, poorly understood genetic and environmental factors interact to influence the expression of diseases with a genetic component, even well understood ‘monogenic’ disorders. Population-level genome analyses are now demonstrating that many genetic ’mutations' are much less predictive than previously thought 1. Furthermore, HGE might introduce new risks just as it reduces old ones; or remove protections not yet clearly delineated. (shrink)

This paper primarily argues that Epidemiology is Ecosystem Science. It will not only explore this notion in detail but will also relate it to the argument that Classical Chinese Medicine was/is Ecosystem Science. Ecosystem Science and Ecosystem Science share these characteristics: they do not subscribe to the monogenic conception of disease; they involve multi variables; the model of causality presupposed is multi-factorial as well as non-linear.

In the last decade, preimplantation genetic testing have become widely used and in 2005 constituted 5 percent of all in vitro fertilization cycles performed in Europe. Their diffusion, however, is not homogenous; while in some countries they are prohibited and in others hardly implemented, Spain performs 33 percent of all the PGD/pgs. While policy guidelines and mainstream bioethics address PGD from a patient choice perspective, disability studies insist on PGD’s potentiality for discrimination. Alternatively, other authors have explored PGD/pgs from the (...) perspective of geneticization but little work has been done on how PGD/pgs are framed by the members of national regulatory bodies. Combining the analysis of juridical documents with semistructured interviews with members of the Spanish National Assisted Reproduction Committee, this study suggests that the remarkable diffusion of PGD/pgs in Spain may be largely due to the interaction between the growing momentum enjoyed by embryonic stem cell research and a vibrant expansion of IVF business along the Mediterranean coast. In this process, genetic issues per se seem to play a minor role, although the prevention of genetic diseases now constitutes the master narrative underpinning the extension of PGD from monogenic, early onset, diseases to polygenic, late-onset, ones. (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)

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 questions about conceptual links drawn between disease and dysfunction, harm, and risk. We argue that (...) "disease" should be considered a vague concept with a nonclassical 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 précising 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)

Disease prioritarianism is a principle that is often implicitly or explicitly employed in the realm of healthcare prioritization. This principle states that the healthcare system ought to prioritize the treatment of disease before any other problem. This article argues that disease prioritarianism ought to be rejected. Instead, we should adopt ‘the problem-oriented heuristic’ when making prioritizations in the healthcare system. According to this idea, we ought to focus on specific problems and whether or not it is possible and efficient to (...) address them with medical means. This has radical implications for the extension of the healthcare system. First, getting rid of the binary disease/no-disease dichotomy implicit in disease prioritarianism would improve the ability of the healthcare system to address chronic conditions and disabilities that often defy easy classification. Second, the problem-oriented heuristic could empower medical practitioners to address social problems without the need to pathologize these conditions. Third, the problem-oriented heuristic clearly states that what we choose to treat is a normative consideration. Under this assumption, we can engage in a discussion on de-medicalization without distorting preconceptions. Fourth, this pragmatic and de-compartmentalizing approach should allow us to reconsider the term ‘efficiency’. (shrink)

This paper examines what it is for a condition to be a disease. It falls into two sections. In the first I examine the best existing account of disease (as proposed by Christopher Boorse) and argue that it must be rejected. In the second I outline a more acceptable account of disease. According to this account, by disease we mean a condition that it is a bad thing to have, that is such that we consider the afflicted person to have (...) been unlucky, and that can potentially be medically treated. All three criteria must be fulfilled for a condition to be a disease. The criterion that for a condition to be a disease it must be a bad thing is required to distinguish the biologically different from the diseased. The claim that the sufferer must be unlucky is needed to distinguish diseases from conditions that are unpleasant but normal, for example teething. Finally, the claim that for a condition to be a disease it must be potentially medically treatable is needed to distinguish diseases from other types of misfortune, for example economic problems and legal problems. (shrink)

Rare genetic diseases collectively impact millions of individuals in the United States. These patients and their families share many challenges including delayed diagnosis, lack of knowledgeable providers, and limited economic incentives to develop new therapies for small patient groups. As such, rare disease patients and families often must rely on advocacy, including both self-advocacy to access clinical care and public advocacy to advance research. However, these demands raise serious concerns for equity, as both care and research for a given (...) disease can depend on the education, financial resources, and social capital available to the patients in a given community. In this article, we utilize three case examples to illustrate ethical challenges at the intersection of rare diseases, advocacy and justice, including how reliance on advocacy in rare disease may drive unintended consequences for equity. We conclude with a discussion of opportunities for diverse stakeholders to begin to address these challenges. (shrink)

Conceptual analysis of health and disease is portrayed as consisting in the confrontation of a set of criteria—a “definition”—with a set of cases, called instances of either “health” or “ disease.” Apart from logical counter-arguments, there is no other way to refute an opponent’s definition than by providing counter-cases. As resorting to intensional stipulation is not forbidden, several contenders can therefore be deemed to have succeeded. This implies that conceptual analysis alone is not likely to decide between naturalism and normativism. (...) An alternative to this approach would be to examine whether the concept of disease can be naturalized. (shrink)

RECENT PHILOSOPHICAL ATTENTION TO THE LANGUAGE OF DISEASE HAS FOCUSED PRIMARILY ON THE QUESTION OF ITS VALUE-NEUTRALITY OR NON-NEUTRALITY. PROPONENTS OF THE VALUE-NEUTRALITY THESIS SYMBOLICALLY COMBINE POLITICAL AND OTHER CRITICISMS OF MEDICINE IN AN ATTACK ON WHAT THEY SEE AS VALUE-INFECTED USES OF DISEASE LANGUAGE. THE PRESENT ESSAY ARGUES AGAINST TWO THESES ASSOCIATED WITH THIS VIEW: A METHODOLOGICAL THESIS WHICH TENDS TO DIVORCE THE ANALYSIS OF DISEASE LANGUAGE FROM THE CONTEXT OF THE PRACTICE OF MEDICINE AND A SUBSTANTIVE THESIS WHICH (...) HOLDS THAT DISEASE LANGUAGE IS EVALUATIVELY NEUTRAL. IN PARTICULAR, THE ESSAY CRITICALLY FOCUSES ON THE VALUE NEUTRAL POSITION ADOPTED BY CHRISTOPHER BOORSE, WHICH HE TERMS A FUNCTIONAL THEORY OF DISEASE. THE ARGUMENT CONCERNS WHETHER OR NOT ONE CAN HAVE VALUE NEUTRAL DESCRIPTION OF DISEASE STATES OR WHETHER DISEASE LANGUAGE ESSENTIALLY INVOLVES VALUES. (shrink)

Rare diseases pose a particular priority setting problem. The UK gives rare diseases special priority in healthcare priority setting. Effectively, the National Health Service is willing to pay much more to gain a quality-adjusted life-year related to a very rare disease than one related to a more common condition. But should rare diseases receive priority in the allocation of scarce healthcare resources? This article develops and evaluates four arguments in favour of such a priority. These pertain to (...) public values, luck egalitarian distributive justice the epistemic difficulties of obtaining knowledge about rare diseases and the incentives created by a higher willingness to pay. The first is at odds with our knowledge regarding popular opinion. The three other arguments may provide a reason to fund rare diseases generously. However, they are either overinclusive because they would also justify funding for many non-rare diseases or underinclusive in the sense of justifying priority for only some rare diseases. The arguments thus fail to provide a justification that tracks rareness as such. There are no data in this work. (shrink)

Technological developments have resulted in tremendous increases in the volume and diversity of the data and information that must be processed in the course of biomedical and clinical research and practice. Researchers are at the same time under ever greater pressure to share data and to take steps to ensure that data resources are interoperable. The use of ontologies to annotate data has proven successful in supporting these goals and in providing new possibilities for the automated processing of data and (...) information. In this chapter, we describe different types of vocabulary resources and emphasize those features of formal ontologies that make them most useful for computational applications. We describe current uses of ontologies and discuss future goals for ontology-based computing, focusing on its use in the field of infectious diseases. We review the largest and most widely used vocabulary resources relevant to the study of infectious diseases and conclude with a description of the Infectious Disease Ontology (IDO) suite of interoperable ontology modules that together cover the entire infectious disease domain. (shrink)

Debates about the genuine disease status of controversial diseases rely on intuitions about a range of factors. Adopting tools from experimental philosophy, this paper explores some of the factors that influence judgments about whether low sexual desire should be considered a disease and whether it should be medically treated. Drawing in part on some assumptions underpinning a divide in the literature between viewing low sexual desire as a genuine disease and seeing it as improperly medicalized, we investigate whether health (...) and disease judgments are affected by factors such as an individual’s gender, the cause of the low desire, whether the desire is high or low, and both personal and societal valuations of the condition. Our main findings indicate that (a) the cause of a condition influences whether it is judged a disorder, (b) how the individual values the condition influences whether the condition is seen as a proper target of medical intervention, and (c) perceived dysfunction influences judgments regarding health, disorder classification, medicalization, and medical intervention. Our findings help further illuminate the intricate interplay of factors that influence judgments about health and disease in controversial conditions. (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)

, Lawrie Reznek argues that disease is not a natural kind term. I raise objections to Reznek's two central arguments for establishing that disease is not a natural kind. In criticizing his a priori, conceptual argument against naturalism, I argue that his conclusion rests on a weaker argument that appeals to the empirical diversity in the symptoms and manifestations of disease. I also raise questions about the account of natural kinds which Reznek utilizes and his point that conventions for classification (...) are excluded by there being natural kinds. Keywords: Disease, natural kind, value judgement CiteULike Connotea Del.icio.us What's this? (shrink)

Philosophical debates about the concept of disease, particularly of mental disease, might benefit from reconsideration and a closer look at the established terminology and conceptual structure of contemporary medical pathology and clinical nosology. The concepts and principles of medicine differ, to a considerable extent, from the ideas and notions of philosophical theories of disease. In medical theory, the concepts of disease entity and pathologicity are, besides the concept of disease itself, of fundamental importance, and they are essentially connected to the (...) concepts cause of disease or etiological factor, natural course or natural history of disease, and pathological disposition. It is the concept of disease entity that is of key importance for understanding medical pathology and theory of disease. Its central role is shown by a short reconstruction of its main features and its intrinsic connection to the concept of pathologicity. The meaning of pathologicity is elucidated by explicating the underlying criteria. (shrink)

Health, Disease, and Illness brings together a sterling list of classic and contemporary thinkers to examine the history, state, and future of ever-changing "concepts" in medicine.

Social Constructivism about the disease concept has generally been taken to ignore the fundamental biological reality underlying diseases, as well as to fall foul of several apparently compelling objections. In this paper, I explain how the metaphysical relation of grounding can be used to tie a socially constructed account of diseases and their classification to their underlying biological and behavioural states. I then generalize the position by disambiguating several varieties of normativism, including a particularly strong ‘placeholder’ version of (...) social constructivism, and showing that the grounding approach is available to each. I go on to provide what I believe to be the first attempt at a full semantics for disease-talk and disagreement, before using the placeholder to demonstrate on that basis that the most troublesome objections to normativism can be avoided even by very strong versions of the position. (shrink)

Our goal in this paper is to articulate a precise concept of at least a certain kind of disease-mongering, showing how pharmaceutical marketing can commercially exploit certain diseases when their best definition is given through the success of a treatment in a clinical trial. We distinguish two types of disease-mongering according to the way they exploit the definition of the trial population for marketing purposes. We argue that behind these two forms of disease-mongering there are two well-known problems in (...) the statistical methodology of clinical trials (the reference class problem and the distinction between statistical and clinical significance). Overcoming them is far from simple. (shrink)

In this paper, I focus on life-threatening medical conditions and argue that from the point of view of natural properties, induction(s), and participation in laws, at least some of the ill organisms dealt with in somatic medicine form natural kinds in the same sense in which the kinds in the exact sciences are thought of as natural. By way of comparing two ‘divisions of nature’, viz., a ‘classical’ exact science kind (gold) and a kind of disease (Graves disease), I show (...) that there is no justifiable ‘ontological gap’ between disease kinds and exact sciences kinds. We have instead a difference of degree. (shrink)

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)

Recent philosophical attention to the language of disease has focused primarily on the question of its value-neutrality or non-neutrality. Proponents of the value-neutrality thesis symbolically combine political and other criticisms of medicine in an attack on what they see as value-infected uses of disease language. The present essay argues against two theses associated with this view: a methodological thesis which tends to divorce the analysis of disease language from the context of the practice of medicine and a substantive thesis which (...) holds that disease language is evaluatively neutral. In particular, the essay critically focuses on the value neutral position adopted by Christopher Boorse, which he terms a functional theory of disease. The argument concerns whether or not one can have value neutral description of disease states or whether disease language essentially involves values. (shrink)

In the contemporary biomedical literature, every disease is considered genetic. This extension of the concept of genetic disease is usually interpreted either in a trivial or genocentrist sense, but it is never taken seriously as the expression of a genetic theory of disease. However, a group of French researchers defend the idea of a genetic theory of infectious diseases. By identifying four common genetic mechanisms (Mendelian predisposition to multiple infections, Mendelian predisposition to one infection, and major gene and polygenic (...) predispositions), they attempt to unify infectious diseases from a genetic point of view. In this article, I analyze this explicit example of a genetic theory, which relies on mechanisms and is applied only to a specific category of diseases, what we call “a regional genetic theory.” I have three aims: to prove that a genetic theory of disease can be devoid of genocentrism, to consider the possibility of a genetic theory applied to every disease, and to introduce two hypotheses about the form that such a genetic theory could take by distinguishing between a genetic theory of diseases and a genetic theory of Disease. Finally, I suggest that network medicine could be an interesting framework for a genetic theory of Disease. (shrink)

Theorists analyzing the concept of disease on the basis of the notion of dysfunction consider disease to be dysfunction requiring. More specifically, dysfunction-requiring theories of disease claim that for an individual to be diseased certain biological facts about it must be the case. Disease is not wholly a matter of evaluative attitudes. In this paper, I consider the dysfunction-requiring component of Wakefield’s hybrid account of disease in light of the artifactual organisms envisioned by current research in synthetic biology. In particular, (...) I argue that the possibility of artifactual organisms and the case of oncomice and other bred or genetically modified strains of organism constitute a significant objection to Wakefield’s etiological account of the dysfunction requirement. I then develop a new alternative understanding of the dysfunction requirement that builds on the organizational theory of function. I conclude that my suggestion is superior to Wakefield’s theory because it (a) can accommodate both artifactual and naturally evolved organisms, (b) avoids the possibility of there being a conflict between what an organismic part is supposed to do and the health of the organism, and (c) provides a nonarbitrary and practical way of determining whether dysfunction occurs. (shrink)

Terminally ill patients in 10 states plus Washington, D.C. have the right to take prescribed medications to end their lives (medical aid in dying). But otherwise-eligible patients with neuromuscular disabilities (ALS and other illnesses) are excluded if they are physically unable to “self-administer” the medications without assistance. This exclusion is incompatible with disability rights laws that mandate assistance to provide equal access to health care. This contradiction between aid-in-dying laws and disability rights laws can force patients and clinicians into violating (...) one or the other, potentially creating an underclass of patients denied medical care that is available to those with other (less physically disabling) terminal illnesses. The immediacy of this issue is demonstrated by a lawsuit in Federal court filed in August 2021, requesting assistance in self-administration for terminally ill patients with neuromuscular diseases. This paper discusses the background of this conflict, the ethical issues at the heart of the dilemma, and recommends potential remedies. (shrink)

Coronavirus disease 2019 pandemic is continuing to have severe effects on tourism-related industries, as safety precautions have become essential to follow. Based on this, this study aims to explore the role of perceptions of the tourist of safety in tourism destination choice with the mediating effect of tourist trust in the context of the Chinese tourism sector. In addition, this study considers improvements to safety measures for sustainable tourism and the benefits of the technology transformation in the travel industry because (...) of COVID-19. For this study, a quantitative approach was used, and data were collected through convenient sampling. The questionnaire was measured on a 5-point Likert scale, and a cross-sectional approach was adopted for data analysis. The findings of this study show that the effect of the perceived safety of the social environment, perceived safety of facility and equipment elements, perceived safety of human elements, perceived safety of management elements, and perceived safety of natural environments is significant and positive on the tourist destination choice. In addition, TT is a significant mediator between these elements and TDC. Furthermore, this study concluded that COVID-19 had increased travel anxiety, with particularly negative effects on the Chinese tourism sector, but that the adoption of perceived safety measures could be beneficial in regaining TT for traveling, eventually giving tourists confidence in choosing their traveling destination. (shrink)

Paul Griffiths and John Matthewson argue that selected effects play the key role in determining whether a state is pathological. In response, it is argued that a selected effects account faces a number of difficulties in light of modern genomic research. Firstly, a modern history approach to selection is problematic as a basis for assigning function to human traits in light of the small population sizes in the hominin lineage, which imply that selection has played a limited role in shaping (...) these genomes in the evolutionarily recent past. Secondly, determining both the genetic basis of disease and selective histories of the various alleles involved may be experimentally intractable. Thirdly, the existence of “selected disorders” is well supported, and yet on the other hand many other common diseases may not reduce evolutionary fitness. In summary, the biological ends promoted by natural selection, as best modeled in recent research, do not adequately ground a concept of dysfunction that aligns well with the interests of human health. (shrink)

The philosophy of medicine and psychiatry has considered the defining of disease, illness, and disorder an important project for over three decades. Within this literature, accounts based on adaptive "functions" have been prominent, particularly in the DSM nosology. In response to this trend, Jerome Wakefield has presented a view of mental disorder as "harmful dysfunction." In this view, "harm" contributes the value-element to disorder concepts, while "dysfunction" implies a value-free foundation as long as the latter is grounded in evolutionary biology. (...) In a critical review of Wakefield's and others' functionalist arguments for disorder concepts, we make four major points. We recommend a shift away from the definition of value-free disorder concepts, instead emphasizing the analysis of the logical features and the value commitments in nosological categories. (shrink)

The Neurological Disease Ontology (ND) is being developed to provide a comprehensive framework for the representation of neurological diseases (Diehl et al., 2013). ND utilizes the model established by the Ontology for General Medical Science (OGMS) for the representation of entities in medicine and disease (Scheuermann et al., 2009). The goal of ND is to include information for each disease concerning its molecular, genetic, and environmental origins, the processes involved in its etiology and realization, as well as its clinical (...) presentation including signs and symptoms. (shrink)

Plants from a handful of species provide the primary source of food for all people, yet this source is vulnerable to multiple stressors, such as disease, drought, and nutrient deficiency. With rapid population growth and climate uncertainty, the need to produce crops that can tolerate or resist plant stressors is more crucial than ever. Traditional plant breeding methods may not be sufficient to overcome this challenge, and methods such as highOthroughput sequencing and automated scoring of phenotypes can provide significant new (...) insights. Ontologies are essential tools for accessing and analysing the large quantities of data that come with these newer methods. As part of a larger project to develop ontologies that describe plant phenotypes and stresses, we are developing a plant disease extension of the Infectious Disease Ontology (IDOPlant). The IDOPlant is envisioned as a reference ontology designed to cover any plant infectious disease. In addition to novel terms for infectious diseases, IDOPlant includes terms imported from other ontologies that describe plants, pathogens, and vectors, the geographic location and ecology of diseases and hosts, and molecular functions and interactions of hosts and pathogens. To encompass this range of data, we are suggesting inOhouse ontology development complemented with reuse of terms from orthogonal ontologies developed as part of the Open Biomedical Ontologies (OBO) Foundry. The study of plant diseases provides an example of how an ontological framework can be used to model complex biological phenomena such as plant disease, and how plant infectious diseases differ from, and are similar to, infectious diseases in other organism. (shrink)

How should we define ‘health’ and ‘disease’? There are three main positions in the literature. Naturalists desire value-free definitions based on scientific theories. Normativists believe that our uses of ‘health’ and ‘disease’ reflect value judgments. Hybrid theorists offer definitions containing both normativist and naturalist elements. This paper discusses the problems with these views and offers an alternative approach to the debate over ‘health’ and ‘disease’. Instead of trying to find the correct definitions of ‘health’ and ‘disease’ we should explicitly talk (...) about the considerations that are central in medical discussions, namely state descriptions and normative claims . This distinction avoids the problems facing the major approaches to defining ‘health’ and ‘disease’, and it more clearly captures what matters in medical discussions. (shrink)

Surveillance is essential for communicable disease prevention and control. Traditional notification of demographic and clinical information, about individuals with selected infectious diseases, allows appropriate public health action and is protected by public health and privacy legislation, but is slow and insensitive. Big data–based electronic surveillance, by commercial bodies and government agencies, which draws on a plethora of internet- and mobile device–based sources, has been widely accepted, if not universally welcomed. Similar anonymous digital sources also contain syndromic information, which can (...) be analysed, using customised algorithms, to rapidly predict infectious disease outbreaks, but the data are nonspecific and predictions sometimes misleading. However, public health authorities could use these online sources, in combination with de-identified personal health data, to provide more accurate and earlier warning of infectious disease events—including exotic or emerging infections—even before the cause is confirmed, and allow more timely public health intervention. Achieving optimal benefits would require access to selected data from personal electronic health and laboratory records and the potential to re-identify individuals found to be involved in outbreaks, to ensure appropriate care and infection control. Despite existing widespread digital surveillance and major potential community benefits of extending its use to communicable disease control, there is considerable public disquiet about allowing public health authorities access to personal health data. Informed public discussion, greater transparency and an ethical framework will be essential to build public trust in the use of new technology for communicable disease control. (shrink)

In this article, we explore how sub-Saharan African immigrant populations in France have been constructed as risk groups by media sources, in political rhetoric, and among medical professionals, drawing on constructs dating to the colonial period. We also examine how political and economic issues have been mirrored and advanced in media visibility and ask why particular populations and the diseases associated with them in the popular imagination have received more attention at certain historical moments. In the contemporary period we (...) analyze how the bodies of West African women and men have become powerful metaphors in the politics of discrimination prevalent in France, in spite of Republican precepts that theoretically disavow cultural and social difference. (shrink)

There is a flood of papers being published on new ways to diagnose Alzheimer disease before it is symptomatic, involving a combination of invasive tests , and pen and paper tests. This changes the landscape with respect to genetic tests for risk of AD, making rational suicide a much more feasible option. Before the availability of these presymptomatic tests, even someone with a high risk of developing AD could not know if and when the disease was approaching. One could lose (...) years of good life by committing suicide too soon, or risk waiting until it was too late and dementia had already sapped one of the ability to form and carry out a plan. One can now put together what one knows about one's risk, with continuing surveillance via these clinical tests, and have a good strategy for planning one's suicide before one becomes demented. This has implications for how these genetic and clinical tests are marketed and deployed, and the language one uses to speak about them. The phrase ‘there is nothing one can do’ is insulting and disrespectful of the planned suicide option, as is the language of the Risk Evaluation and Education for Alzheimer's Disease studies and others that conclude that it is ‘safe’ to tell subjects their risk status for AD. Further, the argument put forward by some researchers that presymptomatic testing should remain within research protocols, and the results not shared with subjects until such time as treatments become available, disrespects the autonomy of people at high risk who consider suicide an option. (shrink)

This paper gives a self-defence account of the scope and limits of the justified use of compulsion to control contagious disease. It applies an individualistic model of self-defence for state action and uses it to illuminate the constraints on public health compulsion of proportionality and using the least restrictive alternative. It next shows how a self-defence account should not be rejected on the basis of past abuses. The paper then considers two possible limits to a self-defence justification: compulsion of the (...) non-culpable and over-inclusive compulsion. The paper claims that objections to compelling the non-culpable do not greatly restrict the scope of the self-defence justification. The over-included are, however, innocent bystanders, and methods such as compulsory quarantine, vaccination, and screening are not justified in self-defence. (shrink)

In a recent article in this journal, Zachary Ardern criticizes our view that the most promising candidate for a naturalized criterion of disease is the "selected effects" account of biological function and dysfunction. Here we reply to Ardern’s criticisms and, more generally, clarify the relationship between adaptation and dysfunction in the evolution of health and disease.

Response to commentary. We are grateful to Crockett and Craigie for their interesting remarks on our paper. We accept Crockett’s claim that there is a need for caution in drawing inferences about patient groups from work on healthy volunteers in the laboratory. However, we believe that the evidence we cited established a strong presumption that many of the patients who are routinely taking a medication, including many people properly prescribed the medication for a medical condition, have morally significant aspects of (...) their cognition and behavior modified in a way that is unintended and may sometimes be unwelcome. Crockett notes that in some cases the effects of long-term drug use may differ, sometimes markedly, from the effects of short-term use. However, if acute use of a drug affects a neural system involved in mediating moral cognition or behavior, this nevertheless provides some evidence that chronic use of the drug may affect that same system and thus have morally significant effects. It is also plausible, in some cases, that an acute moral effect would give rise to a chronic moral effect via cognitive mechanisms. ... (shrink)

"This is a wonderful book! In "How Scientists Explain Disease," Paul Thagard offers us a delightful essay combining science, its history, philosophy, and sociology.

This chapter relates the problem of demarcating the pathological from the non-pathological in psychiatry to the general problem of defining ‘disease’ in the philosophy of medicine. Section 2 revisits three prominent debates in medical nosology: naturalism versus normativism, the three dimensions of illness, sickness, and disease, and the demarcation problem. Sections 3–5 reformulate the demarcation problem in terms of semantic vagueness. ‘Disease’ exhibits vagueness of degree by drawing no sharp line in a continuum and is combinatorially vague because there are (...) several criteria for the term’s use that might fall apart. Combinatorial vagueness explains why the other two debates appear hopeless: Should we construe ‘disease’ in a naturalistic or in a normative way? Neither answer is satisfactory. How should we balance the three dimensions of pathology? We do not have to, because illness, sickness and disease (narrowly conceived) are non-competing criteria for the application of the cluster term ‘disease’. (shrink)

The paper develops and addresses a major challenge for therapeutic conceptions of philosophy of the sort increasingly attributed to Wittgenstein. To be substantive and relevant, such conceptions have to identify “diseases of the understanding” from which philosophers suffer, and to explain why these “diseases” need to be cured in order to resolve or overcome important philosophical problems. The paper addresses this challenge in three steps: With the help of findings and concepts from cognitive linguistics and cognitive psychology, it (...) redevelops the Wittgensteinian notion of “philosophical pictures.” Through a case study on seminal versions of familiar mind-body problems, it examines how such pictures shape philosophical reflection and generate ill-motivated but captivating problems. Third, it shows that philosophical pictures are constitutive of “diseases of the understanding,” in a quite strict sense of the term. On this basis, the paper explains when and why philosophical therapy is required. (shrink)

The COVID-19 pandemic invites a question about how long-standing narratives of alterity and current narratives of disease are entwined and re-enacted in the diagnosis of COVID-19. In this commentary, we discuss two related phenomena that, we argue, should be taken into account in answering this question. First, we address the diffusion of pseudoscientific accounts of minorities’ immunity to COVID-19. While apparently praising minorities’ biological resistance, such accounts rhetorically introduce a distinction between “Us” and “Them,” and in so doing produce new (...) and re-enact old narratives of alterity. Second, these unsubstantiated narratives thrive on fake news and scarcity of data. The second part of this commentary thus surveys the methods through which the COVID-19 test is administered in various countries. We argue that techniques used for data collection have a major role in producing COVID-19 data that render contagion rates among migrants and other minorities invisible. In the conclusion, we provide two recommendations about how COVID-19 data can instead potentially work towards inclusion. (shrink)

Some ‘naturalist’ accounts of disease employ a biostatistical account of dysfunction, whilst others use a ‘selected effect’ account. Several recent authors have argued that the biostatistical account offers the best hope for a naturalist account of disease. We show that the selected effect account survives the criticisms levelled by these authors relatively unscathed, and has significant advantages over the BST. Moreover, unlike the BST, it has a strong theoretical rationale and can provide substantive reasons to decide difficult cases. This is (...) illustrated by showing how life-history theory clarifies the status of so-called diseases of old age. The selected effect account of function deserves a more prominent place in the philosophy of medicine than it currently occupies. _1_ Introduction _2_ Biostatistical and Selected Effect Accounts of Function _3_ Objections to the Selected Effect Account _3.1_ Boorse _3.2_ Kingma _3.3_ Hausman _3.4_ Murphy and Woolfolk _4_ Problems for the Biostatistical Account _4.1_ Schwartz _5_ Analysis versus Explication _6_ Explicating Dysfunction: Life History Theory and Senescence _7_ Conclusion. (shrink)

Alzheimer’s Disease (AD) provides an excellent case study to investigate emerging conceptions of health, disease, pre-disease, and risk. Two scientific working groups have recently reconceptualized AD and created a new category of asymptomatic biomarker positive persons, who are either said to have preclinical AD, or to be at risk for AD. This article examines how prominent theories of health and disease would classify this condition: healthy or diseased? Next, the notion of being “at risk”—a state somewhere in-between health and disease—is (...) considered from various angles. It is concluded that medical-scientific developments urge us to let go of dichotomous ways of understanding disease, that the notion of “risk,” conceptualized as an increased chance of getting a symptomatic disease, might be a useful addition to our conceptual framework, and that we should pay more attention to the practical usefulness and implications of the ways in which we draw lines and define concepts. (shrink)