This paper attempts to address the general questionwhether information technologies, as applied in thearea of medicine and health care, have or are likelyto change fundamental concepts regarding disease andhealth. After a short excursion into the domain ofmedical informatics I provide a brief overview of someof the current theories of what a disease is from amore philosophical perspective, i.e. the ``valuefree'' and ``value laden'' view of disease. Next, Iconsider at some length, whether health careinformatics is currently modifying fundamentalconcepts of disease. (...) To this question I will answerlargely in the negative, and I will provide the sketchof some arguments from current research programs inmedical informatics why I think this is the case. Thisargumentation is supported by a detailed account ofhow the disease profile for beriberi heart disease,used in one of the major medical informaticsdiagnostic programs, QMR (and its ancestorINTERNIST-1), was developed, and why at least thisprogram essentially follows received views oftraditional medicine.The one main exception to theconformity of this program to ``received'' views of adisease occurs when the program's designers need tofine-tune a disease definition. This fine-tuning is tocomport with the expert's perspective on the disease,including his or her epistemic values, as well as theprogram's other resources for diagnosing components ofa disease. (shrink)

This paper attempts to address the general question whether information technologies, as applied in the area of medicine and health care, have or are likely to change fundamental concepts regarding disease and health. After a short excursion into the domain of medical informatics I provide a brief overview of some of the current theories of what a disease is from a more philosophical perspective, i.e., the "value free" and "value laden" view of disease. Next, I consider at some (...) length, whether health care informatics is currently modifying fundamental concepts of disease. To this question I will answer largely in the negative. (shrink)

The unprecedented development of medical informatics is constantly transforming the concept of expertise in medical sciences in a way that has far-reaching consequences for both the theory of knowledge and the philosophy of informatics. Deep medicine is based on the assumption that medical diagnosis should take into account the wide array of possible health factors involved in the diagnostic process, such as not only genome analysis alone, but also the metabolome (analysis of all body metabolites (...) important for e.g. drug-drug interactions), microbiome (i.e. analysis of all bodily microorganisms interacting with host cells) or exposome (analysis of all environmental factors triggering potentially harmful cell mutations, such as UV radiation, heavy metals, various carcinogens, etc.). Deep data analysis is of tantamount importance for personalized diagnosis but, at the same time, hardly achievable by a regular human being. However, adequately designed artificial intelligence (e.g. a deep neural network) can undeniably be of great help for finding correlations between symptoms and underlying diseases. Nowadays AI applies to nearly every aspect of medicine, starting from the data analysis of scientific literature, through the diagnostic process, to the act of communication between physicians and their patients. Medical image processing algorithms greatly enhance the chances of successful recognition of melanoma or intestinal polyps. Communication tools designed for physicians use techniques known from social media to provide users with an opportunity to consult the case with colleagues from the same discipline. Natural language processing tools significantly improve doctor-patient communication by the automation of note-taking. Is this enough to support the claim that the non-epistemic competences in medicine are becoming more and more important? Can we attribute expertise only to a person? How is medical informatics changing the way most people usually understand human-computer interactions? (shrink)

Initially the problems of data integration, for example in the field of medicine, were resolved in case by case fashion. Pairs of databases were cross-calibrated by hand, rather as if one were translating from French into Hebrew. As the numbers and complexity of database systems increased, the idea arose of streamlining these efforts by constructing one single benchmark taxonomy, as it were a central switchboard, into which all of the various classification systems would need to be translated only once. By (...) serving as a lingua franca for database integration this benchmark taxonomy would ensure that all databases calibrated in its terms would be automatically compatible with each other. We describe one strategy for creating such a lingua franca, in which philosophical ontology plays a central role. (shrink)

The exponential digitization of medical data has led to a transformation of the practice of medicine. This change notably raises a new complexity of issues surrounding health IT. The proper use of these communication tools, such as telemedicine, e-health, m-health the big medical data, should improve the quality of monitoring and care of patients for an information system to "human face". Faced with these challenges, the author analyses in an ethical angle the patient-physician relationship, sharing, transmission and storage (...) of medical information, setting pins to an ethic for the digitization of medical information. Drawing on good practice recommendations closely associated with values, this model is developing tools for reflection and present the keys to understanding the decision-making issues that reflect both the technological constraints and the complex nature of human reality in medicine. (shrink)

Objective: There are benefits and risks of giving patients more granular control of their personal health information in electronic health record (EHR) systems. When designing EHR systems and policies, informaticists and system developers must balance these benefits and risks. Ethical considerations should be an explicit part of this balancing. Our objective was to develop a structured ethics framework to accomplish this. -/- Methods: We reviewed existing literature on the ethical and policy issues, developed an ethics framework called a “Points to (...) Consider” (P2C) document, and convened a national expert panel to review and critique the P2C. -/- Results: We developed the P2C to aid informaticists designing an advanced query tool for an electronic health record (EHR) system in Indianapolis. The P2C consists of six questions (“Points”) that frame important ethical issues, apply accepted principles of bioethics and Fair Information Practices, comment on how questions might be answered, and address implications for patient care. -/- Discussion: The P2C is intended to clarify whatis at stake when designers try to accommodate potentially competing ethical commitments and logistical realities. The P2C was developed to guide informaticists who were designing a query tool in an existing EHR that would permit patient granular control. While consideration of ethical issues is coming to the forefront of medical informatics design and development practices, more reflection is needed to facilitate optimal collaboration between designers and ethicists. This report contributes to that discussion. (shrink)

Linguistics, in general, is the basic science of all language studies. It is concerned with the nature and structure of language and with the role it plays in human communication. Medical linguistics uses some methods of general linguistics and also creates additional ones. This is motivated by the following practical needs: Computer-aided data record, storage, and retrieval in medical practice and research require that medical data be stored in such a manner that enables their computational processing. However, (...) databases written in natural medical language cannot be easily processed. To enable efficient natural language processing, medical terms and sentences used in them must be made amenable to syntactic and semantic operations by computer programs. Medical linguistics is an ill-defined, interdisciplinary branch of medical informatics and medical information and library sciences concerned with methods and problems of natural language processing in medicine. (shrink)

The use of black box algorithms in medicine has raised scholarly concerns due to their opaqueness and lack of trustworthiness. Concerns about potential bias, accountability and responsibility, patient autonomy and compromised trust transpire with black box algorithms. These worries connect epistemic concerns with normative issues. In this paper, we outline that black box algorithms are less problematic for epistemic reasons than many scholars seem to believe. By outlining that more transparency in algorithms is not always necessary, and by explaining that (...) computational processes are indeed methodologically opaque to humans, we argue that the reliability of algorithms provides reasons for trusting the outcomes of medical artificial intelligence. To this end, we explain how computational reliabilism, which does not require transparency and supports the reliability of algorithms, justifies the belief that results of medical AI are to be trusted. We also argue that several ethical concerns remain with black box algorithms, even when the results are trustworthy. Having justified knowledge from reliable indicators is, therefore, necessary but not sufficient for normatively justifying physicians to act. This means that deliberation about the results of reliable algorithms is required to find out what is a desirable action. Thus understood, we argue that such challenges should not dismiss the use of black box algorithms altogether but should inform the way in which these algorithms are designed and implemented. When physicians are trained to acquire the necessary skills and expertise, and collaborate with medical informatics and data scientists, black box algorithms can contribute to improving medical care. (shrink)

Clinical judgment, also called clinical reasoning, clinical decision-making, and diagnostic-therapeutic decision-making, lies at the heart of clinical practice and thus medicine. In thepast, clinical judgment was considered the expert task of the physician. But the advent of computers in the 1940s and their use in medicine as of the late 1950s gradually changed this situation. In the 1960s, a new discipline emerged that has come to be termed medical computer science or medical informatics, including clinical informatics. (...) Clinical informatics is concerned with all aspects of the application of computing machinery in clinical research and practice. As one of its accomplishments in clinical practice, the physician’s capacity for clinical judgment is in the process of being turned over to computers. We are told that computers will be responsible for making diagnoses and treatment decisions in a not-too-distant future. This prospect, its historical, methodological and philosophical background, and its impact on health care will be discussed in the present Part VI which divides into these three chapters: 19 Medical Decision-Making 20 Clinical Decision Support Systems 21 Artificial Intelligence in Medicine? (shrink)

BackgroundThe globalization of medical science carries for doctors worldwide a correlative duty to deepen their understanding of patients' cultural contexts and religious backgrounds, in order to satisfy each as a unique individual. To become better informed, practitioners may turn to MedLine, but it is unclear whether the information found there is an accurate representation of culture and religion. To test MedLine's representation of this field, we chose the topic of death and dying in the three major monotheistic religions.MethodsWe searched (...) MedLine using PubMed in order to retrieve and thematically analyze full-length scholarly journal papers or case reports dealing with religious traditions and end-of-life care. Our search consisted of a string of words that included the most common denominations of the three religions, the standard heading terms used by the National Reference Center for Bioethics Literature (NRCBL), and the Medical Subject Headings (MeSH) used by the National Library of Medicine. Eligible articles were limited to English-language papers with an abstract.ResultsWe found that while a bibliographic search in MedLine on this topic produced instant results and some valuable literature, the aggregate reflected a selection bias. American writers were over-represented given the global prevalence of these religious traditions. Denominationally affiliated authors predominated in representing the Christian traditions. The Islamic tradition was under-represented.ConclusionMedLine's capability to identify the most current, reliable and accurate information about purely scientific topics should not be assumed to be the same case when considering the interface of religion, culture and end-of-life care. (shrink)

In this article, consultation via the Internet and the use of the Internet as a source of medical information is examined from an ethical point of view. It is argued that important ethical aspects of the clinical interaction, such as dialogue and trust will be difficult to realise in an Internet-consultation. Further, it is doubtful whether an Internet doctor will accept responsibility. However, medical information via the Internet can be a valuable resource for patients wanting to know more (...) about their disease and, thus, it is a means to enhancing their autonomy. (shrink)

Faced with the exponential development of Big Data and both its legal and economic repercussions, we are still slightly in the dark concerning the use of digital information. In the perpetual balance between confidentiality and transparency, this data will lead us to call into question how we understand certain paradigms, such as the Hippocratic Oath in medicine. As a consequence, a reflection on the study of the risks associated with the ethical issues surrounding the design and manipulation of this "massive (...) data" seems to be essential. This book provides a direction and ethical value to these significant volumes of data. It proposes an ethical analysis model and recommendations to better keep this data in check. This empirical and ethico-technical approach brings together the first aspects of a moral framework directed toward thought, conscience and the responsibility of citizens concerned by the use of data of a personal nature. Defines Big Data applications in health Presents the ethical value of the medical datasphere via the description of a model of an ethical analysis of Big Data Provides the recommendations and steps necessary for successful management and governance of personal health data Helps readers determine what conditions are essential for the development of the study of Big Data. (shrink)

The General Medical Council (GMC) instructs doctors to act ‘reasonably’ in obtaining consent from patients. However, the GMC does not explain what it means to be reasonable: it is left to doctors to figure out the substance of this instruction. The GMC relies on the Supreme Court’s judgment in Montgomery v Lanarkshire Health Board; and it can be assumed that the judges’ idea of reasonability is adopted. The aim of this paper is to flesh out this idea of reasonability. (...) This idea is commonly personified as the audience that has to be satisfied by the doctor’s justification for offering, or withholding, certain treatments and related information. In case law, this audience shifted from a reasonable doctor to a ‘reasonable person in the patient’s position’; and Montgomery expands the audience to include ‘particular’ patients, too. Senior judges have clarified that the reasonable person is a normative ideal, and not a sociological construct; but they do not set out the characteristics of this ideal. John Rawls has conceived the reasonable person-ideal as one that pursues fair terms of co-operation with other members of society. An alternative ideal can be inferred from the feminist ethic of care. However, the reasonable patient from Montgomery does not align with either theoretical ideal; but, instead, is an entirely rational being. Such a conception conflicts with both real-life constraints on rationality and the doctor’s duty to care for the patient, and it challenges the practice of medicine. (shrink)

I. Introductory Comments   The Human Genome Project will be completed within 2 years, and “targeted†sequence data from the most promising sections of the genome will be released even sooner. Based on this wealth of information, at least 400 new genetic tests will become available within the next decade. The blending of microelectronic and genetic technology will make the “genetic report card†an affordable and routine part of medical care. The implicit assumption driving much of this push (...) for genetic testing is that information is inherently good and patients should have the right to any information about themselves they desire. However, the informational content of genetic tests for most conditions is not known and may in fact be very low. Under such circumstances, it seems prudent to treat access to genetic testing the same way we currently treat access to other new medical procedures and drugs – that is, access is afforded only 1) in the context of a clinical trial or  2) after the safety and effectiveness of the treatment has been established. The fact is, genetic “information†of uncertain quality is not innocous. II. The Difficulty with Genetic Testing   Everyone is familiar with one difficulty posed by genetic testing: the possibility that a test may show either a “false positive†or a “false negativeâ€.  This is the problem of the analytic accuracy of testing. However, as our analytic techniques become more sophisticated, the incidence of such errors will steadily decline. If nothing else, administration of multiple tests is often (though not always) a simple and effective way of boosting analytic accuracy.   There is, however, a much more serious accuracy problem which has been largely overlooked in the literature.. (shrink)

Background The globalization of medical science carries for doctors worldwide a correlative duty to deepen their understanding of patients' cultural contexts and religious backgrounds, in order to satisfy each as a unique individual. To become better informed, practitioners may turn to MedLine, but it is unclear whether the information found there is an accurate representation of culture and religion. To test MedLine's representation of this field, we chose the topic of death and dying in the three major monotheistic religions. (...) Methods We searched MedLine using PubMed in order to retrieve and thematically analyze full-length scholarly journal papers or case reports dealing with religious traditions and end-of-life care. Our search consisted of a string of words that included the most common denominations of the three religions, the standard heading terms used by the National Reference Center for Bioethics Literature (NRCBL), and the Medical Subject Headings (MeSH) used by the National Library of Medicine. Eligible articles were limited to English-language papers with an abstract. Results We found that while a bibliographic search in MedLine on this topic produced instant results and some valuable literature, the aggregate reflected a selection bias. American writers were over-represented given the global prevalence of these religious traditions. Denominationally affiliated authors predominated in representing the Christian traditions. The Islamic tradition was under-represented. Conclusion MedLine's capability to identify the most current, reliable and accurate information about purely scientific topics should not be assumed to be the same case when considering the interface of religion, culture and end-of-life care. (shrink)

Medical terminology collects and organizes the many different kinds of terms employed in the biomedical domain both by practitioners and also in the course of biomedical research. In addition to serving as labels for biomedical classes, these names reflect the organizational principles of biomedical vocabularies and ontologies. Some names represent invariant features (classes, universals) of biomedical reality (i.e., they are a matter for ontology). Other names, however, convey also how this reality is perceived, measured, and understood by health professionals (...) (i.e., they belong to the domain of epistemology). We analyze terms from several biomedical vocabularies in order to throw light on the interactions between ontological and epistemological components of these terminologies. We identify four cases: 1) terms containing classification criteria, 2) terms reflecting detectability, modality, uncertainty, and vagueness, 3) terms created in order to obtain a complete partition of a given domain, and 4) terms reflecting mere fiat boundaries. We show that epistemology-loaded terms are pervasive in biomedical vocabularies, that the “classes” they name often do not comply with sound classification principles, and that they are therefore likely to cause problems in the evolution and alignment of terminologies and associated ontologies. (shrink)

The law of informed consent to medical treatment has recently been extensively overhauled in England. The 2015 Montgomery judgment has done away with the long-held position that the information to be disclosed by doctors when obtaining valid consent from patients should be determined on the basis of what a reasonable body of medical opinion agree ought to be disclosed in the circumstances. The UK Supreme Court concluded that the information that is material to a patient’s decision should instead (...) be judged by reference to a new two-limbed test founded on the notions of the ‘reasonable person’ and the ‘particular patient’. The rationale outlined in Montgomery for this new test of materiality, and academic comment on the ruling’s significance, has focused on the central ethical importance that the law now accords to respect for patient autonomy in the process of obtaining consent from patients. In this paper, we dispute the claim that the new test of materiality articulated in Montgomery equates with respect for autonomy being given primacy in re-shaping the development of the law in this area. We also defend this position, arguing that our revised interpretation of Montgomery’s significance does not equate with a failure by the courts to give due legal consideration to what is owed to patients as autonomous decision-makers in the consent process. Instead, Montgomery correctly implies that doctors are ethically obliged to attend to a number of relevant ethical considerations in framing decisions about consent to treatment, which include subtle interpretations of the values of autonomy and well-being. Doctors should give appropriate consideration to how these values are fleshed out and balanced in context in order to specify precisely what information ought to be disclosed to a patient as a requirement of obtaining consent, and as a core component of shared decision-making within medical encounters more generally. (shrink)

Access to abortion care has been hugely affected by the COVID-19 pandemic. This has prompted several governments to permit the use of telemedicine for fully remote care pathways, thereby ensuring pregnant people are still able to access services. One such government is that of England, where these new care pathways have been publicly scrutinised. Those opposed to telemedical early medical abortion care have raised myriad concerns, though they largely centre on matters of patient safeguarding. It is argued that healthcare (...) professionals cannot adequately carry out their safeguarding duties if the patient is not in the room with them. These concerns lack empirical support. Emerging evidence suggests that safeguarding processes may, in fact, be more effective within telemedical abortion care pathways. In this article, we address two specific safeguarding concerns: (1) that a remote consultation prevents a healthcare professional from identifying instances of abuse, and (2) that healthcare professionals cannot reliably confirm the absence of coercion during a remote consultation. We demonstrate that such concerns are misplaced, and that safeguarding may actually be improved in telemedical care pathways as victims of abuse may find it easier to engage with services. It is inevitable that some individuals will fall through the net, but this is unavoidable even with in-person care and thus does not constitute a strong critique of the use of telemedicine in abortion care. These safeguarding concerns set aside, then, we argue that the current approval that enables telemedical early medical abortion should be afforded permanence. (shrink)

Rising health insurance costs and the cost of living crisis are likely leading to an increase in unpaid health insurance bills in many countries. In Switzerland, a particularly drastic measure to sanction defaulting insurance payers is employed. Since 2012, Swiss cantons – who have to cover most of the bills of defaulting payers - are allowed by federal law to blacklist them and to restrict their access to medical care to emergencies.In our paper, we briefly describe blacklisting in the (...) context of the Swiss healthcare system before we examine the ethical issues involved in light of what is known about its social and health impacts. We found no evidence that blacklisting serves as an effective way of recovering unpaid health insurance contributions or of strengthening solidarity within the health insurance system. Furthermore, the ambiguous definitions of what constitutes an emergency treatment and the incompatibility of the denial of medical care with the obligation to provide professional assistance complicate the implementation of blacklists and expose care providers to enormous pressure.Therefore, we conclude that blacklists and the (partial) denial of medical care not only pose profound ethical problems but are also unsuitable for fulfilling the purpose for which they were introduced. (shrink)

In a time marked by the development of innovative treatments in healthcare and the need for health professionals to deal with resulting ethical dilemmas in clinical practice, this study was developed to determine the influence of the bioethics teaching on the moral competence of medical and nursing students. The authors conduct a longitudinal study using the Moral Competence Test extended version before and after attending the ethics curricular unit, in three nursing schools and three medical schools of Portugal. (...) In this questionnaire the participant is confronted with three ethical dilemmas and asked to evaluate arguments for and against the attitude of the main character. For both nursing and medical students, C-score was lower after the attendance of the ethics curricular units, with a statistically significant decrease in the total score for nursing students and a decrease not statistically significant for medical students. A multivariate analysis did not find any association between this decrease and gender, course, or age. The phenomenon of moral segmentation was observed, with better performance in the worker and judge dilemma, than in the doctor dilemma. These results highlight the need to reflect on the curricular strategies that can be implemented for health professionals to better develop moral competence and decision-making, allowing for the provision of humanized health care. (shrink)

We present the details of a methodology for quality assurance in large medical terminologies and describe three algorithms that can help terminology developers and users to identify potential mistakes. The methodology is based in part on linguistic criteria and in part on logical and ontological principles governing sound classifications. We conclude by outlining the results of applying the methodology in the form of a taxonomy different types of errors and potential errors detected in SNOMED-CT.

“Wicked” problems are characterized by intractable complexity, uncertainty, and conflict between individuals or institutions, and they inhabit almost every corner of medical ethics. Despite wide acceptance of the same ethical principles, we nevertheless disagree about how to formulate such problems, how to solve them, what would _count_ as solving them, or even what the possible solutions _are_. That is, we don’t always know how best to implement ethical ideals in messy real-world contexts. I sketch an implementation framework for (...) class='Hi'>medical ethics that can help clarify wicked problems and organize further ethics research toward their resolutions. This framework describes the procedural variables that work alongside substantive ethical ideals to deliver ethical decisions in complex real-world situations. Using controversial GM mosquito research as an example, I illustrate how the generalizable relationships between the variables clarify emerging ethical guidelines of research governance and provide a pathway to extend these guidelines in a way consistent with our ethical intuitions across a wide range of research and public health ethics. (shrink)

The case of Charlie Gard sparked an ongoing public and academic debate whether in court decisions about medical treatment for children in England & Wales the best interests test should be replaced by a harm threshold. However, the literature has scantly considered (1) what the impact of such a replacement would be on future litigation and (2) how a harm threshold should be introduced: for triage or as standard for decision-making. This article directly addresses these gaps, by first analysing (...) reported cases in England & Wales about medical treatment in the context of a S31 order, thus using a harm threshold for triage and second comparing court decisions about medical treatment for children in England & Wales based on the best interest test with Dutch and German case law using a harm threshold. The investigation found that whilst no substantial increase of parental discretion can be expected an introduction of a harm threshold for triage would change litigation. In particular, cases in which harm is limited, currently only heard when there are concerns about parental decision-making, may be denied a court hearing as might cases in which the child has lost their capacity to suffer. Applying a harm threshold for triage in decisions about withholding or withdrawing life-sustaining treatment might lead to a continuation of medical treatment that could be considered futile. (shrink)

We introduce the Vital Sign Ontology (VSO), an extension of the Ontology for General Medical Science (OGMS) that covers the consensus human vital signs: blood pressure, body temperature, respiratory rate, and pulse rate. VSO provides a controlled structured vocabulary for describing vital sign measurement data, the processes of measuring vital signs, and the anatomical entities participating in such measurements. VSO is implemented in OWL-DL and follows OBO Foundry guidelines and best practices. If properly developed and extended, we believe the (...) VSO will find applications for the EMR, clinical informatics, and medical device communities. (shrink)

Healthcare provision, like many other sectors of society, is undergoing major changes due to the increased use of data-driven methods and technologies. This increased reliance on big data in medicine can lead to shifts in the norms that guide healthcare providers and patients. Continuous critical normative reflection is called for to track such potential changes. This article presents the results of an interview-based study with 20 German and Swiss experts from the fields of medicine, life science research, informatics and (...) humanities of digitalisation. The aim of the study was to explore expert opinions regarding current challenges and opportunities related to data-driven medicine and medical research and to provide a methodological framework for empirically grounded, continuous normative reflection. To this end, we developed a heuristic tool to map and structure empirical findings for normative analysis. Using this tool, our interview material points to a polarisation between individualistic and collectivistic orientated argumentations among experts. The study shows that a multilevel analysis is required to deal with complex normative implications of data-driven approaches in medical research and healthcare. (shrink)

In a series of papers over a period of several years Barry Smith andWerner Ceusters have offered a number of cogent criticisms of historical approaches to creating, maintaining, and applying biomedical terminologies and ontologies. And they have urged the adoption of what they refer to as a “realism-based” approach. Indeed, at times they insist that the realism-based approach not only offers clear advantages and a well-founded methodological basis for ontology development and evaluation, but that such a realist perspective is in (...) fact necessary for understanding and using terminologies and ontologies in science. -/- This paper explores a number of questions surrounding such claims, provides a careful characterization of the type of realism recommended by Smith and Ceusters, and evaluates the role that realism plays in the critiques and recommendations that they offer. The conclusion reached is that while Smith’s and Ceusters’ criticisms of prior practice in the treatment of ontologies and terminologies in medical informatics are often both perceptive and well founded, and while at least some of their own proposals demonstrate obvious merit and promise, none of this either follows from or requires the brand of realism that they propose. (shrink)

The collaboration of Language and Computing nv (L&C) and the Institute for Formal Ontology and Medical Information Science (IFOMIS) is guided by the hypothesis that quality constraints on ontologies for software ap-plication purposes closely parallel the constraints salient to the design of sound philosophical theories. The extent of this parallel has been poorly appreciated in the informatics community, and it turns out that importing the benefits of phi-losophical insight and methodology into application domains yields a variety of improvements. (...) L&C’s LinKBase® is one of the world’s largest medical domain ontologies. Its current primary use pertains to natural language processing ap-plications, but it also supports intelligent navigation through a range of struc-tured medical and bioinformatics information resources, such as SNOMED-CT, Swiss-Prot, and the Gene Ontology (GO). In this report we discuss how and why philosophical methods improve both the internal coherence of LinKBase®, and its capacity to serve as a translation hub, improving the interoperability of the ontologies through which it navigates. (shrink)

Recent medical informatics and sociological literature has painted the image of a new type of patient—one that is reflexive and informed, with highly specified information needs and perceptions, as well as highly developed skills and tactics for acquiring information. Patients have been re-named “reflexive consumers.” At the same time, literature about the questionable reliability of web-based information has suggested the need to create both user tools that have pre-selected information and special guidelines for individuals to use to check (...) the individual characteristics of the information they encounter. In this article, we examine suggestions that individuals must be assisted in developing skills for “reflexive consumerism” and what these particular skills should be. Using two types of data (discursive data from websites and promotional items, and supplementary data from interviews and ethnographic observations carried out with those working to sustain these initiatives), we examine how users are directly addressed and discussed. We argue that these initiatives prescribe skills and practices that extend beyond finding and assessing information on the internet and demonstrate that they include ideals of consumerism and citizenship. (shrink)

Experts in medical informatics have argued for the incorporation of ever more machine-learning algorithms into medical care. As artificial intelligence research advances, such technologies raise the possibility of an “iDoctor,” a machine theoretically capable of replacing the judgment of primary care physicians. In this article, I draw on Martin Heidegger’s critique of technology to show how an algorithmic approach to medicine distorts the physician–patient relationship. Among other problems, AI cannot adapt guidelines according to the individual patient’s needs. (...) In response to the objection that AI could develop this capacity, I use Hubert Dreyfus’s analysis of AI to argue that attention to the needs of each patient requires the physician to attune his or her perception to the patient’s history and physical exam, an ability that seems uniquely human. Human physician judgment will remain better suited to the practice of primary care despite anticipated advances in AI technology. (shrink)

The Foundational Model of Anatomy (FMA) symbolically represents the structural organization of the human body from the macromolecular to the macroscopic levels, with the goal of providing a robust and consistent scheme for classifying anatomical entities that is designed to serve as a reference ontology in biomedical informatics. Here we articulate the need for formally clarifying the is-a and part-of relations in the FMA and similar ontology and terminology systems. We diagnose certain characteristic errors in the treatment of these (...) relations and show how these errors can be avoided through adoption of the formalism we describe. We then illustrate how a consistently applied formal treatment of taxonomy and partonomy can support the alignment of ontologies. (shrink)

Experts in medical informatics have argued for the incorporation of ever more machine-learning algorithms into medical care. As artificial intelligence research advances, such technologies raise the possibility of an “iDoctor,” a machine theoretically capable of replacing the judgment of primary care physicians. In this article, I draw on Martin Heidegger’s critique of technology to show how an algorithmic approach to medicine distorts the physician–patient relationship. Among other problems, AI cannot adapt guidelines according to the individual patient’s needs. (...) In response to the objection that AI could develop this capacity, I use Hubert Dreyfus’s analysis of AI to argue that attention to the needs of each patient requires the physician to attune his or her perception to the patient’s history and physical exam, an ability that seems uniquely human. Human physician judgment will remain better suited to the practice of primary care despite anticipated advances in AI technology. (shrink)

Background: Systematized Nomenclature of Medicine—Clinical Terms (SNOMED CT, hereafter abbreviated SCT) is acomprehensive medical terminology used for standardizing the storage, retrieval, and exchange of electronic healthdata. Some efforts have been made to capture the contents of SCT as Web Ontology Language (OWL), but theseefforts have been hampered by the size and complexity of SCT. Method: Our proposal here is to develop an upper-level ontology and to use it as the basis for defining the termsin SCT in a way that (...) will support quality assurance of SCT, for example, by allowing consistency checks ofdefinitions and the identification and elimination of redundancies in the SCT vocabulary. Our proposed upper-levelSCT ontology (SCTO) is based on the Ontology for General Medical Science (OGMS). Results: The SCTO is implemented in OWL 2, to support automatic inference and consistency checking. Theapproach will allow integration of SCT data with data annotated using Open Biomedical Ontologies (OBO) Foundryontologies, since the use of OGMS will ensure consistency with the Basic Formal Ontology, which is the top-levelontology of the OBO Foundry. Currently, the SCTO contains 304 classes, 28 properties, 2400 axioms, and 1555annotations. It is publicly available through the bioportal athttp://bioportal.bioontology.org/ontologies/SCTO/. Conclusion: The resulting ontology can enhance the semantics of clinical decision support systems and semanticinteroperability among distributed electronic health records. In addition, the populated ontology can be used forthe automation of mobile health applications. (shrink)

In order to develop the ontology of tendencies for use in the representation of medical knowledge, tendencies are compared with other kinds of entities possessing the realizable-realization-structure, specifically: dispositions, propensities, abilities and virtues. The peculiarities of tendencies are discussed and a standard schema of tendency ascription is developed in order to represent the relations between the ascriptions of tendency tokens to particulars and the ascriptions of tendency types to universals. Two non-standard cases and their epistemic variants are discussed.

BackgroundSystems medicine is the name for an assemblage of scientific strategies and practices that include bioinformatics approaches to human biology ; “big data” statistical analysis; and medical informatics tools. Whereas personalized and precision medicine involve similar analytical methods applied to genomic and medical record data, systems medicine draws on these as well as other sources of data. Given this distinction, the clinical translation of systems medicine poses a number of important ethical and epistemological challenges for researchers working (...) to generate systems medicine knowledge and clinicians working to apply it.DiscussionThis article focuses on three key challenges: First, we will discuss the conflicts in decision-making that can arise when healthcare providers committed to principles of experimental medicine or evidence-based medicine encounter individualized recommendations derived from computer algorithms. We will explore in particular whether controlled experiments, such as comparative effectiveness trials, should mediate the translation of systems medicine, or if instead individualized findings generated through “big data” approaches can be applied directly in clinical decision-making. Second, we will examine the case of the Riyadh Intensive Care Program Mortality Prediction Algorithm, pejoratively referred to as the “death computer,” to demonstrate the ethical challenges that can arise when big-data-driven scoring systems are applied in clinical contexts. We argue that the uncritical use of predictive clinical algorithms, including those envisioned for systems medicine, challenge basic understandings of the doctor-patient relationship. Third, we will build on the recent discourse on secondary findings in genomics and imaging to draw attention to the important implications of secondary findings derived from the joint analysis of data from diverse sources, including data recorded by patients in an attempt to realize their “quantified self.”SummaryThis paper examines possible ethical challenges that are likely to be raised as systems medicine to be translated into clinical medicine. These include the epistemological challenges for clinical decision-making, the use of scoring systems optimized by big data techniques and the risk that incidental and secondary findings will significantly increase. While some ethical implications remain still hypothetical we should use the opportunity to prospectively identify challenges to avoid making foreseeable mistakes when systems medicine inevitably arrives in routine care. (shrink)

Objectives: Machine learning (ML) has the potential to facilitate “continual learning” in medicine, in which an ML system continues to evolve in response to exposure to new data over time, even after being deployed in a clinical setting. In this article, we provide a tutorial on the range of ethical issues raised by the use of such “adaptive” ML systems in medicine that have, thus far, been neglected in the literature. -/- Target audience: The target audiences for this tutorial are (...) the developers of ML AI systems, healthcare regulators, the broader medical informatics community, and practicing clinicians. -/- Scope: Discussions of adaptive ML systems to date have overlooked the distinction between 2 sorts of variance that such systems may exhibit—diachronic evolution (change over time) and synchronic variation (difference between cotemporaneous instantiations of the algorithm at different sites)—and underestimated the significance of the latter. We highlight the challenges that diachronic evolution and synchronic variation present for the quality of patient care, informed consent, and equity, and discuss the complex ethical trade-offs involved in the design of such systems. (shrink)

This textbook introduces the reader to basic problems in the philosophy of science and ethics, mainly by means of examples from medicine. It is based on the conviction that philosophy, medical science, medical informatics, and medical ethics are overlapping disciplines. It claims that the philosophical lessons to learn from the twentieth century are not that nature is a 'social construction' and that 'anything goes' with respect to methodological and moral rules. Instead, it claims that there is (...) scientific knowledge, but that it is never completely secure; that there are norms, but that they are situation-bound; and that, therefore, it makes good sense to search for scientific truths and try to act in a morally decent way. Using philosophical catchwords, the authors advocate 'fallibilism' and 'particularism'; a combination that might be called 'pragmatic realism'. (shrink)

Cancer treatment decisions should be based on all available evidence. But this evidence is complex and varied: it includes not only the patient’s symptoms and expert knowledge of the relevant causal processes, but also clinical databases relating to past patients, databases of observations made at the molecular level, and evidence encapsulated in scientific papers and medical informatics systems. Objective Bayesian nets offer a principled path to knowledge integration, and we show in this chapter how they can be applied (...) to integrate various kinds of evidence in the cancer domain. This is important from the systems biology perspective, which needs to integrate data that concern different levels of analysis, and is also important from the point of view of medical informatics. (shrink)

The desideratum of semantic interoperability has been intensively discussed in medical informatics circles in recent years. Originally, experts assumed that this issue could be sufficiently addressed by insisting simply on the application of shared clinical terminologies or clinical information models. However, the use of the term ‘ontology’ has been steadily increasing more recently. We discuss criteria for distinguishing clinical ontologies from clinical terminologies and information models. Then, we briefly present the role clinical ontologies play in two multicentric research (...) projects. Finally, we discuss the interactions between these different kinds of knowledge representation artifacts and the stakeholders involved in developing interoperational real-world clinical applications. We provide ontology engineering examples from two EU-funded projects. (shrink)

General Ontological Language (GOL) is a formal framework for representing and building ontologies. The purpose of GOL is to provide a system of top-level ontologies which can be used as a basis for building domain-specific ontologies. The present paper gives an overview about the basic categories of the GOL-ontology. GOL is part of the work of the research group Ontologies in Medicine (Onto-Med) at the University of Leipzig which is based on the collaborative work of the Institute of Medical (...) Informatics (IMISE) and the Institute for Computer Science (IfI). It represents work in progress toward a proposal for an integrated family of top-level ontologies and will be applied to several fields of medicine, in particular to the field of Clinical Trials. (shrink)

MedDRA (the Medical Dictionary for Regulatory Activities Terminology) is a controlled vocabulary widely used as a medical coding scheme. However, MedDRA’s characterization of its structural hierarchy exhibits some confusing and paradoxical features. The goal of this paper is to examine these features, determine whether there is a coherent view of the MedDRA hierarchy that emerges, and explore what lessons are to be learned from this for using MedDRA and similar terminologies in a broad medical informatics context (...) that includes relations among multiple disparate terminologies, thesauri, and ontologies. (shrink)

Cancer treatment decisions should be based on all available evidence. But this evidence is complex and varied: it includes not only the patient’s symptoms and expert knowledge of the relevant causal processes, but also clinical databases relating to past patients, databases of observations made at the molecular level, and evidence encapsulated in scientific papers and medical informatics systems. Objective Bayesian nets offer a principled path to knowledge integration, and we show in this chapter how they can be applied (...) to integrate various kinds of evidence in the cancer domain. This is important from the systems biology perspective, which needs to integrate data that concern different levels of analysis, and is also important from the point of view of medical informatics. (shrink)

This paper presents work in progress on artificial intelligence in medicine (AIM) within the larger context of cognitive science. It introduces and develops the notion ofemergence both as an inevitable evolution of artificial intelligence towards machine learning programs and as the result of a synergistic co-operation between the physician and the computer. From this perspective, the emergence of knowledge takes placein fine in the expert's mind and is enhanced both by computerised strategies of induction and deduction, and by software abilities (...) to dialogue, co-operate and function as a cognitive extension of the physician's intellectual capabilities. The proposed methodology gives the expert a prominent role which consists, first, of faithfully enunciating the descriptive features of his medical knowledge, thus giving the computer a precise description of his own perception of basic medicine, and secondly, of painstakingly gathering patients into computerised case bases which simulate exhaustive long-term memory. The AI capacities for knowledge elaboration are then triggered, giving rise to mathematically optimal diagnoses, prognoses, or treatment protocols which the physician may then evaluate, accept, reject, or adapt at his convenience, and finally append to a knowledge base. The idea of emergence embraces many issues concerning the purpose and intent of artificial intelligence in medical practice. Particularly, we address the representation problem as it is raised by classical decisional knowledge-based systems, and develop the notions of classifiers and hybrid systems as possible answers to this problem. Finally, since the whole methodology touches the problem of technological investment in health care, now inherent in modern medical practice, some ethical considerations accompany the exposé. (shrink)