'New' genetics meets the old underclass: Findings from a study of genetic outreach services in rural Kentucky

One of the most serious, but least examined, issues arising at the intersection of the 'new' genetics and public health is the relationship between social class and genetic burden. In the USA, concerns in ethics, policy and public discourses about genetic medicine and class structure have frequently been expressed in the notion of a potential 'genetic underclass'. The paper explores the usefulness of the genetic underclass metaphor for framing intersections of genetics and social disadvantage. Data are drawn from preliminary analysis of in-depth interviews with mothers of children affected with a genetic condition or illness, as part of a broader study of the state-funded Genetic Outreach Program serving rural Kentucky. The first section of the paper briefly considers the notion of the genetic underclass as it has appeared in medical ethics and policy literatures. It is argued that the mechanisms of access and discrimination to which the genetic underclass concept is attached are not likely to be those through which the new genetics significantly reinforces or exacerbates social disadvantage. Little direct evidence currently exists to substantiate the notion of a genetically unemployable or uninsurable underclass. However, theoretical dimensions associated with the underclass as it appears in social stratification literature do suggest ways of examining dynamics of genetic conditions and social disadvantage. In the second section of the paper, drawing from these dimensions and through cases analyses, issues and processes are identified that will be of importance to understanding relationships between social disadvantage and public health genetics.     

From what and why did genetics emerge as a medical specialism in the 1970s in the UK? A case-history of research, policy and services in the Manchester region of the NHS. National Health Service.

The history of genetics has concentrated on eugenics in the first half of the 20th century and molecular genetics in the second. There is yet little historical analysis of the emergence of genetics as a medical specialism, even for the USA. This paper explores the creation of a regional genetic service in Manchester, UK. It surveys the ways in which hereditary diseases were managed and investigated in the first two decades of the NHS (1948-68), and the marginality of geneticists in this period. It suggests that the emergence of consultant geneticists as conspicuous service specialists depended heavily on their ability to create and control laboratory and counselling services for antenatal diagnosis, especially of Down's syndrome, from the late 1960s. These services, for syndromes that were not strongly hereditary, helped extend the meaning of 'genetic' in medicine from 'hereditary' to 'related to chromosomes and genes'. The services received government support because of popular demand for diagnoses (following the Abortion Act of 1967), because 'preventive services' were seen as cost effective, and because geneticists could argue that inadequate counselling might give rise to legal difficulties. By linking laboratory services and counselling, geneticists offered an integrated service, in line with other consultant-led services (e.g. for kidneys) which linked research, laboratory services, clinical work, and education/public health functions. We suggest such services fitted the hospital-dominated political economy of medicine which underlay the NHS re-organisation of 1974; and that the salience of the new genetics owed much to this combination of high-science and public concern. Geneticists were then able to integrate molecular genetics into key regional centres, so shaping the initial phases of the 'molecular' revolution. We maintain that this local study offers useful wider insights, not only into the development of a key specialism, but also into the changing dynamics of research and policy in the NHS.     

Does Argumentation Matter? A Systematic Literature Review on the Role of Argumentation in Doctor–Patient Communication

In view of a growing interest in argumentative discourse in the context of patient-centered consultation and shared decision making, this article explores the role that argumentation has been attributed in the literature on doctor–patient consultation so far. It studies to what extent theories and concepts of argumentation have been applied by scholars from various fields in order to analyze, understand, facilitate, and improve the argumentative nature of medical consultation. It reports on an extensive and systematic literature search—using eight online databases, expert suggestions, and a manual search—and the subsequent evaluation of 1,330 abstracts on the basis of strict inclusion and exclusion criteria. Forty relevant scientific contributions are grouped into four main categories and discussed accordingly: (a) argumentation theory, (b) discourse analysis, (c) medical informatics, and (d) medical ethics. Because of its systematic approach, this study forms a solid starting point for further integration of argumentation theoretical insights into contemporary views of patient-centered medicine and evidence-based medicine. It provides suggestions for further interdisciplinary and theory-driven research with a strong focus on empirical reality. Doing so, a preliminary model is proposed that outlines the potential effects of the quality of doctors’ communication on proximal, intermediate, and long-term consultation outcomes.     

The new genetics and its consequences for family,kinship, medicine and medical genetics

In the past several decades there has been an explosion in our understanding of genetics. The new genetics is an integral part of contemporary biomedicine and promises great advances in alleviating disease, prolonging human life and leading us unto the medicine of the future. The aim of this paper is to explore the ways in which people make sense of the uncertainties that are associated with the new genetics, which by definition involve family and kinship relations. We explore the degree to which medical genetics places the patient in a double bind between the qualitative certainty and quantitative uncertainty of genetic inheritance that reinforce notions both of fear, and control of a person's future health. Second, we propose that the new genetics has medicalized family and kinship creating profound ethical and practical dilemmas for both the individual and for medicine as a whole.     

A critical look at the new genetics: Conceptualizing the links between reproduction,gender and bodies

Shaped by an understanding of the impact of biotechnology on medical practice, this paper highlights some of the key issues that become visible in a critical analysis of the relationship between reproduction and genetics. The term 'reproductive genetics' is used sociologically and defined as the utilization of DNA-based technologies in the medical supervision of the reproductive process. Based on an empirical study of European experts, the paper is divided into two parts. First, it looks at the mobilization of genetics through surveillance medicine and the favouring of risk avoidance. Second, it highlights how a mechanistic view of the body is privileged in reproductive genetics. The central assumption, running throughout, is that the science of genetics is a part of disciplinary process, offering a limited view of the human body. This disciplinary process tends to conceal that what may appear as 'flawed genes' is all about bodies' interactions with their surroundings as well as gendered social customs valorized by difference and inflexible definitions of health and illness.     

The new genetics and the politics of public health

The new genetics promises a new kind of public health practice in which the health of populations is defined by freedom from risk of genetic disease. This paper critically examines a number of assumptions underlying the genetic conception of health and discusses some likely implications of the increasing use of the technologies of genetic screening and genetic counselling in the fulfilment of public health objectives. It examines concepts of the body, the self and society underlying the search for genetic-based disease, and it unpacks the rhetoric of the ‘right to know’ and ‘informed choice’ which characterizes the discourse of the new genetics. The paper also explores some implications of the focus on ‘the family’ in genetic counselling, drawing particular attention to new inter-personal responsibilities and obligations implied by the need to know about the genetic health of one's family members and future offspring. The paper concludes by stressing the need for a thoroughgoing appraisal of the impact of the new genetics on public health practice.     

Dilemmas in fetal medicine: premature application of technology or responding to women's choice?

It is argued that innovative health technologies (IHTs) may be changing the roles of both patients and health practitioners, and raising new issues, including ethical, legal and social dilemmas. This paper focuses on the innovative area of fetal medicine. All fetal treatment necessitates accessing the fetus through the pregnant woman's body, and non-surgical treatments have long been a part of pregnancy care. However, recent developments in this area, including the increasing routinisation of sophisticated antenatal ultrasound screening and the introduction of treatments including fetal surgery, may mark a shift in this specialty. The paper explores such shifts from the perspectives of medical and midwifery practitioners working in two Fetal Medicine Units. It examines the apparent effects of the orientation of fetal medicine on prevalent conceptualisations of the maternal-fetal relationship, and some of the consequences of this. It is argued that new forms of uncertainty, including complex risk and diagnostic information, and uncertain prognostic predictions set within the rhetoric of non-directive counselling and women's choice, are leading to unprecedented ethical dilemmas within this area. More widespread debate about such potential dilemmas needs to take place before, rather than following their introduction.     

Levinas's ethics as a basis of healthcare – challenges and dilemmas

Levinas's ethics has in the last decades exerted a significant influence on Nursing and Caring Science. The core of Levinas's ethics – his analyses of how our subjectivity is established in the ethical encounter with our neighbour or the Other – is applied both to healthcare practice and in the project of building an identity of Nursing and Caring Science. Levinas's analyses are highly abstract and metaphysical, and also non‐normative. Thus, his analyses cannot be applied directly to practical problems and questions. Theorists in Nursing and Caring Science are generally aware of this. Nevertheless, many of them use Levinas's analyses to explore and solve questions of practical and normative character. This article focuses on the challenges and dilemmas of using Levinas in this manner. The article is divided into two parts. The first part presents some central ideas of Levinas's ethics based on the latter part of his authorship. The main focus is on the radicalism of Levinas's critique of the symbolic order (which includes concepts, categories, knowledge, etc.) – or as he puts it ‘the said’ – as a basis for subjectivity and responsibility. Levinas's notions of saying, anarchy, and singularity accentuate this point of view. These notions refer to conditions in the language, which counteract the symbolic order in the ethical encounter to such an extent that it becomes an incomprehensible. Levinas gives the argumentation a metaphysical frame: The encounter with the incomprehensible is an encounter with the Holy, which is not the ontological God, but a metaphysical desire. It is a mystery as to what this means, and herein lies possibly the main challenge when using Levinas's ethics in science and research: How to maintain the radicalism of his critique of the symbolic order when this is to be communicated in a scientific context that expects clarification of statements and ideas? The second part of the article explores this question by examining how some theorists use Levinas's ethics on questions and problems in the area of healthcare and Nursing and Caring Science. The focus is especially on the theorists' reception and use of the just mentioned notions. The study reveals that these theorists to a large extent transform Levinas's ethics according to their own approaches, with the result that his ethics loses its critical radicalism. Thus, I question the reason why they use Levinas.     

Family stories and the use of heuristics: women from suspected hereditary breast and ovarian cancer (HBOC) families

Abstract The practice of medicine will increasingly be medicine of the family rather than the traditional physician/patient dyad, especially where a genetic condition is involved. This study explores how clients from suspected hereditary breast and ovarian cancer (HBOC) families seeking cancer genetics risk counselling are influenced by family stories and the use of heuristics (inferential shortcuts used to make sense of complicated information) in interpreting and applying genetic information they receive, and suggests ways in which genetic counsellors can integrate family context into their traditional counselling practices. We conducted an exploratory, qualitative study at a major clinical and research cancer centre in the United Kingdom from January to June 2000 which was reviewed by the hospital clinical research and ethics committees. Twenty‐one semi‐structured, in‐depth interviews were conducted using a purposive sample of women coming to the cancer genetics clinic for the first time, supplemented by five months of clinical observation at weekly clinics. In addition to many family stories based on the number and outcomes of the cancers in their families, we noted: (1) fragments of stories, (2) secret stories, (3) emerging explanations and (4) misconceptions. We did not find widespread intergenerational family myths. The women used three main heuristics in interpreting their breast/ovarian cancer risk: (1) representativeness, (2) availability and (3) illusion of control, as well as what Kahneman refers to as the Peak and End rule. Recent psychological research indicates that illusions of control may have positive affects on both physical and mental health. This may pose a future ethical issue for genetic counsellors in determining how to balance the benefit of positive illusions with the delivery of statistical probabilities of risk.     

Health ethics in Pakistan: a literature review of its present state

National literature on ethics provides an insight into the nature and development of a dialogue on health issues within a population. This study investigated the health ethics discourse in Pakistan. The purpose was to critically reflect on the nature and level of such discussions with the aim of stimulating an interest in the ethical implications of health and medicine in developing countries. The study evaluated the literature on biomedical and health ethics published in Pakistan during 1988-1999. Overall, there is a dearth of published discourse on healthcare ethics in Pakistan. Values that are considered to stem from religious teachings predominate in discussions relating to medical ethics. A lack of effective policy and legislation concerning the ethical practice of medicine is reported to have negative effects on the profession. Research ethics has not been captured in the published papers in Pakistan. Consideration of ethical issues in health is at an early stage in the country and may reflect the situation in a large part of the developing world.     

Obstetrician-gynecologists' opinions and attitudes on the role of genetics in women's health

Our objective was to describe gynecologists' current practice patterns and opinions on genetic screening and their perceived importance of genetic screening within individual practices. A questionnaire survey was sent to 1248 American College of Obstetrics and Gynecology (ACOG) Fellows, of whom 564 (45%) responded. Results from the 428 respondents providing genetic screening for heritable diseases or disorders are reported. Forty-four percent of respondents believe advances in the treatment of genetic diseases are likely in the next 10 years. Currently, however, genetics in gynecological practice receives infrequent attention. Twenty-four percent of respondents do not routinely review family histories at gynecological visits, 39% rate genetic issues as last among priorities in the office, and only 14% obtain consent for the DNA tests that they initiate. Although 21.3% identified themselves as sole providers of genetic information and counseling to their patients, most (65.4%) note they are not confident of their knowledge of genetics, particularly concerning breast and ovarian cancer. For obstetrician-gynecologists to keep pace with the rapid changes in genetics, further education and assimilation of genetics into the routine office practice will need to occur. Not currently viewed as a priority among practitioners, issues of genetic knowledge, ethics, and test interpretation will soon need attention. National organizations, continuing medical education, and existing genetic centers will need to meet these recognized demands.     

Public health,genetics and ethics

Genetics research has shown enormous developments in recent decades, although as yet with only limited clinical application. Bioethical analysis has been unable to deal with the vast problems of genetics because emphasis has been put on the principlism applied to both clinical and research bioethics. Genetics nevertheless poses its most complex moral dilemmas at the public level, where a social brand of ethics ought to supersede the essentially interpersonal perspective of principlism. A more social understanding of ethics in genetics is required to unravel issues such as research and clinical explorations, ownership and patents, genetic manipulation, and allocation of resources. All these issues require reflection based on the requirements of citizenry, consideration of common assets, and definition of public policies in regulating genetic endeavors and protecting the society as a whole Bioethics has privileged the approach to individual ethical issues derived from genetic intervention, thereby neglecting the more salient aspects of genetics and social ethics.     

The impact of genetic technologies on perceptions of disability

Advances in human genetics will profoundly affect many medical specialties, including obstetrics, genetics, internal medicine, pediatrics and family medicine. Studies show that communication between health care professionals and patients is biased, in part, by the professionals' prior experiences, knowledge, and attitudes toward disability. Little research has been performed to assess these attitudes in the context of genetic disability. The authors present: (1) a brief overview of the development in genetic technologies and disability, (2) a review of the literature around health care provider knowledge and attitudes focusing on disability, (3) a discussion of current disability education in medical curricula, and (4) suggestions for preparing health care providers to deal with issues of genetics and disability.     

Ethik in der medizinischen Aus- und Weiterbildung

Ethics education is a topic of growing importance in the medical curriculum. Medical ethics can be defined as the skilled professional discourse on moral issues in patient care, medical research and the health-care system. Ethical competence comprises conscientiousness and the ability to give reasons for intuitive moral convictions. In the curriculum, course content and didactic approaches should be aimed at all levels (cognitive, affective, practical), as discussed in this paper. Case based seminars are the gold standard of ethics education. The teacher's responsibility is rooted in their character as role models during case discussions. Ethics education should continue throughout the curriculum. In Germany the compulsory subject "history, theory, ethics of medicine" is predominant in the curriculum, but courses vary greatly between different universities. Further research is needed in the fields of adequate assessment formats and evaluation of final outcomes of ethics education. Interprofessional ethics education (undergraduate and postgraduate) is a major challenge for the future, especially since services for clinical ethics consultation and moral case deliberation are becoming more established in German hospitals.     

From ‘silent’ to ‘heard’: Professional mediation,manipulation and women's experiences of their body after an abnormal Pap smear

While there is a large body of research on cervical cancer screening, fewer studies address the experiences of women receiving abnormal Pap smear results after routine screening. Those studies highlighting such experiences tend to concentrate on resulting psychosocial distress, with an absence in the literature about women's experiences of their bodies during medical follow-up for dysplasia, and no studies were found that explore such experiences over time. In this article, we focus on bodily experiences over time during medical follow-up of an abnormal Pap smear among a group of women in Sweden. This qualitative analysis is based on interview data from a total of 30 women, and with in-depth analysis of the content of 34 transcribed interviews with nine women who were followed longitudinally. We found that medical follow-up involved an experience of both “having” and “being” a body, which changed over time. Women described a process that ranged from having a cervix that was neither felt, ‘heard’, nor seen, to having a body that became known to them first indirectly through professional mediation and later through direct experience after professional manipulation. The conceptualization of bodily boundaries appeared to change, e.g. through visualization of the previously unfamiliar cervix, pain, vaginal discharge, and bleeding, as well as linkages to the bodies of women in their extended families through the generations. Thus, bodily experiences appear to be an intrinsic part of medical follow-up of an abnormal Pap smear through which health, disease, and risks in the past, present, and future were reconceptualised.     

Ethical issues for cancer screenings. Five countries--four types of cancer

In recent years, medical ethics has become an undisputed part of medical studies. Many people believe that modern advances in medical technology--such as the development of dialysis machines, respirators, magnetic resonance imaging, and genetic testing and types of cancer screenings--have created the bioethical dilemmas that confront physicians in the 21st century. Debates over research and screening ethics have until recently revolved around two related questions: the voluntary, informed consent of subjects, and the appropriate relationship between risk and benefit to subjects in the experiment. Every patient has a right to full and accurate information about his or her medical condition. This legal principle arose primarily through court decisions concerning informed consent, but over time, physicians recognized that most patients prefer to learn the truth about their condition and use the information well. To screen is to search for disease in the absence of symptoms or, in other words, to attempt to find disease in someone not thought to have a disease. Examples of screening include routine mammography to detect breast cancer, routine Pap smears to detect cervical cancer and routine prostate specific antigen (PSA) testing to detect prostate cancer. Ethical principles to be followed in cancer screening programs are intended mainly to minimize unnecessary harm to the participating individuals. Numerous ethical questions can be raised about the practice of screening for disease. This paper reviews recommendation for cancer screening from five countries, examine them from an ethical perspective, and make conclusion from this analysis.     

THE MORAL ETHOS OF MEDICAL EDUCATION

The moral ethos of medial education refers to the fundamental values that pervade the field of medical education. There has been a dramatic expansion of both interest and activities related to the broad field of biomedical ethics, due largely to the sociocultural forces that have emerged as powerful influences during the last generation. In considering the ways in which ethics appears in medical education, it is necessary to consider first how it appears in the world of medicine. Dr Edmund Pellegrino provides us with a philosophy of medicine that is a thoughtful starting point for ethics in medicine. We then proceed to consider the field of clinical ethics, the place of ethics in the care of communities or populations, how these fields appear in medical education, and finally how these issues might relate to the ethical development of academic medical centres.     

Hopes and concerns of a first-year medical school class

Summary. To assess the hopes and concerns of first-year medical students, the 1991 Oregon Health Sciences University (OHSU) Medical School class was surveyed during orientation. Using qualitative research methods, student responses were grouped into general categories. The most common ‘hopes’ were to provide personal care and develop relationships with patients, to attain self-fulfilment, and to enjoy the personal challenge and variety of medicine. Common ‘concerns’ were family issues, outside intervention into medicine, and loss of self. The hopes and concerns of this class revolve primarily around personal issues, rather than issues relating to their local community or to society. This information may be useful in student counselling and curriculum development. Further research is necessary to evaluate changes in this class's attitudes over time. The methodology of this study may be useful in the evaluation of the attitudes of subsequent first-year medical school classes at OHSU, and at other institutions.     

Centenary of the Health Council of the Netherlands. V. Ethical-social issues

Since its inception, the Health Council of the Netherlands has included normative aspects in its reports. Over the past decades, ethics and rights have received increasing attention, particularly since the establishment of the Standing Committee on Medical Ethics and Health Law in 1977. In particular, the ethical implications of bio-molecular life sciences (genetic counselling, genetic screening, research with human embryos) have been discussed in the Council's publications. The Council has also been involved from an early stage in the euthanasia discussion. It is accepted that policy advice concerning scientific developments implies normative considerations. However, the extent to which the Council's role is simply to highlight these considerations or to present conclusions remains a recurring question. In the latter case, priority is often given to the principle of respect for autonomy, while underestimating the significance of solidarity.