Society has historically not taken a benign view of genetic disease. The laws permitting sterilization of the mentally re tarded~ and those proscribing consanguineous marriages are but two examples. Indeed as far back as the 5th-10th centuries, B.C.E., consanguineous unions were outlawed (Leviticus XVIII, 6). Case law has traditionally tended toward the conservative. It is reactive rather than directive, exerting its influence only after an individual or group has sustained injury and brought suit. In contrast, state legislatures have not been (...) inhibited in enacting statutes. Many of their products can be characterized as hasty, unnecessary, ill-conceived, and based on the heart rather than the head. Moreover the lack of expert consultation sought has also been remarkable. One state legislature, for example, has advocated immunization for sickle cell anemia! Many others have enacted laws for the screening of inborn errors of metabolism, e.g., phenylketon uria, but have poorly defined the lines of responsibility to secure compliance. A spate of specific disease-related bills has emerged in the u.S. Congress, each seeking recognition and appropriations. Sickle cell anemia, hemophilia, Cooley's anemia and Tay-Sachs disease have been among the front-runners for support. Finally, in 1975, Congress has begun to examine an omnibus bill concerning all forms of genetic disease. The bill, termed the National Genetic Diseases Act is, however, still far from being enacted. (shrink)

This book involves an in-depth analysis of the ethical, political and philosophical issues related to health-oriented screening programs.

The hypothesis that administering a diagnostic test to an asymptomatic population can detect a relevant proportion of prevalent cases in an early phase and therefore improve the chances of curing disease dates back to the sixties and has been tested and applied mainly to neoplastic diseases. Meanwhile, the practice of screening has benefitted from the progress of diagnostic technology and from the development, particularly in Europe, of efficient national health systems.Half a century later, two Swedish researchers, Niklas Juth and Christian (...) Munthe, undertake the task of reexamining various aspects of screening practices in light of the ethical justification of this secondary prevention tool. Their analysis encompasses all public health actions in which the personal benefit is contrasted with collective health considerations. Screening generates such doubts and conflicts, which are inherently ethical.The publication could be split in two parts. The first is a long section, mainly infor .. (shrink)

Africa is a continent in transition amidst a revival of cultural practices. Over previous years the continent was robbed of the benefits of medical advances by unfounded cultural practices surrounding its cultural heritage. In a fast moving field like genetic screening, discussions of social and policy aspects frequently need to take place at an early stage to avoid the dilemma encountered by Western medicine. This paper, examines the potential challenges to genetic screening in Africa. It discusses how cultural practices (...) may affect genetic screening. It views genomics science as a culture which is trying to diffuse into another one. It argues that understanding the existing culture will help the diffusion process. The paper emphasizes the importance of genetic screening for Africa, by assessing the current level of burden of diseases in the continent and shows its role in reducing disease prevalence. The paper identifies and discusses the cultural challenges that are likely to confront genetic screening on the continent, such as the worldview, rituals and taboos, polygyny, culture of son preference and so on. It also discusses cultural practices that may promote the science such as inheritance practices, spouse selection practices and naming patterns. Factors driving the cultural challenges are identified and discussed, such as socialization process, patriarchy, gender, belief system and so on. Finally, the paper discusses the way forward and highlights the ethical considerations of doing genetic screening on the continent. However, the paper also recognizes that African culture is not monolithic and therefore makes a case for exceptions. (shrink)

A recent study by Castellani et al. (JAMA 302(23):2573–2579, 2009) describes the population-level effects of the choices of individuals who underwent molecular carrier screening for cystic fibrosis (CF) in Veneto, in the northeastern part of Italy, between 1993 and 2007. We discuss some of the ethical issues raised by the policies and individual choices that are the subject of this study. In particular, (1) we discuss the ethical issues raised by the acquisition of genetic information through antenatal carrier testing; (2) (...) we consider whether by choosing to procreate naturally these couples can harm the resulting child and/or other members of society, and what the moral implications of such harm would be; (3) we consider whether by choosing to avoid natural procreation carrier couples can harm current or future individuals affected by cystic fibrosis; (4) we discuss whether programs that make carrier testing available can be considered eugenic programs. (shrink)

A hallmark of good antenatal care is to respect prospective parent’s choices and provide information in a way that encourages their autonomy and informed decision making. In this paper, we analyse the meaning of autonomous and informed decision making from the theoretical perspective and attempt to show how those concepts are described among prospective parents in early pregnancy and in the public media in a society where NT screening is almost a norm. We use interviews with Icelandic prospective parents in (...) early pregnancy (N = 40) and material covering the discourse around prenatal screening in the media over 5 years period. Our analysis indicates that both prospective parents and the public media include ethical terms in their rhetoric around prenatal screening although those concepts differ in their expression. We conclude that the context in which these decisions are taken does not encourage moral reflection. Prospective parents describe that there is a lack of dialogue with professionals when decisions are made about screening. With routine offer of screening the conceptualization of bioethical concepts finds its own way through a mainstream discourse which has limited connections to the theoretical notions. This has been neglected in the implementation of screening, as limited effort has been subject to audit with reference to explore how the offer of screening and informed choice is experienced among prospective parents. (shrink)

Putnam says that "In one way of conceiving it, realism is an empirical theory." In the present work it is maintained that, in another way of conceiving it, realism is a grammatical thesis. That is, many of the principles taken to be definitive of realism, e.g., "Truth is objective," "Truth is mind-independent," Dummett's "a thought can be true only if there is something in virtue of which it is true," are what Wittgenstein would have called "grammatical remarks." They simply call (...) attention to certain features of the grammar of truth and related concepts. Thus, e.g., it is a feature of the way we use "is true" that statements are not spoken of as true for one person and not true for another. ;The character of grammar and of grammatical remarks in general is spelled out in some detail; it is argued in particular that Wittgenstein is not intending to provide, by means of these notions, a particular account of necessary truth. He is suggesting, rather, that looking upon certain philosophical claims as grammatical is a way of "deflating" them, stripping them of their appearance of profundity. Neither can grammatical remarks imply substantive philosophical theses. This is why realism, conceived as comprising grammatical remarks, does not imply scepticism, as is often supposed, and is not itself a controversial or exciting doctrine. ;There are of course some controversial formulations of realism, versions which are not simply underwritten by grammar. Thus some philosophers have held that, because the truth conditions of a proposition are essentially independent of any evidence we may have for the proposition, truth may not be accessible at all. I believe, however, that Putnam has shown, by means of an argument which is instructively viewed as a grammatical investigation, that truth is accessible, at least to an "ideal" theory. ;Recent expressions of idealism are argued to provide helpful accounts of language use and understanding, but fail to establish that truth is nothing but warranted assertibility, or that it must in some sense "arise within us." Such a conclusion runs afoul of the grammar of truth, of which realism is shown to provide the proper account. (shrink)

Abstractabstract:In The Trusted Doctor: Medical Ethics and Professionalism (2020), Rosamond Rhodes presents a new theory of medical ethics based on 16 duties she considers central to medical ethics and professionalism. She asserts that her theory is "bioethical heresy," as it contradicts established "principlism" and "common morality" approaches to ethics in medicine. Rhodes advocates the development of parallelism between clinical and ethical decision-making and a systematic approach that emphasizes duties over principles and rules to facilitate the development of a "doctorly (...) character" among medical decision-makers. Rhodes further asserts that her theory and approach necessitate the cultivation of virtues contained in Aristotle's Nicomachean Ethics. But Rhodes's insistence that "medical professionals," not just doctors, are covered by her theory is open to critique, as is her conflation of ethic and morals, especially around the question of the "doctorly character" upon which her duty-based theory hinges. This assessment argues that applicants to medical schools and allied health training programs be screened for specific virtues—honesty, diligence, curiosity, and compassion—to facilitate reinforcement of these pre-professionalized inclinations throughout the habituation processes of medical training. This would increase the probability of turning fear and hope to cure and care via reasoning and affective models performed within an ethical medical framework—even while what this ethical framework should reference remains under debate. (shrink)

„Früh entdecken, effizienter therapieren!“ — Die innereLogik des Früherkennungskonzeptes ist äußerst öffentlichkeitswirksam und wird von den unterschiedlichsten medizinischen und gesellschaftlichen Institutionen unterstützt. In dieser Arbeit werden die vorrangig medizin-ethischen und wissenschaftstheoretischen Bedingungen untersucht, die erfüllt sein müssten, damit sich die Theorie einer Krebsfrüherkennung zum Wohl des Patienten umsetzen lässt: Wer ist kompetent, den jeweils stochastisch zu interpretierenden Nutzen und Schaden adäquat gegeneinander abzuwägen? Was sind angemessene Evaluationsparameter? Gibt es Grenzen der Informationsvermittlung in einer partnerschaftlichen Arzt-Patienten-Beziehung? Vor dem Hintergrund der früherkennungsspezifischen (...) Relativität von medizinischem Wissen und der unklaren Nutzenbestimmung stellt sich die Frage, wie verantwortungsvolles ärztliches Handeln aussehen kann. Der alleinige Hinweis auf die ärztliche Pflicht zur Aufklärung und Stärkung der Eigenverantwortung von Patienten verliert sich dabei zum Teil in paradoxen Scheinlösungen. Durch die genannten Probleme in der Krebsfrüherkennung wird deutlich, dass die Bedingungen für die Möglichkeit von patientenorientierter Informationsvermittlung nur schwer erfüllbar sind. (shrink)

Prenatal screening for foetal abnormalities such as Down's syndrome differs from other forms of population screening in that the usual aim of achieving health gains through treatment or prevention does not seem to apply. This type of screening leads to no other options but the choice between continuing or terminating the pregnancy and can only be morally justified if its aim is to provide meaningful options for reproductive choice to pregnant women and their partners. However, this aim should not be (...) understood as maximizing reproductive choice per se. Only if understood as allowing prospective parents to avoid suffering related to living with (a child with) serious disorders and handicaps can prenatal screening be a publicly or collectively funded programme. The alternative of moving prenatal testing outside the healthcare system into the private sector is problematic, as it makes these tests accessible only to those who can afford to pay for it. New developments in prenatal screening will have to be assessed in terms of whether and to what extent they either contribute to or undermine the stated aim of providing meaningful options for reproductive choice. In the light of this criterion, this article discusses the introduction of the new non‐invasive prenatal test (NIPT), the tendency to widen the scope of follow‐up testing, as well as the possible future scenarios of genome‐wide screening and ‘prenatal personalised medicine’. The article ends with recommendations for further debate, research and analysis. (shrink)

BackgroundHealth screening is undertaken to identify individuals who are deemed at higher risk of disease for further diagnostic testing so that they may possibly benefit from interventions to modify the natural course of disease. In Singapore, screening tests are widely available in the form of a package, which bundles multiple tests in one session and commonly includes non-recommended tests. There are various ethical issues associated with such testing as they may not be clinically appropriate and can result in more harm (...) than benefit. This article describes the practice of health screening packages, identifies the ethical issues arising from such packages and discusses the implications of these ethical issues on policy and practice of screening in Singapore.MethodsA content analysis of the websites of providers offering general health screening packages to individuals was conducted. A total of 14 health screening package providers were analysed for how packages were conducted and promoted, how clinically appropriate screening tests were, and the price range and composition of screening packages. A normative ethical analysis based on the four principles approach of beneficence, non-maleficence, autonomy and justice in biomedical ethics was used.ResultsTwelve of the 14 providers included non-recommended tests such as tumour markers, treadmill stress tests and MRI scans in their general health screening packages. Package prices ranged from S$26 to S$10,561, with providers charging higher when more tests were included. Health screening packages were broadly conducted in three stages: the offer and selection of a health screening package; medical assessment and performance of screening tests; a post-screening review. While material provided by all providers was factual, there was no information on the potential risks or harms of screening.ConclusionSeveral ethical issues were identified that should be addressed with regard to health screening packages in Singapore. A key issue was the information gap between providers and patients, which may result in patients undergoing inappropriate testing that may be more harmful than beneficial. Health screening packages can stimulate unnecessary demand for healthcare and contribute to an inequitable distribution of healthcare resources. (shrink)

Recently, an agonizing twist intersecting predictive genetic tests and surrogacy contracts made news headlines in Canada. The intended parents, a couple from British Columbia, instructed the surrogate mother with whom they were working to undergo First Trimester Screening and Chorionic Villi Sampling, which revealed the fetus likely had Down syndrome. The parents directed the surrogate to terminate the fetus or they would abdicate their parental claim upon birth. This story raised numerous legal and ethical questions relating to the transferability of (...) decision making for prenatal screening, diagnostic tests, and the connected decision of termination when additional interested parties – the intended parents – are involved in the medical decision-making relationship. First, although the surrogate is the patient, what are the implications when the intended parents' wishes influence or even dictate the relationship between her and her obstetrician and genetic counselor? Second, if the intended parents' level of authority reaches explicit demands, may the intended parents ethically and legally require the surrogate to waive her right to informed consent for prenatal screening and diagnosis? (shrink)

November 2009’s announcement of the USPSTF’s recommendations for screening for breast cancer raised a firestorm of objections. Chief among them were that the panel had insufficiently valued patients’ lives or allowed cost considerations to influence recommendations. The publicity about the recommendations, however, often either simplified the actual content of the recommendations or bypassed significant methodological issues, which a philosophical examination of both the science behind screening recommendations and their import reveals. In this article, I discuss two of the leading ethical (...) considerations at issue in screening recommendations: respect for patient autonomy and beneficence and then turn to the most significant methodological issues raised by cancer screening: the potential biases that may infect a trial of screening effectiveness, the problem of base rates in communicating risk, and the trade-offs involved in a judgment of screening effectiveness. These issues reach more broadly, into the use of “evidence-based” medicine generally, and have important implications for informed consent. (shrink)

Prenatal screening for foetal abnormalities such as Down's syndrome differs from other forms of population screening in that the usual aim of achieving health gains through treatment or prevention does not seem to apply. This type of screening leads to no other options but the choice between continuing or terminating the pregnancy and can only be morally justified if its aim is to provide meaningful options for reproductive choice to pregnant women and their partners. However, this aim should not be (...) understood as maximizing reproductive choice per se. Only if understood as allowing prospective parents to avoid suffering related to living with serious disorders and handicaps can prenatal screening be a publicly or collectively funded programme. The alternative of moving prenatal testing outside the healthcare system into the private sector is problematic, as it makes these tests accessible only to those who can afford to pay for it. New developments in prenatal screening will have to be assessed in terms of whether and to what extent they either contribute to or undermine the stated aim of providing meaningful options for reproductive choice. In the light of this criterion, this article discusses the introduction of the new non-invasive prenatal test , the tendency to widen the scope of follow-up testing, as well as the possible future scenarios of genome-wide screening and ‘prenatal personalised medicine’. The article ends with recommendations for further debate, research and analysis. (shrink)

This two-step argument first establishes that the majority of recent American films dealing with mental illness draw on a traditional iconography of madness as it has been established over the centuries in Western culture. In this vocabulary of images, the mad are typically seen as wise fools, as dangerous villains or as gifted geniuses. The author then argues that some of these new films add a fourth category in which the mad are defined as normal and the person with autism (...) as the embodiment of this normalcy. A close examination of the films then suggests that high functioning autism has become the embodiment of America’s current cultural condition. (shrink)

Medical mistrust has a well‐documented harmful impact on a range of patients’ health behaviors and outcomes. It can have such egregious downstream effects on so many aspects of medicine—from clinical trial participation to health care use, timely screening, organ donation, and treatment adherence—that it is sometimes described as one of the social determinants of health. In the article “Trust, Risk, and Race in American Medicine,” Laura Specker Sullivan makes the compelling case that trust is essential to building a (...) therapeutic alliance in which effective, high‐quality health care can be delivered and received. As a complement to her suggestion that health care providers take an active role in mitigating mistrust by demonstrating “not only their capacity to be honest and forthright but also their ability to respond to the potential truster's needs,” we recommend that key health care professionals commit to five actions. (shrink)

Due to the potential ethical and psychological implications of screening, and especially inregard of screening on children without available and acceptable therapeutic measures, there is a common view that such procedures are not advisable. As part of an independent research- and bioethical case study, our aim was therefore to explore and describe bioethical issues among a representative sample of participant families (n = 17,055 children) in the ABIS (All Babies In South-east Sweden) research screening for Type 1 diabetes (IDDM).The primary (...) aim is the identification of risk factors important for the development of diabetes and other multifactorial immune-mediated diseases. Four hundred, randomly chosen, participant mothers were asked to complete a questionnaire exploring issues of information, informed consent, bio-material, confidentiality and autonomy, and of prevention/intervention. 293 completed the questionnaire, resulting in a response rate of 73.3%. The majority of questions had the form of 6-point Likert-type response scales (1–6).We found that the majority of respondents felt calm in regard of samples and written material, and also concerning the possibility of their child in the future being identified as having high risk of developing Type 1 diabetes. An important finding concerning access and control of mainly biological data was indicated, with the respondents expressing concern for potential future use. We believe our findings indicate that this kind of empirical studies can substantially contribute to our understanding of bioethical issues of medical research involving genetics. Issues, such as safeguards ensuring theethical criteria of autonomy and respect, were emphasised by our respondents. We believe theissues brought up may promote further discussion, and do suggest issues for consideration by, among others, researchers, bioethicists and Institutional Review Boards. (shrink)

Informed decision-making (IDM) is considered an important ethical and legal requirement for population-based screening. Governments offering such screening have a duty to enable invitees to make informed decisions regarding participation. Various views exist on how to define and measure IDM in different screening programmes. In this paper we first address the question which components should be part of IDM in the context of cancer screening. Departing from two diverging interpretations of the value of autonomy—as a right and as an ideal—we (...) describe how this value is operationalized in the practice of informed consent in medicine and translate this to IDM in population-based cancer screening. Next, we specify components of IDM, which is voluntariness and the requirements of disclosure and understanding. We argue that whereas disclosure should contain all information considered relevant in order to enable authentic IDM, understanding of basic information is sufficient for a valid IDM. In the second part of the paper we apply the capability approach in order to argue for the responsibility of the government to warrant equal and real opportunities for invitees for IDM. We argue that additional conditions beyond mere provision of information are needed in order to do so. (shrink)

Meeting in the petri dish? -- Screen, test, weed out? -- Prettier, better, stronger? -- Is health a duty? -- The crisis of confidence in organ donation -- On the value of age : beyond the fitness imperative -- Living wills : are forms replacing dialogue? -- Being able to let go : for a new culture of dying -- Epilogue: happiness lies in our attitude toward the world.

Book reviewed in this article: Coping with Genetic Disorders. By John C. Fletcher. Genetics, Ethics and Parenthood. Edited by Karen Lebacqz. Screening and Counseling for Genetic Conditions: The Ethical, Social, and Legal Implications of Genetic Screening, Counseling, and Education Programs. A report of the President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research.

Die forensische Kinder- und Jugendpsychiatrie steht in einem komplexen Spannungsfeld medizinischer, rechtlicher und sozialer Anforderungen. Die ethischen Herausforderungen, die sich daraus für den stationären Maßnahmenvollzug ergeben, sind bisher kaum untersucht, spezifische Hilfestellungen für Behandelnde fehlen. Diese Studie hat zum Ziel, ethische Themenfelder und Probleme in diesem Bereich zu identifizieren und ein Instrument zur Früherkennung und -intervention ethischer Probleme im Klinikalltag zu entwickeln. Methode: Eine systematische Literaturrecherche sowie eine Beobachtungstudie in der Jugendforensik der Universitären Psychiatrischen Kliniken Basel werden durchgeführt. Die Beobachtungsdaten (...) werden mittels qualitativer Inhaltsanalyse ausgewertet. Das Instrument wird auf der Basis der Resultate nach einer neuen Methode entwickelt. In der Literaturrecherche wurden 14 valide Publikationen identifiziert, die hauptsächlich ethische Probleme der Gerichtspsychiatrie thematisieren wie professionelle Rollenkonflikte, ethische Probleme der Diagnostik und Begutachtung oder der Umgang mit vertraulichen Informationen. Empirische oder empirisch-normative Studien fehlen. In der Beobachtungsstudie wurden 24 ethische Themen und spezifische Probleme identifiziert, besonders häufig sind ethische Fragen zu Moralkompetenzen der Jugendlichen, zur Behandlungsqualität, zum Umgang mit Regeln und Sanktionen und zur Freiheits- und Privatsphäre. Das Instrument zur Früherkennung und -intervention ethischer Probleme enthält die vier Kernelemente Risikofaktoren, Indikatoren, Interventionsplanung und Entscheidungsfindung. Der Maßnahmenvollzug der forensischen Kinder- und Jugendpsychiatrie offenbart ein breites Spektrum ethischer Themen mit spezifischen ethischen Problemen, welche in der Literatur bisher nur unzureichend untersucht sind. Das hier entwickelte Instrument FIEP unterstützt Behandelnde dabei, ethische Probleme frühzeitig zu erkennen und effizient zu bearbeiten. (shrink)

Background and aim Child and adolescent forensic psychiatry is fraught with complex medical, legal, and social tensions. The ethical challenges this entails for inhospital treatment have hardly been investigated, and specific support for health care professionals is lacking. This study identifies ethical issues and problems in this area and develops a tool for early detection and intervention of ethical problems in clinical practice. Methods A systematic literature search and an observational study in adolescent forensics at the University Psychiatric Clinics Basel (...) are conducted. The observation data are evaluated using a qualitative content analysis. The instrument is developed based on the results using a new method. Results In the literature search, 14 valid publications were identified that mainly address ethical conflicts in legal psychiatry, such as professional role conflicts, ethical problems in diagnostics and assessment, or confidentiality issues. Empirical or empirical–normative studies are missing. In the observational study, 24 ethical issues and specific conflicts were identified. Ethical questions about moral competencies of the adolescents, the quality of treatment, the handling of rules and sanctions, and freedom and privacy are particularly common. The Instrument for Early Detection and Intervention of Ethical Problems (FIEP) contains the four core elements risk factors, indicators, intervention planning and decision-making. Conclusions Inhospital treatment in forensic child and adolescent psychiatry reveals a broad spectrum of ethical issues with specific ethical problems, which are hardly investigated in literature so far. The FIEP instrument developed here supports health care practitioners in recognizing ethical problems at an early stage and addressing them efficiently. (shrink)

Cytogenetic research has had a major impact on the field of reproductive medicine, providing an insight into the frequency of chromosomal abnormalities that occur during gametogenesis, embryonic development and pregnancy. In humans, aneuploidy has been found to be relatively common during fetal life, necessitating prenatal screening of high‐risk pregnancies. Aneuploidy rates are higher still during the preimplantation stage of development. An increasing number of IVF laboratories have attempted to improve pregnancy rates by using preimplantation genetic diagnosis (PGD) to ensure (...) that the embryos transferred to the mother are chromosomally normal. This paper reviews some of the techniques that are key to the detection of aneuploidy in reproductive samples including comparative genomic hybridization (CGH). CGH has provided an unparalleled insight into the nature of chromosome imbalance in human embryos and polar bodies. The clinical application of CGH for the purposes of PGD and the future extensions of the methodology, including DNA microarrays, are discussed. BioEssays 25:289–300, 2003. © 2003 Wiley Periodicals, Inc. (shrink)

Spinal muscular atrophy (SMA) is the most common genetic disease that causes infant mortality. Its treatment and prevention represent the paradigmatic example of the ethical dilemmas of 21st‐century medicine. New therapies (nusinersen and AVXS‐101) hold the promise of being able to treat, but not cure, the condition. Alternatively, genomic analysis could identify carriers, and carriers could be offered in vitro fertilization and preimplantation genetic diagnosis. In the future, gene editing could prevent the condition at the embryonic stage. How should (...) these different options be evaluated and compared within a health system? In this paper, we discuss the ethical considerations that bear on the question of how to prioritize the different treatments and preventive options for SMA, at a policy level. We argue that despite the tremendous value of what we call ‘ex‐post’ approaches to treating SMA (such as using pharmacological agents or gene therapy), there is a moral imperative to pursue ‘ex‐ante’ interventions (such as carrier screening in combination with prenatal testing and preimplantation genetic diagnosis, or gene editing) to reduce the incidence of SMA. There are moral reasons relating to autonomy, beneficence and justice to prioritize ex‐ante methods over ex‐post methods. (shrink)

Are the small and indolent cancers found in abundance in cancer screening normal variations, risk factors, or disease? Naturalists in philosophy of medicine turn to pathophysiological findings to decide such questions objectively. To understand the role of pathophysiological findings in disease definition, we must understand how they mislead in diagnostic reasoning. Participants on all sides of the definition of disease debate attempt to secure objectivity via reductionism. These reductivist routes to objectivity are inconsistent with the Bayesian nature of clinical (...) reasoning; when they appeal to the sciences, they are inconsistent with what philosophy of biology tells us about its natural kinds. Proposals that we narrow the scope of our claims in the disease definition debates are useful, but paradigms can still distort our reasoning in particular cases, even when we are self-conscious about their status. (shrink)

Context: Despite much research on informed choice and the individuals’ autonomy in organised medical screening, little is known about the individuals’ decision-making process as expressed in their own words.Objectives: To explore the decision-making process among women invited to a mammography screening programme.Setting: Women living in the counties of Sør- and Nord-Trøndelag, Norway, invited to the first round of the Norwegian Breast Cancer Screening Program in 2003.Methods: Qualitative methods based on eight semistructured focus-group interviews with a total of 69 women aged (...) 50–69 years.Results: The decision to attend mammography screening was not based on the information in the invitation letter and leaflet provided by the NBCSP. They perceived the invitation letter with a prescheduled appointment as if a decision for mammography had already been made. This was experienced as an aid in overcoming the postponements that easily occur in daily lives. The invitation to mammography screening was embraced as an indication of a responsible welfare state, “like a mother taking care.”Conclusion: In a welfare state where governmental institutions are trusted, mass screening for disease is acknowledged by screening participants as a valued expression of paternalism. Trust, gratitude, and convenience were more important factors than information about benefits, harms, and risks when the women made their decisions to attend screening. These elements should be included in the ethical debates on informed choice in preventive medicine. (shrink)

Due to the potential ethical and psychological implications of screening, and especially inregard of screening on children without available and acceptable therapeutic measures, there is a common view that such procedures are not advisable. As part of an independent research- and bioethical case study, our aim was therefore to explore and describe bioethical issues among a representative sample of participant families (n = 17,055 children) in the ABIS (All Babies In South-east Sweden) research screening for Type 1 diabetes (IDDM).The primary (...) aim is the identification of risk factors important for the development of diabetes and other multifactorial immune-mediated diseases. Four hundred, randomly chosen, participant mothers were asked to complete a questionnaire exploring issues of information, informed consent, bio-material, confidentiality and autonomy, and of prevention/intervention. 293 completed the questionnaire, resulting in a response rate of 73.3%. The majority of questions had the form of 6-point Likert-type response scales (1–6).We found that the majority of respondents felt calm in regard of samples and written material, and also concerning the possibility of their child in the future being identified as having high risk of developing Type 1 diabetes. An important finding concerning access and control of mainly biological data was indicated, with the respondents expressing concern for potential future use. We believe our findings indicate that this kind of empirical studies can substantially contribute to our understanding of bioethical issues of medical research involving genetics. Issues, such as safeguards ensuring theethical criteria of autonomy and respect, were emphasised by our respondents. We believe theissues brought up may promote further discussion, and do suggest issues for consideration by, among others, researchers, bioethicists and Institutional Review Boards. (shrink)

During the 1940s in America, as medicine became more research-focused, medical researcher heroes were described as devotedly pursuing miraculous medicine. At the same time, Hollywood thrived, and films were an effective means to help build the myth of the physician hero. Cinematic techniques, rather than only the narrative, of four films, Dr. Arrowsmith, The Story of Louis Pasteur, Dr. Ehrlich’s Magic Bullet, and Dr. Jekyll and Mr. Hyde, are discussed to understand how they helped construct the image of (...) the physician hero, both in terms of what they were and what they were not. (shrink)

Proceedings of a one day symposium for medical professionals with an interest in, or with a responsibility for, the development of ante-natal screening, fetal medicine and the provision of termination of pregnancy, held on 26 September 1996 at the Royal Society of Medicine, London. The objectives of the symposium were: to provide an occasion for the discussion of the clinical and ethical issues involved in screening for fetal abnormality and in providing the options of continuing the pregnancy or (...) abortion; to clarify good practice in respect of late abortion for fetal abnormality; to discuss the problems of providing a service sympathetic to women. (Author). (shrink)

This article is written in response to the idea that selective termination may be eugenic. It points out that a mixture of motives and goals may inform screening programmes and selective termination for fetal abnormality without the intention being “eugenic”. The paper locates modern genetics within the tradition of humanist medicine by suggesting that parents who choose to terminate a pregnancy because of fetal abnormalities are not making moral judgments about those who are living with these abnormalities already. Rather (...) they are making judgments about their own lives and the lives of their children in relation to this genetic disorder. It concludes by introducing several caveats about the counselling that parents receive after the results of the testing and suggests that counselling inevitably contains a directive element because of the nature of the information covered. (shrink)

Effectiveness is a key criterion in assessing the justification of antibiotic resistance interventions. Depending on an intervention’s effectiveness, burdens and costs will be more or less justified, which is especially important for large scale population-level interventions with high running costs and pronounced risks to individuals in terms of wellbeing, integrity and autonomy. In this paper, we assess the case of routine hospital screening for multi-drug-resistant Gram-negative bacteria (MDRGN) from this perspective. Utilizing a comparison to screening programs for Methicillin-Resistant Staphylococcus aureus (...) (MRSA) we argue that current screening programmes for MDRGN in low endemic settings should be reconsidered, as its effectiveness is in doubt, while general downsides to screening programs remain. To accomplish justifiable antibiotic stewardship, MDRGN screening should not be viewed as a separate measure, but rather as part of a comprehensive approach. The program should be redesigned to focus on those at risk of developing symptomatic infections with MDRGN rather than merely detecting those colonised. (shrink)

Newborn screening has evolved to include an increasingly complex spectrum of diseases, raising concerns that screening should be optional and require parental consent. Early detection of disorders like PKU and MCAD is essential to prevent serious disability and death in affected children. These are examples of high benefit-risk ratio disorders because of the irrefutable health benefits of early detection, coupled with the low risks of treatment. The dire consequences of not diagnosing an infant with a treatable disorder because of parental (...) refusal to screen are wholly unacceptable. Thus, we believe that newborn screening for disorders with high benefit-risk ratios should continue to be mandatory. (shrink)

Background Residual dried blood spots (rDBS) from newborn screening programmes represent a valuable resource for medical research, from basic sciences, through clinical to public health. In Hong Kong, there is no legislation for biobanking. Parents’ view on the retention and use of residual newborn blood samples could be cultural-specific and is important to consider for biobanking of rDBS. Objective To study the views and concerns on long-term storage and secondary use of rDBS from newborn screening programmes among Hong Kong Chinese (...) parents. Methods A mixed-method approach was used to study the views and concerns on long-term storage and secondary use of rDBS from newborn screening programmes among Hong Kong Chinese parents of children 0–3 years or expecting parents through focus groups (8 groups; 33 participants) and a survey (n = 1012, 85% mothers) designed with insights obtained from the focus groups. We used framework analysis to summarise the themes as supportive factors, concerns and critical arguments for retention and secondary use of rDBS from focus group discussion. We used multiple logistic regression to assess factors associated with support for retention and secondary use of rDBS in the survey. Results Both in focus groups and survey, majority of parents were not aware of the potential secondary use of rDBS. Overall secondary use of rDBS in medical research was well accepted by a large proportion of Hong Kong parents, even if all potential future research could not be specified in a broad consent. However parents were concerned about potential risks of biobanking rDBS including leaking of data and mis-use of genetic information. Parents wanted to be asked for permission before rDBS are stored and mainly did not accept an “opt-out” approach. The survey showed that parents born in mainland China, compared to Hong Kong born parents, had lower awareness of newborn screening but higher support in biobanking rDBS. Higher education was associated with support in rDBS biobanking only among fathers. Conclusion Long-term storage and secondary use of rDBS from newborn screening for biomedical research and a broad consent for biobanking of rDBS are generally acceptable to Hong Kong parents given their autonomy is respected and their privacy is protected, highlighting the importance of an accountable governance and a transparent access policy for rDBS biobanks. (shrink)

In Del Carmen Guadalupe v. Agosto, the U.S. Court of Appeals for the First Circuit held that a hospital fulfills its statutory duty to screen patiens in is emergency room if it provides for a “screening examination reasonably calculated to identify critical medical conditions” that may be afflicting symptomatic patients and if it “provides that level of screening uniformly to all those who present substantially similar complaints.” The First Circuit affirmed the lower court's decision to grant summary judgment to the (...) hospital in a claim raised under the Emergency Medical Treatment and Active Labor Act.Maria del Carmen Guadalupe brought her husband, Narciso Figueroa, to the Hospital Interamericano De Medicina Avanzada, Inc., on October 3, 1998, with symptoms of urinary retention, edema in the legs, high blood pressure, pain, increased respiratory difficulty, a dry cough, fever, and drowsiness. (shrink)

In Del Carmen Guadalupe v. Agosto, the U.S. Court of Appeals for the First Circuit held that a hospital fulfills its statutory duty to screen patiens in is emergency room if it provides for a “screening examination reasonably calculated to identify critical medical conditions” that may be afflicting symptomatic patients and if it “provides that level of screening uniformly to all those who present substantially similar complaints.” The First Circuit affirmed the lower court's decision to grant summary judgment to the (...) hospital in a claim raised under the Emergency Medical Treatment and Active Labor Act.Maria del Carmen Guadalupe brought her husband, Narciso Figueroa, to the Hospital Interamericano De Medicina Avanzada, Inc., on October 3, 1998, with symptoms of urinary retention, edema in the legs, high blood pressure, pain, increased respiratory difficulty, a dry cough, fever, and drowsiness. (shrink)

With the new and highly accurate noninvasive prenatal test, new options for screening become available. I contend that the current state of the art of NIPT is already in need of a thorough ethical investigation and that there are different points to consider before any chromosomal or subchromosomal condition is added to the screening panel of a publicly funded screening program. Moreover, the application of certain ethical principles makes the inclusion of some conditions unethical in a privately funded scheme, even (...) if such screening would enhance a woman’s reproductive autonomy. On the one hand, a screening program aimed solely at the detection of Down syndrome is subject to the technological imperative and should be reassessed in the light of technologies that allow for the detection of conditions that are at least as severe. On the other hand, some chromosomal conditions should not be included in any screening programs, because this would violate certain ethical principles, such as the right of the future child to genetic privacy. (shrink)

Empirical data can be an extremely powerful and influential tool in bioethical research. However, when researchers or policy makers look for answers to ethical questions by engaging with empirical research, there can be a tendency (conscious or unconscious) to shape, report, and use empirical research in a way that confirms their own preferred ethical conclusions. This skewing effect - what we call ‘normative bias’ - is often so subtle it falls short of clear misconduct and thus can be difficult to (...) call out. However, we argue that this subtle influence of bias has the potential to significantly influence debate and policy around highly sensitive ethical issues and must be guarded against. In this paper we share the lessons we have learned through a journey of self-reflection around the effect that normative bias can have when reporting on and referring to empirical data relating to ethical issues. We use a variety of papers from our area of the ethics of routine prenatal screening to illustrate these subtle but often powerfully distorting effects of bias. Our aim in doing so is not to criticise the work of others, as we recognise our own normative bias, but to improve awareness of this issue, remind the need for reflexivity to guard against our own biases, and introduce a new criterion - the idea of a ‘limitation prominence assessment’ - that can work as a practical way to evaluate the seriousness of the limitations of an empirical study and thus, the risks of the study being misread or misinterpreted through superficial reading. (shrink)

Analysis and comparison of genetic screening programs shows that the extent of development of programs varies widely across Europe. Regional variations are due not only to genetic disease patterns but also reflect the novelty of genetic services. In most countries, the focus for genetic screening programs has been pregnant women and newborn children. Newborn children are screened only for disorders which are treatable. Prenatal screening when provided is for conditions for which termination may be offered. The only population screening programs (...) for adults are those for thalassaemia carrier status in Cyprus, Greece and Italy. Social responses to genetic screening range from acceptance to hostility. There is a fundamental tension between individual and communi ty in the debates in various European countries about implementation of screening programs. Opposition to genetic screening is frequently expressed in terms of arguments about "eugenics" with insufficient regard to the meaning of the term and its implications. Only a few countries have introduced explicit legislation on genetic screening. Legislation to address discrimination may provide more safeguards than legislation protecting genetic information itself. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:Genetic Testing and Genetic ScreeningPat Milmoe McCarrick (bio)In recent years there has been an enormous expansion in the knowledge that may be gleaned from the testing of an individual's genetic material to predict present or future disability or disease either for oneself or one's offspring. The Human Genome Project, which is currently mapping the entire human gene system, is identifying progressively more genetic sequencing information (see Scope Note 17, (...) The Human Genome Project). Information obtained from genetic testing raises ethical and legal questions about its uses by society. The ethical dilemmas were foreseen two decades ago by bioethicists who asked whether questionable applications could stop "legitimate pursuits" (IV, Gaylin 1972) and whether genetic disease might come to be viewed as "transmissible" in the sense of being contagious (IV, Veatch 1974).Not only has knowledge expanded, but the practice of genetic testing and screening has greatly increased as well. For example, in the case of testing for cystic fibrosis (CF), the U.S. Congress' Office of Technology Assessment (OTA) estimates that instances of screening jumped from 9310 tests in 1991 to 63,000 tests in 1992 (I, OTA [Cystic Fibrosis] 1992). In addition, the OTA estimates that within the next few years, the six million women who become pregnant each year routinely will be informed of available CF carrier tests (I, OTA [Cystic Fibrosis] 1992).Following the recent identification of a gene linked to breast cancer, Dr. Francis Sellers Collins, director of the National Center for Human Genome Research, said that "it is not inconceivable that every woman in America may want to be screened for this gene. The economic, ethical, and counseling issues will be very daunting." Dr. Collins opines that in the near future physical examinations for 18-year-olds will include DNA testing for diseases with genetic components and that physicians, in the interests of preventive medicine, will make risk-based recommendations for a healthy life-style (IV, Breo 1993). The U.S. President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research predicted as early as 1983 that before the end of the century genetic screening and counseling would become major components of both public health and individual medical care (I, U.S. President's Commission 1983). [End Page 333]The OTA defines genetic testing as "the use of specific assays to determine the genetic status of individuals already suspected to be at high risk for a particular inherited condition. The terms genetic test, genetic assay, and genetic analysis are used interchangeably to mean the actual laboratory examination of samples." In contrast, genetic screening usually uses the same assays employed for genetic testing but is distinguished from genetic testing by its target population (I, OTA [Genetic Monitoring] 1990). The National Academy of Sciences (NAS) defines screening as the systematic search of populations for persons with latent, early, or asymptomatic disease (III, NAS 1975). Some of the literature annotated for this Scope Note appears to use the terms "testing" and "screening" interchangeably.Philip Boyle of the Hastings Center points out that the language used to describe genetic variation is important and asks what words should be used: "Defects, flaws, deleterious genes, disorders, or the more neutral conditions? Using words such as normal—and its corollary, abnormal—is likely to foster stigmatization and discrimination" (III, Genetic Grammar, Boyle 1992).Areas of focus in genetic testing include: prenatal diagnosis, newborn screening, carrier screening, forensic screening, and susceptibility screening.Prenatal diagnosis discerns whether a fetus is at risk for various identifiable genetic diseases or traits. Prenatal diagnosis is made using amniotic fluid, fetal cells, and fetal or maternal blood cells obtained during amniocentesis testing; alpha fetoprotein assays or chorionic villus sampling; or ultrasound tomography, which creates fetal images on a screen. Another method, known as fetoscopy, uses a camera on a needle inserted in the uterus to view the fetus. Since prenatal screening began in 1966 (I, U.S. President's Commission 1983), the number of metabolic defects and genetic disorders that can be diagnosed prenatally has expanded greatly. There is also discussion of requiring testing for parents who are participating in an in vitro fertilization program and are at genetic... (shrink)