The rapidly changing field of genetics affects society through advances in health-care and through implications of genetic research. This study addresses the impacts of new genetic discoveries and technologies on different segments of today's society. The book begins with a chapter on genetic complexity, and subsequent chapters discuss moral and ethical questions arising from today's genetics from the perspectives of health care professionals, the media, the general public, special interest groups and commercial interests.

Dheensa S, Fenwick A, Lucassen A.‘Is this knowledge mine ….

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)

Bowman-Smart et al. (2023) argue for a framework to examine the ethical issues associated with genetic screening for non-medical traits in the context of noninvasive prenatal testing (NIPT). Such s...

BackgroundClinical ethical practice (CEP) is required for healthcare workers (HCWs) to improve health-care delivery. However, there are gaps between accepted ethical standards and CEP in Ethiopia. There have been limited studies conducted on CEP in the country. Therefore, this study aimed to determine the magnitude and associated factors of CEP among healthcare workers in healthcare facilities in Ethiopia.MethodFrom February to April 2021, a mixed-method study was conducted in 24 health facilities, combining quantitative and qualitative methods. Quantitative (survey questionnaire) and qualitative (...) (semi-structured interviews) data were collected. For quantitative and qualitative data analysis, Stata version 14 and Atlas.ti version 7 were utilized. Multiple logistic regression and thematic analysis for quantative and qualitative respectively used.ResultsFrom a total of 432 study participants, 407 HCWs were involved in the quantitative analysis, 36 participants were involved in five focus group discussions (FGDs), and eleven key informant interviews (KIIs) were involved in the qualitative analysis. The score of good CEP was 32.68%. Similarly, the scores of good knowledge and attitude were 33.50% and 25.31%, respectively. In the multiple logistic regression models, satisfaction with the current profession, availability of functional CECs, compassionate leaders, previously thought clinical ethics in pre-service education and good attitude were significant factors associated with CEP. Among these significant factors, knowledge, compassionate leaders, poor infrastructure, a conducive environment and positive attitudes were also determinants of CEP according to qualitative findings.ConclusionsThe CEP in health care services in Ethiopia is low. Satisfaction with the current profession, functional CECs, positive attitude, compassionate leaders and previously thought clinical ethics were significant factors associated with CEP. The Ministry of Health (MoH) should integrate interventions by considering CECs, compassionate leadership, and positive attitudes and enhance the knowledge of health professionals. Additionally, digitalization, intersectoral collaboration and institutionalization are important for promoting CEP. (shrink)

The Direction of Medical Ethics The direction bioethics, and specifically medical ethics, will take in the next few years will be crucial. It is an emerging specialty that has attempted a great deal, that has many differing agendas, and that has its own identity crisis. Is it a subspecialty of clinical medicine? Is it a medical reform movement? Is it a consumer pro tection movement? Is it a branch of professional ethics? Is it a ra tionale for (...) legal decisions and agency regulations? Is it something physicians and ethical theorists do constructively together? Or is it a morally concentrated attack on high technology, with the prac titioners of scientific medicine and the medical ethicists in an adversarial role? Is it a conservative endeavor, exhibiting a Frankenstein syn drome in Medical Genetics ("this time, they have gone too far"), or a Clockwork Orange syndrome in Psychotherapy ("we have met hods to make you talk-walk-cry-kill")? Or does it suffer the afflic tion of overdependency on the informal fallacy of the Slippery Slope ("one step down this hill and we will never be able to stop") that remains an informal fallacy no matter how frequently it's used? Is it a restricted endeavor of analytic philosophy: what is the meaning of "disease," how is "justice" used in the allocation of medical resources, what constitutes "informed" or "consent?" Is it applied ethics, leading in clinical practice to some recommenda tion for therapeutic or preventive action? This incomplete list of questions indicates just how complex. (shrink)

“That a being should be born resembling in certain characters an ancestor removed by two or three, and in some cases by hundreds or even thousands of generations, is assuredly a wonderful fact. . . . If . . . we suppose . . . that many characters lie dormant in both parents during a long succession of generations, the foregoing facts are intelligible.” In October 2006, a group of fishermen working off the west coast of Japan, in the whaling (...) town of Taiji, found a bottlenose dolphin with an extra pair of flippers protruding at the back in the proximity of the tail. They might have guessed that it would become an immediate headline snatcher (Tabuchi 2006). What was less obvious at that moment was that their .. (shrink)

In the early 2000s, Esteban Burchard and his colleagues defended a controversial route to the view that there’s a racial classification of people that’s useful in medicine. The route, which I call ‘Burchard’s route,’ is arguing that there’s a racial classification of people that’s useful in medicine because, roughly, there’s a racial classification with medically relevant genetic differentiation :1170–1175, 2003). While almost all scholars engaged in this debate agree that there’s a racial classification of people that’s useful in medicine in (...) some way, there’s tremendous controversy over whether any racial scheme is useful in medicine because there are medically relevant genetic differences among those races : 564–565, 2016). The goal of this paper will be to show that Burchard’s route is basically correct. However, I will use a slightly different argument than Burchard et al.’s in order to provide a firmer foundation for the thesis, both metaphysically and genetically. I begin by reviewing Burchard’s route and its critics. Second, I present an original argument for establishing Burchard et al.’s conclusion using a Burchard-like route. I call it ‘Spencer’s route’. I reply to major objections along the way, and I end with a summary. (shrink)

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

Current medical genetics research is dominated by a single theory that supports the Human Genome Project rationale. This thesis investigates this and several alternative hypotheses and the ethical context related to their development. Firstly, the hypotheses are discussed in detail followed by a subsection in which research evidence based on each hypothesis is cited. Secondly, these medical genetics hypotheses are situated within the contemporary medical paradigm. To conclude, the thesis examines in depth the ethical and (...) practical implications of medical genetics research. A framework of analysis of scientific responsibility is used to explore these implications. Scientific responsibility, as presented in this thesis, is a process consisting of three steps: scientific discourse; the development of the nature of scientific responsibility; and, effective criticism. Once scientific responsibility is defined, the term is applied specifically to the field of medical genetics research. (shrink)

Discussion of a “duty to recontact” emerged as technological advances left professionals considering getting back in touch with patients they had seen in the past. While there has been much discussion of the duty to recontact as a matter of theory and ethics, there has been rather little empirically based analysis of what this “duty” consists of. Drawing on interviews with 34 professionals working in, or closely with, genetics services, this paper explores what the “duty to recontact” means for (...) healthcare professionals involved in genetics. Using a discourse analytic framework, the paper identifies three system generated discourses on recontact (governance, legal and responsibilizing discourses) and three lifeworld discourses (situating recontact as a formal duty; more loosely as an obligation; and as a personal sense of responsibility). In summary, the paper shows that the “duty” to recontact involves a complex interplay of system responsibilities with professional duties, responsibilities and obligations. (shrink)

Summary This essay offers an overview of the three distinct periods in the development of Russian eugenics: Imperial (1900–1917), Bolshevik (1917–1929), and Stalinist (1930–1939). Began during the Imperial era as a particular discourse on the issues of human heredity, diversity, and evolution, in the early years of the Bolshevik rule eugenics was quickly institutionalized as a scientific discipline—complete with societies, research establishments, and periodicals—that aspired an extensive grassroots following, generated lively public debates, and exerted considerable influence on a range of (...) medical, public health, and social policies. In the late 1920s, in the wake of Joseph Stalin's ‘Great Break’, eugenics came under intense critique as a ‘bourgeois’ science and its proponents quickly reconstituted their enterprise as ‘medical genetics’. Yet, after a brief period of rapid growth during the early 1930s, medical genetics was dismantled as a ‘fascist science’ towards the end of the decade. Based on published and original research, this essay examines the factors that account for such an unusual—as compared to the development of eugenics in other locales during the same period—historical trajectory of Russian eugenics. (shrink)

Medical Genetics is a relatively new field of scientific work that involves a lot of enthusiastic professionals, both in routine (clinical) and research (scientific projects). In either field, different geneticists feel different responsibilities for their work, either because they are different people (personal responsibility) or because they have a different rank in the respective departments (professional responsibility). This paper presents the philosophical views of several authors on the sense of responsibility from the Classical times until the present and (...) reveals the practical, daily responsibilities that are met by these professionals, in four areas of responsibility: personal, professional, scientific and sociatal framework. (shrink)

This paper explores usage of the concept ofabnormality in medical genetics and proposesdirectives for more careful usage of this concept.The conceptual difficulties are first explored, thena model is developed to assess actual usage, followedby analysis of a sample of genetic textbooks andgenetics literature. It appears that fact andvaluation are often intermingled, that referencestandards used to define 'genetic abnormalities' areoften not clear and that the concept of abnormality isoften used independent of the degree of certainty withwhich the altered genetype (...) develops into a (seriously)harmful phenotype. On the basis of these findings itis argued that more restraint and more careful use ofthe concept of genetic abnormality of medical geneticsis appropriate as well as more agreement on the use ofreference standards. (shrink)

ArgumentThis paper examines the intertwined relations between eugenics and medical genetics from a Swedish perspective in the 1940s and 1950s. The Swedish case shows that a rudimentary form of genetic counseling emerged within eugenic practices in the applications of the Swedish Sterilization Act of 1941, here analyzed from the phenomenon of “heredophobia” (ärftlighetsskräck). At the same time genetic counseling also existed outside eugenic practices, within the discipline of medical genetics. The paper argues that a demand for (...) genetic counseling increased in the 1940s and 1950s in response to a sense of reproductive responsibility engendered by earlier eugenic discourse. The paper also questions the claim made by theoreticians of biopolitics that biological citizens have emerged only during the last decades, especially in neoliberal societies. From the Swedish case it is possible to argue that this had already happened earlier in relation to the proliferation of various aspects of eugenics to the public. (shrink)

From the 1950s to the 1970s, a group of physician–researchers forming the ‘Liverpool school’ made groundbreaking contributions in such diverse areas as the genetics of Lepidoptera and human medical genetics. The success of this group can be attributed to the several different, but interconnected, research partnerships that Liverpool physician Cyril Clarke established with Philip Sheppard, Victor McKusick at Johns Hopkins University, the Nuffield Foundation, and his wife Féo. Despite its notable successes, among them the discovery of the (...) method to prevent Rhesus haemolytic disease of the newborn, the Liverpool School began to lose prominence in the mid-1970s, just as the field of medical genetics that it had helped pioneer began to grow. This paper explores the role of partnerships in making possible the Liverpool school's scientific and medical achievements, and also in contributing to its decline. (shrink)

Although the ability to perform gene therapy in human germ-line cells is still hypothetical, the rate of progress in molecular and cell biology suggests that it will only be a matter of time before reliable clinical techniques will be within reach. Three sets of arguments are commonly advanced against developing those techniques, respectively pointing to the clinical risks, social dangers and better alternatives. In this paper we analyze those arguments from the perspective of the client-centered ethos that traditionally governs practice (...) in medical genetics. This perspective clarifies the merits of these arguments for geneticists, and suggests useful new directions for the professional discussion of germ-line gene therapy. It suggests, for example, that the much discussed prospect of germ-line therapy in human pre-embryos may always be more problematic for medical genetics than adult germ-line interventions, even though the latter faces greater technical difficulties. (shrink)

We received 23 spirited commentaries on our target article from across the disciplines of philosophy, economics, evolutionary genetics, molecular biology, criminology, epidemiology, and law. We organize our reply around three overarching questions: (1) What is a cause? (2) How are randomized controlled trials (RCTs) and within-family genome-wide association studies (GWASs) alike and unalike? (3) Is behavior genetics a qualitatively different enterprise? Throughout our discussion of these questions, we advocate for the idea that behavior genetics shares many of (...) the same pitfalls and promises as environmentally oriented research, medical genetics, and other arenas of the social and behavioral sciences. (shrink)

Much of what has been written about the history of medical genetics in North America has focused on physician involvement in eugenics and the transition from heredity counseling to genetic counseling in the United States. What are typically missing in these accounts are details concerning the formation of a new medical specialty, i.e., medical genetics, and Canada’s involvement in specialty formation. Accordingly, this paper begins to fill in gaps by investigating, on the one hand, the (...) history of American and Canadian geneticists working together to support the creation of examining and teaching positions in human genetics in North American medical schools and, on the other, working independently of one another to monitor the rate and direction of workloads and patient access to local genetic counseling and laboratory services and, subsequently, achieve recognition for medical genetics as a medical specialty at the national level. (shrink)

Lee McIntyre’s Respecting Truth chronicles the contemporary challenges regarding the relationship amongst evidence, belief formation and ideology. The discussion in his book focusses on the ‘politicisation of knowledge’ and the purportedly growing public (and sometimes academic) tendency to choose to believe what is determined by prior ideological commitments rather than what is determined by evidence-based reasoning. In considering these issues, McIntyre posits that the claim “race is a myth” is founded on a political ideology rather than on support from scientific (...) evidence. He contrasts this view with the argument that racially correlated biomedical outcomes for self-identified racial groups suggest that biological races are real. I explore how McIntyre’s framing of the claim “race is a myth” as fundamentally ideological results in him failing to engage with the arguments and evidence many constructionists and biological anti-realists put forward in support of their views. I also show how the biomedical evidence he thinks supports biological realism is unconvincing. (shrink)

The aim of this paper is to understand how evolving ideas about heredity and genetics influenced new medical interests and practices and, eventually, the formation of ‘medical genetics’ as a medical specialism in Britain. I begin the paper by highlighting the social and institutional changes through which these ideas passed. I argue that, with time, there was a decisive convergence in thought that combined ideas about the familial aspects of heredity and the health needs of (...) populations with an omnibus ‘genetic’ approach to health and illness that focused on the structures and activities of chromosomes and genes in individuals. I show how this convergence in thought was spurred on, first, by innovations in genetic science and technology in the years after 1960, and, second, by negotiated protocols and standards of medical practice worked out by bodies such as the relevant royal colleges, the linked associations and societies for medical professionals, affected training and research authorities, and the state. The notion of ‘medical genetics’ in Britain consequently gained a semblance of unanimity over its basic reference points and arrived at a meaning directly tributary to current acceptance of the term in the context of a medical specialism. (shrink)

The question of what, if anything, Christian theology as theology might contribute to ethical debates about appropriate uses of medical genetics has often been ignored. The answer is complex, and the author argues it is best characterized by an explanation of the analogous aspirations of the two: both have as their goal the perfection of the human being, both assert that the present disposition of the human body is on a fundamental level more often than not other than (...) it ought to be, and both aspire to transform the present state of the body toward a future state in which present imperfections no longer exist. Given these analogous concerns, it would seem that one of the primary moral contributions that Christianity can make to debates about medical genetics is to ask whether and to what extent the Christian vision of embodied human perfection is compatible with the vision of perfection offered by the sciences pertaining to medical genetics. The author pursues a discussion of this analogy and its implications in this essay. (shrink)

This paper focuses on the structural development of institution-based interest in genetics in Anglo-North American medicine after 1930 concomitantly with an analysis of the changes through which ideas about heredity and the hereditary transmission of diseases in families have passed. It maintains that the unfolding relationship between medicine and genetics can best be understood against the background of the shift in emphasis in conceptualisations of recurring patterns of disease in families from ‘biological relatedness’ to ‘related to chromosomes and (...) genes’. The paper begins with brief considerations of the historical confluences of, first, heredity and medicine and, second, genetics and medicine which, in a third section, leads to a discussion about a uniquely ‘genetics-based approach’ to medicine in the second half of the twentieth century. (shrink)

Genetic discrimination is becoming an increasingly important problem in the United States. Information acquired from genetic tests has been used by insurance companies to reject applications for insurance policies and to refuse payment for the treatment of illnesses. Numerous states and the United States Congress have passed or are considering passage of laws that would forbid such use of genetic information by health insurance companies. Here we argue that much of this legislation is severely flawed because of the difficulty in (...) distinguishing genetic from nongenetic tests. In addition, barring the use by insurance companies of a genetic test but not a nongenetic test (conceivably for the same multifactorial disease) raises issues of fairness in health insurance. These arguments suggest that ultimately the problems arising from genetic discrimination cannot be solved by narrowly focused legislation but only by a modification of the entire health care system. (shrink)

Genetic discrimination is becoming an increasingly important problem in the United States. Information acquired from genetic tests has been used by insurance companies to reject applications for insurance policies and to refuse payment for the treatment of illnesses. Numerous states and the United States Congress have passed or are considering passage of laws that would forbid such use of genetic information by health insurance companies. Here we argue that much of this legislation is severely flawed because of the difficulty in (...) distinguishing genetic from nongenetic tests. In addition, barring the use by insurance companies of a genetic test but not a nongenetic test (conceivably for the same multifactorial disease) raises issues of fairness in health insurance. These arguments suggest that ultimately the problems arising from genetic discrimination cannot be solved by narrowly focused legislation but only by a modification of the entire health care system. (shrink)

I. Telling a patient: Midrash Rabba and Gersonides.--II. An ancient view on the risk of congenital disaster.--III. Overpopulation: 1300 years ago.