The work of scientists and doctors in advancing genetic research and its applications has been accompanied by plenty of discussion in the popular press—from Good Housekeeping and Forbes to Ms. and the Congressional Record—about such ...

In this paper, I argue that Plato conceives self-motion as non-spatial in Laws X. I demonstrate this by focusing on the textual evidence and by refuting interpretations according to which self-motion either is a specific type of spatial motion or is said to require space as a necessary condition for its occurrence. Moreover, I show that this non-spatial understanding differs from the identification of the soul’s motion with locomotion in the Timaeus. Consequently, I provide an explanation for this difference between (...) the Timaeus and Laws X by considering developmentalist and contextualist viewpoints. (shrink)

In the face of documented difficulties in the public understanding of genetics, new metaphors have been suggested. The language of information coding and processing has become deeply entrenched in the public representation of genetics, and some critics have found fault in the blueprint metaphor, a variant of the dominant theme. They have offered the language of the recipe as a preferable metaphor. The metaphors of the blueprint and the recipe are compared in respect to their deterministic implications and other associations. (...) The likelihood of the recipe metaphor framing cognition in more useful ways is called into question. (shrink)

In the last third of the twentieth century, humanists and social scientists argued that attention to genetics would heighten already‐existing genetic determinism, which in turn would intensify negative social outcomes, especially sexism, racism, ableism, and harshness to criminals. They assumed that laypeople are at risk of becoming genetic essentialists. I will call this the “laypeople are genetic essentialists model.” This model has not accurately predicted psychosocial impacts of findings from genetics research. I will be arguing that the (...) failure of the model can be traced to its inability to recognize the complexity of laypeople’s attitudes; its incorrect theory of how beliefs, attitudes, and discourse function; and its blindness to how academics’ own interests can override the available evidence. More specifically, I suggest that the substantial data about laypeople’s deployment of genetics supports what I will call the “laypeople are strategic essentialists model” better than the “laypeople are genetic essentialists model.” The strategic essentialists model holds that people tend to store multiple categories, including multiple causal forces, that they deploy “strategically” to serve context‐dependent goals. It will be difficult for academics to reorient ourselves to model laypeople as sophisticated strategic essentialists rather than as naïve genetic essentialists. Perhaps a little shift, however, will be of value. (shrink)

People respond to metaphors as much with regard to the emotions that they generate as to their referential, comparative contents. Interviews with non-geneticists about preferred metaphors for gene-environment interaction that illustrate this tendency are reported. These interviews also reveal the dynamic tendency of such emotional responses. A second set of interviews shows that lay people may preferentially use a metaphor of "virus" or "disease" for talking about genes, as opposed to the coding metaphors transmitted through the mass media and reportedly (...) preferred by geneticists. An explanation based on the differently situated emotions of these groups is proposed. It is proposed that the prominence of emotions in responding to genetics indicates the importance of incorporating analyses of emotions instead of simple principles into policy formulation about genetics. (shrink)

Building on the emerging literature on the ethics of social enterprises (SEs), this paper advances the underexplored role of frontline workers (FLWs) as embedded agents at the interface between communities and SEs. Specifically, we uncover the subjectivity of FLWs as they navigate moral ambiguities while performing their professional roles, dealing with rules and regulations within the organizational hierarchy and living as members of local communities. Based on an inductive case study of a microfinance organization in Cameroon, we find that FLWs (...) engage in three rationalization strategies: cautious disengaging, safeguarding self-interest, and justifying relevance. Our findings offer a better understanding of the ethics of SEs by unpacking the subjectivity of FLWs. We highlight a bottom-up account of caring SEs, identify a boundary condition to subjectivity, and present a nuanced view of FLWs in embedded organizations. We also discuss the practical implications for SEs to improve their compassion and cater for the mental wellbeing of FLWs. (shrink)

As a clinical geneticist I have been amazed at the speed of discovery over the past 20 years. The specific genetic causes of thousands of rare genetic conditions have been defined due to improvements in genomic sequencing, computing power and international collaborations to phenotype individuals with similar clinical features. This knowledge has resulted in an increased ability to make accurate molecular diagnoses which informs optimal treatment and clinical care, can remove the need for unnecessary investigations and (...) informs reproductive decision-making. However for any given individual, this genetic testing can often take weeks or months before the initial genetic diagnosis is made within a family. Occasionally genetic information is required more quickly to define a clinical action. For years point of care testing has been a mainstay of clinical care, for example, in confirming pregnancy or monitoring blood glucose. I had been keen to explore scenarios where a genetic POCT could be employed in clinical practice. To me, an obvious example appeared to be neonatal testing to avoid gentamicin-induced hearing loss. Here was a situation where we had known about the genetic …. (shrink)

: The accelerated discovery of gene mutations that lead to increased risk of disease has led to the rapid development of predictive genetic tests. These tests improve the accuracy of assigning risk, but at a time when intervention or prevention strategies are largely unproved. In coming years, however, data will become increasingly available to guide treatment of genetic diseases. Eventually genetic testing will be performed for common diseases as well as for rare genetic conditions. (...) This will challenge genetic counseling practice. The ethical principles that now guide this practice take into account the personal nature of test decision making, the need to respect individual self-determination, and the importance of client confidentiality. Certain of these principles may have to be modified as genetic testing becomes more widespread in order to meet the changing needs of clients and society. This paper offers recommendations to ensure that genetic counselors will take a leading role in the future delivery of ethical genetic services. (shrink)

In this essay, I recount and examine my response to a genetic diagnosis of my disabled daughter. My daughter was forty‐nine before the diagnosis came. All her disabilities were traceable to a de novo single gene variant on the PURA gene that was discovered only in 2014. I speak of the jolt and the recalibration that this discovery engendered, concluding that, while it seemed that everything had changed, nothing had changed. But my family did discover a community in which (...) Sesha joins other PURA‐perfect sons and daughters and where we as a family acquire a “horizontal identity” marked by a genetic variant. (shrink)

Gaucher disease is a rare, chronic,ethnic-specific genetic disorder affecting Jewsof Eastern European descent. It is extremelyexpensive to treat and presents difficultdilemmas for officials and patients in Israelwhere many patients live. First, high-cost,high-benefit, but low volume treatment forGaucher creates severe allocation dilemmas forpolicy makers. Allocation policies driven bycost effectiveness, age, opportunity or needmake it difficult to justify funding. Processoriented decision making based on terms of faircooperation or decisions invoking the ``rule ofrescue'''' risk discriminating against minoritieswho may already suffer from (...) inequitabledistribution of heath care resources. Apartfrom cost, Gaucher disease prompts questionsabout abortion. Unlike severe geneticdisorders, Gaucher offers no grounds forabortion and, in many ways, is analogous togender based abortions that are prohibitedregardless of fetal age. Finally, Gaucherraises concerns about the disclosure of geneticinformation. These affect potential carriersasked to participate in population studies andcarriers and patients who must considerdisclosure to others. These concerns weigh theright to privacy against communal interests andbilateral commitments. (shrink)

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.

This paper considers parental duties of beneficence and non-maleficence to use prenatal genetic testing for non-treatable conditions. It is proposed that this can be a duty only if the testing is essential to protect the interests of the child ie only if there is a risk of the child being born to a life worse than non-existence. It is argued here that non-existence can be rationally preferred to a severely impaired life. Uncontrollable pain and a lack of any (...) opportunity to develop a continuous self are considered to be sufficient criteria for such preference. When parents are at risk of having a child whose life would be worse than non-existence, the parents have a duty to use prenatal testing and a duty to terminate an affected pregnancy. Further, such duty does not apply to any conditions where the resulting life can be considered better than non-existence. (shrink)

In Victoria, Australia, some parents are now able to select embryos free from genetic disease which will provide stem cells to treat an existing siblingA n Australian couple from Victoria have been given permission to use in vitro fertilisation technology to screen an embryo in order to “create a `perfect match’ sibling” for their seriously ill child. In vitro fertilisation is regulated in Victoria by the Infertility Treatment Authority which restricts access to people who are medically infertile or who (...) have a family history of genetic disease. The approval given to the Victorian couple is for a new application of IVF consisting of preimplantation genetic diagnosis together with tissue typing.The couple’s three year old daughter Christina has Fanconi’s anaemia, a rare genetic condition, that means she will die before she turns 15 unless she receives blood from the umbilical cord of a “perfect match” sibling. Some people are saying this use of IVF amounts to the creation of a genetically engineered “designer” baby. 1–6Preimplantation genetic diagnosis is an IVF technique …. (shrink)

Research and clinical trial development for rare diseases pose unique bioethical challenges. Much of the literature on rare diseases focuses on patient advocacy and drug development to manage or cu...

Volume 20, Issue 4, May 2020, Page 116-118.

: Genetics professionals have been reluctant to test children for adult-onset conditions because they believe this would create psychosocial harm to children not counterbalanced by significant benefits. An additional concern they express is that such testing would violate the autonomy of these children as adults. Yet weighing the harms and benefits of such testing results in a draw, with no substantial harms proven. Moreover, such testing can enhance, rather than violate the adult autonomy of these children. In deciding whether (...) to proceed with predictive testing of children, parents, mature children, and health care professionals should consider a complex of factors relevant to the particular child. The importance of these factors will vary depending on the condition at issue, the age and stage of development of the child, family dynamics, and the concerns, values, and objectives of the parents and mature child. The final decision whether to test a child for an adult-onset condition should rest with the parents and the mature child. (shrink)

An evaluation of a health condition-specific hope scale adapted from the more general dispositional Hope Scale (Snyder et al., 1991) is provided. Participants (N = 202) with a rare, debilitating, and potentially stigmatising health condition were recruited from readers of the Anal Fissure Self Help Page. Data were gathered anonymously using an online survey linked to the website. Consistent with hope theory, this new measure yielded a pathways factor (perceived capacity to find ways to achieve desired goals) and an (...) agency factor (perceived motivation to pursue goals energetically). Respondents with stronger pathways thoughts reported greater benefits from website information for understanding and generating strategies for managing anal fissures. Stronger agency beliefs were related to more frequent website visits, more rereading of first-hand patient accounts, and shorter duration of fissure symptoms. Results offer preliminary support for validity of this scale and for using web-based methodologies to study conditions, such as anal fissure. (shrink)

An evaluation of a health condition-specific hope scale adapted from the more general dispositional Hope Scale (Snyder et al., 1991) is provided. Participants (N = 202) with a rare, debilitating, and potentially stigmatising health condition were recruited from readers of the Anal Fissure Self Help Page. Data were gathered anonymously using an online survey linked to the website. Consistent with hope theory, this new measure yielded a pathways factor (perceived capacity to find ways to achieve desired goals) and an (...) agency factor (perceived motivation to pursue goals energetically). Respondents with stronger pathways thoughts reported greater benefits from website information for understanding and generating strategies for managing anal fissures. Stronger agency beliefs were related to more frequent website visits, more rereading of first-hand patient accounts, and shorter duration of fissure symptoms. Results offer preliminary support for validity of this scale and for using web-based methodologies to study conditions, such as anal fissure. (shrink)

Objectives: To study the consent process experienced by participants who are enrolled in a molecular genetic research study that aims to find new genetic mutations responsible for an apparently inherited disorder.Design: Semi-structured interviews and analysis/description of main themes.Participants: 78 members of 52 families who had been recruited to a molecular genetic study.Results: People were well informed about the goals, risks and benefits of the genetic research study but could not remember the consent process. They had mostly (...) been recruited to take part by trusted clinicians or their relatives but had little memory of, or concern about signing consent forms. Families appeared to regard the research as a continuation of their, or their relatives’, clinical care.Conclusions: Ethical review should be more flexible in its attitude to consent forms and written information sheets for some sorts of research. For rare genetic disease studies where research has been discussed fully within the clinical setting then the consent obtained at that time could suffice rather than needing extra consent at a later stage. However, clinician-researchers will need to ensure that their duty of care extends for the duration of the research and beyond. (shrink)

Source [1] Andrew E. P. Mitchell, Federica Galli, Sondra Butterworth. (2023). Editorial: Equality, diversity and inclusive research for diverse rare disease communities. Front. Psychol., vol. 14. doi:10.3389/fpsyg.2023.1285774. "It is also important to recognize that certain mental health disorders are classified as rare conditions and have their own cultural concepts of distress, as defined in the DSM-5 (American Psychiatric Association, 2013)" and require “equal attention and support for individuals and their families, both physically and emotionally”. [1].

Predictive genetic testing is now routinely offered to asymptomatic adults at risk for genetic disease. However, testing of minors at risk for adult-onset conditions, where no treatment or preventive intervention exists, has evoked greater controversy and inspired a debate spanning two decades. This review aims to provide a detailed longitudinal analysis and concludes by examining the debate's current status and prospects for the future. Fifty-three relevant theoretical papers published between 1990 and December 2010 were identified, and interpretative (...) content analysis was employed to catalogue discrete arguments within these papers. Novel conclusions were drawn from this review. While the debate's first voices were raised in opposition of testing and their arguments have retained currency over many years, arguments in favour of testing, which appeared sporadically at first, have gained momentum more recently. Most arguments on both sides are testable empirical claims, so far untested, rather than abstract ethical or philosophical positions. The dispute, therein, lies not so much in whether minors should be permitted to access predictive genetic testing but whether these empirical claims on the relative benefits or harms of testing should be assessed. (shrink)

The development of genomic technologies has seemed almost magical. Excitement about it, both in medicine and among the public, stems from the belief that genomic techniques will illuminate the causes of health and disease, will lead to effective interventions for both rare and common genetic conditions, and will inform reproductive decision‐making. Novel diagnostic tools, however, are often deployed before targeted therapies are developed, tested, or available and before their psychosocial implications are explored. Newer technologies such as prenatal (...) whole exome screening are seen as offering “decisional autonomy” to expectant parents, although such technologies identify information about genetic sequencing that may not have clear meaning. The “therapeutic gap” between the ability to conduct genetic sequencing and the ability to fully understand what the test results mean, much less what treatments to offer, leaves families with complex and unclear information they cannot act upon with confidence during pregnancy. In this essay, we will consider the psychosocial and ethical implications of such assumptions—and of the uncertain information produced by these technologies—for individuals and families and for societal aspects such as medical service usage and demographic inequities. (shrink)

Massively parallel sequencing, also known as next‐generation sequencing, has the potential to significantly improve newborn screening programs in the United States and around the world. Compared to genetic tests whose use is well established, sequencing allows for the analysis of large amounts of DNA, providing more comprehensive and rapid results at a lower cost. It is already being used in limited ways by some public health newborn screening laboratories in the United States and other countries—and it is under study (...) for broader and more widespread use, including as a core part of newborn screening programs. Sequencing technology has the potential to significantly improve these essential public health programs. For many of the conditions that newborns are already screened for, sequencing can return more specific and more sensitive results. The technology could also enable newborn screening programs to expand the list of rare pediatric conditions that they look for, thereby identifying more infants who can benefit from immediate care. (shrink)

The past few years have witnessed several media-covered cases involving citizens actively engaging in the pursuit of experimental treatments for their medical conditions—or those of their loved ones—in the absence of established standards of therapy. This phenomenon is particularly observable in patients with rare genetic diseases, as the development of effective therapies for these disorders is hindered by the limited profitability and market value of pharmaceutical research. Sociotechnical trends at the cross-section of medicine and society are facilitating (...) the involvement of patients and creating the digital infrastructure necessary to its sustainment. Such participant-led research has the potential to promote the autonomy of research participants as drivers of discovery and to open novel non-canonical avenues of scientific research. At the same time, however, the extra-institutional, self-appointed, and, often, oversight-free nature of PLR raises ethical concern. This paper explores the complex ethical entanglement of PLR by critically appraising case studies and discussing the conditions for its moral justification. Furthermore, we propose a path forward to ensure the safe and effective implementation of PLR within the current research ecosystem in a manner that maximizes the benefits for both individual participants and society at large, while minimizing the risks. (shrink)

Two major reports in the UK and USA have recently sanctioned as ethically acceptable genome editing of future generations for the treatment of serious rare inherited conditions. This marks an important turning point in the application of recombinant DNA techniques to humans. The central question this paper addresses is how did it became possible for human genetic engineering (HGE) of future generations to move from an illegitimate idea associated with eugenics in the 1980s to a concrete proposal (...) sanctioned by scientists and bioethicists in 2020? The paper uses the concept of a regime of normativity to understand the co-evolution and mutual shaping of technology, imaginaries, norms and governance processes in debates about HGE in the USA and UK. It will be argued that interlinked discursive, institutional, political and technological changes have made proposals for the use of genome editing in the genetic engineering of future generations both “thinkable” and legitimate. (shrink)

Humans display more conditioned fear when the conditioned stimulus in a fear conditioning paradigm is a picture of an individual from another race than when it is a picture of an individual from their own race (Olsson, Ebert, Banaji, & Phelps, 2005). These results have been interpreted in terms of a genetic “preparedness” to learn to fear individuals from different social groups (Ohman, 2005; Olsson et al., 2005). However, the associability of conditioned stimuli is strongly influenced by prior exposure (...) to those or similar stimuli. Using the Kalman filter, a normative statistical model, this article shows that superior fear conditioning to individuals from other groups is precisely what one would expect if participants perform optimal, Bayesian inference that takes their prior exposures to the different groups into account. There is therefore no need to postulate a genetic preparedness to learn to fear individuals from other races or social groups. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:Removing the Mask: Hopeless Isolation to Intersex AdvocacyAlexandra von KlanStrangers undoubtedly perceive me as female, but I identify as an intersex woman. My karyotype is 46,XY, a typically defined marker of male biological sex, and I was born with undeveloped, non–functioning gonads. As an intersex person, I know firsthand the negative consequences of pathologizing intersex people’s lived experience by categorizing otherwise healthy, functioning organs and bodies as abnormal. The (...) following narrative recounts conversations and interactions with medical providers during my diagnosis and subsequent treatment of pure XY gonadal dys-genesis, sometimes referred to as Swyer Syndrome. I hope to elaborate upon emotionally significant actions and inactions of medical care providers to expose consequential effects on my emotional processing, physical health, and self–actualization.In December 1988, I was born with “typical” female genitalia. No one knew I was an intersex woman with 46,XY karyotype. Thus, there was no hesitation in the announcement of the birth of a girl in the delivery room or later, on my birth certificate. My parents raised me as a girl and dressed their firstborn in culturally normative feminine garments and accessories: lace frilly frocks, oversized bows, white stockings, and black patent leather Mary Jane’s. I embraced femininity and expressed this gender identity throughout my childhood and adolescence. I’m the eldest of six children split between two households.In January 2005, a month after my sixteenth birthday, delayed puberty and absent menstruation prompted an appointment to a local women’s health center. Nurses collected blood samples and administered an MRI scan on my pelvic region. A week later, my father received a perplexing phone call. An inexperienced doctor told him “there must be something wrong” with me, because lab results revealed I was “chromosomally male.” My father recalls the information presented like, based on the evidence, “your daughter may not be completely female,” and that is that. His impression was that she knew little about the subject and was a bit clueless. She did not mention Swyer Syndrome, or any diagnosis for that matter.Up to this point, I was unaware that a member of my extended family also had Swyer Syndrome. Born in the 1950s, secrecy engulfed her medical treatment and doctors warned her parents against revealing her true chromosomal sex in order to prevent the hysterical panic and depression they [End Page E14] thought the truth would bring. Years later, she sought her medical records and unearthed the truth. Shortly after my father received that dubious phone call, my relative’s endocrinologist provided a referral to his mentor, “Doctor A,” a clinical reproductive endocrinologist.Under Doctor A’s care, I experienced the first of many pelvic exams. Much to my discomfort, Doctor A inspected my semi–clothed body with a male resident in the room. As a people–pleasing teen, I granted permission for his presence; I didn’t voice my preference for a female alternative. Doctor A’s cold hands pressed around each undeveloped breast, pulled a gown away from my hips to inspect a sparse patch of pubic hair, and conducted an examination of my vaginal canal.Shortly after the examination, Doctor A charted Swyer Syndrome as the official diagnosis. Speaking to my father and me, he described my condition as an extremely rare genetic mutation. He told us that Swyer Syndrome was an intersex condition, a group of congenital disorders impacting a person’s internal or external reproductive systems, including endocrine function and genitalia. He explained I had atypical streak gonads instead of ovaries and that, despite having typical male sex chromosomes, I was still very much a girl. He disclosed that my vaginal canal was moderate in length, perhaps further evidence—or consolation—that my body possessed normative female reproductive attributes after all.Next, Doctor A identified a pressing medical concern—golf–ball–sized benign tumors had developed on each streak gonad; if allowed to remain, they would pose an increasing risk of malignancy. We scheduled an appointment for laparoscopic gonadectomy six months later. I left his office with a 3–month prescription for estrogen and progesterone oral tablets. On the way home, we drove to an electronics store where my father... (shrink)

: There is a general consensus in the medical and medical ethics communities against predictive genetic testing of children for late onset conditions, but minimal consideration is given to predictive testing of asymptomatic children for disorders that present later in childhood when presymptomatic treatment cannot influence the course of the disease. In this paper, I examine the question of whether it is ethical to perform predictive testing and screening of newborns and young children for conditions that present (...) later in childhood. I consider the risks and benefits of (1) predictive testing of children from high-risk families; (2) predictive population screening for conditions that are untreatable; and (3) predictive population screening for conditions in which the efficacy of presymptomatic treatment is equivocal. I conclude in favor of parental discretion for predictive genetic testing, but against state-sponsored predictive screening for conditions that do not fulfill public health screening criteria. (shrink)

As our scientific and technical abilities expand at breathtaking speeds, concern that modern genetics and bioengineering are leading us to a posthuman future is growing. Is Human Nature Obsolete? poses the overarching question of what it is to be human against the background of these current advances in biotechnology. Its perspective is philosophical and interdisciplinary rather than technical; the focus is on questions of fundamental ontological importance rather than the specifics of medical or scientific practice.The authors -- all distinguished scholars (...) in their fields -- take on questions about technology's goals and values that are often ignored or sidelined in the face of rapid scientific advances and the highly specialized nature of technical knowledge. The essays included represent a rich variety of thought, ranging from finely nuanced philosophical and theological arguments to historical studies and cultural commentaries. Several explore the historical background of today's biotechnology: Timothy Casey traces such developments as the emergence of cybernetic humanity from Cartesian dualism, and Diane Paul presents the history of "positive" versus coerced eugenics. Jean Bethke Elshtain discusses cloning as a "messianic project" to perfect the body and exclude natural diversity -- giving as an example the elimination of Down Syndrome as an acceptable human type -- while Harold Baillie calls for an examination of the metaphysical roots of personhood. Robert Proctor finds no evidence in paleontology for any "essence of humanity," and Tom Shannon argues against materialist reductionism. Addressing social concerns, Lisa Sowle Cahill finds the possibility of a political solution to the problems raised by genetic engineering in Catholic teachings on social justice, and Langdon Winner looks critically at the "scientific enthusiasts of a posthuman future." Taken as a whole, the book provides a humanistic overview of a subject too often considered only in its technological aspect. (shrink)

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

The prelims comprise: Introduction Pre‐existing Conditions Case Model of Causation Case study of ‘Genetic Disease” The Future of Medical Insurance Conclusion Notes References Suggestions for Further Reading.

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

New genetic technologies and their applications in biomedicine have important implications for social identities in contemporary societies. In medicine, new genetics is increasingly important for the identification of health and disease, the imputation of personal and familial risk, and the moral status of those identified as having genetic susceptibility for inherited conditions. There are also consequent transformations in national and ethnic collective identity, and the body and its investigation is potentially transformed by the possibilities of genetic (...) investigations and modifications (including the highly controversial terrains of reproductive technologies and the use of human embryos in biomedical research). The papers in this volume, drawn from an international array of authors, address these issues from a variety of national, disciplinary and empirical standpoints. An informative read for postgraduates and professionals in the fields of sociology, social anthropology, science and technology studies, and environmental studies, the chapters comprise empirically based and theoretically informed discussions of key sociological, anthropological, political and ethical issues. Using the resources of a wide range of social science disciplines to provide a comparative approach to complex issues, this superb collection explores the local and global consequences of the new genetics, and analyzes the social implications of these advances for identity formation in a period of rapid social change. (shrink)

In Rosamond Rhodes, Leslie Francis & Anita Silvers (eds.) Blackwell Guide to Medical Ethics. (Ch. 23, pp. 407-424, 2006).

Increasing genetic knowledge over the last decade has enabled hundreds of genetic variants associated with inherited cardiac conditions to be identified, many of which cause increased risk of sudden cardiac death. While individually these conditions are rare, taken together they impose a significant burden. The severity of these conditions—the possibility that they might cause sudden unheralded death of a teenager or young adult—juxtaposed with uncertainty about the pathology linked with many of the genetic (...) variants is significant in terms of professional practice because, increasingly, clinicians have been encouraged to cascade out genetic testing from the proband or consultand to other family members who may be at risk of developing the same condition. This process often involves sharing human tissue samples, DNA or personal information. This paper reviews the legal and regulatory frameworks which may apply when tissue and DNA samples are collected, used and retained, both for the purpose of diagnosis and for benefiting other family members, when a suspected or definitive diagnosis of an inherited cardiovascular condition is made. Sometimes the interests of family members may conflict, and it may be difficult for practitioners to reconcile the interests of one family member with another, particularly if the balance of benefits and harms from testing is unclear. The paper then examines some of the ethical tensions which may arise in practice and concludes that all involved should be conversant with the legal and ethical frameworks that apply. (shrink)

Prenatal genetic testing is becoming available for an increasingly broad set of diseases, and it is only a matter of time before parents can choose to test for hundreds, if not thousands, of genetic conditions in their fetuses. Should access to certain kinds of fetal genetic information be limited, and if so, on what basis? We evaluate a range of considerations including reproductive autonomy, parental rights, disability rights, and the rights and interests of the fetus as (...) a potential future child. We conclude that parents should be able to access information that could be useful during pregnancy, but that testing for non-medical information should be limited. Next, we argue that the government lacks a compelling state interest in regulating prenatal genetic testing and propose that regulation should occur through medical professional organizations. Finally, we present a framework for determining what testing physicians should recommend, offer neutrally, or not offer at all. (shrink)

The aim of this paper is to show that critics of biological explanations of human nature may be granting too much to those who propose such explanations when they argue that the truth of genetic determinism implies an end to critical evaluation and reform of our social institutions. This is the case because when we argue that biological determinism exempts us from social critique we are erroneously presupposing that our social values, practices, and institutions have nothing to do with (...) what makes biological explanations troublesome. My argument is that what constitutes a problem for those who are concerned with social justice is not the fact that particular behaviours may be genetically determined, but the fact that our value system and social institutions create the conditions that make such behaviours problematic. Thus, I will argue that even if genetic determinism were correct, the requirement of assessing and transforming our social practices and institutions would be far from superfluous. Biology is rarely destiny for human beings and the institutions they create. (shrink)

Rare diseases, defined as having a prevalence inferior to 1/2000, are poorly understood scientifically and medically. Appropriate diagnoses and treatments are scarce, adding to the burden of living with chronic medical conditions. The moral significance of rare disease experiences is often overlooked in qualitative studies conducted with adults living with rare diseases. The concept of morally problematic situations arising from pragmatist ethics shows promise in understanding these experiences. The objectives of this study were to (1) acquire (...) an in-depth understanding of morally problematic situations experienced by adults living with rare diseases in the province of Québec and (2) to develop an integrative model of the concept of morally problematic situations. To this end, an online survey targeting this population was developed through a participatory action research project. Respondents provided 90 long testimonies on the most important morally problematic situations they faced, often in healthcare settings. An integrative model was developed based on various qualitative analyses of these testimonies and relevant literature. The integrative model showcases that morally problematic situations have causes (i.e., contextual and relational factors, personal factors, jeopardized valuations), have affective repercussions (i.e., emotions and feelings, internal tensions), prompt action (i.e., through empowerment strategies leading to the evolution of situations), and elicit outcomes (i.e., factual consequences, residual emotions and feelings, positive or negative resolutions). In sum, this study advances understanding of the moral experiences of adults living with rare diseases while proposing a comprehensive conceptual tool to guide future empirical bioethics research on moral experiences. (shrink)

The science of genetics is undergoing a paradigm shift. Recent discoveries, including the activity of retrotransposons, the extent of copy number variations, somatic and chromosomal mosaicism, and the nature of the epigenome as a regulator of DNA expressivity, are challenging a series of dogmas concerning the nature of the genome and the relationship between genotype and phenotype. According to three widely held dogmas, DNA is the unchanging template of heredity, is identical in all the cells and tissues of the body, (...) and is the sole agent of inheritance. Rather than being an unchanging template, DNA appears subject to a good deal of environmentally induced change. Instead of identical DNA in all the cells of the body, somatic mosaicism appears to be the normal human condition. And DNA can no longer be considered the sole agent of inheritance. We now know that the epigenome, which regulates gene expressivity, can be inherited via the germline. These developments are particularly significant for behavior genetics for at least three reasons: First, epigenetic regulation, DNA variability, and somatic mosaicism appear to be particularly prevalent in the human brain and probably are involved in much of human behavior; second, they have important implications for the validity of heritability and gene association studies, the methodologies that largely define the discipline of behavior genetics; and third, they appear to play a critical role in development during the perinatal period and, in particular, in enabling phenotypic plasticity in offspring. I examine one of the central claims to emerge from the use of heritability studies in the behavioral sciences, the principle of minimal shared maternal effects, in light of the growing awareness that the maternal perinatal environment is a critical venue for the exercise of adaptive phenotypic plasticity. This consideration has important implications for both developmental and evolutionary biology. (shrink)

In this paper I present an argument in favour of a parental duty to use preimplantation genetic diagnosis (PGD). I argue that if embryos created in vitro were able to decide for themselves in a rational manner, they would sometimes choose PGD as a method of selection. Couples, therefore, should respect their hypothetical choices on a principle similar to that of patient autonomy. My thesis shows that no matter which moral doctrine couples subscribe to, they ought to conduct the (...) PGD procedure in the situations when it is impossible to implant all of the created embryos and if there is a significant risk for giving birth to a child with a serious condition. (shrink)

Transhumanism is a loosely defined movement that has developed gradually over the past two decades. It promotes an interdisciplinary approach to understanding and evaluating the opportunities for enhancing the human condition and the human organism opened up by the advancement of technology. Attention is given to both present technologies, like genetic engineering and information technology, and anticipated future ones, such as molecular nanotechnology and artificial intelligence.