Signs and States, programme financé par l'ERG (European Research Council), a pour but d'explorer la sémiologie de l'Etat du XIIIe siècle au milieu du XVIIe siècle. Textes, performances, images, liturgies, sons et musiques, architectures, structures spatiales, tout ce qui contribue à la communication des sociétés politiques, tout ce qu'exprime l'idéel des individus et leur imaginaire, est ici passé au crible dans trois séries de rencontres dont les actes ont été rassemblés dans une collection, Le pouvoir symbolique en Occident (1300-1640). Ces (...) volumes, adoptant une perspective pluridisciplinaire et comparative dans une visée de long terme, combinent études de cas, analyses conceptuelles et réflexions plus théoriques. Et les réponses à ce questionnaire, issu d'une réflexion sur une histoire culturelle poursuivie sur plus de cinq siècles, remettent en cause une histoire de l'Occident latin où l'on opposerait Eglise et Etat : la mutation culturelle engendrée par la réforme grégorienne qui, tout en assurant d'abord le triomphe de la papauté, a donné à l'Etat moderne les moyens d'assurer sa propre légitimité en créant les conditions d'une révolution du système de communication. Elle engendre un partage du pouvoir symbolique et des processus de légitimation avec l'Etat : la capacité de ce dernier à se légitimer par le consentement de la société politique en dehors de la contingence religieuse est une spécificité de l'Occident latin, clé de l'essor des Etats modernes européens. (shrink)

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)

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.

The role of fixed charges present at the surface of biological membranes is usually described by the Gouy-Chapman-Grahame theory of the electric double-layer where the Grahame equation is applied independently on each side of the membrane and where the capacitive charges are disregarded. In this article, we generalize the Gouy-Chapman-Grahame theory by taking into account both intrinsic charges and capacitive charges, in the density value of the membrane surface charges. In the first part, we show that capacitive charges couple electrostatic (...) potentials present on both sides of the membrane. The intensity of this coupling depends both on the value of the membrane specific capacitance and the transmembrane electric potential difference. In the second part, we suggest some physiological implications of membrane electric double-layers. (shrink)

The Epic of Evolution is a course taught at Northern Arizona University. It engages the task of formulating a new epic myth that is based on the physical, natural, social, and cultural sciences. It aims to serve the need of providing meaning for human living in the vast and complex universe that the sciences now depict for us. It is an interdisciplinary effort in an academic setting that is often divided by specializations; it focuses on values in a climate of (...) relativism; and it concentrates on an enterprise for which there are few textbooks at hand. The course is presented in three segments: the cosmos before humans appeared, the human phenomenon, and scenarios for the future of evolution. (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)

By exploring whether nanotechnologies have the potential to generate green innovations, we consider the paradox between the negative and positive side-effects that could come with the development of nanotechnologies. Starting from the conceptual framework of green product innovation, the potential green innovation activity of more than 14,000 firms of the nanotech sector is investigated. Using a query-search method, their patenting activity is explored. Results first show that there is an increasing trend toward the creation of fundamental green knowledge by firms (...) involved in nanotechnologies; second, they demonstrate that energy efficiency is the main driver of green knowledge creation in the sector and third they reveal the main characteristics of nanotech firms creating green knowledge. Beyond their contribution to the debate between positive and negative outcomes of nanotechnology developments, these results also enrich the conceptual framework of green product innovation—a key route to achieving sustainability at the same time as growth. (shrink)

Progressive supranuclear palsy is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP and 3,247 controls followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for the (...) stage 1 SNPs that yielded P ≤ 10-3. We found significant previously unidentified signals associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response and for a myelin structural component. © 2011 Nature America, Inc. All rights reserved. (shrink)

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)

Recently, a number of ontology-driven healthcare systems have been leveraged by the Internet-of-Things (IoT) technologies that offer opportunities to improve abnormal situation detection when integ...

John Maynard Smith has defended against philosophical criticism the view that developmental biology is the study of the expression of information encoded in the genes by natural selection. However, like other naturalistic concepts of information, this ‘teleosemantic’ information applies to many non-genetic factors in development. Maynard Smith also fails to show that developmental biology is concerned with teleosemantic information. Some other ways to support Maynard Smith’s conclusion are considered. It is argued that on any definition of information the view that (...) development is the expression of genetic information is misleading. Some reasons for the popularity of that view are suggested. (shrink)

In the past century, nearly all of the biological sciences have been directly affected by discoveries and developments in genetics, a fast-evolving subject with important theoretical dimensions. In this rich and accessible book, Paul Griffiths and Karola Stotz show how the concept of the gene has evolved and diversified across the many fields that make up modern biology. By examining the molecular biology of the 'environment', they situate genetics in the developmental biology of whole organisms, and reveal how (...) the molecular biosciences have undermined the nature/nurture distinction. Their discussion gives full weight to the revolutionary impacts of molecular biology, while rejecting 'genocentrism' and 'reductionism', and brings the topic right up to date with the philosophical implications of the most recent developments in genetics. Their book will be invaluable for those studying the philosophy of biology, genetics and other life sciences. (shrink)

With the advent of the Human Genome Project there have been many claims for the genetic origins of complex human behavior including insanity, criminality, and intelligence. But what does it really mean to call something 'genetic'? This is the fundamental question that Sahotra Sarkar's book addresses. The author analyses the nature of reductionism in classical and molecular genetics. He shows that there are two radically different kinds of reductionist explanation: genetic reduction (as found in classical genetics) and physical (...) reduction (found in molecular genetics). This important book clarifies the meaning of the term 'genetic', shows how molecular studies have affected genetics, and provides the philosophical background necessary to understand the debates over the Human Genome Project. It will be of particular interest to professionals and students in the philosophy of science, the history of science, and the social studies of science, medicine, and technology. (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)

The cumulative impact of enhancement technologies may alter the human species in the very long-term future. In this article, I will start showing how radical genetic enhancements may accelerate the conversion into a novel species. I will also clarify the concepts of ‘biological species’, ‘transhuman’ and ‘posthuman’. Then, I will summarize some ethical arguments for creating a transhuman or posthuman species with a substantially higher level of well-being than the human one. In particular, I will present what I shall call (...) the Principle of the Best Interests of Posthumanity, which states that the enhancement of the human and transhuman species must be directed towards the creation of a posthuman existence that is substantially more valuable than its predecessors. I suggest that human extinction may be considered, within that principle, as one of the best interests of posthumanity. Finally, I will develop three objections that make that principle unattractive and that show that pursuing a full-blown programme of posthuman evolution is ethically flawed. (shrink)

This paper explores the legal and ethical concept of human subject research in order to determine whether genetic research with already available biosamples and data falls within this concept. Although the ethical concept seems to have evolved to recognize research based on data as human research, from a supranational legal perspective this form of research is not considered human subject research. Thus human subject research regulations do not apply and therefore do not invoke the requirement of obtaining consent prior to (...) using an individual’s biosample or genetic data in research. Furthermore, it remains ambiguous in both the legal and ethical realm whether the use of biosamples or genetic data without additional links to the individual would invoke the same safeguards as research involving additional or specific identifiers. Seeing that research based on already available biosamples and genetic data is not governed by rules concerning human subject research, the second part of the paper analyses whether any consent requirements apply for the further use of already available bio‐samples or genetic data in research. Whereas further use of biosamples is subject to considerably lax consent requirements under Article 22 of the Oviedo Convention, under the General Data Protection Regulation further use of genetic data might not be subject to a prior consent requirement at all, unless it is stipulated in national laws. When it comes to clinical trials, however, sponsors will have the possibility under Article 28(2) of Regulation 536/2014 to obtain open consent for further use of data in any kind of future research. (shrink)

In his book The Biotech Century Jeremy Rifkin makes arguments about the dangers of market-driven genetic biotechnology in medical and agricultural contexts. Believing that Darwinism is too compromised by a competitive ethic to resist capitalist depredations of the genetic commons, and perhaps hoping to pick up anti-Darwinian allies, he turns for support to unorthodox non-Darwinian views of evolution. The Darwinian tradition, more closely examined, contains resources that might better serve his argument. The robust tradition associated with Theodosius Dobzhansky, Ernst Mayr, (...) and others provides an alternative, scientifically sound basis for challenging the rhetoric of genetic reductionism. (shrink)

Genetic mosaicism has long been linked to aging, and several hypotheses have been proposed to explain the potential connections between mosaicism and susceptibility to cancer. It has been proposed that mosaicism may disrupt tissue homeostasis by affecting intercellular communications and releasing microenvironmental constraints within tissues. The underlying mechanisms driving these tissue‐level influences remain unidentified, however. Here, we present an evolutionary perspective on the interplay between mosaicism and cancer, suggesting that the tissue‐level impacts of genetic mosaicism can be attributed to Indirect (...) Genetic Effects (IGEs). IGEs can increase the level of cellular stochasticity and phenotypic instability among adjacent cells, thereby elevating the risk of cancer development within the tissue. Moreover, as cells experience phenotypic changes in response to challenging microenvironmental conditions, these changes can initiate a cascade of nongenetic alterations, referred to as Indirect non‐Genetic Effects (InGEs), which in turn catalyze IGEs among surrounding cells. We argue that incorporating both InGEs and IGEs into our understanding of the process of oncogenic transformation could trigger a major paradigm shift in cancer research with far‐reaching implications for practical applications. (shrink)

How we ought to diagnose, categorise and respond to spectrum disabilities such as autism and Attention Deficit/Hyperactivity Disorder (ADHD) is a topic of lively debate. The heterogeneity associated with ADHD and autism is described as falling on various continua of behavioural, neural, and genetic difference. These continua are varyingly described either as extending into the general population, or as being continua within a given disorder demarcation. Moreover, the interrelationships of these continua are likewise often vague and subject to diverse interpretations. (...) -/- In this paper, I explore geneticists' and self-advocates’ perspectives concerning autism and ADHD as continua. These diagnoses are overwhelmingly analysed as falling on a continuum or continua of underlying traits, which supports the notion of “the neurodiversity spectrum”, i.e., a broader swath of human neural and behavioural diversity on which some concentrations of different functioning are diagnosed. I offer a taxonomy of conceptions of the genetic, phenotypic, and endophenotypic dimensionality within and beyond these diagnostic categories, and suggest that the spectrum of neurodiversity is characteristically endophenotypic. (shrink)

Genetic engineering technologies are a subclass of the biotechnology family, and are concerned with the use of laboratory-based technologies to intervene with a given organism at the genetic level, i.e., the level of its DNA. This class of technologies could feasibly be used to treat diseases and disabilities, create disease-resistant crops, or even be used to enhance humans to make them more resistant to certain environmental conditions. However, both therapeutic and enhancement applications of genetic engineering raise serious ethical concerns. This (...) paper examines various objections to genetic engineering (as applied to humans) which have been raised in the literature, and presents a new way to frame these issues, and to look for solutions. Specifically, this paper frames genetic engineering technologies within the ‘design turn in applied ethics’ lens and thus situates these technologies as covarying with societal forces. The value sensitive design (VSD) approach to technology design is then appropriated as the conceptual framework in which genetic engineering technologies can be considered so that they can be designed for important human values. By doing so, this paper brings further nuance to the scholarship on genetic engineering technologies by discussing the sociotechnicity of genetic engineering systems rather than framing them as value-neutral tools that either support or constrain values based on how they are used. (shrink)

The phenomenon of the New Genetics raises complex social problems, particularly those of privacy. This book offers ethical and legal perspectives on the questions of a right to know and not to know genetic information from the standpoint of individuals, their relatives, employers, insurers and the state. Graeme Laurie provides a unique definition of privacy, including a concept of property rights in the person, and argues for stronger legal protection of privacy in the shadow of developments in human (...) class='Hi'>genetics. He challenges the role and the limits of established principles in medical law and ethics, including respect for patient autonomy and confidentiality. This book will interest lawyers, philosophers and doctors concerned both with genetic information and issues of privacy; it will also interest genetic counsellors, researchers, and policy makers worldwide for its practical stance on dilemmas in modern genetic medicine. (shrink)

Genetically engineered (GE) insects, such as the GE OX513A Aedes aegypti mosquitoes, have been designed to suppress their wild-type populations so as to reduce the transmission of vector-borne diseases in humans. Apart from the ecological and epidemiological uncertainties associated with this approach, such biotechnological approaches may be used by individual governments or the global community of nations to avoid addressing the underlying structural, systemic causes of those infections... We discuss here key ethical questions raised by the use of GE mosquitoes, (...) with the aim of fostering discussion between the public, researchers, policy makers, healthcare organizations, and regulatory agencies at the local, national, and international levels. We affect that goal by outlining a procedural approach to decision-making about the use of the “biotechnology” that goes beyond “community engagement.” The protocol we advocate for entails informed deliberations and decision-making at the community level. It is designed to ensure that the voices of the marginalized and vulnerable groups that would be disproportionately affected by the decision are heard during the community-wide discussions. Moreover, we make the case that the values embedded in the risk assessment should be identified so that the community can make an informed decision about the use of GE insects. In addition, we advocate for the involvement of a variety of actors whose responsibility would be to ensure that the community has the opportunity to make an informed decision based on deliberations about the use of the “biotechnology.”. (shrink)

Genetic changes arising in human pluripotent stem cells (hPSC) upon culture may bestow unwanted or detrimental phenotypes to cells, thus potentially impacting on the applications of hPSCs for clinical use and basic research. In the 20 years since the first report of culture‐acquired genetic aberrations in hPSCs, a characteristic spectrum of recurrent aberrations has emerged. The preponderance of such aberrations implies that they provide a selective growth advantage to hPSCs upon expansion. However, understanding the consequences of culture‐acquired variants for specific (...) applications in cell therapy or research has been more elusive. The rapid progress of hPSC‐based therapies to clinics is galvanizing the field to address this uncertainty and provide definitive ways both for risk assessment of variants and reducing their prevalence in culture. Here, we aim to provide a timely update on almost 20 years of research on this fascinating, but a still unresolved and concerning, phenomenon. (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 examine what I take to be the best case for reproductive human cloning, as a medical procedure designed to overcome infertility, and argue that it founders on an irresolvable tension in the attitude towards the importance of being ‘genetically related’ to our children implied in the desire to clone. Except in the case where couples are cloning a child they have previously conceived naturally, cloning is unable to establish the right sort of genetic relation to make (...) couples the parents of their cloned child. If anybody is the genetic parent of a cloned child it is the natural parent(s) of the DNA donor. Paradoxically, in order to resist the claims of the parents of the donor to the cloned child, the argument for human reproductive cloning must place more weight on the intention to parent a child, than we do in cases of ordinary reproduction. It must insist that the parental relation is established by the intentions of the couple who bring a clone into the world and not by their genetic relation to the child. The emphasis placed on intention as establishing the parental relationship works to undermine the justification for cloning in the first place. For cloning to play a useful role as a reproductive technology, it must allow couples to become parents who could do so no other way. However, to the extent that intention is sufficient to establish parenthood, adoption or surrogacy, which are existing alternatives to cloning, will serve equally well to allow couples to become parents. (shrink)

The article proposes to further develop the ideas of the Extended Evolutionary Synthesis by including into evolutionary research an analysis of phenomena that occur above the organismal level. We demonstrate that the current Extended Synthesis is focused more on individual traits (genetically or non-genetically inherited) and less on community system traits (synergetic/organizational traits) that characterize transgenerational biological, ecological, social, and cultural systems. In this regard, we will consider various communities that are made up of interacting populations, and for which the (...) individual members can belong to the same or to different species. Examples of communities include biofilms, ant colonies, symbiotic associations resulting in holobiont formation, and human societies. The proposed model of evolution at the level of communities revises classic theorizing on the major transitions in evolution by analyzing the interplay between community/social traits and individual traits, and how this brings forth ideas of top-down regulations of bottom-up evolutionary processes (collaboration of downward and upward causation). The work demonstrates that such interplay also includes reticulate interactions and reticulate causation. In this regard, we exemplify how community systems provide various non-genetic ‘scaffoldings’, ‘constraints’, and ‘affordances’ for individual and sociocultural evolutionary development. Such research complements prevailing models that focus on the vertical transmission of heritable information, from parent to offspring, with research that instead focusses on horizontal, oblique and even reverse information transmission, going from offspring to parent. We call this reversed information transfer the ‘offspring effect’ to contrast it from the ‘parental effect’. We argue that the proposed approach to inheritance is effective for modelling cumulative and distributed developmental process and for explaining the biological origins and evolution of language. (shrink)

The issue of genetic discrimination has attracted growing attention and has been the focus of a recent major Australian inquiry. It is, however, a complex and loaded notion, open to interpretation. This paper explores the concept of genetic discrimination in both its theoretical and practical dimensions. It examines its conceptual underpinnings, how it is understood, and how this understanding fits within the legal framework of disability discrimination. The paper also examines the phenomenon in practice, including the ‘fear factor’ and the (...) resulting implications for the development of regulatory policy. The paper argues that we need to be discerning in our interpretation of this term, and differentiate between discriminatory conduct which is legal and illegal. Further, it is argued that a concerted societal response to the ‘problem’ of genetic discrimination is needed involving targeted legal reforms as well as broader non-legal strategies. (shrink)

Genetic testing technologies are rapidly moving from the research laboratory to the market place. Very little scholarship considers the implications of private genetic testing for a public health care system such as Canada’s. It is critical to consider how and if these tests should be marketed to, and purchased by, the public. It is also imperative to evaluate the extent to which genetic tests are or should be included in Canada’s public health care system, and the impact of allowing a (...) two-tiered system for genetic testing. A series of threshold tests are presented as ways of clarifying whether a genetic test is morally appropriate, effective and safe, efficient and appropriate for public funding and whether private purchase poses special problems and requires further regulation. These thresholds also identify the research questions around which professional, public and policy debate must be sustained: What is a morally acceptable goal for genetic services? What are the appropriate benefits? What are the risks? When is it acceptable that services are not funded under health care? And how can the harms of private access be managed? (shrink)

Synaesthesia is a neurodevelopmental condition characterised by anomalous sensory perceptions and associated alterations in cognitive function. This chapter summarises what is known about the familial transmission of synaesthesia and its genetic underpinnings. Early familiality studies showed evidence for a strong genetic predisposition, a highly skewed female: male ratio, and an absence of male-to-male transmission. These patterns supported an early hypothesis of a single-gene X-linked dominant mode of inheritance with male lethality. Subsequent analyses in larger samples indicated that the mode of (...) inheritance was likely to be more complex, with both the strong female skew and absence of male-to-male transmission brought into question. We review in detail the first whole genome linkage scan for auditory-visual synaesthesia and a subsequent family linkage study on coloured sequence synaesthesia. Together these results suggest linkage to five chromosomes but give no support for linkage to the X-chromosome. We discuss candidate genes within these regions and potential implications for the aetiology of synaesthesia. We also discuss the implications of these pioneering genome scans for our understanding of synaesthesia and of how different synaesthetic phenotypes may arise from different genetic predispositions interacting with other genes and with the environment. (shrink)

Implications of variance in the time at which sibs become mature are considered, particularly with respect to the fragmentation of a parental genome over time. It is concluded that regardless of the adaptive derivation of various intra-sibship maturation schedules, they each have important genetic consequences.

In this paper I argue that the extent to which a human trait is genetically caused can causally depend upon whether the trait is categorized within human genetics as genetically caused. This makes the kindgenetically caused traitan interactive kind. I demonstrate that this thesis is both conceptually coherent and empirically plausible. I outline the core rationale of this thesis and demonstrate its conceptual coherence by drawing upon Waters’ (2007) analysis of genetic causation. I add empirical plausibility to the thesis (...) by describing a hypothetical but empirically plausible mechanism by which the fact that obesity is categorized as genetically caused within human genetics increases the extent to which obesity is in fact genetically caused. (shrink)

Although deeply committed to the model of nondirective counseling, most genetic counselors enter the profession with certain assumptions about health and disability—for example, that it is preferable to be a hearing person than a deaf person. Thus, most genetic counselors are deeply troubled when parents with certain disabilities ask for assistance in having a child who shares their disability. This ethical challenge benefits little from viewing it as a conflict between beneficence and autonomy. The challenge is better recast as a (...) conflict between parental autonomy and the child's future autonomy. (shrink)

Newborn screening for genetic diseases has developed rapidly in Western countries. These biopolitics raise the question of birth as a sociological “knot” insofar as it is the threshold between the child and the fetus. The question therefore addressed in this text, based on a field study of newborn screening for cystic fibrosis in France, is that of the link between the quest for good health and the elimination of poor health. Do they reinforce each other or, on the contrary, are (...) they contradictory? I analyze the positions of both mothers of screened children and clinicians regarding the following three points: prenatal diagnosis to preclude sets of sick siblings, identification of heterozygous individuals, and generalized prenatal screening. This study shows how increasingly attentive patient care and an increasingly demanding approach to prenatal diagnosis reinforce one another. It also analyzes the role of taking action early on and evaluating the lives of sick or disabled people in this process. In conclusion, I engage a more general discussion about what I suggest calling a “quality life.”. (shrink)