This study appeared in full in the last issue of Research Ethics Review (2010; 6 (2): 67). Dr Arber, a cancer biologist in Chesterpool oncology services and working at Chesterpool University wishes to study prevalence and nature of somatic mutations in selected genes associated with breast cancer. She proposes to use, without specific consent, tumour and normal tissues from 100 positive breast biopsies already collected in the clinical service and analyse selected genes that are suspected to be altered in breast (...) cancer. A year later she submits an amendment to allow whole genome sequencing of the tumour DNA and for comparison, blood DNA. (shrink)

One of the major impediments to understanding the concept of information is that the term is used to describe a number of disparate things, including a property of organized matter and messages sent from a sender to a receiver. Information is essentially an attribute of the form that matter and energy take, not of matter and energy themselves. Intrinsic information is a theoretical measure of the degree to which an entity is organized, the opposite of entropy. Meaningful information, however, involves (...) the detection of a pattern of organized matter or energy by an animate or a man-made receptor, which triggers a change in the behavior, function, or organizational structure of the receiving entity. The ability to detect and respond to meaningful information is one of the defining characteristics of living entities; the process that enables cells and organisms to receive their genetic heritage, regulate their internal milieu, and respond to changes in their environment. Although energy and information are the two fundamental causal agents in the natural world, they bring about change through completely different mechanisms. The energy involved in physical interactions is supplied by the originating entity, while the energy involved in informational interactions is provided by the recipient. There is no predictable relationship between the nature of the informational stimulus and the response it engenders, for this is primarily determined by the pattern of connections between the involved receptors and effectors that evolution and learning have fashioned. As a result, a living entity’s response to information cannot be predicted on a purely mechanical basis. The laws that describe the physical interaction of organized matter apply to the transfer of energy, not to the transfer of information. This is why biology cannot be reduced to physics. (shrink)

This paper examines several contemporary readings of Piaget's texts: M. Chapman's Constructive Evolution provides a wide-ranging exegesis of Piaget's entire body of work; F. Vidal's Piaget before Piaget focuses on Piaget's earliest writings; and H. Beilin's Piaget's New Theory concentrates on Piaget's very last projects. All three contend that in contrast to accepted versions of Piaget's theory, there is a relatively unknown Piaget and a markedly differently way to understand Genetic Epistemology. This brief review attempts to bracket such readings (...) within the purview of postmodern concerns with rationality. 2012 APA, all rights reserved). (shrink)

We discuss the role of linguistic metaphors as a cognitive frame for the understanding of genetic information processing. The essential similarity between language and genetic information processing has been recognized since the very beginning, and many prominent scholars have noted the possibility of considering genes and genomes as texts or languages. Most of the core terms in molecular biology are based on linguistic metaphors. The processing of genetic information is understood as some operations on text – writing, (...) reading and editing and their specification (encoding/decoding, proofreading, transcription, translation, reading frame). The concept of gene reading can be traced from the archaic idea of the equation of Life and Nature with the Book. Thus, the genetics itself can be metaphorically represented as some operations on text (deciphering, understanding, codebreaking, transcribing, editing, etc.), which are performed by scientists. At the same time linguistic metaphors portrayed gene entities also as having the ability of reading. In the case of such “bio-reading” some essential features similar to the processes of human reading can be revealed: this is an ability to identify the biochemical sequences based on their function in an abstract system and distinguish between type and its contextual tokens of the same type. Metaphors seem to be an effective instrument for representation, as they make possible a two-dimensional description: biochemical by its experimental empirical results and textual according to the cognitive models of comprehension. In addition to their heuristic value, linguistic metaphors are based on the essential characteristics of genetic information derived from its dual nature: biochemical by its substance, textual (or quasitextual) by its formal organization. It can be concluded that linguistic metaphors denoting biochemical objects and processes seem to be a method of description and explanation of these heterogeneous properties. (shrink)

We discuss the role of linguistic metaphors as a cognitive frame for the understanding of genetic information processing. The essential similarity between language and genetic information processing has been recognized since the very beginning, and many prominent scholars have noted the possibility of considering genes and genomes as texts or languages. Most of the core terms in molecular biology are based on linguistic metaphors. The processing of genetic information is understood as some operations on text – writing, (...) reading and editing and their specification (encoding/decoding, proofreading, transcription, translation, reading frame). The concept of gene reading can be traced from the archaic idea of the equation of Life and Nature with the Book. Thus, the genetics itself can be metaphorically represented as some operations on text (deciphering, understanding, codebreaking, transcribing, editing, etc.), which are performed by scientists. At the same time linguistic metaphors portrayed gene entities also as having the ability of reading. In the case of such “bio-reading” some essential features similar to the processes of human reading can be revealed: this is an ability to identify the biochemical sequences based on their function in an abstract system and distinguish between type and its contextual tokens of the same type. Metaphors seem to be an effective instrument for representation, as they make possible a two-dimensional description: biochemical by its experimental empirical results and textual based on the cognitive models of comprehension. In addition to their heuristic value, linguistic metaphors are based on the essential characteristics of genetic information derived from its dual nature: biochemical by its substance, textual (or quasi-textual) by its formal organization. It can be concluded that linguistic metaphors denoting biochemical objects and processes seem to be a method of description and explanation of these heterogeneous properties. (shrink)

The goal of forming a science of intentional behavior requires a more richly detailed account of symbolic systems than is assumed by the authors. Cultural systems are not simply the equivalent in the ideational domain of culture of the purported Baldwin Effect in the genetic domain. © 2014 Cambridge University Press.

Social Values and Research in Human Embryology ROBERT G. EDWARDS and DAVID J. SHARP E 125 Babies by Means of In Vitro Fertilization: Unethical Experiments ...

The status of genes as bearers of semantic content remains very much in dispute among philosophers of biology. In a series of papers, Nicholas Shea has argued that his ‘infotel’ theory of semantics vindicates the claim that genes carry semantic content. On Shea’s account, each organism is associated with a ‘developmental system’ that takes genetic representations as inputs and produces whole-organism traits as outputs. Moreover, at least in his most recent work on the topic, Shea is explicit in claiming (...) that these genetic representations are ‘read in ontogenetic time, in the course of individual development’. Here I argue that a close examination of the process of reading, in Shea’s sense, reveals that acts of reading do not actually occur over the course of developmental time at all. To make this vivid, I contrast the process of reading for Shea with another type of developmental process that is widely seen as a form of reading directed on inherited genes, and which certainly does occur over the course of developmental time, namely, gene expression. I suggest that this error in Shea’s thinking can be traced back to an equivocation on Shea’s part in the meaning of ‘reads’, and also to a reliance on an invalid principle regarding the transference of representational content from one token gene to another. The issues at play are bound up with questions about causation and in particular about causation over time. Thus, having first presented my arguments in a way that doesn’t depend on any particular theory of causation, I then make use of Kenneth Waters’ framework of difference-making causation to conceptually sharpen and shed further light on matters. I conclude by discussing a consequence of the fact that acts of reading do not occur in development. 1 Introduction2 Reading for Shea3 Gene Expression as Reading4 Are Genetic Representations Read in Development? Part 15 The Manipulability Theory of Causation and Difference-Making Causation6 Are Genetic Representations Read in Development? Part 27 Conclusion. (shrink)

We discuss the role of linguistic metaphors as a cognitive frame for the understanding of genetic information processing. The essential similarity between language and genetic information processing has been recognized since the very beginning, and many prominent scholars have noted the possibility of considering genes and genomes as texts or languages. Most of the core terms in molecular biology are based on linguistic metaphors. The processing of genetic information is understood as some operations on text – writing, (...) reading and editing and their specification (encoding/decoding, proofreading, transcription, translation, reading frame). The concept of gene reading can be traced from the archaic idea of the equation of Life and Nature with the Book. Thus, the genetics itself can be metaphorically represented as some operations on text (deciphering, understanding, code-breaking, transcribing, editing, etc.), which are performed by scientists. At the same time linguistic metaphors portrayed gene entities also as having the ability of reading. In the case of such “bio-reading” some essential features similar to the processes of human reading can be revealed: this is an ability to identify the biochemical sequences based on their function in an abstract system and distinguish between type and its contextual tokens of the same type. Metaphors seem to be an effective instrument for representation, as they make possible a two-dimensional description: biochemical by its experimental empirical results and textual based on the cognitive models of comprehension. In addition to their heuristic value, linguistic metaphors are based on the essential characteristics of genetic information derived from its dual nature: biochemical by its substance, textual (or quasi-textual) by its formal organization. It can be concluded that linguistic metaphors denoting biochemical objects and processes seem to be a method of description and explanation of these heterogeneous properties. (shrink)

Understanding the dynamics of information is crucial to many areas of research, both inside and outside of philosophy. Using computer simulations of three kinds of information, germs, genes, and memes, we show that the mechanism of information transfer often swamps network structure in terms of its effects on both the dynamics and the fitness of the information. This insight has both obvious and subtle implications for a number of questions in philosophy, including questions about the nature of information, whether there (...) is genetic information, and how to arrange scientific communities. (shrink)

A case study in the kinds of problems to expect from this increasingly popular marketing tactic.

Beyond belief change and meme adoption, both genetics and infection have been spoken of in terms of information transfer. What we examine here, concentrating on the specific case of transfer between sub-networks, are the differences in network dynamics in these cases: the different network dynamics of germs, genes, and memes. Germs and memes, it turns out, exhibit a very different dynamics across networks. For infection, measured in terms of time to total infection, it is network type rather than degree of (...) linkage between sub-networks that is of primary importance. For belief transfer, measured in terms of time to consensus, it is degree of linkage rather than network type that is crucial. Genes model each of these other dynamics in part, but match neither in full. For genetics, like belief transfer and unlike infection, network type makes little difference. Like infection and unlike belief, on the other hand, the dynamics of genetic information transfer within single and between linked networks are much the same. In ways both surprising and intriguing, transfer of genetic information seems to be robust across network differences crucial for the other two. (shrink)

For decades questionnaires have been used to measure the cognitive and psychological effects of prenatal genetic testing, but little is known about why some women undergo testing and others decline. Research indicates that many factors influence decision making, including values and beliefs. What is often denied rather than recognized is that the professional and personal values and beliefs held by the health care provider influence the patient’s decision. It is assumed that, if genetic services are delivered in a (...) nondirective manner, patients will not be affected by the provider’s personal and professional standpoint. The qualitative research data reported here challenge this assumption. Getting to know patients’ moral understanding and patterns of ethical reasoning by listening to their personal stories is recommended as a better way for nurses to help patients to make informed and autonomous decisions about prenatal genetic screening or diagnostic tests. (shrink)

Here we elucidate a paradox: how a single chemoattractant‐receptor system in two individuals is used for communication despite the seeming inevitability of self‐excitation. In the filamentous fungus Neurospora crassa, genetically identical cells that produce the same chemoattractant fuse via the homing of individual cell protrusions toward each other. This is achieved via a recently described “ping‐pong” pulsatile communication. Using a generic activator‐inhibitor model of excitable behavior, we demonstrate that the pulse exchange can be fully understood in terms of two excitable (...) systems locked into a stable oscillatory pattern of mutual excitation. The most puzzling properties of this communication are the sudden onset of oscillations with final amplitude, and the absence of seemingly inevitable self‐excitation. We show that these properties result directly from both the excitability threshold and refractory period characteristic of excitable systems. Our model suggests possible molecular mechanisms for the ping‐pong communication. (shrink)

Advances in genetics and related biotechnologies are having a profound effect on sport, raising important ethical questions about the limits and possibilities of the human body. Drawing on real case studies and grounded in rigorous scientific evidence, this book offers an ethical critique of current practices and explores the intersection of genetics, ethics and sport. Written by two of the world's leading authorities on the ethics of biotechnology in sport, the book addresses the philosophical implications of the latest scientific developments (...) and technological data. Distinguishing fact from popular myth and science fiction, it covers key topics such as the genetic basis of sport performance and the role of genetic testing in talent identification and development. Its ten chapters discuss current debates surrounding issues such as the shifting relationship between genetics, sports medicine and sports science, gene enhancement, gene transfer technology, doping and disability sport. The first book to be published on this important subject in more than a decade, this is fascinating reading for anyone with an interest in the ethics of sport, bioethics or sport performance. (shrink)

This article reviews and contrasts research findings in a variety of disciplines seeking corroboration for theories of settlement in Madagascar. Evidence is considered from the fields of linguistics, archaeology (studies of pottery), cultural anthropology and genetic analysis, leading to conclusions broadly supporting the thesis of Austronesian migrations directly to Madagascar from Kalimantan and Sulawesi around the 5th and 7th centuries CE, which combined with a Bantu group originating from the region of Mozambique. The article nevertheless warns against attributing too (...) much to individual discipline studies, concluding that only genetic analysis can provide conclusive proof, and this only when informed by prior anthropological and historical indicators. (shrink)

This chapter contains section titled: Historical Overview Population Genetics Models The Tautology Problem The Wright‐Fisher Debate Classical/Balance Hypothesis Debate The Neutralism Controversy Saltationism vs. Gradualism Conclusions Acknowledgments References Further Reading.

Many complex behaviors are genetically hardwired. Based on previous findings on genetic control of mating and other behaviors in invertebrate and mammalian systems, I suggest that genetic control of complex behaviors is modular: first, dedicated genes specify different behavioral patterns; secondly, separable genetic networks govern distinct behavioral components. I speculate that modular genetic encoding of complex behaviors may in part reflect modularity in brain development and function.Editor's suggested further reading in BioEssays From songs to synapses: (...) Molecular mechanisms of birdsong memory Abstract. (shrink)

Through a close reading of the two definitions of evil in the Introduction to Responses to Thalassios, this article points out a circular, cognitive-affective-somatic, genetic mechanism that St. Maximos the Confessor considers responsible for the initiation and transmission of the fallness as a human condition and the specific manifestation of it in the form of passions. It elucidates the first definition as mainly phenomenological, by identifying the circular mechanism and its behavioural expressions, and the second definition as more (...) aetiological, by explaining why this mechanism emerges and reemerges with the fallen humanity despite its catastrophic results. CONTRIBUTION: This article highlights a double genetic mechanism that St. Maximos the Confessor grasped within the fallen human condition as a curse solvable only in Christ, a notion largely carved out by previous Maximian scholarship, but fully explained and valuated here. (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)

Gene discovery reveals new biology, expands the utility of marker‐assisted selection, and enables targeted mutagenesis. Still, such discoveries can take over a decade. We present a general strategy, “Agile Genetics,” that uses nested, structured populations to overcome common limits on gene resolution. Extensive simulation work on realistic genetic architectures shows that, at population sizes of >5000 samples, single gene‐resolution can be achieved using bulk segregant pools. At this scale, read depth and technical replication become major drivers of resolution. Emerging (...) enrichment methods to address coverage are on the horizon; we describe one possibility – iterative depth sequencing (ID‐seq). In addition, graph‐based pangenomics in experimental populations will continue to maximize accuracy and improve interpretation. Based on this merger of agronomic scale with molecular and bioinformatic innovation, we predict a new age of rapid gene discovery. (shrink)

Read together, historian Alexandra Minna Stern's Telling Genes: The Story of Genetic Counseling in America and bioethicist Michael Parker's Ethical Problems and Genetics Practice convey a rich understanding of genetic practices and their implicit moralities. The books are methodologically similar in that both authors examine genetics practices empirically, and the resulting perspectives are complementary, Stern's from outside genetics practices and Parker's from inside.

Reading Wiredu is the first comprehensive overview of the philosophical thought of Kwasi Wiredu. Born in Ghana in 1931, Wiredu, an important observer and critic of philosophy generally, remains an original and penetrating African thinker. Interrelating Wiredu's philosophical writings from across decades, Barry Hallen sets forth the basic tenets and the defining features of his philosophy. Wiredu's thought is divided into five distinct but interconnected areas: his response to the philosophy of Quine on issues of logic and ontology, issues (...) of language in philosophical reflection, the nature of truth as a practical and philosophical concern, the principle of sympathetic impartiality that all human beings must live by to survive as a group, and finally, consensus building as rooted in intentional, negotiated, and rational exchanges that are part of everyday life. Reading Wiredu explores the scope and depth of Wiredu's philosophical thought, which can be framed through what he calls a genetic methodology-a methodology that privileges environmental considerations in the production of various forms of thought. Hallen's overview is intended to assist scholars and students in grasping Wiredu's complex philosophical thought. (shrink)

This book is aimed at analyzing the foundations of medical ethics by considering different moral theories and their implications for judgments in clinical practice and policy-making. It provides a review of the major types of ethical theory that can be applied to medical and bioethical issues concerning reproductive genetics. In response to the debate on the most adequate ethical doctrine to guide biomedical decisions, this book formulates views that capture the best elements in each, bearing in mind their differences and (...) taking into account the specific character of medicine. No historically influential position in ethics is by itself adequate to be applied to reproductive decisions. Thus, this book attempts to offer a pluralistic approach to biomedical research and medical practice. One usually claims that there are some basic principles which constitute the foundations of bioethics and medical ethics. Yet these principles conflict with each other and one needs some criteria to solve these conflicts and to specify the scope of application of these principles. Exploring miscellaneous ethical approaches as introduced to biomedicine, particularly to reproductive genetics, the book shall elucidate their different assumptions concerning human nature and the relations between healthcare providers, recipients, and other affected parties. The book attempts to answer the question of whether the tension between these ethical doctrines generates conflict in the field of biomedicine or if these competing approaches could in some way complement each other. In this respect, lecturers and researchers in bioethics would be interested in this reading this book. (shrink)

This chapter contains sections titled: Information Management: Confidentiality, Autonomy and Non‐Directiveness Predictive Genetic Testing Childhood Genetic Testing Genetic Screening Informed Consent to Screening Newborn Screening Carrier Screening Prenatal Screening Susceptibility Screening Further Information Management Goals of Genetic Screening: Public Health vs Individual Choice Conclusion References Further reading.

A square tabular array was introduced by R. C. Punnett in (1907) to visualize systematically and economically the combination of gametes to make genotypes according to Mendel’s theory. This mode of representation evolved and rapidly became standardized as the canonical way of representing like problems in genetics. Its advantages over other contemporary methods are discussed, as are ways in which it evolved to increase its power and efficiency, and responded to changing theoretical perspectives. It provided a natural visual decomposition of (...) a complex problem into a number of inter-related stages. This explains its computational and conceptual power, for one could simply “read off” answers to a wide variety of questions simply from the “right” visual representation of the problem, and represent multiple problems, and multiple layers of problems in the same diagram. I relate it to prior work on the evolution of Weismann diagrams by Griesemer and Wimsatt (What Philosophy of Biology Is, Martinus-Nijhoff, the Hague, 1989), and discuss a crucial change in how it was interpreted that midwifed its success. (shrink)

We read the four commentaries on our article with much interest.1 Each response provides stimulating discussion, and below we have attempted to respond to specific issues that they have raised. We regret that we are not able to respond point-by-point to each of them. However, before our responses, it may benefit the reader if we briefly summarise the claims in our article. First, we hold two presuppositions: (1) xenotransplantation research will inevitably continue for the foreseeable future, and (2) causing suffering (...) and pain requires sufficient justification and should be mitigated where possible. Second, based on these two presuppositions, we posit an argument for the further genetic modification of pigs for xenotransplantation that would eliminate certain experiences of pain and suffering should it become possible to do so. Gibson,2 in his commentary, is sceptical—for good reason—that ‘xenotransplantation-motivated disenhancement would be a temporary stopgap until the organ and tissue shortage problem is solved via less contentious means’. Gibson’s argument is grounded in the fact that the biotechnology industry—of which xenotransplantation is part of—is beholden to economic and market forces that would likely perpetuate constancy, thereby making it difficult to transition away from using disenhanced genetically engineered pigs for xenotransplantation. This point is well taken, …. (shrink)

This anthology of 42 readings begins with the author's thorough introduction to the history and theories of biomedical ethics. The readings that follow include the physician-patient relationship, reproductive rights, and technologies, genetics, as well as death and dying.

This study confronts Sartre and Derrida’s interpretations of Genet. It argues that it is incorrect to assume that Sartre applies Hegelian logic to Genet, while Derrida frees him from it. Both contend that Genet’s writing is antithetical to absolute idealism, albeit in different ways. To elucidate this variation, I examine, in particular, Derrida’s interpretation of Genet’s signature. According to Derrida, Genet does not resist dialectics because he is a pederast, thief or traitor, as Sartre claims, but rather because of the (...) way he places his signature on everything he writes. However, my analysis of Derrida’s attempt to sign Genet’s text indicates that it constitutes a subtle critique of Genet. Drawing on some often-overlooked analyses by Derrida, I suggest that even Genet’s writing may not be able to escape dialectics because no signature is absolutely singular. (shrink)

The study of the early manuscripts of the great authors most often becomes a process of monumentalising or (re)legitimising their work. The recent publication of two of Sartre's early manuscripts – first Empédocle (Empedocles) in 2016 and second, in 2018, his dissertation for his graduate diploma (diplôme d’études supérieures or DES), L'Image dans la vie psychologique (The Image in Psychological Life), both texts written in 1926–1927 – encourages us to propose another type of genetic reading that insists on (...) the collective conditions of the production of knowledge, including philosophical knowledge. Such a collective genetics, applied to Sartre's intellectual formation during the interwar years, allows us to highlight some of the little-known forms of Parisian intellectual societies (the activities of the International Information Group of the École Normale Supérieure, the critical logic of the psychology journals, the regular meetings of the cenacles, and the literary and philosophical research groups). It also reveals, at the same time, the original relationship between Sartre's thought and the German literature and philosophy mediated to him by Bernard Groethuysen, Stefan Zweig and Alexandre Koyré. (shrink)

Several philosophers have questioned the possibility of a genetic epistemology, an epistemology concerned with the developmental transitions between successive states of knowledge in the individual person. Since most arguments against the possibility of a genetic epistemology crucially depend upon a sharp distinction between the genesis of an idea and its justification, I argue that current philosophy of science raises serious questions about the universal validity of this distinction. Then I discuss several senses of the genetic fallacy, indicating (...) which sense of ‘genesis’ is relevant to epistemology. Next I consider the objection that psychology is irrelevant to epistemology, and that since "genetic epistemology" is really psychology, "genetic epistemology" is irrelevant to a real epistemology. Finally, I take up the objection that nothing discovered in genetic psychology could be relevant to a genetic epistemology. These last two arguments are based upon what I claim to be a mistaken notion of the nature of psychology. Suitably interpreted, psychology can assist genetic epistemology precisely in the way that the history of science assists current philosonhv of science. *I owe considerable thanks to Jann Benson, Ken Freeman, Bernie Rollin and Ron Williams for their helpful discussions concerning many of the issues discussed in this paper. I also wish to thank David Hamlyn, John Heil, William Lycan, Harvey Siegel and an anonymous reviewer for their comments and suggestions. It goes without saying that none of these individuals (especially Hamlyn and Siegel) necessarily agree with me. An earlier version of this paper was read at Colorado State University where the audience's comments were beneficial. (shrink)

Background: When a genetic mutation is identified in a family member, internationally, it is usually the proband’s or another responsible family member’s role to disclose the information to at-risk relatives. However, both active and passive non-disclosure in families occurs: choosing not to communicate the information or failing to communicate the information despite intention to do so, respectively. The ethical obligations to prevent harm to at-risk relatives and promote the duty of care by genetic health professionals is in conflict (...) with Privacy laws and professional regulations that prohibits disclosure of information to a third party without the consent of the proband. In New South Wales, Australia, amendments to Privacy legislation permits such disclosure to living genetic relatives with the process defined under guidelines although there is no legal duty to warn. This study assessed NSW GHP’s awareness and experience of the legislation and guidelines. Methods: An online survey collected demographics; theoretical knowledge; clinical scenarios to assess application knowledge; attitudes; confidence; experience with active non-disclosure. A link to correct answers was provided after completion. Knowledge scores above the median for non-parametric data or above the mean for parametric data were classified as ‘good’ or ‘poor’. Chi square tests assessed associations between confidence and knowledge scores. Results: While many of the 37 participants reported reading the guidelines, there was limited awareness of their scope and clinical application; that there is no legal duty to warn; and that the threat does not need to be imminent to warrant disclosure. No association between confidence and ‘good’ theoretical or applied clinical knowledge was identified. Uncertainty of their professional responsibility was identified and in the several case examples of active non-disclosure that were reported this uncertainty reflected the need for further understanding of the guidelines in regard to the processes required before disclosure was initiated. Conclusions: There is a need for further education and training about the guidelines associated with the legislation that would be relevant to support disclosure. The findings may inform future strategies to support introduction of policy changes in other jurisdictions where similar regulatory regimes are introduced. (shrink)

Conserved upstream open reading frames (uORFs) are found within many eukaryotic transcripts and are known to regulate protein translation. Evidence from genetic and bioinformatic studies implicates disturbed uORF‐mediated translational control in the etiology of human diseases. A genetic mouse model has recently provided proof‐of‐principle support for the physiological relevance of uORF‐mediated translational control in mammals. The targeted disruption of the uORF initiation codon within the transcription factor CCAAT/enhancer binding protein β (C/EBPβ) gene resulted in deregulated C/EBPβ protein (...) isoform expression, associated with defective liver regeneration and impaired osteoclast differentiation. The high prevalence of uORFs in the human transcriptome suggests that intensified search for mutations within 5′ RNA leader regions may reveal a multitude of alterations affecting uORFs, causing pathogenic deregulation of protein expression. (shrink)

Recent theoretical work has identified a tightly-constrained sense in which genes carry representational content. Representational properties of the genome are founded in the transmission of DNA over phylogenetic time and its role in natural selection. However, genetic representation is not just relevant to questions of selection and evolution. This paper goes beyond existing treatments and argues for the heterodox view that information generated by a process of selection over phylogenetic time can be read in ontogenetic time, in the course (...) of individual development. Recent results in evolutionary biology, drawn both from modelling work, and from experimental and observational data, support a role for genetic representation in explaining individual ontogeny: both genetic representations and environmental information are read by the mechanisms of development, in an individual, so as to lead to adaptive phenotypes. Furthermore, in some cases there appears to have been selection between individuals that rely to different degrees on the two sources of information. Thus, the theory of representation in inheritance systems like the genome is much more than just a coherent reconstruction of information talk in biology. Genetic representation is a property with considerable explanatory utility. (shrink)

The question of whether “genetic information” is a merely causal factor in development or can be made sense of semantically, in a way analogous to a language or other type of representation, has generated a long debate in the philosophy of biology. It is intimately connected with another intense debate, concerning the limits of genetic determinism. In this paper I argue that widespread attempts to draw analogies between genetic information and information contained in books, blueprints or computer (...) programs, are fundamentally inadequate. In development, gene exons are the central part of an intricate and densely ramified semantic Genetic Informational Network. DNA in the entire genome is in a state of continuous positive and negative feedback with itself and with its ‘environment’, and is ‘read’ and acted upon by the cell in various alternative and complementary ways. The linear combinatorial coding relation between codons and amino acids is but one aspect of semantic genetic information, which is, when considered in its entirety, a far wider and richer concept. (shrink)

Elger splendidly describes the evolving global responses---both creative and misguided---to the ethical challenges arising in research using genetic databases and offers thoughtful suggestions for balancing the interests of science and `donors'. As insightful as it is comprehensive, this book is essential reading not only for bioethicists but for anyone who uses, oversees, or simply wants to understand biobanks, which are playing an increasingly essential role in biomedical and epidemiological research. Alexander M. Capron, University of Southern California, USA --.

Although neither the genome nor the environment can be manipulated in research on human behaviour, some of the new tools of molecular genetics can be brought to bear on human behavioural disorders (e.g. cognitive disabilities) and quantitative traits (e.g. cognitive abilities). The inability to manipulate the human genome experimentally has had the positive effect of focusing attention on naturally occuring genetic variation responsible for behavioural differences among individuals in all their complex multifactorial splendour. Genes in such complex multiple‐gene systems (...) are called quantitative trait loci (QTLs), which merge the two worlds of genetic research, quantitative genetics and molecular genetics. Although most genetic research on complex human behaviour has focused on severe mental disorders, cognitive abilities and disabilities may be even more immediately relevant to neuroscience. For example, verbal ability and spatial ability are two of the most heritable cognitive abilities, and reading disability is the first behavioural disability for which replicated QTL linkage has been found. The purpose of this essay is to provide an overview of the genetics of cognitive abilities and disabilities as an example of the impending merger of quantitative genetics and molecular genetics in QTL analysis of complex traits. (shrink)

It is illegitimate to read any ontology about "race" off of biological theory or data. Indeed, the technical meaning of "genetic variation" is fluid, and there is no single theoretical agreed-upon criterion for defining and distinguishing populations (or groups or clusters) given a particular set of genetic variation data. Thus, by analyzing three formal senses of "genetic variation"—diversity, differentiation, and heterozygosity—we argue that the use of biological theory for making epistemic claims about "race" can only seem plausible (...) when it relies on the user’s own assumptions about race; the move from biological measures to claims about “race” inevitably amounts to a pernicious reification. We also excavate assumptions in the history of the technical discourse over the concept of "race" (e.g., Livingstone's and Dobzhansky's 1962 exchange, Edwards' 2003 response to Lewontin 1972, as well as contemporary discussions of cladistic "race", and "races" as clusters). We show that claims about the existence (or non-existence) of "race" are underdetermined by biological facts, methods, and theories. Biological theory does not force the concept of "race" upon us; our social discourse, social ontology, and social expectations do. We become prisoners of our abstractions at our own hands, and at our own expense. (shrink)

Classic Readings and Cases in the Philosophy of Law Susan Dimock Canada Pearson With over sixty cases as support, this text presents the philosophy of law as a perpetual series of debates with overlapping lines and cross connections. Using law as a focus to bring into relief many social and political issues of pressing importance in contemporary society, this book encourages readers to think critically and philosophically. "Classic Readings and Cases in the Philosophy of Law" centers on five major questions: (...) What is law? What, if any, connection must there be between law and morality? When should law be used to restrict the liberty of individuals? To what extent should democratic states permit civil disobedience? What, if anything, justifies the infliction of punishment on those who violate the law? The extensive anthology of cases covers the mundane to the grandest of constitutional issues, including controversial topics like ownership of genetic material, capital punishment, and gay rights. Brief introductions to each case describe the central issue being litigated, the legal reasoning of the justices both majority and dissenting the decision of the court, and its philosophical significance. Please visit us at www.ablongman.com ". (shrink)

This analysis scrutinises the rhetorical strategies used by judges in wrongful life and wrongful birth actions as evidence for the assertion that the judicial reading of public policy in such cases has undergone a significant shift which is likely to accelerate as genetic knowledge grows and health care resources shrink. The implications of the predicted move towards increased genetic testing of prospective parents are traversed in relation to feminist analyses of the impact of genetics on reproductive technology. (...) These are viewed as forming a nexus with the current social constructions of disability and the contemporary cultural preoccupation with risk, in a context of the increasing commercial importance of genetic information. It is argued that women cannot make free and informed choices about genetic testing and pregnancy unless legal and social mechanisms which protect those choices are in place. (shrink)