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.

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)

Fan (2010) did a good job in applying his interpretation of Confucian ethics of giftedness to genetic enhancement. To him, it is God-like Heaven that gives lives to us and our ancestors as gifts th...

The field of bioethics aims to ensure that modern scientific and technological advancements have been primarily developed for the benefits of humankind. This field is deeply rooted in the traditions of Western moral philosophy and socio-political theory. With respect to the view that the practice of bioethics in certain community should incorporate religious and cultural elements, this paper attempts to expound bioethical tradition of the Malay-Muslim community in Malaysia, with shedding light on the mechanism used by the National Fatwa Council (...) to evaluate whether an application of biological sciences is ethical or not. By using the application of the genetically modified food as a case study, this study has found that the council had reviewed the basic guidelines in the main references of shari'ah in order to make decision on the permissibility of the application. The fatwa is made after having consultation with the experts in science field. The council has taken all factors into consideration and given priority to the general aim of shari'ah which to serve the interests of mankind and to save them from harm. (shrink)

Genetically modified organisms have increasingly dominated commodity crop production in the world in the endeavour to address issues related to food security. However, this technology is not without problems, and can give rise to bioethical issues for consumers, particularly Muslims. The Islamic perspective on GMOs is complex and goes beyond just the determination of whether food is halal or not. If the food is halal, but the process to obtain it is not thoyibban, as it is unethical, then the food (...) cannot be permitted under the Maqasid al-Shari’ah. This paper examines ethical issues pertaining to GM crops and how the related ethical issues contradict with Islamic principles beyond the binary distinction between the contaminated and uncontaminated food. Since GM technology is a contemporary issue that may not be directly addressed in the al-Quran and Sunnah, other Islamic sources should also be referred to when drawing up this code of ethics to achieve the objective of Syariah. Maqasid al-Shari’ah can be applied to frame the Islamic bioethics guideline as it is comprehensive and encompasses moral principles directly applicable to modern biotechnology. The paper subsequently explores how the principles of Maqasid al-Shari’ah are applied in addressing these ethical issues. (shrink)

Small gaseous molecules play important roles in biological signaling in both animal and plant physiology. The hydrocarbon gas ethylene has long been known to regulate diverse aspects of plant growth and development, including fruit ripening, leaf senescence and flower abscission. Recent progress has been made toward identifying components involved in ethylene signal transduction in the plant Arabidopsis thaliana. Ethylene is perceived by five receptors that have similarity to two‐component signaling proteins. The hydrophobic amino‐terminus of the receptors binds ethylene, and mutations (...) in this domain both prevent ethylene binding and confer ethylene insensitivity to the plant; the carboxyl‐terminal portion of the receptors has similarity to bacterial his tidine protein kinases. Genetic data suggest a model in which ethylene binding inhibits receptor signaling, yet precisely how these receptors function is unclear. Two of the receptors have been found to associate with a negative regulator of ethylene responses called CTR1, which appears to be a mitogen‐activated protein kinase (MAPK) kinase kinase. BioEssays 23:619–627, 2001. © 2001 John Wiley & Sons, Inc. (shrink)

<2020 Buddhist Book Award (2nd place), Korea> <2020 Sejong Book Award, Korea> The book discusses and provides solutions for the philosophical issues of Aristotelian essentialist biology, Darwin’s evolutionary theory, and contemporary molecular biology in light of Buddhist concepts of dependent arising and emptiness. CONTENT 1. Buddhist Teachings from the perspective of Bioscience 2. Bioscience from the Perspective of Buddhist Teachings 3. Enlightenment, Compassion and Bioscientific Phenomena 4. Enlightenment, Revolutionary Change of Worldview 5. The Buddhist Understanding of Development in Biology 1 (...) 6. The Buddhist Understanding of Development in Biology 2 7. The Buddhist Understanding of Development 1 8. The Buddhist Understanding of Development 2 9. The Buddhist Understanding of Aging 10. The Buddhist Understanding of Sickness 11. The Buddhist Understanding of Death 1 12. The Buddhist Understanding of Death 2 13. The Buddhist Understanding of Species 1 14. The Buddhist Understanding of Species 2 15. The Concept of Gene and its History 16. Genetic Dualism and Buddhist Criticism 17. The Buddhist Understanding of the Gene 1 18. The Buddhist Understanding of the Gene 2 19. Evolution is not Progress but Changes 20. Evolution is neither Deterministic nor Indeterministic. It is the Process of Interdependent Arising 21. Reconsidering Chance and Necessity 22. What Darwin Left Us 23. The Evolution of Buddhism 1 24. The Evolution of Buddhism 2 . (shrink)

Representationalism is a philosophical position which reduces all phenomenal conscious states to intentional states. However, starting from the phenomenal consciousness, the phenomenal intentionality theory provides an explanation of all sorts of intentionality. Against Michael Shim's interpretation, I argue that, although Hussserl's phenomenology is certainly considered as an antipode of strong representationalism, Husserl does not stand in opposition the weak representationalists, because Husserl maintains an essential connection between the senses of noemata and the hyletic data. In addition, Husserl's phenomenology is also (...) consistent with the phenomenal theory of intentionality. According to him, statically and genetically, all non-phenomenal intentional states take a recourse to phenomenal intentional states and eventually to sensual perceptions. (shrink)

© 2015, Springer-Verlag Berlin Heidelberg.Genetic studies have identified single nucleotide polymorphisms associated with the risk of prostate cancer. It remains unclear whether such genetic variants are associated with disease aggressiveness. The NCI-SPORE Genetics Working Group retrospectively collected clinicopathologic information and genotype data for 36 SNPs which at the time had been validated to be associated with PC risk from 25,674 cases with PC. Cases were grouped according to race, Gleason score and aggressiveness. Statistical analyses were used to compare (...) the frequency of the SNPs between different disease cohorts. After adjusting for multiple testing, only PC-risk SNP rs2735839 was significantly and inversely associated with aggressive and high-grade disease in European men. Similar associations with aggressive and high-grade disease were documented in African-American subjects. The G allele of rs2735839 was associated with disease aggressiveness even at low PSA levels in both European and African-American men. Our results provide further support that a PC-risk SNP rs2735839 near the KLK3 gene on chromosome 19q13 may be associated with aggressive and high-grade PC. Future prospectively designed, case-case GWAS are needed to identify additional SNPs associated with PC aggressiveness. (shrink)

The developmental history of the vertebrate eye begins at an early embryonic stage, with the formation of the body axes and induction of neural tissue. Several recent experimental embryological and genetic studies in teleost fish have produced new insights into the morphogenetic and molecular regulation of eye formation. Molecular signaling pathways and patterned expression of transcription factors implicated in eye determination are discussed, and the importance of morphogenetic cell movements is emphasized. BioEssays 24:519–529, 2002. © 2002 Wiley Periodicals, Inc.

This innovative book focuses on the development of the gene theory as a case study in scientific creativity.

This paper sets out to defend human genetic engineering with a new bioethical approach, post-humanism, combined with a radical democratic political framework. Arguments for the restriction of human genetic engineering, and specifically germ-line enhancement, are reviewed. Arguments are divided into those which are fundamental matters of faith, or "bio-Luddite" arguments, and those which can be addressed through public policy, or "gene-angst" arguments.The four bio-Luddite concerns addressed are: Medicine Makes People Sick; There are Sacred Limits of the Natural Order; (...) Technologies Always Serve Ruling Interests; The Genome is Too Complicated to Engineer. I argue that these are matters of faith that one either accepts or rejects, and that I reject.The non-fundamentalist or pragmatic concerns I discuss are: Fascist Applications; The Value of Genetic Diversity; The Geneticization of Life; Genetic Discrimination and Confidentiality; Systematically Bad Decisions by Parents; Discrimination Against the Disabled; Unequal Access; The Decline of Social Solidarity. I conclude that all these concerns can be adequately addressed through a proactive regulative framework administered by a liberal democratic state. Therefore, even germ-line genetic enhancement should eventually made available since the potential benefits greatly outweigh the potential risks. (shrink)

Biomedical ontologies are emerging as critical tools in genomic and proteomic research where complex data in disparate resources need to be integrated. A number of ontologies exist that describe the properties that can be attributed to proteins; for example, protein functions are described by Gene Ontology, while human diseases are described by Disease Ontology. There is, however, a gap in the current set of ontologies—one that describes the protein entities themselves and their relationships. We have designed a PRotein Ontology (PRO) (...) to facilitate protein annotation and to guide new experiments. The components of PRO extend from the classification of proteins on the basis of evolutionary relationships to the representation of the multiple protein forms of a gene (products generated by genetic variation, alternative splicing, proteolytic cleavage, and other post-translational modification). PRO will allow the specification of relationships between PRO, GO and other OBO Foundry ontologies. Here we describe the initial development of PRO, illustrated using human proteins from the TGF-beta signaling pathway. (shrink)

Despite the (serious) global concerns about the safety and genetic stability of genetically modified organisms, the Malaysian National Biosafety Board (NBB) has recently approved the field testing for genetically modified (GM) male mosquitoes. With this development, bioethical issues, which in some respect could adversely impinge on the social, economic and environmental aspects of the society, have surfaced, and these concerns must be addressed by the authorities concerned. In reviewing this application, the National Biosafety Board has followed the requirements of (...) the Biosafety Act 2007, which was created to strike a balance between promoting biotechnology and at the same time protecting against its potential environmental and human health risks in Malaysia. However, the 2007 Act fails to adequately take into account any bioethical issues in spite of the inclusion of a provision on socio-economic consideration. As part of an ongoing doctoral research project, and by way of an instrumental critique of the 2007 Act, the present paper attempts to address the role and function of the Malaysia biosafety legal framework in governing bioethical concerns relating to Genetically Modified Organisms (GMOs) within the current biotechnology background in Malaysia. Additionally, the paper suggests that the ambiguity of the provisions contained within the 2007 Act in governing such concerns, representing wider societal interests and welfare, in some ways might defeat the balancing role that this act was originally intended to fulfil. (shrink)

In 1969, the field of human genetics was in its infancy. Amniocentesis was a new technique for prenatal diagnosis, and a newborn genetic screening program had been established in one state. There were also concerns about the potential hazards of genetic engineering. A research group at the Hastings Center and Paul Ramsey pioneered in the discussion of genetics and bioethics. Two principal techniques have emerged as being of enduring importance: human gene transfer research and genetic testing and (...) screening. This essay tracks the development and use of these techniques and considers the ethical issues that they raise. (shrink)

Bonnie Rochman's first book, The Gene Machine: How Genetic Technologies Are Changing the Way We Have Kids—and the Kids We Have, is an impressive work of science journalism that provides a compelling introduction to some of the most important ethical questions raised by genetic technologies. Written for a general audience, The Gene Machine is a model for how to approach contentious ethical questions with equanimity, compassion, and, most importantly, accurate information. Rochman elucidates the facts, gives voice to the (...) most relevant interested parties, including families and experts, and lets readers draw their own conclusions. There are multiple points of entry for interested ethicists who might want to push... (shrink)

The book focuses on the modern understanding of human life-forms as constructs that followed an evolutionary history. The author thus finds science confronted with two questions: firstly, how the transgression of the virtual threshold between natural and cultural history was possible, secondly, how the socio-cultural constructs were able to develop in the course of history the way they did. The discussion concentrates on the problem of determining a processual logic in the development of societal structures as well as in the (...) development of cognition. The focus of attention is the historico-genetic reconstruction of cognition. The book was originally published in German as Historisch-genetische Theorie der Kultur (Weilerswist 2000: Velbrück). (shrink)

Genetic testing has historically been performed in the context of chronic disease and cancer diagnostics. The timelines for these tests are typically measured in days or weeks, rather than in minutes. As such, the concept that genetic information might be generated and then used to alter management in the acute setting has, thus far, not been feasible. However, recent advances in genetic technologies have the potential to allow genetic information to be generated significantly quicker. The m.1555A>G (...) genetic variant is present in one in 500 individuals and predisposes to profound hearing loss following the administration of aminoglycoside antibiotics. These antibiotics are used frequently in cases of neonatal sepsis and it is estimated that approximately 180 neonates in the UK are at risk of antibiotic induced hearing loss each year because of this genetic change. Knowledge of this variant in the acute setting would allow clinicians to prescribe alternative antibiotics. The Pharmacogenetics to Avoid Loss of Hearing study will implement a genetic point of care test (POCT) for the m.1555A>G variant within two major UK based neonatal intensive care units. This represents the first trial of a genetic POCT aimed at altering management in the acute setting. This round table discussion outlines the novel ethical issues faced in the development of this trial and the legal barriers to implementation. We ask five stakeholders to provide their opinions on this trial and their perspectives on the concept of genetic testing in the acute setting.Trial registration numberISRCTN-13704894. (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)

BackgroundTo investigate the factors related to approval after review by an Institutional Review Board, the structure equation model was used to analyze the latent variables ‘investigators’, ‘vulnerability’ and ‘review process’ for 221 proposals submitted to our IRB.MethodsThe vulnerability factor included vulnerable cases, and studies that involved drug tests and genetic analyses. The principal investigator factor included the license level of the PI and whether they belonged to our institution. The review factor included administration time, total review time, and revision (...) frequency. The revision frequency and total review time influenced the efficiency of review.ResultsThe latent variable of reviewing was the most important factor mediating the PIs and vulnerability to IRB review approval. The local PIs moderated with genetic study and revision frequency had an impact on the review process and mediated non-approval.ConclusionsBetter guidance of the investigators and reviewers might improve the efficiency with which IRBs function. (shrink)

This chapter contains sections titled: The Various Uses of Genetic Engineering The Disability Rights Challenge to the Prevention of Disabilities The Goal of a World without Disabilities Use of Genetic Engineering to Enhance Normal Function Environmental versus Genetic Changes When are Enhancements Benefits? The Magnitude of Enhancement The Means Used for Enhancement Who is Using Genetic Engineering? Impact of Genetic Engineering on Fairness and Inequality Acknowledgments.

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)

The “Lošinj Declaration on Biotic Sovereignty” is a novelty in the consideration of the environment and life in general and a unique document on a global scale. Until the advent of the Declaration, the environment was usually considered in an instrumentalist way, following the prevailing techno-scientific paradigm. The Declaration introduces biotic sovereignty as the starting point for the debate on GMOs, from which the harmfulness or potential benefits of genetic engineering can be assessed. The protection of biotic sovereignty should (...) be one of the crucial values that European and Croatian citizens should defend in the upcoming struggle to change and probably drastically reduce the regulatory regime for genetically modified crops in the European Union and thus also in Croatia. In this paper, we highlight the importance of the “Lošinj Declaration on Biotic Sovereignty” in the context of the emergence of new gene regulation techniques that are becoming a threat to biotic sovereignty. We analyse the lobbying process against the ruling C-528/16 using the example of the scientists united in the network EU-SAGE. The central part of the paper analyses the controversy over a new European Commission study on new genetic techniques and the political context of the conflict between the European Commission and the European Parliament over the authorisation of new seed varieties of genetically modified crops. (shrink)

The logic of genetic discovery has changed little over time, but the focus of biology is shifting from simple genotype–phenotype relationships to complex metabolic, physiological, developmental, and behavioral traits. In light of this, the traditional reductionist view of individual genes as privileged difference‐making causes of phenotypes is re‐examined. The scope and nature of genetic effects in complex regulatory systems, in which dynamics are driven by regulatory feedback and hierarchical interactions across levels of organization are considered. This review argues (...) that it is appropriate to treat genes as specific actual difference‐makers for the molecular regulation of gene expression. However, they are often neither stable, proportional, nor specific as causes of the overall dynamic behavior of regulatory networks. Dynamical models, properly formulated and validated, provide the tools to probe cause‐and‐effect relationships in complex biological systems, allowing to go beyond the limitations of genetic reductionism to gain an integrative understanding of the causal processes underlying complex phenotypes. (shrink)

This article offers a close examination of a small selection of pedigrees taken from German Mendelian and eugenic scholarship of the 1920s and 1930s. It examines the procedures that became customary for presenting data on human inherited pathologies, as well as the frequent changes in the information content of those charts. Relevant biographical and genealogical data was removed, and important indications regarding the diagnostic methods applied by the investigating scholar were lost, as soon as a pedigree was charted or (...) reproduced. Data on healthy individuals was condensed, leading to an emphasis on the hereditary burden of pathological traits. At times, healthy individuals were entirely omitted, as were exogenous martial partners. These modifications paved the way for further theoretical amendments, including the addition of ‘carrier’ status to chosen individuals along the pedigree. With this addition, these pedigrees changed their ontological status, from empirical records of human reproduction to partially hypothetical illustrations of Mendelian theory itself. This process was complemented by the representation of theoretical genetic models in the format of a human pedigree. A comparison to practices of charting pedigrees still common today suggests that the processes hereby revealed are far from exceptional. In line with the ideas put forward by Ludwik Fleck, they are interpreted as germane to the way scientific ideas are communicated and propagated and to the scientific culture of genetics. The article also offers a refinement to Fleck’s analysis of textbook construction, which highlights the extent to which textbook examples differ from the original data on which they are based. (shrink)

BackgroundAs a consequence of precision medicine initiatives, genomic technologies have rapidly spread around the world, raising questions about genetic privacy and the ethics of data sharing. Previous scholarship in bioethics and science and technology studies has made clear that different nations have varying expectations about trust, transparency, and public reason in relation to emerging technologies and their governance. The key aims of this article are to assess genetic literacy, perceptions of genetic testing, privacy concerns, and governing norms (...) amongst the Singapore population by collecting surveys.MethodsThis study investigated genetic literacy and broad public attitudes toward genetic tests in Singapore with an online public survey (n = 560). To assess potential changes in attitudes following receipt of results from a genetic test, we also surveyed undergraduate students who underwent a genetic screen as part of a university class before and after they received their test results (n = 25).ResultsPublic participants showed broad support for the use of genetic tests; scored an average of 48.9% in genetic literacy; and expressed privacy concerns over data sharing and a desire for control over their genetic data. After taking a genetic test and receiving genetic test results, students reported less fear of genetic tests while other attitudes did not change significantly.ConclusionThese findings highlight the potential of genetic education and active engagement with genetic testing to increase support and participation in genomic projects, PM, and biobanking initiatives; and they suggest that data privacy protections could potentially reduce discrimination by giving participants control over who can access their data. More specifically, these findings and the dataset we provide may be helpful in formulating culturally sensitive education programs and regulations concerning genomic technologies and data privacy. (shrink)

Population genetics attempts to measure the influence of the causes of evolution, viz., mutation, migration, natural selection, and random genetic drift, by understanding the way those causes change the genetics of populations. But how does it accomplish this goal? After a short introduction, we begin in section (2) with a brief historical outline of the origins of population genetics. In section (3), we sketch the model theoretic structure of population genetics, providing the flavor of the ways in which population (...) genetics theory might be understood as incorporating causes. In sections (4) and (5) we discuss two specific problems concerning the relationship between population genetics and evolutionary causes, viz., the problem of conceptually distinguishing natural selection from random genetic drift, and the problem of interpreting fitness. In section (6), we briefly discuss the methodology and key epistemological problems faced by population geneticists in uncovering the causes of evolution. Section (7) of the essay contains concluding remarks. (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)

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)

Twenty-first-century biology rejects genetic determinism, yet an exaggerated view of the power of genes in the making of bodies and minds remains a problem. What accounts for such tenacity? This article reports an exploratory study suggesting that the common reliance on Mendelian examples and concepts at the start of teaching in basic genetics is an eliminable source of support for determinism. Undergraduate students who attended a standard ‘Mendelian approach’ university course in introductory genetics on average showed no change in (...) their determinist views about genes. By contrast, students who attended an alternative course which, inspired by the work of a critic of early Mendelism, W. F. R. Weldon, replaced an emphasis on Mendel’s peas with an emphasis on developmental contexts and their role in bringing about phenotypic variability, were less determinist about genes by the end of teaching. Improvements in both the new Weldonian curriculum and the study design are in view for the future. (shrink)

Bioethics, Volume 36, Issue 5, Page 556-568, June 2022.

This book brings together an international collection of experts in reproductive ethics, law, disability studies, and medicine to explore the challenging future of reproduction and children. From the medical to the social and from the financial to the legal, the authors explore the expanding impact of reproductive genetics on our society. New advances in genetic technologies are revolutionizing the practice of reproductive medicine. We have expanded our ability to detect genetic changes in embryos and fetuses in ways (...) that potentially allow to identify, treat, or prevent a growing range of diseases. The development of gene-editing technologies raises questions about the possibility of removing disease-causing variants from embryos before pregnancy implantation. The growing sophistication of prenatal genomic sequencing offers us glimpses into the whole genome of the developing fetus. And, the increasingly sophisticated science of 'gene matching' allows us greater and greater foreknowledge of how the genomes of two individuals will combine in a future child. This is an indispensable book on the newest developments in bioethics caused by the sciences. Chapter 5 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com. (shrink)

There is a growing consensus that results generated through multiplex genetic tests, even those produced as a part of research, should be reported to providers and patients when they are considered “actionable,” that is, when they could be used to inform some potentially beneficial clinical action. However, there remains controversy over the precise criterion that should be used in identifying when a result meets this standard. In this paper, we seek to refine the concept of “actionability” by exploring one (...) proposed use for genetic test results. We argue that genetic test results indicating that a patient is at risk for developing a chronic health condition should not be considered actionable if the only potential value of that result is to motivate patients to make changes in their health behaviors. Since the empirical research currently available on this question is equivocal, we explore relevant psychological theories of human motivation to demonstrate that current theory does not support the assumption that information about genetic risk will be motivating to most patients in their attempts to make changes in health behaviors. (shrink)

Genetic variation in fitness is the fundamental prerequisite for adaptive evolutionary change. If there is no variation in survival and reproduction or if this variation has no genetic basis, then the composition of a population will not evolve over time. Consequently, the factors influencing genetic variation in fitness have received close attention from evolutionary biologists. One key factor is the mode of reproduction. Indeed, it has long been thought that sex enhances fitness variation and that this explains (...) the ubiquity of sexual reproduction among eukaryotes. Nevertheless, theoretical studies have demonstrated that sex need not always increase genetic variation in fitness. In particular, if fitness interactions among beneficial alleles (epistasis) are positive, sex can reduce genetic variance in fitness. Empirical data have been sorely needed to settle the issue of whether sex does enhance fitness variation. A recent flurry of studies1-4 has demonstrated that sex and recombination do dramatically increase genetic variation in fitness and consequently the rate of adaptive evolution. Interpreted in light of evolutionary theory, these studies rule out positive in these experiments epistasis as a major source of genetic associations. Further studies are needed, however, to tease apart other possible sources. BioEssays 25:533–537, 2003. © 2003 Wiley Periodicals, Inc. (shrink)

As genetic and genomic research has progressed since the sequencing of the human genome, scientists have continued to struggle to understand the role of genetic and socio-cultural factors in racial and ethnic health disparities. Recognition that race and ethnicity correlate imperfectly with differences in allele frequency, environmental exposures, and significant health outcomes has made framing the relationship between genetic variation, race, ethnicity, and disease one of the most heated debates of the genome era. Because racial and ethnic (...) identities reflect a complicated mix of social and genetic factors, critics have argued that use of racial and ethnic categories as analytical variables in biomedical research lacks rigor, leads to potentially dangerous stereotyping in medical practice, and sends harmful messages of innate racial difference to the broader public.Concerns over the current lack of diversity in human genetic and genomic studies have developed in parallel to discussions of the appropriate use of racial and ethnic categories during the research process. (shrink)