Genetics

BackgroundThe return of genetics and genomics research results has been a subject of ongoing global debate. Such feedback is ethically desirable to update participants on research findings particularly those deemed clinically significant. Although there is limited literature, debate continues in African on what constitutes appropriate practice regarding the return of results for genetics and genomics research. This study explored perspectives and ethical considerations of Ugandan genomics researchers regarding the return of genetics and genomics research results.MethodsThis was a qualitative study that (...) employed in-depth interviews. Thirty participants were purposively selected based on their expertise as genomics researchers in Uganda. Data were analysed through content analysis along the main themes of the study using a comprehensive thematic matrix, to identify common patterns arising from the narratives. NVivo software 12 was used to support data analysis.ResultsThe return of genetics and genomics research results was generally acceptable to researchers, and some indicated that they had previously returned individual or aggregate results to participants and communities. The main reasons cited for sharing research results with participants included their clinical utility, actionability and overall benefit to society. Ethical considerations for appropriate return of results included a need for effective community engagement, genetic counselling prior to disclosure of the results, adequate informed consent, and proper assessment of the implications of, or consequences of returning of results. However, the approaches to return of results were perceived as unstandardized due to the lack of appropriate regulatory frameworks.ConclusionsThe return of genetic and genomic research results is generally acceptable to researchers despite the lack of appropriate regulatory frameworks. Ethical considerations for return of genetics and genomics research results are highly divergent, hence the need for national ethical guidelines to appropriately regulate the practice. (shrink)

This article overviews Hume’s thoughts on the nature and the role of imagining, with an almost exclusive focus on the first book of his Treatise of Human Nature. Over the course of this text, Hume draws and discusses three important distinctions among our conscious mental episodes : between impressions and ideas ; between ideas of the memory and ideas of the imagination; and, among the ideas of the imagination, between ideas of the judgement and ideas of the fancy. I discuss (...) each distinction in turn, also in connection to contemporary views on imagining. In addition, I briefly consider Hume’s views on the imagination as a faculty aimed at the production of ideas, as well as on the role that imagining plays in the wider context of our mental lives, notably in the acquisition of modal knowledge and in the comprehension of stories and opinions that we take to be false or fictional. (shrink)

Hume’s account of the scope of justice, many think, is implausibly narrow, applying almost exclusively to respect for property rights. Such a view would indeed be highly objectionable because it would leave out of the scope of justice altogether requirements to keep our promises, obey the law, and refrain from threats and violence (among many others). I argue that Hume's theory of justice, properly understood, avoids this objection. And seeing how is instructive because once we understand his account correctly, we (...) can appreciate its resources for offering attractive explanations of why a number of diverse phenomena fall within the scope of justice. Overcoming this challenge is a major stepping stone on the way to seeing Hume’s theory of justice as a genuine competitor with the other major theories of justice in the philosophical literature. (shrink)

As technology advances, the demand for innovative instructional materials also increases. As a result, the Department of Education urges teachers to develop instructional materials. This study was conducted at Bulusan National High School, Bulusan, Sorsogon, Philippines SY 2018-2019 which was aimed to develop gamified instructional materials in genetics that would aid in teaching and learning process of grade 12 STEM students. The developed gamified materials were collectively called the GIM in Genetics which is comprised of two parts; namely, Student’s Portfolio (...) and Gamified Lesson Plans. The GIM was anchored on the Teacher’s Guide provided by DepEd. Further, it utilized different game elements, to wit: game mechanics, badges, power cards, scoring system, levels, and leaderboards to deliver innovative teaching strategy and quality education. This paper suggests the development of various innovative teaching strategies and instructional materials as well as its utilization across different fields and subject areas. (shrink)

Prosper Lucas (1808–1885) is a unique figure in the history of psychiatric genetics. A physician-alienist, he authored one of the most important books on human genetics in the mid-19th century cited frequently by Darwin: the 1,500 page treatise—Philosophical and Physiological Treatise on Natural Heredity (1847–1850). This book contained a novel theory of the nature of inheritance and a detailed review of the heredity of a range of human traits and disorders, including various forms of insanity. Lucas postulated four forms of (...) heredity (direct, crossed, indirect, and atavistic), supported the importance of hereditary factors in insanity, accepted the inheritance of acquired characteristics, considered it important to examine both ancestors and collateral relatives, and recognized that heredity could influence both primary insanity and insanity secondary to other medical conditions. He reviewed the then available literature on most major forms of insanity including separate sections on hallucinations and suicidal monomania. The literature consisted of case reports of unusual families with high concentrations of illness. Lucas advocated for the homogeneity of transmission of forms of illness in families but recognized that—just as the form of illness could evolve within individuals over time—it could change forms when transmitted between relatives. (shrink)

M.A. University of KwaZulu-Natal, Durban 2014.

Since the completion of the human genome project in 2003, genomic sequencing, analysis, and interpretation have become staples of research in medicine and the life sciences more generally. While much ink has been spilled concerning genomics’ precipitous rise, there is little agreement among scholars concerning its meaning, both in general and with respect to our current moment. Some claim genomics is neither new, nor noteworthy; others claim it is a novel and worrisome instrument of newgenics. Contrary to the approaches of (...) Foucault scholars in both camps, in this paper I utilize research in philosophy of disability to argue that genomics is indeed noteworthy as a unique form of biopower and that its primary function is to precisify impairments in contradistinction to disability. I call the force at play in this process genopower. Insofar as genopower gears into powerful cultural tropes of self-knowledge and self-care and affirms individualistic solutions to social issues, the socio-political effect of genomics with respect to disability—despite the aims of many of its practitioners—is indeed to normalize what Rosemarie Garland-Thomson calls “velvet eugenics.”. (shrink)

No longer viewed by scientists as the cell’s fixed master molecule, DNA is a dynamic script that is ad-libbed at each stage of development. What our parents hand down to us is just the beginning. Genetic Explanations urges us to replace our faith in genetic determinism with scientific knowledge about genetic plasticity and epigenetic inheritance.

This paper is trying to put together two different researches, from theology and from genetics, about a general and undetermined topic, death. It is undetermined because no one can say something demonstrable and unequivocal about it, since no person alive can cross over the edge of life and come back from the domain of death with information about it. But we can discuss nevertheless things that are obvious and possible to be reasonably inferred about death even by livings. In this (...) regard Theology will provide the mainline of what is to be known as death for religion in general, while Genetics will try to come with its research to sustain or contradict the general premise: death is not an ontological behavior of living matter, but an imposed attribute after the sin occurred into the world. (shrink)

This article provides insight into the entwinement of the allegedly neutral category of handedness with questions of sex/gender, reproduction, dis/ability, and scientific authority. In the 1860s, Paul Broca suggested that the speech centre sat in the left brain hemisphere in most humans, and that right-handedness stemmed from this asymmetry. One century later, British psychologists Marian Annett and Chris McManus proposed biologically unconfirmed theories of how handedness and brain asymmetry were passed on in families. Their idea to integrate chance into genetic (...) models of handedness was novel, and so was their use of computerized statistics to parse out the incidence of handedness genotypes and phenotypes. Notwithstanding significant conceptual and methodological overlaps, McManus and Annett did not collaborate and proposed competing theories. I analyse the sexed/gendered dimensions of their controversy by drawing on published literature, unpublished documents, and oral history interviews. I first attend to the epistemological importance of sex/gender. Both psychologists published several iterations of their models, which increasingly relied on questions of sex/gender and reproduction. Annett additionally linked handedness with stereotypically gendered cognitive abilities. Second, I argue that using masculine-coded computer technologies contributed to Annett’s professional marginalization whereas similar methods endowed McManus with surplus authority. Finally, I show that Annett’s complicity in stabilizing sociocultural hierarchies within her theory mirrored her personal experience of marginalization based on sex/gender, age, education, and lack of institutional affiliation. This analysis exemplifies the entanglement of cognitive and social factors in scientific controversies and adds to the literature on 20th-century British women psychologists. (shrink)

The guiding premise from which this special report begins is the conviction and hope that justice is at the normative heart of medicine and that it is the perpetual task of bioethics to bring concerns of justice to bear on medical practice. On such an account, justice is medicine's lifeblood, that by which it contributes to life as opposed to diminishing it. It is in this larger, historical, intersectional, critical, and ethically minded context that we must approach pressing questions facing (...) medicine, including the question of the import and role of genomic knowledge for human life. The second premise is that, at least in principle, the knowledge generated by genomics can be a gift or a weight, or both at the same time. That is to say that, on the one hand, genomic knowledge is a gift, creating novel insights into the genetic drivers of disease and into the geographical paths of our ancestors. And on the other hand, it is a weight, creating new obligations, new forms of social classification, and new forms of surveillance. Because it is in many ways the “common sense” of the day that genomic knowledge is a gift, this special report, which contains nine essays, concentrates on the ways in which such knowledge can be a weight, a weight that has the potential to thwart—and historically has thwarted—medicine from genuinely advancing justice . (shrink)

The Institute on Religion in the Age of Science (IRAS) asked Ted Peters, an eminent theologian and bioethicist who was at the forefront of the cloning and stem cell debates in the past few decades, and myself, a molecular biologist, to invite scholars from various fields to brainstorm the religious and ethical implications of the CRISPR revolution. We invited keynote speakers, whose talks will be covered here, as well as other speakers and poster presentations. The conference also hosted question and (...) answer sessions, chaplain sessions, and discussions throughout the week at the beautiful Star Island in the summer of 2019. The purpose of this paper is to highlight and sample the discussions and presentations from that conference. I will organize them into three broad topics: CRISPR in science, ethics, and religion. For readers unfamiliar with CRISPR technology, this overview can also serve as an introduction to the field, and a stepping stone for future ideas for CRISPR discussions. (shrink)

Technologies for human germ‐line modification may soon enable humanity to create new types of human beings. Decisions about use of this power entail an unprecedented combination of difficulties: the stakes are immense, the unknowns are daunting, and moral principles are called into question. Evolved morality is not a sure basis for these decisions, both because of its inherent imperfections and because genetic engineering could eventually change humans’ innate cognitive mechanisms. Nevertheless, consensus is needed on moral values relevant to germ‐line modification. (...) These values could be based on characteristics of human beings that would remain constant regardless of revised genomes. (shrink)

This book offers a novel defence of a highly contested philosophical position: biological natural kind essentialism. This theory is routinely and explicitly rejected for its purported inability to be explicated in the context of contemporary biological science, and its supposed incompatibility with the process and progress of evolution by natural selection. Christopher J. Austin challenges these objections, and in conjunction with contemporary scientific advancements within the field of evolutionary-developmental biology, the book utilises a contemporary neo-Aristotelian metaphysics of "dispositional properties", or (...) causal powers, to provide a theory of essentialism centred on the developmental architecture of organisms and its role in the evolutionary process. By defending a novel theory of Aristotelian biological natural kind essentialism, Essence in the Age of Evolution represents the fresh and exciting union of cutting-edge philosophical insight and scientific knowledge. (shrink)

Social space is superimposed on the civilization map of the world whereas the social time is correlated with the duration of civilization existence. Within own civilization the concept space is non-homogeneous, there are “singled out points” — “concept factories”. As social structures, cities may exist rather long, sometimes during several millennia, but as concept centres they are limited by the duration of civilization existence. If civilization is a “concept universe”, nobody and nothing may cross the boundaries, which include cities as (...) well. Death of civilization leads to reboot cultural and historical space-time. On the other hand, reformatted olds concepts are not preserved, but there may be reception of old concepts and their new interpretation. However, even in case of genetic links presence, they are the other concepts and not modified old ones. Under certain circumstances may take place “rebranding” when attractive name is connected to the concept of absolutely different order to attach to it authority of the past. (shrink)

In The Future of Human Nature, Jürgen Habermas raises the question of whether the embryonic genetic diagnosis and genetic modification threatens the foundations of the species ethics that underlies current understandings of morality. While morality, in the normative sense, is based on moral interactions enabling communicative action, justification, and reciprocal respect, the reification involved in the new technologies may preclude individuals to uphold a sense of the undisposability of human life and the inviolability of human beings that is necessary for (...) their own identity as well as for reciprocal relations. Engaging with liberal bioethics and Catholic approaches to bioethics, the article clarifies how Habermas’ position offers a radical critique of liberal autonomy while maintaining its postmetaphysical stance. The essay argues that Habermas’ approach may guide the question of rights of future generations regarding germline gene editing. But it calls for a different turn in the conversation between philosophy and theology, namely one that emphasizes the necessary attention to rights violations and injustices as a common, postmetaphysical starting point for critical theory and critical theology alike. In 2001, Jürgen Habermas published a short book on questions of biomedicine that took many by surprise.[1] To some of his students, the turn to a substantive position invoking the need to comment on a species ethics rather than outlining a public moral framework was seen as the departure from the “path of deontological virtue,”[2] and at the same time a departure from postmetaphysical reason. Habermas’ motivation to address the developments in biomedicine had certainly been sparked by the intense debate in Germany, the European Union, and internationally on human cloning, pre-implantation genetic diagnosis, embryonic stem cell research, and human enhancement. He turned to a strand of critical theory that had been pushed to the background by the younger Frankfurt School in favor of cultural theory and social critique, even though it had been an important element of its initial working programs. The relationship of instrumental reason and critical theory, examined, among others, by Max Horkheimer, Theodor W. Adorno, and Herbert Marcuse and taken up in Habermas’ own Knowledge and Interest and Theory of Communicative Action became ever-more actual with the development of the life sciences, human genome analysis, and genetic engineering of human offspring. Today, some of the fictional scenarios discussed at the end of the last century as “science fiction” have become reality: in 2018, the first “germline gene-edited” children were born in China.[3] Furthermore, the UK’s permission to create so-called “three-parent” children may create a legal and political pathway to hereditary germline interventions summarized under the name of “gene editing.”In this article, I want to explore Habermas’ “substantial” argument in the hope that philosophy and theology become allies in their struggle against an ever-more reifying lifeworld, which may create a “moral void” that would, at least from today’s perspective, be “unbearable”, and for upholding the conditions of human dignity, freedom, and justice. I will contextualize Habermas’ concerns in the broader discourse of bioethics, because only by doing this, his concerns are rescued from some misinterpretations.[1] Jürgen Habermas, The Future of Human Nature.[2] Ibid., 125, fn. 58. 8[3] Up to the present, no scientific publication of the exact procedure exists, but it is known that the scientist, Jiankui He, circumvented the existing national regulatory framework and may have misled the prospective parents about existing alternatives and the unprecedented nature of his conduct. Yuanwu Ma, Lianfeng Zhang, and Chuan Qin, "The First Genetically Gene‐Edited Babies: It's “Irresponsible and Too Early”," Animal Models and Experimental Medicine ; Matthias Braun, Meacham, Darian, "The Trust Game: Crispr for Human Germline Editing Unsettles Scientists and Society," EMBO reports 20, no. 2. (shrink)

Lucas Matthews and I substantially revised my SEP entry on Heritability. This version includes discussion of the missing heritability problem and other issues that arise from the use of Genome Wide Association Studies by Behavioral Geneticists.

When explaining the causes of human behavior, genes are often given a special status. They are thought to relate to an intrinsic human 'essence', and essentialist biases have been shown to skew the way in which causation is assessed. Causal reasoning in general is subject to other pre-existing biases, including beliefs about normativity and morality. In this synthesis we show how factors which influence causal reasoning can be mapped to a framework of genetic essentialism, which reveals both the shared and (...) unique factors underpinning biases in causal reasoning and genetic essentialism. This comparison identifies overlooked areas of research which could provide fruitful investigation, such as whether normative assessments of behaviors influence the way that genetic causes are ascribed or endorsed. We also outline the importance of distinguishing reasoning processes regarding genetic causal influences on one's self versus others, as different cognitive processes and biases are likely to be at play. (shrink)

Una investigación realizada en humanos ha desvelado la existencia de ciertas variantes genéticas en la conformación del gen AVPR1A que se traducirían en una mayor o menor disposición y aptitud hacia la vida en pareja. Eso significa que la actividad de ese gen influiría en la calidad de la vida conyugal y muy probablemente interferiría en la orientación de nuestro mundo afectivo.

Research has revealed that genetic variations in the human gene AVPR1A affect the disposition and aptitude of individuals to live in a relationship. Thus the activity of this gene could influence the quality of marital relationships and very likely our emotional inclinations.

Many scientific models in biology are how-possibly models. These models depict things as they could be, but do not necessarily capture actual states of affairs in the biological world. In contemporary philosophy of science, it is customary to treat how-possibly models as second-rate theoretical tools. Although possibly important in the early stages of theorizing, they do not constitute the main aim of modelling, namely, to discover the actual mechanism responsible for the phenomenon under study. In the paper it is argued (...) that this prevailing picture does not do justice to the synthetic strategy that is commonly used in biological engineering. In synthetic biology, how-possibly models are not simply speculations or eliminable scaffolds towards a single how-actually model, but indispensable design hypotheses for a field whose ultimate goal is to build novel biological systems. The paper explicates this by providing an example from the study of alternative genetic systems by synthetic biologist Steven Benner and his group. The case will also highlight how the method of synthesis, even when it fails, provides an effective way to limit the space of possible models for biological systems. (shrink)

Three recent genome‐wide studies in mice and humans have produced the most definitive map to date of genomic imprinting (gene expression that depends on parental origin) by incorporating multiple tissue types and developmental stages. Here, we explore the results of these studies in light of the kinship theory of genomic imprinting, which predicts that imprinting evolves due to differential genetic relatedness between maternal and paternal relatives. The studies produce a list of imprinted genes with around 120–180 in mice and ∼100 (...) in humans. The studies agree on broad patterns across mice and humans including the complex patterns of imprinted expression at loci like Igf2 and Grb10. We discuss how the kinship theory provides a powerful framework for hypotheses that can explain these patterns. Finally, since imprinting is rare in the genome despite predictions from the kinship theory that it might be common, we discuss evolutionary factors that could favor biallelic expression. (shrink)

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

In responding to Mathias Beck's thought-provoking article, it seems helpful to begin with an outline and comments on Beck's case as I understand it. For me, this overview throws up three problematic areas that I explore further under the headings of 1. examining the New Testament evidence, 2. sin as disobedience, and 3. obedience, grace, and freedom. Clearly, the author's thoughts in all their nuances are not always adequately accessible in translation. Nevertheless, I hope that I have grasped the main (...) thread of his argument. If I am right in my interpretation then Beck still has work to do to clarify and make explicit what is not only barely implicit but what is obscured by his central theme: that obedience to God's will is the mainstay of our relationship to God. (shrink)

The New Testament, while rejecting any superficial connection between illness and sin, does not reject a possible connection between illness and a person's relationship with God. An example can be seen in the story of the young blind man who was healed (St. John 9:3). His blindness does not result from any fault he or his parents had committed but apparently from God's wish to reveal his own healing power. The inner blindness of the Pharisees is a different type of (...) blindness far more difficult to heal. The blind young man was actually healed, not only in body but also in soul. Such miraculous healings are rare nowadays. However, if one takes a closer look at modern genetics and psycho-neuroimmunological findings, one may come to a better understanding of how miracle healings are linked to man's inner life and therefore also to his religiousness. Many diseases have genetic backgrounds. Defective genes, however, do not necessarily lead to subsequent illness. Genes have to be switched on or off. Only activated genes trigger pathological change. The human brain and all of man's thinking and feeling are intimately connected with such activations. We may thus conclude that both inner life and religious outlook on life are relevant to the origin and development of diseases. (shrink)

Design: Qualitative interview study. Participants: Fifty-nine patients with a family history of cancer who attend a regional cancer genetics clinic in the UK were interviewed about their current and previous research experiences. Findings: Interviewees gave a range of explanations for research participation. These were categorised as social—research participation benefits the wider society by progressing science and improving treatment for everyone; familial—research participation may improve healthcare and benefit current or future generations of the participant’s family; and personal—research participation provides therapeutic or (...) non-therapeutic benefits for oneself. Conclusions: We discuss the distinction drawn between motives for research participation focused upon self and others, and observe that personal, social and familial motives can be seen as interdependent. For example, research participation that is undertaken to benefit others, particularly relatives, may also offer a number of personal benefits for self, such as enabling participants to feel that they have discharged their social or familial obligations. We argue for the need to move away from simple, static, individualised notions of research participation to a more complex, dynamic and inherently social account. (shrink)

Is information about a person's genome, whether derived from the analysis of DNA or otherwise, protected by the right to privacy? If it is, why and in what manner? It often appears that some people believe that the answer to this question is to be found in molecular genetics itself. They point to the rapid progress being made in basic and applied aspects of this field of biology; this progress has remarkably increased what is known about human genetics. Since knowledge (...) of a particular person's genetic makeup entails a potential intrusion into that person's most private realms and exposes him or her to dire results if revealed to others, they argue, the law needs to protect “genetic privacy.” There is nothing inherently wrong with this account, but it certainly presupposes that we know—and agree about—what it means to protect privacy and, indeed, what interests are implicated in the concept and why they matter. Rather than make this assumption, in this essay I first elaborate a concept of privacy before turning to the potential privacy implications that arise at the intersection of human genetics and the field of insurance. I argue that the core value here is self-determination broadly conceived—that control over one's genetic information may be important for achieving self-determination—but that at least in the context of contracts for life insurance, we should be reluctant to recognize “rights” that would permanently preclude the use of genetic data by insurers. (shrink)