This study adopts a heuristic technique to argue the thesis that a set of norms rooted in the African philosophy of Ubuntu can usefully supplement current research guidelines for dealing with incidental findings discovered in genomic research. The consensus regarding incidental findings is that there is an ethical obligation to return individual genetic incidental findings that meet the threshold of analytic and clinical validity, have clinical utility, and are actionable, provided that research contributors have not opted out from receiving (...) such information. This study outlines the hurdles that may hinder the integration of this consensus in mainstream clinical practice, and shows how an ethical theory from the global south may be used to address the same. This will advance the field of ethical, legal and social issues of personalized medicine by providing exposure to the under-represented African perspective on the ethical, legal, and social issues of genomics. (shrink)

This year’s topic is “Genomics and Philosophy of Race.” Different researchers might work on distinct subsets of the six thematic clusters below, which are neither mutually exclusive nor collectively exhaustive: (1) Concepts of ‘Race’; (2) Mathematical Modeling of Human History and Population Structure; (3) Data and Technologies of Human Genomics; (4) Biological Reality of Race; (5) Racialized Selves in a Global Context; (6) Pragmatic Consequences of ‘Race Talk’ among Biologists.

We welcome Blumenthal-Barby’s et al. (2022) plaidoyer for the integration of philosophy in bioethics because of a perceived mutual benefit. Drawing on experience from a collaborative project, funde...

This chapter contains section titled: Introduction Classical Molecular Biology Genomics and Post‐Genomics Proteomics Towards a Systems Biology? Philosophical Implications Conclusions: An Invitation References.

The introduction of genomics and biobanking methodologies to the African research context has also introduced novel ways of doing science, based on values of sharing and reuse of data and samples. This shift raises ethical challenges that need to be considered when research is reviewed by ethics committees, relating for instance to broad consent, the feedback of individual genetic findings, and regulation of secondary sample access and use. Yet existing ethics guidelines and regulations in Africa do not successfully regulate (...) research based on sharing, causing confusion about what is allowed, where and when. In order to understand better the ethics regulatory landscape around genomic research and biobanking, we conducted a comprehensive analysis of existing ethics guidelines, policies and other similar sources. We sourced 30 ethics regulatory documents from 22 African countries. We used software that assists with qualitative data analysis to conduct a thematic analysis of these documents. Surprisingly considering how contentious broad consent is in Africa, we found that most countries allow the use of this consent model, with its use banned in only three of the countries we investigated. In a likely response to fears about exploitation, the export of samples outside of the continent is strictly regulated, sometimes in conjunction with regulations around international collaboration. We also found that whilst an essential and critical component of ensuring ethical best practice in genomics research relates to the governance framework that accompanies sample and data sharing, this was most sparingly covered in the guidelines. There is a need for ethics guidelines in African countries to be adapted to the changing science policy landscape, which increasingly supports principles of openness, storage, sharing and secondary use. Current guidelines are not pertinent to the ethical challenges that such a new orientation raises, and therefore fail to provide accurate guidance to ethics committees and researchers. (shrink)

In 1990 the Human Genome Project (HGP) was launched as an important historical marker, a pivotal contribution to the time-old quest for human self-knowledge. However, when in 2001 two major publications heralded its completion, it seemed difficult to make out how the desire for self-knowledge had really been furthered by this endeavor (IHGSC 2001; Venter et al. 2001). In various ways mankind seems to stand out from other organisms as a unique type of living entity, developing a critical perspective on (...) its own behavior and consciously engaged in building a complex society of its own making—and therefore increasingly able to determine the conditions of its own evolution. However, this uniqueness is not easily and .. (shrink)

Mehlman and Li offer a framework for approaching the bioethical issues raised by the military use of genomics that is compellingly grounded in both the contemporary civilian and military ethics of medical research, arguing that military commanders must be bound by the two principles of paternal- ism and proportionality. I agree fully. But I argue here that this is a much higher bar than we may fully realize. Just as the principle of proportionality relies upon a thorough assessment of (...) harms caused and military advantage gained, the use of genomic research, on Mehlman and Li’s view, will require an accurate understanding of the connection between genotypes and phenotypes – accurate enough to ameliorate the risk undertaken by our armed forces in being subject to such research. Recent conceptual work in evolutionary theory and the philosophy of biology, however, renders it doubtful that such knowledge is forthcoming. The complexity of the relationship between genotypic factors and realized traits (the so-called ‘G→P map’) makes the estimation of potential military advantage, as well as potential harm to our troops, incredibly challenging. Such fundamental conceptual challenges call into question our ability to ever satisfactorily satisfy the demands of a sufficiently rigorous ethical standard. (shrink)

This paper explores the ethics of introducing genome-editing technologies as a new reproductive option. In particular, it focuses on whether genome editing can be considered a morally valuable alternative to preimplantation genetic diagnosis. Two arguments against the use of genome editing in reproduction are analysed, namely safety concerns and germline modification. These arguments are then contrasted with arguments in favour of genome editing, in particular with the argument of the child’s welfare and the argument of parental reproductive autonomy. In addition (...) to these two arguments, genome editing could be considered as a worthy alternative to PGD as it may not be subjected to some of the moral critiques moved against this technology. Even if these arguments offer sound reasons in favour of introducing genome editing as a new reproductive option, I conclude that these benefits should be balanced against other considerations. More specifically, I maintain that concerns regarding the equality of access to assisted reproduction and the allocation of scarce resources should be addressed prior to the adoption of genome editing as a new reproductive option. (shrink)

There is growing interest for a communitarian approach to the governance of genomics, and for such governance to be grounded in principles of justice, equity and solidarity. However, there is a near absence of conceptual studies on how communitarian-based principles, or values, may inform, support or guide the governance of genomics research. Given that solidarity is a key principle in Ubuntu, an African communitarian ethic and theory of justice, there is emerging interest about the extent to which Ubuntu (...) could offer guidance for the governance of genomics research in Africa. To this effect, we undertook a conceptual analysis of Ubuntu with the goal of identifying principles that could inform equity-oriented governance of genomics research. Solidarity, reciprocity, open sharing, accountability, mutual trust, deliberative decision-making and inclusivity were identified as core principles that speak directly to the different macro-level ethical issues in genomics research in Africa such as: the exploitation of study populations and African researchers, equitable access and use of genomics data, benefit sharing, the possibility of genomics to widen global health inequities and the fair distribution of resources such as intellectual property and patents. We use the identified the principles to develop ethical guidance for genomics governance in Africa. (shrink)

The field of genetics has seen major advances in recent decades, particularly in research, prevention and diagnosis. One of the most recent developments, the genomic editing technique Clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9, has opened the possibility for genetic therapies through genome modification. The technique marks an improvement on previous procedures but poses some serious ethical conflicts. Bioethics is the discipline geared at finding answers to ethical challenges posed by progress in medicine and biology and examining their repercussions for (...) society. It can also offer a conceptualization of these ethical dilemmas. The aim of this paper is to offer a map of the ethical dilemmas associated with this technique by way of a critical analysis of current literature. The main issues can be grouped in four areas: efficacy and security; the types of cells which can be targeted by the technique (somatic, embryonic and gametes); the goal of the therapy; and accessibility and justice. (shrink)

The genomics “revolution” is spreading. Originating in the molecular life sciences, it initially affected a number of biomedical research fields such as cancer genomics and clinical genetics. Now, however, a new “wave” of genomic bioinformation is transforming a widening array of disciplines, including those that address the social, historical and cultural dimensions of human life. Increasingly, bioinformation is affecting “human sciences” such as psychiatry, psychology, brain research, behavioural research (“behavioural genomics”), but also anthropology and archaeology (“bioarchaeology”). Thus, (...) bioinformatics is having an impact on how we define and understand ourselves, how identities are formed and constituted, and, finally, on how we (on the basis of these redefined identities) assess and address some of the more concrete societal issues involved in genomics governance in various settings. This article explores how genomics and bioinformation, by influencing research agendas in the human sciences and the humanities, are affecting our self-image, our identity, the way we see ourselves. The impact of bioinformation on self-understanding will be assessed on three levels: (1) the collective level (the impact of comparative genomics on our understanding of human beings as a species), (2) the individual level (the impact of behavioural genomics on our understanding of ourselves as individuals), and (3) the genealogical level (the impact of population genomics on our understanding of human history, notably early human history). This threefold impact will be assessed from two seemingly incompatible philosophical perspectives, namely a “humanistic” perspective (represented in this article by Francis Fukuyama) and a “post-humanistic” one (represented by Peter Sloterdijk). On the basis of this analysis it will be concluded that, rather than focussing on human “enhancement” by adding or deleting genes, genome-oriented practices of the Self will focus on using genomics information in the context of identity-formation. Genomic bioinformation will increasingly be built into our self-images and used in order to tailor and adapt our practices of Self to our “personalised” genome. We will keep working on ourselves, no doubt, not by modifying our genomes, but rather by fine-tuning our behaviour. What we are experiencing is a bioinformatisation of the life-world. Genomics-based technologies will increasingly pervade our daily lives, our autobiographies and narratives, as well as our anthropologies, rather than our genomes as such. (shrink)

While scientific terms lack the stability of physical objects, they are generally far more stable than the various meanings associated with them. As a consequence, they tend to carry older conceptions alongside those more recently acquired, thereby exerting an effective drag against conceptual change. I illustrate this claim with an analysis of the shifting meanings of the term genome, originally used to refer to a collectivity of genes, but more recently to an organism’s complement of DNA. While genes were originally (...) regarded as effectively autonomous formal agents, and DNA as collections of genes, contemporary research suggests that an organism’s DNA constitutes a far more complex system designed to adapt and respond to the environment in which it finds itself. (shrink)

There is ongoing controversy as to whether the genome is a representing system. Although it is widely recognised that DNA carries information, both correlating with and coding for various outcomes, neither of these implies that the genome has semantic properties like correctness or satisfaction conditions, In the Scope of Logic, Methodology, and the Philosophy of Sciences, Vol. II. Kluwer, Dordrecht, pp. 387–400). Here a modified version of teleosemantics is applied to the genome to show that it does indeed have (...) semantic properties – there is representation in the genome. The account differs in three respects from previous attempts to apply teleosemantics to genes. It emphasises the role of the consumer of representations. It rejects the standard assumption that genetic representation can be used to explain the course of an organism’s development. And it identifies the explanatory role played by representational properties of the genome. A striking consequence of this account is that other inheritance systems could also be representational. Thus, a version of the parity thesis is accepted. However, the criteria for being an inheritance system are demanding, so semantic properties are not ubiquitous. (shrink)

In this article, I argue that genomic programs are not substitutes for multi-causal molecular mechanistic explanations of inheritance, but abstract representations of the same sort as mechanism schemas already described in the philosophical literature. On this account, the program analogy is not reductionistic and does not ignore or underestimate the active contribution of epigenetic elements to phenotypes and development. Rather, genomic program representations specifically highlight the genomic determinants of inheritance and their organizational features at work in the wider context of (...) the mechanisms of genome expression. (shrink)

Since the late 1990s, the characterization of complete DNA sequences for a large and taxonomically diverse set of species has continued to gain in speed and accuracy. Sequence analyses have indicated a strikingly baroque structure for most eukaryotic genomes, with multiple repeats of DNA sequences and with very little of the DNA specifying proteins. Much of the DNA in these genomes has no known function. These results have generated strong interest in the factors that govern the evolution of genome architecture. (...) While adaptationist ‘just so’ stories have been offered, recent theoretical analyses based on mathematical population genetics strongly suggest that non-adaptive processes dominate genome architecture evolution. This article critically synthesizes and develops these arguments, explicating a core argument along with several variants. It provides a critical assessment of the evidence that supports these arguments’ premises. It also analyses adaptationist responses to these arguments and notes potential problems with the core argument. These theoretical analyses continue the molecular reinterpretation of evolution initiated by the neutral theory in 1968. The article ends by noting that some of these arguments can also be extended to evolution at higher levels of organization which raises questions about adaptationism in general. This remains a puzzle because there is probably little reason to doubt that many organismic features are genuine adaptations. 1 Introduction2 Preliminaries: Senses of Adaptationism3 Genome Architecture3.1 Surprises of early eukaryotic genetics3.2 Genome structure, post-20014 The Case against Adaptationism4.1 Just so stories versus population genetics4.2 The core argument4.3 Three variants of the core argument4.4 Examples: Non-adaptive features of the genome5 Adaptationist Responses6 Concluding Remarks. (shrink)

The variation in genome size and basic chromosome number was analyzed in the wide range of angiosperm plants. A divergence of monocots vs. dicots (eudicots) genome size distributions was revealed. A similar divergence was found for annual vs. perennial dicots. The divergence of monocots vs. dicots genome size distributions holds at different taxonomic levels and is more pronounced for species with larger genomes. Using nested analysis of variance, it was shown that putative constraints on genome size variation are not only (...) stronger in dicots as compared to monocots but in the former they start to operate already at the family level, whereas in the latter they do so only at the order level. At the same time, variation in basic chromosome number is constrained at the order level in both groups. Higher basic chromosome numbers were found in perennial plants as compared to the annual ones, which can be explained by their need for a higher genetic recombination as compensation for the longer life-cycles. A negative correlation was found between genome size and basic chromosome number, which can be explained as a trade-off between different recombination mechanisms. (shrink)

Natural genome editing from a biocommunicative perspective is the competent agent-driven generation and integration of meaningful nucleotide sequences into pre-existing genomic content arrangements, and the ability to (re-)combine and (re-)regulate them according to context-dependent (i.e. adaptational) purposes of the host organism. Natural genome editing integrates both natural editing of genetic code and epigenetic marking that determines genetic reading patterns. As agents that edit genetic code and epigenetically mark genomic structures, viral and subviral agents have been suggested because they may be (...) evolutionarily older than cellular life. This hypothesis that viruses and viral-like agents edit genetic code is developed according to three well investigated examples that represent key evolutionary inventions in which non-lytic viral swarms act symbiotically in a persistent lifestyle within cellular host genomes: origin of eukaryotic nucleus, adaptive immunity, placental mammals. Additionally an abundance of various RNA elements cooperate in a variety of steps and substeps as regulatory and catalytic units with multiple competencies to act on the genetic code. Most of these RNA agents such as transposons, retroposons and small non-coding RNAs act consortially and are remnants of persistent viral infections that now act as co-opted adaptations in cellular key processes. (shrink)

It is becoming increasingly evident that the driving forces of evolutionary novelty are not randomly derived chance mutations of the genetic text, but a precise genome editing by omnipresent viral agents. These competences integrate the whole toolbox of natural genetic engineering, replication, transcription, translation, genomic imprinting, genomic creativity, enzymatic inventions and all types of genetic repair patterns. Even the non-coding, repetitive DNA sequences which were interpreted as being ancient remnants of former evolutionary stages are now recognized as being of viral (...) descent and crucial for higher-order regulatory and constitutional functions of protein structural vocabulary. In this article I argue that non-randomly derived natural genome editing can be envisioned as (a) combinatorial (syntactic), (b) context-specific (pragmatic) and (c) content-sensitive (semantic) competences of viral agents. These three-leveled biosemiotic competences could explain the emergence of complex new phenotypes in single evolutionary events. After short descriptions of the non-coding regulatory networks, major viral life strategies and pre-cellular viral life three of the major steps in evolution serve as examples: There is growing evidence that natural genome-editing competences of viruses are essential (1) for the evolution of the eukaryotic nucleus, (2) the adaptive immune system and (3) the placental mammals. (shrink)

Biologists are nearing the creation of the first fully synthetic eukaryotic genome. Does this mean that we still soon be able to create genomes that are parts of an existing genetic lineage? If so, it might be possible to bring back extinct species. But do genomes that are synthetically assembled, no matter how similar they are to native genomes, really belong to the genetic lineage on which they were modelled? This article will argue that they are situated within the same (...) genetic lineage. To see why requires closely examining whether material overlap between parents and offspring is a necessary feature of biological reproduction. The processes used to create synthetic genomes shows that these processes are a form of scaffolded reproduction because they use external machinery and take ownership of the material parts used to create synthetic genomes. Closely examining these processes also reveals, surprisingly, that ‘synthetic reproduction’ can take place between entities that don’t participate in the same biological lineages. 1Introduction2The Argument for Lineage-less Genomes3Synthetic Eukaryotic Chromosomes and Material Overlap4Biological Reproduction, Material, and Information5Synthetic Reproductive Processes and Their Implications. (shrink)

New concepts may prove necessary to profit from the avalanche of sequence data on the genome, transcriptome, proteome and interactome and to relate this information to cell physiology. Here, we focus on the concept of large activity-based structures, or hyperstructures, in which a variety of types of molecules are brought together to perform a function. We review the evidence for the existence of hyperstructures responsible for the initiation of DNA replication, the sequestration of newly replicated origins of replication, cell division (...) and for metabolism. The processes responsible for hyperstructure formation include changes in enzyme affinities due to metabolite-induction, lipid-protein affinities, elevated local concentrations of proteins and their binding sites on DNA and RNA, and transertion. Experimental techniques exist that can be used to study hyperstructures and we review some of the ones less familiar to biologists. Finally, we speculate on how a variety of in silico approaches involving cellular automata and multi-agent systems could be combined to develop new concepts in the form of an Integrated cell (I-cell) which would undergo selection for growth and survival in a world of artificial microbiology. (shrink)

In various documents the view emerges that contemporary biotechnosciences are currently experiencing a scientific revolution: a massive increase of pace, scale and scope. A significant part of the research endeavours involved in this scientific upheaval is devoted to understanding and, if possible, ameliorating humankind: from our genomes up to our bodies and brains. New developments in contemporary technosciences, such as synthetic biology and other genomics and “post-genomics” fields, tend to blur the distinctions between prevention, therapy and enhancement. An (...) important dimension of this development is “biomimesis”: i.e. the tendency of novel technologies and materials to mimic or plagiarize nature on a molecular and microscopic level in order to optimise prospects for the embedding of technological artefacts in natural systems such as human bodies and brains. In this paper, these developments are read and assessed from a psychoanalytical perspective. Three key concepts from psychoanalysis are used to come to terms with what is happening in research laboratories today. After assessing the general profile of the current revolution in this manner, I will focus on a particular case study, a line of research that may serve as exemplification of the vicissitudes of contemporary technosciences, namely viral biomaterials. Viral life forms can be genetically modified (their genomes can be rewritten) in such a manner that they may be inserted in human bodies in order to produce substances at specific sites such as hormones (testosterone), neurotransmitters (dopamine), enzymes (insulin) or bone and muscle tissue. Notably, certain target groups such as top athletes, soldiers or patients suffering from degenerative diseases may become the pioneers serving as research subjects for novel applications. The same technologies can be used for various purposes ranging from therapy up to prevention and enhancement. (shrink)

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. (shrink)

In the mid-1990s, the company Human Genome Sciences submitted three potentially revolutionary patent applications to the US Patent and Trademark Office, each of which claimed the entire genome sequence of a microorganism. The patent examiners, however, objected to these applications, and after negotiation they were eventually re-written to resemble more traditional gene patents. In this paper, which is based on a study of the patent examination files, we examine the reasons why these patent applications were unsuccessful in their original form. (...) We show that with respect to utility and novelty, the patent attorney’s case built on an understanding of the genome as a computer-related invention. The patent examiners did not object to the patenting of complete genome sequences as computer-related inventions on moral grounds or in terms of the distinction between a discovery and an invention. Instead, their objections were based on classification, rules and procedure. Rather than patent examiners having a notion of a genome that should not be patented, the notion of a ‘genome’, and the ways in which it may be different from a ‘gene’, played no role in these debates. We discuss the consequences of our findings for patenting in the biosciences. (shrink)

Many areas of genetic research, genetic forensics and genetic essentialism are treated in public sphere debate as suspicious and problematic or are subject to waves of moral panic. In cultural theory, likewise, strong critiques of the genetic essentialism emerge as part of a broader critical assessment of the discourses of the biological sciences and the assertion of a connection between genes and human behavior. However, the scientific and popular claim to the existence of a “gay gene” is not treated in (...) the same way, and has been widely celebrated both within lesbian/gay culture and more broadly in liberal-humanist speech. This essay suggests that it is not enough to presume that this is a result of the extension of essentialism into new popular understandings of human biology. Rather, this essay examines five reasons which have made the popular acceptance of a “gay gene” tenable: the dominance of “gay personage” arguments, the continued influence of early sexology, the suspicion of psychological and constructionist approaches to lesbian/gay sexualities, the effectiveness of genetic essentialism in“ethnic rights” political approaches and the continued centrality of “fixed subjecthood” in contemporary western culture. (shrink)

Popular and scientific accounts of the U.S. Human Genome Project often express concern about the implications of the project for the philosophic question of free will and responsibility. However, on its standard construal within philosophy, the question of free will versus determinism poses no special problems in relation to genetic research. The paper identifies a variant version of the free will question, free will versus internal constraint, that might well pose a threat to notions of individual autonomy and virtue (...) in connection with genetic research. Whether it does depends on the extent to which the genetic basis for behavior turns on behavioral incapacities. (shrink)

The reported birth of genetically modified twins in late 2018 has given new fuel to debates about the ethics of germline genome editing (GGE). There is a broad consensus among stakeholders that clinical uses of GGE should be temporarily banned as the technology is not yet deemed safe for use in humans. However, the idea of a complete ban is dismissed by many based on the expectation that more research will eventually allow scientists to make the technology safe without having (...) to put humans at risk first. In this article, I will analyse this assumption and argue that it is undermined by recent developments in the postgenomic life sciences. In particular, I will argue that in a postgenomic view of germline editing a complete ban on specific uses of the technology is warranted, because the research needed to assess the safety of these interventions would not be morally defensible. (shrink)

Following the Second Summit on Human Gene Editing in Hong Kong in 2018, where the birth of two girls with germline genome editing was revealed, the need for a responsible pathway to the clinical application of human germline genome editing has been repeatedly emphasised. This paper aims to contribute to the ongoing discussion on research ethics issues in germline genome editing by exploring key issues related to the initial applications of CRISPR in reproductive medicine. Following an overview of the current (...) discussion on bringing germline genome editing into clinical practice, we outline the specific challenges associated with such interventions and the features that distinguish them from conventional clinical testing of new medical treatments. We then review proposed ethical requirements for initial heritable genome editing, such as the absence of reasonable alternatives, the existence of sufficient and reliable preclinical data, appropriate informed consent, requirements related to safety, and long-term follow-up. (shrink)

This paper describes, analyzes, and critiques the construction of separate “male” and “female” genomes in current human genome research. Comparative genomic work on human sex differences conceives of the sexes as like different species, with different genomes. I argue that this construct is empirically unsound, distortive to research, and ethically questionable. I propose a conceptual model of biological sex that clarifies the distinction between species and sexes as genetic classes. The dynamic interdependence of the sexes makes them “dyadic kinds” that (...) are not like species, which are “individual kinds.” The concept of sex as a “dyadic kind” may be fruitful as a remedy to the tendency to conceive of the sexes as distinct, binary classes in biological research on sex more generally. (shrink)

Frequent lateral genetic transfer undermines the existence of a unique “tree of life” that relates all organisms. Vertical inheritance is nonetheless of vital interest in the study of microbial evolution, and knowing the “tree of cells” can yield insights into ecological continuity, the rates of change of different cellular characters, and the evolutionary plasticity of genomes. Notwithstanding within-species recombination, the relationships most frequently recovered from genomic data at shallow to moderate taxonomic depths are likely to reflect cellular inheritance. At the (...) same time, it is clear that several types of ‘average signals’ from whole genomes can be highly misleading, and the existence of a central tendency must not be taken as prima facie evidence of vertical descent. Phylogenetic networks offer an attractive solution, since they can be formulated in ways that mitigate the misleading aspects of hybrid evolutionary signals in genomes. But the connections in a network typically show genetic relatedness without distinguishing between vertical and lateral inheritance of genetic material. The solution may lie in a compromise between strict tree-thinking and network paradigms: build a phylogenetic network, but identify the set of connections in the network that are potentially due to vertical descent. Even if a single tree cannot be unambiguously identified, choosing a subnetwork of putative vertical connections can still lead to drastic reductions in the set of candidate vertical hypotheses. (shrink)

The discovery and ongoing investigation of microRNAs suggest important conceptual and methodological lessons for philosophers and historians of biology. This paper provides an account of miRNA research and the shift from viewing these tiny regulatory entities as minor curiosities to seeing them as major players in the post-transcriptional regulation of genes. Conceptually, the study of miRNAs is part of a broader change in understandings of genetic regulation, in which simple switch-like mechanisms were reinterpreted as aspects of complex cellular and genome-wide (...) processes. Among them are the activities of small RNAs, previously regarded as non-functional. Methodologically, the miRNA story suggests new ways of characterizing biological research that should prove helpful to philosophers of science who seek to develop more pluralistic, pragmatic models of scientific inquiry. miRNA research displays iterative movements between multiple modes of investigation that include not only the proposal and testing of hypotheses but also exploratory, technology-oriented and question-driven modes of research. As an exemplary story of scientific discovery and development, the miRNA case illustrates transitions from genetics to genomics and systems biology, and it shows how diverse configurations of research practice are related to major scientific advances. (shrink)

According to the proponents of Developmental Systems Theory and the Causal Parity Thesis, the privileging of the genome as “first among equals” with respect to the development of phenotypic traits is more a reflection of our own heuristic prejudice than of ontology - the underlying causal structures responsible for that specified development no more single out the genome as primary than they do other broadly “environmental” factors. Parting with the methodology of the popular responses to the Thesis, this paper offers (...) a novel criterion for ‘causal primacy’, one that is grounded in the ontology of the unique causal role of dispositional properties. This paper argues that, if the genome is conceptualised as realising dispositional properties that are “directed toward” phenotypic traits, the parity of ‘causal roles’ between genetic and extra-genetic factors is no longer apparent, and further, that the causal primacy of the genome is both plausible and defensible. (shrink)

In a recent public engagement study on heritable human genome editing (HHGE) conducted among South Africans, participants approved of using HHGE for serious health conditions—viewing it as a means of bringing about valuable social goods—and proposed that the government should actively invest resources to ensure everyone has equal access to the technology for these purposes. This position was animated by the view that future generations have a claim to these social goods, and this entitlement justified making HHGE available in the (...) present. This claim can be ethically justified in the Ubuntu ethic (deriving from South Africa) as it (a) emphasizes the interests of the community, and (b) espouses a metaphysical conception of the community that transcends the present generation and includes past and future generations. On this basis, a compelling claim can be made on behalf of prospective persons in favor of equal access to HHGE. (shrink)

Analysis of two key ways of characterizing genes—as causes of phenotypic effects and as genomic DNA sequences—has yielded widespread pessimism that they can be united in a coherent gene concept. This raises important questions about the epistemology of genomic research: If analysis of a genome sequence cannot yield information about genes defined both in terms of their products and their DNA sequence, then what could we learn from it? I investigate basic tools of genomic analysis, argue that they do not (...) reflect the application of either gene concept, and clarify how we learn from genomic research. (shrink)

Implicit God-like and ghost-in-the-machine metaphors underlie much current thinking about genomes. Although many criticisms of such views exist, none have succeeded in substituting a different, widely accepted view. Viewing the genome with its protein packaging as a brain gets rid of Gods and ghosts while plausibly integrating machine and information-based views. While the ‘wetware’ of brains and genomes are very different, many fundamental principles of how they function are similar. Eukaryotic cells are compound entities in which case the nuclear genome (...) might best be thought of more as a government than simply as a brain. (shrink)

BackgroundWhile genomic data sharing can facilitate important health research and discovery benefits, these must be balanced against potential privacy risks and harms to individuals. Understanding public attitudes and perspectives on data sharing is important given these potential risks and to inform genomic research and policy that aligns with public preferences and needs.MethodsA cross sectional online survey measured attitudes towards genomic data sharing among members of the general public in an Eastern Canadian province.ResultsResults showed a moderate comfort level with sharing genomic (...) data, usually into restricted scientific databases with controlled access. Much lower comfort levels were observed for sharing data into open or publicly accessible databases. While respondents largely approved of sharing genomic data for health research permitted by a research ethics board, many general public members were concerned with who would have access to their data, with higher rates of approval for access from clinical or academic actors, but much more limited approval of access from commercial entities or governments. Prior knowledge about sequencing and about research ethics boards were both related to data sharing attitudes.ConclusionsWith evolving regulations and guidelines for genomics research and data sharing, it is important to consider the perspectives of participants most impacted by these changes. Participant information materials and informed consent documents must be explicit about the safeguards in place to protect genomic data and the policies governing the sharing of data. Increased public awareness of the role of research ethics boards and of the need for genomic data sharing more broadly is also needed. (shrink)

John Harsanyi and John Rawls both used the veil of ignorance thought experiment to study the problem of choosing between alternative social arrangements. With his ‘impartial observer theorem’, Harsanyi tried to show that the veil of ignorance argument leads inevitably to utilitarianism, an argument criticized by Sen, Weymark and others. A quite different use of the veil-of-ignorance concept is found in evolutionary biology. In the cell-division process called meiosis, in which sexually reproducing organisms produce gametes, the chromosome number is halved; (...) when meiosis is fair, each gene has only a fifty percent chance of making it into any gamete. This creates a Mendelian veil of ignorance, which has the effect of aligning the interests of all the genes in an organism. This paper shows how Harsanyi's version of the veil-of-ignorance argument can shed light on Mendelian genetics. There turns out to be an intriguing biological analogue of the impartial observer theorem that is immune from the Sen/Weymark objections to Harsanyi's original. View HTML Send article to KindleTo send this article to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle. Find out more about sending to your Kindle. Note you can select to send to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply. Find out more about the Kindle Personal Document Service.SOCIAL JUSTICE, GENOMIC JUSTICE AND THE VEIL OF IGNORANCE: HARSANYI MEETS MENDELVolume 28, Issue 1Samir Okasha DOI: https://doi.org/10.1017/S0266267112000119Your Kindle email address Please provide your Kindle [email protected]@kindle.com Available formats PDF Please select a format to send. By using this service, you agree that you will only keep articles for personal use, and will not openly distribute them via Dropbox, Google Drive or other file sharing services. Please confirm that you accept the terms of use. Cancel Send ×Send article to Dropbox To send this article to your Dropbox account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about sending content to Dropbox. SOCIAL JUSTICE, GENOMIC JUSTICE AND THE VEIL OF IGNORANCE: HARSANYI MEETS MENDELVolume 28, Issue 1Samir Okasha DOI: https://doi.org/10.1017/S0266267112000119Available formats PDF Please select a format to send. By using this service, you agree that you will only keep articles for personal use, and will not openly distribute them via Dropbox, Google Drive or other file sharing services. Please confirm that you accept the terms of use. Cancel Send ×Send article to Google Drive To send this article to your Google Drive account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about sending content to Google Drive. SOCIAL JUSTICE, GENOMIC JUSTICE AND THE VEIL OF IGNORANCE: HARSANYI MEETS MENDELVolume 28, Issue 1Samir Okasha DOI: https://doi.org/10.1017/S0266267112000119Available formats PDF Please select a format to send. By using this service, you agree that you will only keep articles for personal use, and will not openly distribute them via Dropbox, Google Drive or other file sharing services. Please confirm that you accept the terms of use. Cancel Send ×Export citation Request permission. (shrink)

ABSTRACT Dealing primarily with implications rather than foundations, and focusing downstream at the expense of upstream prevention, mainstream bioethics is at a toxic watershed. Through an extended analysis of the Environmental Genome Project (EGP), we offer new tools from the philosophy of science and from critical epidemiology to help bioethics to move ahead. Our aim in this paper is not to resolve the moral and conceptual problems we reveal, but rather to outline ways to prevent such problems from arising (...) in future research. (shrink)

If a transformation in medicine occurs in the wake of the Human Genome Project, its likely focus will be prevention, a logical extension of the lessons of variation and individuality inherent in molecular genetics. The transformation of medicine will require a transformation in genetics education as well, focusing on the development of genetic literacy that allows patient and provider to collaborate as partners in health promotion and disease prevention. The components of genetic literacy include new views of genetics and of (...) disease, and attention to the nature of science, the principles of technology, and ethical, legal, and social implications of genetic medicine. (shrink)

Abstract.Evolutionary psychology and behavioural genomics are both approaches to explain human behaviour from a genetic point of view. Nonetheless, thus far the development of these disciplines is anything but interdependent. This paper examines the question whether evolutionary psychology can contribute to behavioural genomics. Firstly, a possible inconsistency between the two approaches is reviewed, viz. that evolutionary psychology focuses on the universal human nature and disregards the genetic variation studied by behavioural genomics. Secondly, we will discuss the structure (...) of biological explanations. Some philosophers rightly acknowledge that explanations do not involve laws which are exceptionless and universal. Instead, generalisations that are invariant suffice for successful explanation as long as two other stipulations are recognised: the domain within which the generalisation has no exceptions as well as the distribution of the mechanism described by the generalisation should both be specified. It is argued that evolutionary psychology can contribute to behavioural genomic explanations by accounting for these two specifications. (shrink)

Issues about communication in genomics have moved out of the clinic and into the public arena. Scientists other than clinicians are confronted by calls for public engagement. Genomics gives rise to these demands partly because it inevitably raises the three basic questions of philosophy as outlined by Kant: What can I know? What ought I to do? What may I hope? Genomics on its own cannot answer these questions. In relation to what can be known, its (...) answer is at best partial. Nor can the ought question be settled by science. In fact, science is criticized for reducing options while claiming to be neutral in the pursuit of knowledge. The answer to the ought question is crucially related to the hope question in so far as this deals with issues about the point of human life generally. The role of public engagement in relation to all these questions may have different objectives. It is argued that there is more of a place for it in relation to the hope question than is commonly recognized, and in particular with regard to the role of science, which could benefit from developing a service ideal in the sense found in discussions of professional ethics. (shrink)

In the debate regarding the different possibilities for gene therapy, it is presupposed that the manipulations are limited to the nuclear genome (nDNA). Given recent advances in genetics, mitochondrial genome (mtDNA) and diseases must be considered as well. In this paper, we propose a three dimensional framework for the ethical debate of gene therapy where we add the genomic type (nDNA vs. mtDNA) as a third dimension to be considered beside the paradigmatic dimensions of target cell (somatic vs. germ-line) and (...) purpose (therapeutic vs. enhancement). Somatic gene therapy can be viewed today as generally accepted, and we review t he contemporary arguments surrounding it on the basis of bioethical-pragmatic, socio-political and deontological classifications. Many of the supposed ethical questions of somatic gene therapy today are not new; they are well-known issues of research ethics. We also critically summarize the different international perspectives and the German ethical discussion regarding manipulations of germ-line cells. (shrink)

First uniform description of all key levels of communication in the organismic kingdoms of plants, fungi, animals (bees and corals), bacteria and additionally the natural genome editing competences of viruses based on the most recent empirical data. The biocommunicative approach presented is based on the results of the philosophy of science discourse concerning coherent definitions of 'language' and 'communication'.