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)

In 1876, Brazilian physical anthropologists De Lacerda and Peixoto published findings of detailed anatomical and osteometric investigation of the new human skull collection of Rio de Janeiro’s Museu Nacional. They argued not only that the Indigenous ‘Botocudo’ in Brazil might be autochthonous to the New World, but also that they shared analogic proximity to other geographically very distant human groups – the New Caledonians and Australians – equally attributed limited cranial capacity and resultant inferior intellect. Described by Blumenbach and Morton, (...) ‘Botocudo’ skulls were highly valued scientific specimens in 19th-century physical anthropology. A recent genomic study has again related ‘the Botocudo’ to Indigenous populations from the other side of the world by identifying ‘Polynesian ancestry’ in two of 14 Botocudo skulls held at the Museu Nacional. This article places the production of scientific knowledge in multidisciplinary, multiregional historical perspectives. We contextualize modern narratives in the biological sciences relating ‘Botocudo’ skulls and other cranial material from lowland South America to Polynesia, Melanesia, and Australia. With disturbing irony, such studies often unthinkingly reinscribe essentialized historic racial categories such as ‘the Botocudos’, ‘the Polynesians’, and ‘the Australo-Melanesians’. We conclude that the fertile alliance of intersecting sciences that is revolutionizing understandings of deep human pasts must be informed by sensitivity to the deep histories of terms, classification schemes, and the disciplines themselves. (shrink)

In “Human germline genome editing: On the nature of our reasons to genome edit,” Robert Sparrow (2022) presents a central claim and a secondary one. The central claim is that, for the foreseeable f...

Significant advancements towards a future of big data genomic medicine, associated with large-scale public dataset repositories, intensify dilemmas of genomic privacy. To resolve dilemmas adequately, we need to understand the relative force of the competing considerations that make them up. Attitudes towards genomic privacy are complex and not well understood; understanding is further complicated by the vague claim of ‘genetic exceptionalism’. In this paper, we distinguish between consequentialist and non-consequentialist privacy interests: while the former are concerned with (...) harms secondary to exposure, the latter represent the interest in a private sphere for its own sake, as an essential component of human dignity. Empirical studies of attitudes towards genomic privacy have almost never targeted specifically this important dignitary component of the privacy interest. In this paper we first articulate the question of a non-consequentialist genomic privacy interest, and then present results of an empirical study that probed people’s attitudes towards that interest. This was done via comparison to other non-consequentialist privacy interests, which are more tangible and can be more easily assessed. Our results indicate that the non-consequentialist genomic privacy interest is rather weak. This insight can assist in adjudicating dilemmas involving genomic privacy. (shrink)

The advantages and risks of a number of new genome modifying procedures seeking to create healthy or enhanced individuals, such as Maternal Spindle Transfer, Pronuclear Transfer, Cytoplasmic Transfer and Genome Editing, are currently being assessed from an ethical perspective, by national and international policy organizations. One important aspect being examined concerns the effects of these procedures on different kinds of identity. In other words, whether or not a procedure only modifies the qualities or properties of an existing human being, (...) meaning that merely the qualitative identity of this single individual is affected, or whether a procedure results in the creation of a new individual, meaning that a numerically distinct human being would have come into existence. In this article, the different identity arguments proposed, so far, are presented with respect to these novel reproductive procedures. An alternative view is then developed using the Origin Essentialism argument to indicate that any cha... (shrink)

In this commentary paper, we are taking one step further in questioning the central assumptions in the bioethical debates about reproductive technologies. We argue that the very distinction between “person affecting” and “identity affecting” interventions is based on a questionable form of material-origin essentialism. Questioning of this form of essentialist approach to human identity allows treating genome editing and genetic selection as more similar than they are taken to be in the standard approaches. It would also challenge the (...) idea that normative reasons we have in these two types of cases markedly differ in strength. (shrink)

Is a theory of identity necessary for bioethics? In this paper I investigate that question starting from an empirical explication of identity based on post-genomics, in particular on epigenetics. After analysing whether the classic problems a theory of identity has to cope with also affect the proposed epigenetic account of identity, I deal with three topics to offer an insight on the relationship between that account and bioethics.

Is a theory of identity necessary for bioethics? In this paper I investigate that question starting from an empirical explication of identity based on post-genomics, in particular on epigenetics. After analysing whether the classic problems a theory of identity has to cope with also affect the proposed epigenetic account of identity, I deal with three topics to offer an insight on the relationship between that account and bioethics.

What is the impact of genetics and genomics on issues of identity and what do we mean when we speak of identity? This paper explores how certain concepts of identity used in philosophy can be brought together in a multi-layered concept of identity. It discusses the concepts of numerical, qualitative, personal and genetic identity-over-time as well as rival concepts of genomic identity-over-time. These are all understood as layers in the multi-layered concept of (...) class='Hi'>identity. Furthermore, the paper makes it clear that our understanding of genomic identity and the importance attached to genomic sameness-over-time matters for the ethical questions raised by certain new gene technologies. (shrink)

Would direct genetic modification of human embryos affect the welfare of future persons? Sparrow’s approach to answering this question fails a core goal of bioethics: to generate perspectives capab...

CRISPR is widely considered to be a disruptive technology. However, when it comes to the most controversial topic, germline genome editing (GGE), there is no consensus on whether this technology has any substantial advantages over existing procedures such as embryo selection after in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD). Answering this question, however, is crucial for evaluating whether the pursuit of further research and development on GGE is justified. This paper explores the question from both a clinical and (...) a moral viewpoint, namely whether GGE has any advantages over existing technologies of selective reproduction and whether GGE could complement or even replace them. In a first step, I review an argument of extended applicability. The paper confirms that there are some scenarios in which only germline intervention allows couples to have (biologically related) healthy offspring, because selection will not avoid disease. In a second step, I examine possible moral arguments in favour of genetic modification, namely that GGE could save some embryos and that GGE would provide certain benefits for a future person that PGD does not. Both arguments for GGE have limitations. With regard to the extended applicability of GGE, however, a weak case in favour of GGE should still be made. (shrink)

Karen-Sue Taussig: Ordinary Genomes: Science, Citizenship and Genetic Identities Content Type Journal Article Category Book Review Pages 1-4 DOI 10.1007/s10441-012-9150-8 Authors Sabina Leonelli, Department of Sociology and Philosophy, ESRC Centre for Genomics in Society, University of Exeter, Exeter, Devon, UK Journal Acta Biotheoretica Online ISSN 1572-8358 Print ISSN 0001-5342.

This is a review essay of two books published in 2021 on the history of human heredity-genetics/genomics investigations—in the Middle East. Both books are structured comparatively. Both books grapple with the many uses of biology in nationalizing projects in the Middle East and the unavoidable tension between these particularizing projects and the scientific claim of biology to universality. Furthermore, both grapple with issues of classifications of humans and their uses in biology: the presumably biological human classifications of race, ethnos, and (...) ancestry, and the properly sociocultural ones, such as historical-traditional, by language, by religion. Combined, the two books offer a keen gaze on the complex entwinement of genetics and nationalism in the Middle East from WWI to the present. (shrink)

Cis‐regulatory elements govern gene expression programs to determine cell identity during development. Recently, the possibility that multiple enhancers are orchestrated in clusters of enhancers has been suggested. How these elements are arranged in the 3D space to control the activation of a specific promoter remains unclear. Our recent work revealed that the TGFβ pathway drives the assembly of enhancer clusters and precise gene activation during neurogenesis. We discovered that the TGFβ pathway coactivator JMJD3 was essential in maintaining these structures (...) in the 3D space. To do that, JMJD3 required an intrinsically disordered region involved in forming phase‐separated biomolecular condensates found in the enhancer clusters. Our data support the existence of a relationship between 3D‐conformation of the chromatin, biomolecular condensates, and TGFβ‐driven response during mammalian neurogenesis. In this review, we discuss how signaling (TGFβ), epigenetics (JMJD3), and biochemical properties (biomolecular condensates nucleation) are coordinated to modulate the genome structure to guarantee proper neural development. Moreover, we comment on the potential underlying mechanisms and implications of the enhancer‐mediated regulation. Finally, we point out the knowledge gaps that still need to be addressed. (shrink)

Recent systematic studies using newly developed genomic approaches have revealed common mechanisms and principles that underpin the spatial organization of eukaryotic genomes and allow them to respond and adapt to diverse functional demands. Genomes harbor, interpret, and propagate genetic and epigenetic information, and the three‐dimensional (3D) organization of genomes in the nucleus should be intrinsically linked to their biological functions. However, our understanding of the mechanisms underlying both the topological organization of genomes and the various nuclear processes is still (...) largely incomplete. In this essay, we focus on the functional relevance as well as the biophysical properties of common organizational themes in genomes (e.g. looping, clustering, compartmentalization, and dynamics), and examine the interconnection between genome structure and function from this angle. Present evidence supports the idea that, in general, genome architecture reflects and influences genome function, and is relatively stable. However, the answer as to whether genome architecture is a hallmark of cell identity remains elusive. (shrink)

Human heritable genome editing (HHGE) involves editing the genes of human gametes and/or early human embryos. Whilst ‘identity’ is a key concept underpinning the current HHGE debate, there is a lack of inclusive analysis on different concepts of ‘identity’ which renders the overall debate confusing at times. This paper first contributes to reviewing the existing literature by consolidating how ‘identity’ has been discussed in the HHGE debate. Essentially, the discussion will reveal an ontological and empirical understanding of (...) identity when different types of identity are involved. Here, I discuss genetic, numerical, qualitative and narrative and how each of them is relevant in the HHGE context. Secondly, given the different types of identity, the paper explores how we could navigate these different interpretations of identity in a way that promotes an inclusive and informed discussion between primary stakeholders and the general public in the HHGE debate. Here, I argue for and refine a multi-faceted concept of identity as a suitable framework for discussing the ethical and societal implications of HHGE because it not only could integrate different understandings of identity but also highlight the interconnectedness between these different understandings. (shrink)

Deriving ethical conclusions from arguments that rely heavily on metaphysical foundations, as Parfit (1984) does in generating his Nonidentity Problem, is an approach fraught with problems. Sparrow...

This paper explores the intersections between national identity and the production of medical/population genomics in Mexico. The ongoing efforts to construct a Haplotype Map of Mexican genetic diversity offers a unique opportunity to illustrate and analyze the exchange between the historic-political narratives of nationalism, and the material culture of genomic science. Haplotypes are central actants in the search for medically significant SNP’s (single nucleotide polymorphisms), as well as powerful entities involved in the delimitation of ancestry, temporality and variability (...) ( www.hapmap.org ). By following the circulation of Haplotypes, light is shed on the alignments and discordances between socio-historical and bio-molecular mappings. The analysis is centred on the comparison between the genomic construction of time and ethnicity in the laboratory (through participant observation), and on the public mobilisation of a “Mexican Genome” and its wider political implications. Even though both: the scientific practice and the public discourse on medical/population genomics are traversed by notions of “admixture”, there are important distinctions to be made. In the public realm, the nationalist post-revolutionary ideas of Jose Vasconcelos, as expressed in his Cosmic Race ( 1925 ), still hold sway in the social imaginary. In contrast, admixture is treated as a complex, relative and probabilistic notion in laboratory practices. I argue that the relation between medical/population genomics and national identity is better understood as a process of re-articulation (Fullwiley Social Studies of Science 38:695, 2008 ), rather than coproduction (Reardon 2005 ) of social and natural orders. The evolving process of re-articulation conceals the novelty of medical/population genomics, aligning scientific facts in order to fit the temporal and ethnic grids of “Mestizaje”. But it is precisely the social and political work, that matches the emerging field of population genomics to the pre-existing projects of national identity, what is most revealing in order to understand the multiple and even subtle ways in which population genomics challenges the historical and identitarian frames of a “Mestizo” nation. (shrink)

The phenomenal proliferation of scientific studies into the nature of induced pluripotent stem (iPS) cells following publication of the findings of Takahashi and Yamanaka little more than 2 years ago, have significantly expanded our understanding of cellular mechanisms relating to cell lineage, differentiation, and proliferation. While the full potential of iPS cell lineages for both scientific tool and therapeutic applications is as yet unclear, findings from several lines of investigation suggests that multipotential and terminally differentiated cells from an array of (...) cell types are competent to undergo epigenetic reprogramming to a pluripotential state. The nature of this pluripotential state appears to be similar to, but not identical with that previously described for embryonic stem (ES) cells. Understanding the nature of this induced reprogrammed state will be critical to determining the full potential of iPS cells. Recently, this issue has been examined through an integrated analysis of the genome in fully and partially reprogrammed iPS cell lineages. These results provide a window onto the temporal components of reprogramming and suggest mechanisms by which the efficacy of reprogramming can be enhanced. (shrink)

Two problems related to the biological identity of living beings are faced: the who-problem (which are the biological properties making that living being unique and different from the others?); the persistence-problem (what does it take for a living being to persist from a time to another?). They are discussed inside a molecular biology framework, which shows how epigenetics can be a good ground to provide plausible answers. That is, we propose an empirical solution to the who-problem and to the (...) persistence-problem on the basis of the new perspectives opened by a molecular understanding of epigenetic processes. In particular, concerning the former, we argue that any living being is the result of the epigenetic processes that have regulated the expression of its genome; concerning the latter, we defend the idea that the criterion for the persistence of its identity is to be indicated in the continuity of those epigenetic processes. We also counteract possible objections, in particular (1) whether our approach has something to say at a metaphysical level; (2) how it could account for the passage from the two phenotypes of the parental gametes to the single phenotype of the zygote; (3) how it could account for the identity of derivatives of one living being that continue to live disjoined from that original living being; (4) how it could account for higher mental functions. (shrink)

Contemporary biological research has suggested that some host–microbiome multispecies systems (referred to as “holobionts”) can in certain circumstances evolve as unique biological individual, thus being a unit of selection in evolution. If this is so, then it is arguably the case that some biological adaptations have evolved at the level of the multispecies system, what we call hologenomic adaptations. However, no research has yet been devoted to investigating their nature, or how these adaptations can be distinguished from adaptations at the (...) species-level (genomic adaptations). In this paper, we cover this gap by investigating the nature of hologenomic adaptations. By drawing on the case of the evolution of sanguivory diet in vampire bats, we argue that a trait constitutes a hologenomic adaptation when its evolution can only be explained if the holobiont is considered the biological individual that manifests this adaptation, while the bacterial taxa that bear the trait are only opportunistic beneficiaries of it. We then use the philosophical notions of emergence and inter-identity to explain the nature of this form of individuality and argue why it is special of holobionts. Overall, our paper illustrates how the use of philosophical concepts can illuminate scientific discussions, in the trend of what has recently been called metaphysics of biology. (shrink)

The genome is one of the primordial elements of the human being and is responsible for human identity and its transmission to descendants. The gene as such ought not be appropriated or owned by man. However, any sufficiently complete description of a gene should be capable of being protected as intellectual property. Furthermore, all utilisations of a gene or its elements that permit development of processes or new products should be patentable. Ethics, in the sense of moral action, should (...) come into play from the very first stages of research into the human genome. Protection of intellectual and industrial property is of purely legal concern and need not provoke ethical consideration. By contrast, the use of the results of, and in particular the commercialisation of products deriving from, research into the human genome, ought to be subjected to ethical consideration and control. Considering the economic and societal stakes of such research, ethical analysis ought to be at an international level if mistakes and unforeseen risks of conflict are to be avoided. (shrink)

The human genome is commonly regarded as a ‘natural’ connection between all human beings, as it has been handed down to us by our predecessors. As such, it is believed to represent common heritage of humanity, e.g. a resource of outstanding value that should be the object of special protection and international concern. Some critics argue that germline manipulation would disrupt this natural heritage and that we have a duty to preserve the integrity of the human germline. However, a closer (...) look reveals that the concept of common heritage of humanity does not necessarily imply the impermissibility of germline manipulation. If it is restricted to the prevention of severe diseases, germline manipulation does not represent a threat to the unity and identity of the human species, even though this would create a new form of relationship between human beings, namely that between a designer and a genetically designed person. (shrink)

Is the gene 'special' for historians? What effects, if any, has the notion of the 'gene' had on our understanding of history? Certainly, there is a widespread public and professional perception that genetics and history are or should be in dialogue with each other in some way. But historians and geneticists view history and genetics very differently - and assume very different relationships between them. And public perceptions of genes, genetics, genomics, and indeed the nature and meanings of 'history' differ (...) yet again. Here, in looking at the meaning, and the implications - the significance - of the gene (and its corollary scientific disciplines and approaches) specifically to historians, I will focus on two aspects of the discourse. First, I will examine the ways in which historians have thus far approached genes and genetics, and the impact such studies have had on the field. There is considerable overlap between the subject matter of genetics/genomics and many of the most widely used analytic categories of contemporary historiography - race, gender, sexuality, ethnicity, (dis)ability, among others. Yet the impact of genetics and genomics on society has been studied principally by anthropologists, sociologists and ethicists.2 Only two historical sub-disciplines have engaged with the rise of genetics to any significant degree: the histories of science and of medicine. What does this indicate or suggest? Second, I will explore the impact of the 'gene' and genetic understandings (of, for example, the body, health, disease, identity, the family, and evolution) on public conceptions of history itself. (shrink)

Understanding how scientific activities use naming stories to achieve disciplinary status is important not only for insight into the past, but for evaluating current claims that new disciplines are emerging. In order to gain a historical understanding of how new disciplines develop in relation to these baptismal narratives, we compare two recently formed disciplines, systems biology and genomics, with two earlier related life sciences, genetics and molecular biology. These four disciplines span the twentieth century, a period in which the processes (...) of disciplinary demarcation fundamentally changed from those characteristic of the nineteenth century. We outline how the establishment of each discipline relies upon an interplay of factors that include paradigmatic achievements, technological innovation, and social formations. Our focus, however, is the baptism stories that give the new discipline a founding narrative and articulate core problems, general approaches and constitutive methods. The highly plastic process of achieving disciplinary identity is further marked by the openness of disciplinary definition, tension between technological possibilities and the ways in which scientific issues are conceived and approached, synthesis of reductive and integrative strategies, and complex social interactions. The importance – albeit highly variable – of naming stories in these four cases indicates the scope for future studies that focus on failed disciplines or competing names. Further attention to disciplinary histories could, we suggest, give us richer insight into scientific development. (shrink)

Rice cultivation is one of the most important agricultural activities on earth, with nearly 90% of it being produced in Asia. It belongs to the family of crops that includes wheat, maize and barley, and it supplies more than 50% of calories consumed by the world population. Its immense economic value and a relatively small genome size makes it a focal point for scientific investigations, so much so that four whole genome sequence drafts with varying qualities have been generated by (...) both public and privately funded ventures. The availability of a complete and high‐quality map‐based sequence has provided the opportunity to study genome organization and evolution. Most importantly, the order and identity of 37,544 genes of rice have been unraveled. The sequence provides the required ingredients for functional genomics and molecular breeding programs aimed at unraveling intricate cellular processes and improving rice productivity. BioEssays 28: 421–432, 2006. © 2006 Wiley Periodicals, Inc. (shrink)

The convergence of increasingly efficient high throughput sequencing technology and ubiquitous Internet use by the public has fueled the proliferation of companies that provide personal genetic information (PGI) direct-to-consumers. Companies such as 23andme (Mountain View, CA) and Navigenics (Foster City, CA) are emblematic of a growing market for PGI that some argue represents a paradigm shift in how the public values this information and incorporates it into how they behave and plan for their futures. This new class of social networking (...) business ventures that market the science of the personal genome illustrates the new trend in collaborative science. In addition to fostering a consumer empowerment movement, it promotes the trend of democratizing information—openly sharing of data with all interested parties, not just the biomedical researcher—for the purposes of pooling data (increasing statistical power) and escalating the innovation process. This target article discusses the need for new approaches to studying DTC genomics using social network analysis to identify the impact of obtaining, sharing, and using PGI. As a locus of biosociality, DTC personal genomics forges social relationships based on beliefs of common genetic susceptibility that links risk, disease, and group identity. Ethical issues related to the reframing of DTC personal genomic consumers as advocates and research subjects and the creation of new social formations around health research may be identified through social network analysis. (shrink)

The goal of the Human Genome Diversity Project (HGDP) was to reconstruct the history of human evolution and the historical and geographical distribution of populations with the help of scientific research. Through this kind of research, the entire spectrum of genetic diversity to be found in the human species was to be explored with the hope of generating a better understanding of the history of humankind. An important part of this genome diversity research consists in taking blood and tissue samples (...) from indigenous populations. For various reasons, it has not been possible to execute this project in the planned scope and form to date. Nevertheless, genomic diversity research addresses complex issues which prove to be highly relevant from the perspective of research ethics, transcultural medical ethics, and cultural philosophy. In the article at hand, we discuss these ethical issues as illustrated by the HGDP. This investigation focuses on the confrontation of culturally diverse images of humans and their cosmologies within the framework of genome diversity research and the ethical questions it raises. We argue that in addition to complex questions pertaining to research ethics such as informed consent and autonomy of probands, genome diversity research also has a cultural–philosophical, meta-ethical, and phenomenological dimension which must be taken into account in ethical discourses. Acknowledging this fact, we attempt to show the limits of current guidelines used in international genome diversity studies, following this up by a formulation of theses designed to facilitate an appropriate inquiry and ethical evaluation of intercultural dimensions of genome research. (shrink)

How might we change ourselves without ending our existence? What could we become, if we had access to an advanced form of bioengineering that allowed us dramatically to alter our genome? Could we remain in existence after ceasing to be alive? What is it to be human? Might we still exist after changing ourselves into something that is not human? What is the significance of human extinction? Steven Luper addresses these questions and more in this thought-provoking study. He defends an (...) animalist account, which says that we are organisms, but claims that we are also material objects. His book goes to the heart of the most complex questions about what we are and what we might become. Using case studies from the life sciences as well as thought experiments, Luper develops a new way of thinking about the nature of life and death, and whether and how human extinction matters. (shrink)

Recent preclinical studies have shown the feasibility of specific variants of nuclear transfer to prevent mitochondrial DNA disorders. Nuclear transfer could be a valuable reproductive option for carriers of mitochondrial mutations. A clinical application of nuclear transfer, however, would entail germ-line modification, more specifically a germ-line modification of the mitochondrial genome. One of the most prominent objections against germ-line modification is the fear that it would become possible to alter ‘essential characteristics’ of a future person, thereby possibly violating the child's (...) right to an open future. As only the nuclear DNA would contain the ingredients for individual characteristics, modification of the mtDNA is often considered less controversial than modification of the nuclear DNA. This paper discusses the tenability of this dichotomy. After having clarified the concept of germ-line modification, it argues that modification of the mtDNA is not substantively different from modification of the nuclear DNA in terms of its effects on the identity of the future person. Subsequently the paper assesses how this conclusion affects the moral evaluation of nuclear transfer to prevent mtDNA disorders. It concludes that the moral acceptability of germ-line modification does not depend on whether it alters the identity of the future child—all germ-line modifications do—but on whether it safeguards the child's right to an open future. If nuclear transfer to prevent mtDNA disorders becomes safe and effective, then dismissing it because it involves germ-line modification is unjustified. (shrink)

Robert Sparrow argues that genome editing is unlikely to be person-affecting for the foreseeable future and, as a result, will neither benefit nor harm edited individuals. We regard Sparrow’...

Robert Sparrow’s argument that, for the foreseeable future, genome editing will be an identity-affecting intervention subject to the critique of the nonidentity problem (Sparrow 2022) is convincing...

Evolutionary conceptions of species place special weight on each species having dynamic independence as a unit of evolution. However, the idea that species have their own historical fates, tendencies, or roles has resisted systematic analysis. Growing evidence from population genomics shows that many paradigm species regularly engage in hybridization. How can species be defined in terms of independent evolutionary identities if their genomes are dynamically coupled through lateral exchange? I introduce the concept of a “composite lineage” to distinguish species and (...) subspecies on the basis of the proportion of a group’s heritable traits that are uncoupled from reproductive exchange. (shrink)

This article is based on a qualitative empirical project about a distinct kinship group who were among the first identified internationally as having a genetic susceptibility to cancer. 50 were invited to participate. 15, who had all accepted testing, were interviewed. They form a unique case study. This study aimed to explore interviewees’ experiences of genetic testing and how these influenced their family relationships. A key finding was that participants framed the decision to be tested as ‘common sense’; the idea (...) of choice around the decision was negated and replaced by a moral imperative to be tested. Those who did not follow ‘common sense’ were judged to be imprudent. Family members who declined testing were discussed negatively by participants. The article addresses what is ethically problematic about how test decliners were discussed and whether these ethical concerns extend to others who are offered genetic testing. Discussions showed that genetic testing was viewed as both an autonomous choice and a responsibility. Yet the apparent conflict between the right to autonomy and the moral imperative of responsibility allowed participants to defend test decliners’ decisions by expressing a preference for or defending choice over responsibility. The ‘right not to know’ seemed an important moral construct to help ethically manage unpopular decisions made by close family who declined testing. In light of this research, the erosion of the ‘right not to know’ in the genomic age could have subtle yet profound consequences for family relationships. (shrink)

The convergence of increasingly efficient high throughput sequencing technology and ubiquitous Internet use by the public has fueled the proliferation of companies that provide personal genetic information direct-to-consumers. Companies such as 23andme and Navigenics are emblematic of a growing market for PGI that some argue represents a paradigm shift in how the public values this information and incorporates it into how they behave and plan for their futures. This new class of social networking business ventures that market the science of (...) the personal genome illustrates the new trend in collaborative science. In addition to fostering a consumer empowerment movement, it promotes the trend of democratizing information—openly sharing of data with all interested parties, not just the biomedical researcher—for the purposes of pooling data and escalating the innovation process. This target article discusses the need for new approaches to studying DTC genomics using social network analysis to identify the impact of obtaining, sharing, and using PGI. As a locus of biosociality, DTC personal genomics forges social relationships based on beliefs of common genetic susceptibility that links risk, disease, and group identity. Ethical issues related to the reframing of DTC personal genomic consumers as advocates and research subjects and the creation of new social formations around health research may be identified through social network analysis. (shrink)

Cellular identity and its response to external or internal signalling variations are encoded in a cell's genome as regulatory information. The genomic regions that specify this type of information are highly variable and degenerated in their sequence determinants, as it is becoming increasingly evident through the application of genome‐scale methods to study gene expression. Here, we speculate that the same scenario applies to the regulatory regions controlling where DNA replication starts in the metazoan genome. We propose that replication (...) origins cannot be defined as unique genomic features, but rather that DNA synthesis initiates opportunistically from accessible DNA sites, making cells highly robust and adaptable to environmental or developmental changes. (shrink)

The Human Genome Project will produce information permitting increasing opportunities to prevent genetically transmitted harms, most of which will be compatible with a life worth living, through avoiding conception or terminating a pregnancy. Failure to prevent these harms when it is possible for parents to do so without substantial burdens or costs to themselves or others are what J call “wrongful handicaps”. Derek Parfit has developed a systematic difficulty for any such cases being wrongs — when the harm could be (...) prevented only by preventing the existence of the individual who would have a worthwhile life even with the handicap, then bringing him into existence with the handicap does not make him worse off and so does not wrong him. I argue that a non “person‐affecting” principle requiring the avoidance of suffering and limited opportunity correctly accounts for cases of wrongful handicaps without requiring that the individuals with the handicap have been made worse off and therefore wronged. It is an advantage, not a difficulty, of this account that it does not imply that the person with the handicap has been wronged or is a victim with a special moral complaint. (shrink)

The Human Genome Project will produce information permitting increasing opportunities to prevent genetically transmitted harms, most of which will be compatible with a life worth living, through avoiding conception or terminating a pregnancy. Failure to prevent these harms when it is possible for parents to do so without substantial burdens or costs to themselves or others are what J call “wrongful handicaps”. Derek Parfit has developed a systematic difficulty for any such cases being wrongs — when the harm could be (...) prevented only by preventing the existence of the individual who would have a worthwhile life even with the handicap, then bringing him into existence with the handicap does not make him worse off and so does not wrong him. I argue that a non “person‐affecting” principle requiring the avoidance of suffering and limited opportunity correctly accounts for cases of wrongful handicaps without requiring that the individuals with the handicap have been made worse off and therefore wronged. It is an advantage, not a difficulty, of this account that it does not imply that the person with the handicap has been wronged or is a victim with a special moral complaint. (shrink)

In this article, we discuss epistemological limitations relating to the use of ethnoracial categories in biomedical research as devised by the Office of Management and Budget’s institutional guidelines. We argue that the obligation to use ethnoracial categories in genomics research should be abandoned. First, we outline how conceptual imprecision in the definition of ethnoracial categories can generate epistemic uncertainty in medical research and practice. Second, we focus on the use of ethnoracial categories in medical genetics, particularly genomics-based precision medicine, where (...) ethnoracial identity is understood as a proxy for medically relevant differences among individuals. Notably, extensive criticisms have been made already against the genetic interpretation of races, but, nonetheless, the concept of race remains a key element of contemporary genomics. This motivates us to explore possible reasons why such criticisms may have been ineffective in redirecting attention to other (non-race-based) ways of controlling for human variability. We contend that popular arguments against the idea that human races have a genetic basis, though convincing in many respects, are not sufficient to exclude the pragmatic use of race and ethnicity as proxies for genetic variability related to complex phenotypes. Finally, we provide two further arguments to support the idea that ethnoracial categories are unlikely to provide meaningful insights into medical genetics, which implies that even the interpretation of race as a useful tool to stratify disease risk is unwarranted. (shrink)

This article explores the contemporary scientific practice of human genome science in light of Michel Foucault’s articulation of the problem of population. Rather than transcending the politics of social categories and identities, human genome research mobilizes many different kinds of populations. How then might we aim to avoid overgeneralized readings of the refiguring of human difference in the life sciences and grapple with the multiple and contradictory logics of population classification? In exploring the study of human variation through the case (...) of the ‘Quebec founder population’ at a private genome research laboratory in Canada, the article argues that the power to define and shape meanings of human variation and to organize vitality is not held by any one institution or form of scientific practice. While molecular genomics may be transforming conceptions of human difference, the laboratory is only one of many places where human genomic variation accrues value, meaning and relevance. Molecular configurations of human difference gain meaning through a traffic in populations that extends beyond the laboratory. In the case explored here this traffic in populations is constituted within a nexus of empire, national census practices and contemporary articulations of multicultural policies. (shrink)

My students tend to rank Parfit’s Energy Policy and the Further Future1 among their favourite pieces. It is a marvellously argued, eye-opening paper. One of the most interesting passages comes right at the end, when Parfit suggests that we should act as if we had never realised that the non-identity problem exists: “When we are discussing social policies, should we ignore the point about personal identity? Should we allow ourselves to say that a choice like that of the (...) Risky Policy or of Depletion might be against the interests of people in the further future? This is not true. Should we pretend that it is? […] I would not want people to conclude that we can be less concerned about the more remote effects of our social policies. So I would be tempted to suppress the argument for this conclusion.” (2010 [1983], 119) In the paper, Parfit continuously stresses the implications of our views on personal identity. He differentiates between what he later, in his Reasons and Persons, calls a “narrow” and a “wide” person-affecting view (1984, ch. 18).2 On a narrow person-affecting view, we take seriously each person’s identity and assume that it is determined by its genome which is a product of a certain ovum and a certain sperm cell (112-113). On this view, we may then evaluate an action by considering its impact on each individual that is affected. An action is, thus, better or worse because it is better or worse for someone. Consequently, there may be alternative actions available to perform that seem better or worse, but aren’t really, as they are not better or worse for someone. One example that illustrates this point is the case of a 14 year-old who decides to have a child and, due to her age, gives the boy she conceives a bad start in life (113). In response, one may want to argue that she should have had a child later and that that child would have had a better start in life. This, however, overlooks that the boy that has been born to the young mother could not have been born later: the child she actually had could only come into existence because she decided to become a mother when she was 14. Hence, Parfit argues, we can “not claim that, in having this child, what she did was worse for him” (113, italics in the original). (shrink)

New genomic technologies provide more robust, discriminating and reproducible methods of assigning biological identity than anything that has previously been available. Given the extent to which these technologies are becoming embedded in everyday life, it seems inevitable that they will come to play an increasingly important role in the way we construct our individual and collective identities.

Despite decades of research, morphogenesis along the various body axes remains one of the major mysteries in developmental biology. A milestone in the field was the realisation that a set of closely related regulators, called Hox genes, specifies the identity of body segments along the anterior–posterior (AP) axis in most animals. Hox genes have been highly conserved throughout metazoan evolution and code for homeodomain‐containing transcription factors. Thus, they exert their function mainly through activation or repression of downstream genes. However, (...) while much is known about Hox gene structure and molecular function, only a few target genes have been identified and studied in detail. Our knowledge of Hox downstream genes is therefore far from complete and consequently Hox‐controlled morphogenesis is still poorly understood. Genome‐wide approaches have facilitated the identification of large numbers of Hox downstream genes both in Drosophila and vertebrates, and represent a crucial step towards a comprehensive understanding of how Hox proteins drive morphological diversification. In this review, we focus on the role of Hox genes in shaping segmental morphologies along the AP axis in Drosophila, discuss some of the conclusions drawn from analyses of large target gene sets and highlight methods that could be used to gain a more thorough understanding of Hox molecular function. In addition, the mechanisms of Hox target gene regulation are considered with special emphasis on recent findings and their implications for Hox protein specificity in the context of the whole organism. BioEssays 30:965–979, 2008. © 2008 Wiley Periodicals, Inc. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:Reviewed by:Philosophers of Nothingness: An Essay on the Kyoto School, and: A Buddhist-Christian Logic of the Heart: Nishida's Kyoto School and Lonergan's "Spiritual Genome" as World BridgeAmos YongPhilosophers of Nothingness: An Essay on the Kyoto School. By James W. Heisig. Honolulu: University of Hawai'i Press, 2001. xi + 380 pp.A Buddhist-Christian Logic of the Heart: Nishida's Kyoto School and Lonergan's "Spiritual Genome" as World Bridge. By John Raymaker. Lanham, (...) MD: University Press of America, 2002. x + 214 pp.These are two very different types of books. Heisig, research fellow (since 1978) and former director (1999-2001) of the Nanzan Institute for Religion and Culture and well known to readers of this journal as author, book editor, and translator extraordinaire, [End Page 271] has produced the definitive exposition of the Kyoto School in the English language with Philosophers of Nothingness. Raymaker, a longtime Roman Catholic missionary to Japan and student of Lonergan's work, attempts in A Buddhist-Christian Logic of the Heart to establish points of contact between Lonergan's transcendental method and Nishida's pure experience. Let me briefly summarize the two volumes before making some comparative observations.Philosophers of Nothingness is divided into five sections: an "Orientation" (introduction) and a "Prospectus" (transitional epilogue) flanking the three sections on Nishida, Tanabe, and Nishitani, each constituting approximately twenty short chapters. In each case, Heisig combines intellectual biography and history of ideas approaches, thus both setting forth the wider social, political, and intellectual contexts of the Kyoto School thinkers and elaborating on their distinctive ideas. Those interested in the latter will not be disappointed. Nishida's "pure experience," "active intuition," "absolutely contradictory self-identity," "logic of locus" (or basho, topos, place), and "historical world," among other themes, are all given special attention within the broader framework of his philosophical project. In the case of Tanabe, unique concepts such as "absolute mediation," "logic of species," and "metanoetic philosophy" (or philosophy of repentance) are illuminated. And, of course, the contributions of Nishitani are fully represented: "nihilism," "the standpoint of emptiness," and the sunyata of time and history.At the same time, those looking for background discussion will also find Heisig's exposition helpful, and that along (at least) the following three lines. First, an attempt is made to take seriously the self-understanding of Kyoto School thinkers of doing philosophy in the world context. This is, of course, a bold undertaking which some in our time might summarily dismiss either as hubris or as ignorance. Yet beginning with Nishida and continuing through Tanabe, Nishitani and others (such as Tanabe's student, Abe Masao), the task was to engage as Japanese philosophers with Western thinkers and ideas. Here, of course, the tension between particularity and universality is most intense, and the Kyoto philosophers proceeded with full awareness of the issues at stake. Now while their endeavors can be criticized from either direction, what cannot be criticized without self-refutation is their motivating belief that they could understand the West and vice versa.Second, and connected with the first, is the social and political twentieth-century context of Japan and its relationship with modernity and with the Western world. Here, Heisig brilliantly negotiates between laying out the facts and locating the passions and failures of the Kyoto philosophers. This requires that he correctly identify their contributions as Japanese thinkers engaging modernity without ignoring their blind spots. As such, longstanding questions concerning Kyoto School philosophy as an ideology for Japanese nationalism are confronted head-on. Heisig shows how political naīvete resulted in political entanglements. At the same time, his discussion illuminates the sociopolitical backdrop that informs and shapes all philosophizing. The result is a balanced presentation that is neither apologetic on the one side nor condemnatory on the other.Finally, the question of religion and its relationship to Kyoto School philosophy [End Page 272] is also taken up. Nishida's practice of zazen is thus shown to inform his philosophizing, if only implicitly (on Nishida's own account), even while Tanabe's experience of metanoia (conversion) as mediated through the "Other-power" matrix of Shinran's religious thought is shown to impact his philosophy explicitly... (shrink)

This paper examines the promise of science and its role in shaping research policy. The promise of science is characterized by expectations of science, which are embedded in promissory discourses that envision futures made possible through advances in promising science. Through a single case study of the origins of Genome Canada, the research was guided by the question: How did expectations of genomics shape the creation of Genome Canada? A conceptualization of discursive power and expectations of genomics storylines provide the (...) theoretical and analytical basis for an in-depth examination of the ideational effects and material impacts on research policy decisions over three years that culminated in the creation of Genome Canada. Expectations of genomics storylines functioned in a complex interplay of discursive practices and dynamics among diverse policy actors within a genomics discourse-coalition to produce a range of ideational and material impacts. The expectations of genomics storylines produced powerful genomics subject-positions from which policy actors perceived their interests, identities and preferences and gained agency, which led to various material impacts, such as mobilizing support and funding, coordinating activities and transforming Canada’s research policy framework. With the increasing importance of research policy to a range of broader policy priorities underpinned by expectations that science will resolve societal challenges and contribute to socio-economic benefits, this paper sheds light on how complex research policy decisions are made; it further contributes to understanding the role of promissory discourses in shaping those decisions. (shrink)

The vertebrate immune system provides a remarkable showcase of the different ways the genome can be used to specify cellular identity and to mediate cellular function. It is arguably the leading mammalian system in which gene regulation programs that drive the acquisition of specific cell-type identities have been elucidated at the single cell level. More broadly for molecular genomics, the activation-induced gene expression pathways used in immune effector responses have provided textbook cases for fundamental elements of transcription factor assembly (...) at enhancers ; and immune system genes and gene clusters have provided key paradigms for the roles of long-range.. (shrink)