1900 was a remarkable year for science. Several ground-breaking events took place, in physics, biology and psychology. Planck introduced the quantum concept, the work of Mendel was rediscovered, and Sigmund Freud published The Interpretation of Dreams . These events heralded the emergence of completely new areas of inquiry, all of which greatly affected the intellectual landscape of the 20 th century, namely quantum physics, genetics and psychoanalysis. What do these developments have in common? Can we discern a family likeness, a (...) basic affinity between them, so that we can use the one to deepen our understanding of the other? One common denominator is that they open up realms of inquiry that are significantly different from the world of everyday experience, namely the realm of elementary particles, of genes and genomes, and of the unconscious. But to what extent can we meaningfully argue, for instance, that the genome is the biological unconscious, and the unconscious the psychic genome? To address these questions, I will build on the work of two key intellectual figures who have explored the affinities of these developments in depth, namely Erwin Schrödinger (a quantum physicist and avid reader of Schopenhauer who initiated molecular biology) and Jacques Lacan (who reframed the specificity of psychoanalysis with the help of 20 th century science: the era of structural linguistics, but also of quantum physics, molecular biology, bioinformatics and DNA). (shrink)

In this paper I argue that some human reproductive genome editing interventions can be therapeutic in nature, and thus that it is false that all such interventions just create healthy individuals. I do this by showing that the conditions established by a therapy definition are met by certain reproductive genome editing interventions. I then defend this position against two objections: (a) reproductive genome editing interventions do not attain one of the two conditions for something to be a therapy, and (b) (...) some reproductive genome editing interventions are therapeutic but in a nonstandard way. In the Conclusion I call for a more nuanced discussion of the nature of reproductive genome editing interventions. (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)

Cells are cognitive entities possessing great computational power. DNA serves as a multivalent information storage medium for these computations at various time scales. Information is stored in sequences, epigenetic modifications, and rapidly changing nucleoprotein complexes. Because DNA must operate through complexes formed with other molecules in the cell, genome functions are inherently interactive and involve two-way communication with various cellular compartments. Both coding sequences and repetitive sequences contribute to the hierarchical systemic organization of the genome. By virtue of nucleoprotein complexes, (...) epigenetic modifications, and natural genetic engineering activities, the genome can serve as a read-write storage system. An interactive informatic conceptualization of the genome allows us to understand the functional importance of DNA that does not code for protein or RNA structure, clarifies the essential multidirectional and systemic nature of genomic information transfer, and emphasizes the need to investigate how cellular computation operates in reproduction and evolution. (shrink)

Somatic diversification of antigen receptor genes depends on the activity of enzymes whose homologs participate in a mutagenic DNA repair in unicellular species. Indeed, by engaging error-prone polymerases, gap filling molecules and altered mismatch repair pathways, lymphocytes utilize conserved components of genomic stress response systems, which can already be found in bacteria and archaea. These ancient systems of mutagenesis and repair act to increase phenotypic diversity of microbial cell populations and operate to enhance their ability to produce fit variants during (...) stress. Coopted by lymphocytes, the ancient mutagenic processing systems retained their diversification functions instilling the adaptive immune cells with enhanced evolvability and defensive capacity to resist infection and damage. As reviewed here, the ubiquity and conserved character of specialized variation-generating mechanisms from bacteria to lymphocytes highlight the importance of these mechanisms for evolution of life in general. (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)

Definition of problem Newborn screening (NBS) is an internationally successful program for the secondary prevention of rare congenital diseases. At present, most of the target conditions in NBS are diagnosed by biochemical markers. Recent advances in genomic sequencing and in the bioinformatic evaluation of genetic variants will soon make it feasible however to expand NBS significantly by testing newborns directly for pathogenic variants. Yet, genomic newborn screening (gNBS) raises important ethical issues that require resolution, given that several pilot studies on (...) gNBS implementation are already underway. Given a rapidly growing scholarly engagement with the ethics of gNBS, a more systematic and comprehensive mapping of the ethical issues and considerations relevant to gNBS is needed to move the debate forward at this point. - -/- Methods In this integrative review, we survey the literature with the aim of delineating a conceptual framework for the ethics of gNBS, which organizes the ongoing debate and thereby provides guidance for further research. Here in Part I, we focus primarily on an exposition of the ethical issues and questions involved in gNBS program design. - -/- Conclusion The ethical issues divide into issues regarding (1) the test itself and the selection of target conditions, (2) informed consent, and (3) genomic data generation, storage, and use. Regarding (1) we discuss several dimensions along which potential target conditions can differ and their ethical implications, and formulate some requirements on appropriate selection criteria with special regard to minimizing diagnostic and therapeutic uncertainty. Regarding (2) we discuss the need for informed consent, the structure and content of pre-test counseling (when, who, what, how), the suggestion of a tiered testing offer, and familial conflict. Regarding (3) we discuss liberal versus restrictive approaches to genomic data generation, parental consent to genomic raw data storage for further uses beyond the test, some candidate further uses, and the risk of abuse. (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)

When the Human Genome Project (HGP) was launched, our genome was presented as our ‘blueprint’, a metaphor reflecting a genetic deterministic epistemology. Eventually, however, the HGP undermined rather than strengthened the understanding of genomes as blueprints and of genes as ultimate causal units. A symbolical turning point was the discovery that the human genome only contains 22,500 genes. Initially, this was seen as a narcissistic offence. Gradually, however, it strengthened the shift from traditional genetics and biotechnology (i.e., gene-oriented approaches) to (...) genomics, i.e. genome-oriented or systems approaches, emphasizing complexity. The 20th century can be regarded as the century of biotechnology and of the gene. Its history demonstrated that the will to know (notably: to know ourselves) has never been a disinterested affair: it is driven by a will to improve (notably: to improve ourselves). In this article it is claimed that, as genomics takes us beyond a genetic deterministic understanding of life, this must have consequences for societal research and debate as well. Policies for self-improvement will increasingly rely on the use of complex interpretation. Therefore, the emphasis must shift from issues such as genetic manipulation and human enhancement to issues involved in governance of novel forms of information. (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)

The involvement of the public in the governance of genomics has become a topic of growing interest among scholars, practitioners and policy-makers. The implementation of public involvement programmes may be quite expensive, and the design and evaluation of public participation is a matter of controversy. Thus, this paper examines the justifications for public participation in the governance of genomic research to help understand whether public involvement is worthwhile and to provide a guide to the design of public participation. I (...) identify four primary justifications in support of public involvement. I argue that three of them have serious flaws: neither an increase in the stability of institutions, nor the positive effects on the virtues of individuals, nor the epistemic merits of participatory activities provide a solid ground for the engagement of the public in the governance of genomics. However, the ideal of legitimacy in the exercise of coercive power appears to lend strong support to public involvement programmes. Given that the reasons why public involvement is sought shape the design of the participatory activities, restricting the range of valid justifications promises to simplify the task of designing and evaluating public involvement. (shrink)

Background Genomic research on neurodevelopmental disorders (NDDs), particularly involving minors, combines and amplifies existing research ethics issues for biomedical research. We performed a review of the literature on the ethical issues associated with genomic research involving children affected by NDDs as an aid to researchers to better anticipate and address ethical concerns. Results Qualitative thematic analysis of the included articles revealed themes in three main areas: research design and ethics review, inclusion of research participants, and communication of research results. Ethical (...) issues known to be associated with genomic research in general, such as privacy risks and informed consent/assent, seem especially pressing for NDD participants because of their potentially decreased cognitive abilities, increased vulnerability, and stigma associated with mental health problems. Additionally, there are informational risks: learning genetic information about NDD may have psychological and social impact, not only for the research participant but also for family members. However, there are potential benefits associated with research participation, too: by enrolling in research, the participants may access genetic testing and thus increase their chances of receiving a (genetic) diagnosis for their neurodevelopmental symptoms, prognostic or predictive information about disease progression or the risk of concurrent future disorders. Based on the results of our review, we developed an ethics checklist for genomic research involving children affected by NDDs. Conclusions In setting up and designing genomic research efforts in NDD, researchers should partner with communities of persons with NDDs. Particular attention should be paid to preventing disproportional burdens of research participation of children with NDDs and their siblings, parents and other family members. Researchers should carefully tailor the information and informed consent procedures to avoid therapeutic and diagnostic misconception in NDD research. To better anticipate and address ethical issues in specific NDD studies, we suggest researchers to use the ethics checklist for genomic research involving children affected by NDDs presented in this paper. (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)

Michael Crichton (1942–2008) was a prolific writer of “science novels”, portraying the psychodynamics and sociodynamics of genomics and other NBIC (Nanotechnology, Biotechnology, Information technology and Cognitive science) fields, fostering critical reflection on their societal dimensions. Science novels may serve as “literary experiments”, as windows into the (future) impacts of current research. Although on the surface level Crichton’s books may be seen as entertaining bestsellers, an in-depth reading allows them to emerge as exploratory exercises, usable as course material for science (...) students. To open up this “deeper” dimension, I read Crichton’s work from a psychoanalytic angle, focusing on typical scenes and themes, such as the idea of a scientific crisis, geneticization and gender role reversal. The core question of a typical Crichton novel usually is: what will happen when a new laboratory research field suddenly comes out into the open? Notably, the gender dimension reflects and exemplifies the fascinations and concerns with contemporary technoscience addressed by him. (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)

Research studies increasingly use genomic sequencing to draw inferences based on comparisons between the genetic data of a set of purportedly related individuals. As use of this method progresses, it will become much more common to discover that the assumed biological relationships between the individuals are mistaken. Consequently, researchers will have to grapple with decisions about whether to return incidental findings of misattributed parentage on a much larger scale than ever before. In this paper we provide an extended argument for (...) the view that the default position for researchers ought to be the non-disclosure of misattributed parentage. (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.

Since the human genome was decoded, great emphasis has been placed on the unique, personal nature of the genome, along with the benefits that personalized medicine can bring to individuals and the importance of safeguarding genetic privacy. As a result, an equally important aspect of the human genome – its common nature – has been underappreciated and underrepresented in the ethics literature and policy dialogue surrounding genetics and genomics. This article will argue that, just as the personal nature of (...) the genome has been used to reinforce individual rights and justify important privacy protections, so too the common nature of the genome can be employed to support protections of the genome at a population level and policies designed to promote the public's wellbeing. In order for public health officials to have the authority to develop genetics policies for the sake of the public good, the genome must have not only a common, but also a public, dimension. This article contends that DNA carries a public dimension through the use of two conceptual frameworks: the common heritage framework and the common resource framework. Both frameworks establish a public interest in the human genome, but the CH framework can be used to justify policies aimed at preserving and protecting the genome, while the CR framework can be employed to justify policies for utilizing the genome for the public benefit. A variety of possible policy implications are discussed, with special attention paid to the use of large-scale genomics databases for public health research. (shrink)

The post-genomic era raises questions about neo-Darwinian genetic determinism. Instead, open aspects of macroevolution become intelligible by Evo-Devo research. At all developmental levels, self-organization acts robustly towards “wholeness”, as exemplified by organoid technologies. In retinal reaggregates histotypical features are reached along different formative routes. Thus, tissue formation is not merely gene-directed, but channeled by unpredictable external conditions. These insights restrict conceptions of onto- and phylogenesis. Neither is characterized by unlimited randomness nor by finite genocentrism. A re-examination of Driesch´s drive to (...) wholeness, i.e., robustness and intentionality, appears timely, while his teleologic ­ postulates remain undecidable by reductionist reasoning. (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)

[English version below] Diese Stellungnahme zielt darauf ab, Empfehlungen für akzeptable Rahmenbedingungen eines Genomischen-Neugeborenen-Screening (gNBS)-Programms in Deutschland zu formulieren, darunter Empfehlungen zu Auswahlkriterien für Zielkrankheiten und zum Management eines gNBS-Programms sowie zur gesetzlichen Neuregulierung. Sie ist Ergebnis eines dreijährigen Forschungsprojektes, das an den Universitäten Heidelberg und Mannheim durchgeführt wurde. An dem interdisziplinären Projekt beteiligt waren Forscher:innen aus den Bereichen Kinder- und Jugendmedizin, Humangenetik, Rechtswissenschaft, Medizinische Psychologie und Medizinethik sowie Vertreter:innen von Patient:innen-Organisationen (Kindernetzwerk e.V. und Deutsche Interessengemeinschaft Phenylketonurie und verwandte angeborene (...) Stoffwechselstörungen e.V.). Das Projekt wurde vom Bundesministerium für Bildung und Forschung (BMBF; seit 2025 Bundesministerium für Forschung, Technologie und Raumfahrt: BMFTR) gefördert und trägt den Titel NEW_LIVES („Genomic NEWborn screening programs – Legal Implications, Value, Ethics and Society” – „Genomische Neugeborenen-Screening-Programme – Rechtliche Implikationen, Werte, Ethik und Gesellschaft“). Die Stellungnahme beginnt mit einführenden Kapiteln zum Hintergrund des gNBS aus Sicht der verschiedenen Fachbereiche und aus Sicht der Gesellschaft, gefolgt von konkreten Empfehlungen für ein zukünftig mögliches gNBS-Pro- gramm in Deutschland. In der Einleitung (1.) werden erste Ergebnisse bisheriger Forschungsprojekte zum gNBS zusammengefasst und die Zielsetzung und Methode, einschließlich der Rolle von Patient:innen-Vertreter:innen bei der Erarbeitung der Stellungnahme werden beschrieben. In Abschnitt 2 („Medizinischer Hintergrund“) werden Entwicklung, Umfang und Ablauf des derzeitigen Neugeborenen-Screening (NBS)-Programms in Deutschland beschrieben und die Besonderheiten eines gNBS-Programms erläutert. Abschnitt 3 („Perspektive von Patient:innen, Eltern und medizinischem Personal“) fasst die Ergebnisse der sozialempirischen Studien zusammen, die im Rahmen des Projektes NEW_LIVES durchgeführt wurden (Fokusgruppen, bevölkerungs-repräsentative Befragung, querschnittliche Online-Befragung) und vergleicht die Ergebnisse mit anderen, internationalen Studien. Abschnitt 3 enthält außerdem eine gemeinsame Stellungnahme der beiden Patient:innen-Organisationen, die am Projekt NEW_LIVES mitgewirkt haben, zum gNBS. Abschnitt 4 („Genomisches Neugeborenen-Screening aus rechtlicher Sicht“) skizziert den rechtlichen Regulierungsrahmen zum gNBS in Deutschland. Abschnitt 5 („Genomisches Neugeborenen-Screening aus ethischer Sicht“) benennt zentrale ethische Herausforderungen des gNBS und formuliert ethische Orientierungsmaßstäbe für ein zukünftiges gNBS-Programm in Deutschland. Da die Neugeborenen diejenigen sind, die an einem gNBS teilnehmen würden und davon profitieren könnten, stellt deren Kindeswohl den zentralen ethischen Orientierungsmaßstab für die Bewertung dar. Die sich in Abschnitt 6 anschließenden Empfehlungen sind aus Sicht aller an der Erarbeitung dieser Stellungnahme beteiligten Fachdisziplinen und der Patient:innen-Organisationen verfasst Darunter sind einerseits transparente Auswahlkriterien für Zielkrankheiten eines gNBS-Programms (Kriterien 1–11). Andererseits werden Empfehlungen für die Einführung, Qualitätssicherung und Nutzenbewertung eines gNBS-Programms formuliert (Kriterien 12–18). Zudem enthält diese Stellungnahme Empfehlungen zur gesetzlichen Neuregulierung. Eine Publikation der Empfehlungen auf Englisch findet sich in Schnabel-Besson et al.: “A multi-dimensional fra- mework for establishing and managing a genomic newborn screening program” (Arbeitstitel; zum Zeitpunkt des Verfassens dieser Stellungnahme in Vorbereitung; DOI der Preprint-Version: 10.1101/2025.06.17.25329 471). - This position paper has the aim of formulating recommendations for what would be an acceptable framework for a genomic newborn screening (gNBS) programme in Germany, including recommendations for selection criteria for target diseases, and for the management of a gNBS programme, as well as for revision of legislation. It is the result of a research project conducted at the Universities of Heidelberg and Mannheim over the course of three years. This interdisciplinary project brought together researchers from the fields of paediatrics and adolescent medicine, human genetics, law, medical psychology, and medical ethics, as well as representatives of patient organisations (Kindernetzwerk e.V., and Deutsche Interessenge- meinschaft Phenylketonurie und verwandte angeborene Stoffwechselstörungen e.V.). The project was funded by the German Federal Ministry of Education and Research (BMBF; since 2025 Federal Ministry of Research, Technology and Space: BMFTR) and is called NEW_LIVES (“Genomic NEWborn screening programs – Legal Implications, Value, Ethics and Society”). The position paper begins with introductory chapters on gNBS from the perspective of the different disciplines, and from a societal viewpoint, followed by concrete recommendations for a possible future gNBS programme in Germany. The Introduction (1.) summarises the initial results of previous research projects on gNBS, and describes the objectives, and methodology, including the role of patient representatives, in the development of the position paper. Section 2 (“Medical Background”) describes the development, scope, and process of the current NBS programme in Germany, and explains the specific features of a gNBS programme. Section 3 (“Perspectives of Patients, Parents, and Medical Staff”) summarizes the results of the social-empirical studies conducted as part of the NEW_LIVES project (focus groups, population-representative survey, cross-sectional online survey), and compares the results with other, international studies. Section 3 also contains a joint statement on gNBS by the two patient organisations that participated in the NEW_LIVES project. Section 4 (“Genomic Newborn Screening from a Legal Perspective”) outlines the legal regulatory framework for gNBS in Germany. Section 5 (“Genomic Newborn Screening from an Ethical Perspective”) identifies key ethical challenges of gNBS, and formulates ethical guidelines for a future gNBS programme in Germany. Since newborns are the ones who would participate in, and benefit from gNBS, their welfare represents the central ethical guideline for the evaluation. The recommendations in Section 6 are written from the perspective of all disciplines, and patient organisations involved in the development of this position paper. These recommendations reflect the consensus of the inter-, and transdisciplinary group of authors, and form the core of the position paper. They comprise 18 criteria for a possible future gNBS programme in Germany. These include, on the one hand, transparent selection criteria for target diseases of a gNBS programme (criteria 1–11). On the other hand, recommendations are formulated for the introduction, quality assurance, and benefit assessment of a gNBS programme (criteria 12–18). This position paper also contains recommendations for new legal regulations. An English version of the recommendations, including the 11 criteria for selecting target diseases and the 7 criteria for programme management can be found in Schnabel-Besson E, Dikow N, Alex K et al.: “A multidimensional framework for establishing and managing a genomic newborn screening program” (working title; in preparation at the time of writing this position paper; doi of preprint version: 10.1101/2025.06.17.25329471). (shrink)

In order to populate the Moon, Mars, and the Solar System, we will need to take advantage of modern advances in genomics and gene editing to help us survive and thrive. Missions to the International Space Station have seen targeted use of both advanced field gene sequencing devices, and CRISPR-Cas9 for gene editing, to prove the benefits of this technology in spacefaring. To assist in everything from crop growth, radiation resistance, immunology, extreme temperature resistance, and cancer resistance we should (...) take advantage of every facet of genetics. Human genome editing will ultimately be necessary for movement further into the Solar System, but the technology is present to engineer resistance in important organisms whilst the ethics of human gene editing are processing. It is my view that as of the present, not enough discussion is being had in how this can benefit the commercial and governmental sectors, and opportunities are present for further experimentation in research rotation on the ISS and in commercial science missions. Since NASA astronaut Kate Rubins breakthrough missions in genomics and gene editing in 2016 and 2021, there is precedent for further use of CRISPR-Cas9 in microgravity, as well as genomics. Furthermore, recent developments in base editing and prime editing promise more accurate gene editing that should be tested in microgravity to demonstrate the potential benefits of the technology for human survival in the extremes of the Moon, Mars, and the Solar System. In this paper, I summarize the current landscape of genomics and gene editing in space, as well as immediate avenues for advancement in what this technology can do for human Moon, Mars and Solar System missions. I propose that the opportunity is there to solve complex problems for human physiology and food for human population of these extreme environments. (shrink)

This article analyzes a number of recently published autobiographies by leading participants in the Human Genome Project (HGP), in order to determine to what extent they may further our understanding of the history, scientific significance and societal impact of this major research endeavor. Notably, I will focus on three publications that fall under this heading, namely The common thread by John Sulston (2002/2003), The language of God (2006) by Francis Collins and A life decoded by Craig Venter (2007).1 What may (...) we learn from these autobiographical sources about the dynamics of scientific change? What is their added value in understanding science in general and the HGP in particular? These questions will be elaborated in three directions: on the level of knowledge (epistemology), power (politics) and the Self (ethics). On the epistemological level, genomics is often presented as a paradigm shift in the life sciences, a tremendous up-scaling of research, an “informatization” of life. Autobiographies may reveal how this shift – usually discussed in more general terms from a philosophy of science or science studies perspective – manifests itself on an individual scale, on a micro- epistemological level. On the political level, autobiographies may inform us about the micro-politics of scientific change. Finally, on the level of Self, autobiographies may allow us to analyze how researchers, through practices of Self, are actively engaged in constituting themselves as responsible subjects in the face of unpredictable dynamics and unforeseen dilemmas. (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)

Assisted reproductive technologies have greatly increased our control over reproductive choices, leading some bioethicists to argue that we face unprecedented moral obligations towards progeny. Several models attempting to balance the principle of procreative autonomy with these obligations have been proposed. The least demanding is the minimal threshold model (MTM), according to which every reproductive choice is permissible, except creating children whose lives will not be worth living. Hence, as long as the future child is likely to have a life worth (...) living, prospective parents may be allowed to use preimplantation genetic diagnosis (PGD) to select embryos with genetic diseases or disabilities. Assuming a consequentialist person‐affecting view of morality, this paper investigates whether the MTM is an appropriate tool to guide procreative decisions given the continuous development of reproductive genetic technologies. In particular, I consider germline genome editing (GGE) and I argue that its application in human reproduction, unlike PGD, should be conceived as person‐affecting towards future progeny. I claim that even if we assume the plausibility of the MTM within PGD, we are committed to accepting that a greater moral obligation towards progeny should guide procreative decisions if GGE were available. In this case, the MTM should no longer be considered an appropriate instrument to guide procreative choices. Finally, I investigate when we face this greater moral obligation, concluding that it applies only when prospective parents have already engaged in the in vitro fertilization process. (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)

This paper examines the chromosomal profile of Eucharistic miracles that have undergone scientific analysis and reveals a startling anomaly: the consistent presence of male human cardiac tissue with no detectable Y chromosome. Grounded in both forensic reports and theological doctrine, we propose that this anomaly is not a flaw, but a genetic echo of the Virgin Birth. If verified across multiple samples, this silence of the Y chromosome constitutes a biological signature of divine origin, aligning Eucharistic theology with modern genetics. (...) We call for the Church to reopen the scrolls, retest the samples, and proclaim what the genome may already declare: This is My Body. This is My Father. (shrink)

In this article, I explore the ethical dimensions of same-sex reproduction achieved through epigenome editing—an innovative and transformative technique. For the first time, I analyse the potential normativity of this disruptive approach for reproductive purposes, focusing on its implications for lesbian couples seeking genetically related offspring. Epigenome editing offers a compelling solution to the complex ethical challenges posed by traditional gene editing, as it sidesteps genome modifications and potential long-term genetic consequences. The focus of this article is to systematically analyse (...) the bioethical issues related to the use of epigenome editing for same-sex reproduction. I critically assess the ethical acceptability of epigenome editing with reproductive purposes from multiple angles, considering harm perspectives, the comparison of ethical issues related to gene and epigenome editing, and feminist theories. This analysis reveals that epigenome editing emerges as an ethically acceptable means for lesbian couples to have genetically related children. Moreover, the experiments of a reproductive use of epigenome editing discussed in this article transcend bioethics, shedding light on the broader societal implications of same-sex reproduction. It challenges established notions of biological reproduction and prompts a reevaluation of how we define the human embryo, while poses some issues in the context of gender self-identification and family structures. In a world that increasingly values inclusivity and diversity, this article aims to reveal a progressive pathway for reproductive medicine and bioethics, as well as underscores the need for further philosophical research in this emerging and fertile domain. (shrink)

Personalized genomics companies (PG; also called ‘direct-to-consumer genetics’) are businesses marketing genetic testing to consumers over the Internet. While much has been written about these new businesses, little attention has been given to their roles in science communication. This paper provides an analysis of the gene concept presented to customers and the relation between the information given and the science behind PG. Two quite different gene concepts are present in company rhetoric, but only one features in the science. To (...) explain this, we must appreciate the delicate tension between PG, academic science, public expectation, and market forces. (shrink)

Volume 19, Issue 7, July 2019, Page 39-40.

The Planteome project provides a suite of reference and species-specific ontologies for plants and annotations to genes and phenotypes. Ontologies serve as common standards for semantic integration of a large and growing corpus of plant genomics, phenomics and genetics data. The reference ontologies include the Plant Ontology, Plant Trait Ontology, and the Plant Experimental Conditions Ontology developed by the Planteome project, along with the Gene Ontology, Chemical Entities of Biological Interest, Phenotype and Attribute Ontology, and others. The project also (...) provides access to species-specific Crop Ontologies developed by various plant breeding and research communities from around the world. We provide integrated data on plant traits, phenotypes, and gene function and expression from 95 plant taxa, annotated with reference ontology terms. (shrink)

On June 26, 2000, President Clinton, together with Francis Collins and Craig Venter, solemnly announced, from the East Room of the White House, that the grand effort to sequence the human genome, the Human Genome Project (HGP), was rapidly nearing its completion. Symbolism abounded. The event was framed as a crucial marker in the history of both humanity and knowledge by explicitly connecting the completion of the HGP with a number of already acknowledged and established scientific highlights. Tensions abounded as (...) well, however, notably between competing metaphors. In the course of the HGP, metaphors had become crucially important in framing and conveying what the HGP was really about. They had proved themselves to be of key importance when it came to defining and explaining the project’s significance for both science and society. Powerful images and metaphors had been deployed in order to secure unprecedented amounts of funding, on the one hand by comparing the HGP to other big technoscientific projects such as space travel, high energy physics, the atomic bomb and a territorial mapping exercise, and on the other hand through the suggestion that, once we have our “blueprint”, “code of codes”, “parts list”, etc. available, cancer genes will no longer have a place to hide. This article sets out to analyze this clash of metaphors, firmly embedded within the HGP but culminating at the press conference, arguing that the June 2000 event is even reminiscent of a somewhat similar event, depicted by a famous altarpiece, ‘The adoration of the Lamb’, on display in Ghent Cathedral and finished more than five centuries before. (shrink)

Targeted modifications of the human epigenome, epigenome editing (EE), are around the corner. For EE, techniques similar to genome editing (GE) techniques are used. While in GE the genetic information is changed by directly modifying DNA, intervening in the epigenome requires modifying the configuration of DNA, for example, how it is folded. This does not come with alterations in the base sequence (‘genetic code’). To date, there is almost no ethical debate about EE, whereas the discussions about GE are voluminous. (...) Our article introduces EE into bioethics by translating knowledge from science to ethics and by comparing the risks of EE with those of GE. We, first (I), make the case that a broader ethical debate on EE is due, provide scientific background on EE, compile potential use-cases and recap previous debates. We then (II) compare EE and GE and suggest that the severity of risks of novel gene technologies depends on three factors: (i) the choice of an ex vivo versus an in vivo editing approach, (ii) the time of intervention and intervention windows and (iii) the targeted diseases. Moreover, we show why germline EE is not effective and reject the position of strong epigenetic determinism. We conclude that EE is not always ethically preferable to GE in terms of risks, and end with suggestions for next steps in the current ethical debate on EE by briefly introducing ethical challenges of new areas of preventive applications of EE (III). (shrink)

This paper addresses the cultural impact of genomics and the Human Genome Project on human self-understanding. Notably, it addresses the claim made by Francis Collins that the genome is the language of God and the claim made by Max Delbrück that Aristotle must be credited with having predicted DNA as the soul that organises bio-matter. From a continental philosophical perspective I will argue that human existence results from a dialectical interaction between two types of texts: the language of molecular (...) biology and the language of civilisation; the language of the genome and the language of our socio-cultural, symbolic ambiance. Whereas the former ultimately builds on the alphabets of genes and nucleotides, the latter is informed by primordial texts such as the Bible and the Quran. In applied bioethics deliberations on genomics, science is easily framed as liberating and progressive, religious world-views as conservative an... (shrink)

Everyone in biology keeps predicting that the next few years will bring answers to some of the major open questions in evolutionary biology, but there seems to be disagreement on what, exactly, those questions are. Enthusiasts of the various “-omics” (genomics, proteomics, transcriptomics, metabolomics, and even phenomics) believe, as Michael Lynch puts it in the final chapter of The Origins of Genome Architecture, that “we can be confident of two things: the basic theoretical machinery for understanding the evolutionary process (...) is well established, and we will soon be effectively unlimited by the availability of information at the DNA level.”. (shrink)

Abstract -/- Recent advancements in genomic AI, exemplified by models such as Evo, have demonstrated remarkable capabilities in interpreting and generating DNA, RNA, and protein sequences. However, these models primarily optimize computational accuracy without considering broader systemic, ecological, or ethical impacts. This paper proposes a novel conceptual framework—Evo+Universal AI—which integrates the genomic modeling strengths of Evo with Angelito Malicse’s Three Universal Laws: the Law of Karma, the Universal Law of Balance, and the Universal Feedback Loop Mechanism. This integration enables AI (...) systems to operate not only with high accuracy but also with systemic integrity, ecological balance, and holistic feedback, bridging genomic science with universal principles. -/- . (shrink)

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

The advancement of genome sequencing technology and its potential application in newborn screening is being discussed in various countries. Genomic newborn screening (gNBS) can provide parents with information about their child's genetic susceptibility for known disorders. However, it also presents ethical and psychosocial challenges. This study was carried out with a view toward the possible introduction of gNBS in Germany. Due to the existing challenges, it is crucial to understand different perspectives of relevant groups in Germany before implementing gNBS. Four (...) online focus groups were conducted with parents, patient representatives, and healthcare professionals to explore perceived opportunities and challenges, as well as needs regarding a potential gNBS program. Discussions with altogether 24 participants were semi-structured using a pre-defined interview guide. Sessions were audio-visually recorded and transcripts were analyzed using a structuring qualitative content analysis combining both deductive and inductive methods. Participants expressed positive views about gNBS but also reservations about a gNBS program and posed requirements for operating conditions. One salient theme that emerged was hope for certainty through gNBS in the face of numerous uncertainties. The study complements the perspective of patient representatives, providing further insight into the subject matter. This is a valuable contribution as they possess a comprehensive understanding of the medical, psychological, and ethical considerations involved. Patient representatives placed particular emphasis on the advantages of avoiding a diagnostic odyssey and the significance of support systems. The results provide first insights into different views on gNBS in Germany. These views can inform the potential preparation of a gNBS program in Germany, particularly with regard to information and consent requirements. Implications for practice, such as informing and educating parents about gNBS during pregnancy, can be derived from the study. WHAT IS KNOWN ABOUT THIS TOPIC: Previous studies have indicated that there is significant public and—more particularly parental—interest in genomic newborn screening (gNBS). However, discrepancies exist regarding preferences for the scope of reported results, including differences between the views of healthcare professionals, parents, and the public. WHAT THIS PAPER ADDS TO THE TOPIC: This study offers insights into various perspectives on the potential implementation of gNBS in Germany, highlighting divergent views of healthcare professionals and parents, while also introducing a novel and valuable contribution by including the viewpoints of patient representatives. (shrink)

Considering public moral attitudes is a hallmark of the anticipatory governance of emerging biotechnologies, such as heritable human genome editing. However, such anticipatory governance often overlooks that future morality is open to change and that future generations may perform different moral assessments on the very biotechnologies we are trying to govern in the present. In this article, we identify an ’anticipatory gap’ that has not been sufficiently addressed in the discussion on the public governance of heritable genome editing, namely, uncertainty (...) about the moral visions of future generations about the emerging applications that we are currently attempting to govern now. This paper motivates the relevance of this anticipatory gap, identifying the challenges it generates and offering various recommendations so that moral uncertainty does not lead to governance paralysis with regard to human germline genome editing. (shrink)

This article elaborates research participant perspectives on the communication of individual research results from genomic analyses. While most analyses focus on how to communicate results from the perspectives of clinicians or researchers, there is insufficient data on user perspectives and how this information may be used, valued, and interpreted by patients and their families. The concept of personal utility, which considers factors related to quality of life, including on how information may impact the person’s future decisions, has been shown to (...) be particularly relevant to understand research participant perspectives and to move beyond clinical and analytic utility factors such as mortality and morbidity. This article draws from qualitative research of research participants awaiting genomic results in the case of sudden cardiac death. Our results show perspectives of personal utility in communication of genomic results, including cognitive, behavioral, and affective outcomes. Cognitive outcomes include gain of information, improved knowledge of etiology and inheritance characteristics, and curiosity for what might be found. Behavioral outcomes include being able to plan life decisions, while affective outcomes include various coping strategies used. We will also discuss the value of knowing negative results and incidental findings from the research participant’s perspective. This contribution gives suggestions on best practices to guide genome analysis returns, including incorporating participant wishes on individualized communication at the consent stage; developing relational autonomy approaches; and engaging them throughout the research trajectory. (shrink)

Abstract: This working paper focuses on the question whether there is a therapeutic imperative that, in specific situations, would oblige us to perform genome editing at the germline level in the context of assisted reproduction. The answer to this central question is discussed primarily with reference to specific scenarios where preimplantation genetic diagnosis (PGD) does not represent an acceptable alternative to germline genome editing based on either medical, or ethical, or – from the perspective of the potential parents – moral (...) or religious grounds. This article deals with four different types of case constellations that result from these possible reasons against PGD as well as from the necessity or dispensability of a subsequent “control PGD.” These cases are discussed based on hypotheses concerning contextual factors and theoretical assumptions. In conclusion, we point out that if our assumptions are correct, there is probably no therapeutic imperative for genome editing at the germline level. We draw this rationale from the fact that germline interventions are likely not person-affecting. However, we caution the reader that our result is preliminary and needs to be more carefully examined in future work in light of the bioethical debate and potential objections. -/- // Abstract: Im Zentrum dieses Working Papers steht die Frage, ob es einen therapeutischen Imperativ geben kann, der uns, in bestimmten Situationen, verpflichten würde, eine Genomeditierung (genome editing) auf Keimbahnebene im Rahmen der assistierten Befruchtung vorzunehmen. Die Antwort auf diese zentrale Frage wird insbesondere mit Bezug auf Fälle diskutiert, in denen das Verfahren der Präimplantationsdiagnostik (PID) keine aus entweder medizinischen oder ethischen oder – aus Sicht der potentiellen Eltern – moralischen bzw. religiösen Gründen akzeptable Alternative zu einem Keimbahneingriff darstellt. Die möglichen Gründe gegen die PID sowie die Erforderlichkeit oder Verzichtbarkeit einer nachfolgenden «Kontroll-PID» ergeben vier verschiedene Fallkonstellationen, denen sich der Beitrag zuwendet. Auf Grundlage von Hypothesen zu kontextuellen Faktoren und theoretischen Annahmen diskutieren wir diese Fälle. Im Ergebnis verweisen wir darauf, dass es, wenn unsere Annahmen zutreffen, vermutlich keinen therapeutischen Imperativ zum genome editing auf Keimbahnebene gibt. Dies begründet sich daraus, dass der Keimbahneingriff vermutlich nicht als personenbezogen (person-affecting) zu bezeichnen ist. Wir weisen jedoch darauf hin, dass unser Ergebnis vorläufig ist und unter Berücksichtigung der bioethischen Debatte und möglicher Einwände genauer geprüft werden muss. -/- // Résumé: Ce Working Paper se concentre sur la question de l’existence d’un impératif thérapeutique qui, dans des situations spécifiques, nous obligerait à réaliser une édition du génome au niveau de la lignée germinale dans le cadre de la procréation assistée. Afin de répondre à cette question centrale nous développons quatre scénarios spécifiques dans lesquels le diagnostic préimplantatoire (DPI) ne représente pas une alternative acceptable à l’édition du génome germinal pour des raisons médicales, éthiques ou – du point de vue des futurs parents – morales ou religieuses. Cet article traite de quatre constellations différentes de cas résultant des raisons mises en avant pour s'opposer au DPI ainsi que de la nécessité ou de l’inutilité d’un ultérieur « DPI de contrôle » Ces cas sont discutés sur la base d’hypothèses portant sur les facteurs contextuels et sur les présupposés théoriques. En conclusion, nous soulignons que si nos hypothèses sont correctes, il n’y a probablement aucun impératif thérapeutique justifiant l’édition du génome au niveau de la lignée germinale. Nous arrivons à cette conclusion parce qu’une intervention au niveau de la lignée germinale n’est probablement pas susceptible d’affecter la personne. Cependant, nous mettons en garde le lecteur sur le fait que notre conclusion est préliminaire et qu’elle doit être examinée avec soin dans des futurs travaux instruits par le débat bioéthique et par les éventuelles objections. (shrink)

Rohwer & Marris claim that “many conservation biologists” believe that there is a prima facie duty to preserve the genetic integrity of species. (A prima facie duty is a necessary pro tanto moral reason.) They describe three possible arguments for that belief and reject them all. They conclude that the biologists they cite are mistaken, and that there is no such duty: duties to preserve genetic integrity are merely instrumental: we ought act to preserve genetic integrity only because doing so (...) is required by some other duty, such as the duty to preserve taxonomic biodiversity, or the duty to preserve the reproductive fitness of existing species. In permitting for instance the introgression of cattle genes into the genome of Bison bison we therefore do not necessarily fail in any respect ethically. I criticize the paper on three fronts. (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)

Excerpt: 1. Introduction This chapter provides insight into the diverse ethical debates on genetics and epigenetics. Much controversy surrounds debates about intervening into the germline genome of human embryos, with catchwords such as genome editing, designer baby, and CRISPR/Cas. The idea that it is possible to design a child according to one’s personal preferences is, however, a quite distorted view of what is actually possible with new gene technologies and gene therapies. These are much more limited than the editing and (...) design metaphors suggest. Such metaphors are therefore highly problematic phrases in the context of new gene technologies, for two reasons. On one hand, to design a child of choice by modifying the genome would require modifying any gene of choice, which is more than can be done with current gene technologies, such as CRISPR/Cas. On the other hand, a modification of genes would need to be enough to create any characteristic of choice in the future child. The latter presupposes the assumption of genetic determinism. Moreover, the CRISPR/Cas technology can not only be used in a potentially therapeutic manner at the germline level. In addition, there is the (more likely) scenario of a future clinical therapeutic use of these new gene technologies for modifying the DNA sequence of other cells of the body (somatic genome editing). There is also the option of modifying the epigenome, that is, the spatial configuration of DNA (epigenome editing) (see table 1). Like genetics and genome editing, epigenetics has been at the center of recent popular scientific and ethical discourse as well as scientific debates. The concept of epigenetics has given rise to very different notions of inheritability and responsibility for health, which, however, are oftentimes based on scientifically controversial basic assumptions. That there continues to be covert genetic determinism in the form of epigenetic determinism (see table 2) in debates about epigenetics has been pointed out in ethical analyses of epigenetics. Neither genetic determinism nor epigenetic determinism has been confirmed scientifically. It is therefore important to recognize the concepts that are discussed (and sometimes harshly criticized) in debates about genome editing and epigenetics—for example, concepts about the causal role of DNA for our own life course. This importance is based on the fact that if we understand such controversial concepts, we will be able to remain critical when evaluating scientific knowledge and ethical arguments about genome editing and epigenetics. This chapter, therefore, explains some of these concepts. For an ethical analysis of epigenetics as well as of genome editing, it is necessary to understand and critically reflect upon the underlying concepts of genetic determinism and other, related -isms. The following section offers a detailed introduction to these -isms (section 2; see also table 2). Section 3 provides an ethical analysis of genome editing and epigenetics based on the explanations in section 2. Section 3 focuses on inheritability and responsibility, justice, safety, the problem of consent, and the effects of genome editing and epigenetics on embryos and future generations. This section does not discuss in detail further points that can be found in ethical debates about epigenetics as well as in ethical debates about genome editing. These points include (among others): • fear that the findings of epigenetics and that the methods of genome editing are misused—this also with respect to eugenics and enhancement; • naturalness—an issue we mention in passing a few times in the following analysis; • a possible connection between the genome/epigenome and the concept of human dignity, and the derived danger of instrumentalization and infringement of autonomy when intervening in the genome or epigenome. Since current discourse about ethical issues associated with genome editing focuses mainly on germline interventions, which are, for instance, interventions into a human embryo’s genome, we mainly focus on germline interventions when comparing the debates on genome editing and on epigenetics in section 3. (shrink)

The Human Genome Project is regarded by many as one of the major scientific achievements in recent science history, a large-scale endeavour that is changing the way in which biomedical research is done and expected, moreover, to yield considerable benefit for society. Thus, since the completion of the human genome sequencing effort, a debate has emerged over the question whether this effort merits to be awarded a Nobel Prize and if so, who should be the one to receive it, as (...) no more than three individuals can be selected. In this article, the HGP is taken as a case study to consider the ethical question to what extent it is still possible, in an era of big science, of large-scale consortia and global team work, to acknowledge and reward individual contributions to important breakthroughs in biomedical fields. Is it still viable to single out individuals for their decisive contributions in order to reward them in a fair and convincing way? Whereas the concept of the Nobel prize as such seems to reflect an archetypical view of scientists as solitary researchers who, at a certain point in their careers, make their one decisive discovery, this vision has proven to be problematic from the very outset. Already during the first decade of the Nobel era, Ivan Pavlov was denied the Prize several times before finally receiving it, on the basis of the argument that he had been active as a research manager rather than as a researcher himself. The question then is whether, in the case of the HGP, a research effort that involved the contributions of hundreds or even thousands of researchers worldwide, it is still possible to “individualise” the Prize? The “HGP Nobel Prize problem” is regarded as an exemplary issue in current research ethics, highlighting a number of quandaries and trends involved in contemporary life science research practices more broadly. (shrink)

From 1900 onwards, scientists and novelists have explored the contours of a future society based on the use of “anthropotechnologies” (techniques applicable to human beings for the purpose of performance enhancement ranging from training and education to genome-based biotechnologies). Gradually but steadily, the technologies involved migrated from (science) fiction into scholarly publications, and from “utopia” (or “dystopia”) into science. Building on seminal ideas borrowed from Nietzsche, Peter Sloterdijk has outlined the challenges inherent in this development. Since time immemorial, and at (...) least since the days of Plato’s Academy, human beings have been interested in possibilities for (physical or mental) performance enhancement. We are constantly trying to improve ourselves, both collectively and individually, for better or for worse. At present, however, new genomics-based technologies are opening up new avenues for self-amelioration. Developments in research facilities using animal models may to a certain extent be seen as expeditions into our own future. Are we able to address the bioethical and biopolitical issues awaiting us? After analyzing and assessing Sloterdijk’s views, attention will shift to a concrete domain of application, namely sport genomics. For various reasons, top athletes are likely to play the role of genomics pioneers by using personalized genomics information to adjust diet, life-style, training schedules and doping intake to the strengths and weaknesses of their personalized genome information. Thus, sport genomics may be regarded as a test bed where the contours of genomics-based self-management are tried out. (shrink)

In English, the Medieval philosophers on the genome. ISBN 978 84 686 6263 3 Bubok Publishing S.L., 2015.

WHO in 2019 established the Advisory Committee on Developing Global Standards for Governance and Oversight of Human Genome Editing, which has recently published a Draft Governance Framework on Human Genome Editing. Although the Draft Framework is a good point of departure, there are four areas of concern: first, it does not sufficiently address issues related to establishing safety and efficacy. Second, issues that are a source of tension between global standard setting and state sovereignty need to be addressed in a (...) more nuanced fashion. Third, it fails to meaningfully engage with the extent to which the conceptualisation of human dignity may justifiably vary between jurisdictions. Fourth, the meaning of harm to the interests of a future person requires clarity. Provided these four areas of concern can be addressed, the future of the global governance of human genome editing may hold promise. (shrink)