In lieu of an abstract, here is a brief excerpt of the content:Kennedy Institute of Ethics Journal 14.1 (2004) 47-54 [Access article in PDF] Ethical Guidelines for Human Embryonic Stem Cell Research*(A Recommended Manuscript) Adopted on 16 October 2001Revised on 20 August 2002 Ethics Committee of the Chinese National Human Genome Center at Shanghai, Shanghai 201203 Human embryonic stem cell (ES) research is a great project in the frontier of biomedical science for the twenty-first century. Be- cause the research involves (...) the use of human embryos, it triggers serious debate on ethical issues. Opponents consider the embryo to be an early form of human life that should be respected and not destroyed. However, the majority of scientists support embryonic stem cell research, believing that it offers good prospects for the treatment of diseases that have remained incurable until now and so will benefit humankind. The Ethics Committee of the Department of Ethical, Legal, and Social Implications of the Chinese National Human Genome Center at Shanghai seriously discussed the ethical debate initiated by embryonic stem cell research. We concluded that we should support the scientists of our country in actively carrying out human embryonic stem cell research for the noble cause of "medicine being a beneficent art." For the healthy and orderly development of human embryonic stem cell research in our country, we put forward the following recommended Ethical Guidelines for Human Embryonic Stem Cell Research as a reference for leaders, administrative departments, and related scientists. Preface Article 1. Human embryonic stem cells are the primitive cells that play the main role in the growth and development of a human body. These [End Page 47] primitive cells have the potential for infinite proliferation, self-renewal, and multi-directional differentiation. If scientists can discover the mechanism of differentiation of human embryonic stem cells, it will be possible to induce differentiation of human embryonic stem cells to form various types of human cells for clinical cell therapy. If human embryonic stem cell research can be integrated with modern biomedical engineering techniques, it also will be possible to make repair and replacement of human tissues and organs a reality. Article 2. There are two ways to classify human embryonic stem cells. One way is to classify them according to their potential for differentiation. There could be three kinds of stem cells: totipotent stem cells, pluripotent stem cells, and unipotent stem cells.A totipotent stem cell has the potential to develop into a whole individual. It can differentiate into the more than 200 cell types in the whole body, construct any tissue or organ of the body, and finally develop into a whole individual. The fertilized egg and the cleavage cells at the very early stage of embryonic development are totipotent stem cells.A pluripotent stem cell has the potential to differentiate into many cell types derived from the three embryonic layers. However, it has lost the capacity to develop into a complete organism.A unipotent stem cell is derived from the further differentiation of the pluripotent stem cell. It can differentiate only into one cell type such as a hematopoietic stem cell, neural stem cell, and others.The other way is to classify human stem cells according to their source. There could be two kinds of human stem cells: embryonic stem cells and tissue stem cells (also called adult stem cells). The former involves experimentation with embryos, which has serious ethical implications. Ethical issues associated with the latter are mainly expressed in the various opinions regarding the allocation of health resources. Article 3. Human embryonic stem cells are the group of cells called the blastocyst inner cell mass during the early stage of embryonic development. They are the main source of totipotent stem cells, and hence the focal and hot point in stem cell research. Studies on the clinical application of embryonic stem cells probably will involve use of the somatic cell nucleus transfer (SCNT) technique, which destroys the early human embryo. At present, the ethical and moral debate is very serious in human embryonic stem cell research regarding whether the research will develop... (shrink)

Background The rise in genomic and biobanking research worldwide has led to the development of different informed consent models for use in such research. This study analyses consent documents used by investigators in the H3Africa (Human Heredity and Health in Africa) Consortium. Methods A qualitative method for text analysis was used to analyse consent documents used in the collection of samples and data in H3Africa projects. Thematic domains included type of consent model, explanations of genetics/genomics, data sharing and feedback (...) of test results. Results Informed consent documents for 13 of the 19 H3Africa projects were analysed. Seven projects used broad consent, five projects used tiered consent and one used specific consent. Genetics was mostly explained in terms of inherited characteristics, heredity and health, genes and disease causation, or disease susceptibility. Only one project made provisions for the feedback of individual genetic results. Conclusion H3Africa research makes use of three consent models—specific, tiered and broad consent. We outlined different strategies used by H3Africa investigators to explain concepts in genomics to potential research participants. To further ensure that the decision to participate in genomic research is informed and meaningful, we recommend that innovative approaches to the informed consent process be developed, preferably in consultation with research participants, research ethics committees and researchers in Africa. (shrink)

Direct-to-consumer (DTC) genetic services have generated enormous controversy from their first emergence. A dramatic recent manifestation of this is the Food and Drug Administration's (FDA) cease and desist order against 23andMe, the leading provider in the market. Critics have argued for the restrictive regulation of such services, and even their prohibition, on the grounds of the harm they pose to consumers. Their advocates, by contrast, defend them as a means of enhancing the autonomy of those same consumers. Autonomy emerges as (...) a key battle-field in this debate, because many of the ‘harm’ arguments can be interpreted as identifying threats to autonomy. This paper assesses whether DTC genomic services are a threat to, or instead, an enhancement of, personal autonomy. It deploys Joseph Raz's account of personal autonomy, with its emphasis on choice from a range of valuable options. It then seeks to counter claims that DTC genomics threatens autonomy because it involves manipulation in contravention of consumers’ independence or because it does not generate valuable options which can be meaningfully engaged with by consumers. It is stressed that the value of the options generated by DTC genomics should not be judged exclusively from the perspective of medical actionability, but should take into consideration plural utilities. Finally, the paper ends by broaching policy recommendations, suggesting that there is a strong autonomy-based argument for permitting DTC genomic services, and that the key question is the nature of the regulatory conditions under which they should be permitted. The discussion of autonomy in this paper helps illuminate some of these conditions. (shrink)

Recent molecular biology has seen the development of genomics as a successor to traditional genetics. This paper offers an overview of the structure, epistemology, and history of contemporary genomics. A particular focus is on the question to what extent the genome contains, or is composed of, anything that corresponds to traditional conceptions of genes. It is concluded that the only interpretation of genes that has much contemporary scientific relevance is what is described as the "developmental defect" gene concept. (...) However, developmental defect genes typically only correspond to general areas of the genome and not to precise chemical structures. The parts of the genome to be identified for an account of the processes of normal development are highly diverse, little correlated with traditional genes, and act in ways that are highly dependent on the cellular and higher level environment. Despite its historical development out of genetics, genomics represents a radically different kind of scientific project. (shrink)

Clinical practice and research are governed by distinct rules and regulations and have different approaches to, for example, consent and providing results. However, genomics is an example of where research and clinical practice have become codependent. The 100 000 genomes project (100kGP) is a hybrid venture where a person can obtain a clinical investigation only if he or she agrees to also participate in ongoing research—including research by industry and commercial companies. In this paper, which draws on 20 interviews (...) with professional stakeholders involved in 100kGP, we investigate the ethical issues raised by this project’s hybrid nature. While some interviewees thought the hybrid nature of 100kGP was its vanguard, interviewees identified several tensions around hybrid practice: how to decide who should be able to participate; how to determine whether offering results might unduly influence participation into wide-ranging but often as yet unknown research and how to ensure that patients/families do not develop false expectations about receiving results. These areas require further debate as 100kGP moves into routine healthcare in the form of the national genomic medicine service. To address the tensions identified, we explore the appropriateness of Faden et al.’s framework of ethical obligations for when research and clinical care are completely integrated. We also argue that enabling ongoing transparent and trustworthy communication between patients/families and professionals around the kinds of research that should be permitted in 100kGP will help to understand and ensure that expectations remain realistic. Our paper aims to encourage a focused discussion about these issues and to inform a new ‘social contract’ for research and clinical care in the health service. (shrink)

Health care is transitioning from genetics to genomics, in which single-gene testing for diagnosis is being replaced by multi-gene panels, genome-wide sequencing, and other multi-genic tests for disease diagnosis, prediction, prognosis, and treatment. This health care transition is spurring a new set of increased or novel liability risks for health care providers and test laboratories. This article describes this transition in both medical care and liability, and addresses 11 areas of potential increased or novel liability risk, offering recommendations to (...) both health care and legal actors to address and manage those liability risks. (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)

BackgroundGenetics and genomics research (GGR) is increasingly being conducted around the world; yet, researchers and research oversight entities in many countries have struggled with ethical challenges. A range of ethics and regulatory issues need to be addressed through comprehensive policy frameworks that integrate with local environments. While important efforts have been made to enhance understanding and awareness of ethical dimensions of GGR in Africa, including through the H3Africa initiative, there remains a need for in-depth policy review, at a country-level, (...) to inform and stimulate local policy development and revision on the continent.MethodsTo identify and characterize existing ethics-related guidelines and laws applicable to GGR across much of Africa, we conducted a scoping review of English language policy documents identified through databases, repositories, and web searches. Thirty-six documents were included and coded using a framework that contained a range of themes across five analytical categories: (1) respect, (2) beneficence, (3) justice, (4) independent oversight, and (5) bans and prohibitions. Data analysis software (NVivo 12) was used to organize, code, and tabulate information according to document characteristics and topics. Illustrative examples of policy requirements were selected for inclusion.ResultsDocuments that met inclusion criteria spanned 20 years; published between 1996 and 2018, with the majority (58%) published after 2009. About two-thirds were denoted as “guidelines,” and slightly more than half were non-exclusive to GGR. Very few (six) country-level documents identified were specific to GGR. Requirements related to the principle of “respect” appeared most often across all documents, relative to other principles and processes. The most commonly stated ban was on reproductive cloning. Other prohibitions applied to germline editing, undue inducements in research, sample use for commercial purposes, employee mandatory DNA testing, fetal sex selection, stem cell use, eugenics, and research without public health benefits.ConclusionsEnforceable policies that are indispensable to the ethical conduct and review of GGR are either deficient or missing in many African countries. Existing international, GGR-specific ethics guidelines can be used to inform GGR policy development at a country-level, in conjunction with insight from country specific ethics committees and other local stakeholders. (shrink)

Direct-to-Consumer genomics has been a controversial topic for over a decade. Much work has been done on the legal issues it raises. This article asks a different question: What will DTC genomics and its legal issues look like in ten to twenty years? After discussing the five current uses of DTC genomics, it describes three current legal issues: medical uses, privacy of genomic information, and privacy in collection and analysis of human DNA. It then suggests that changes (...) in human genomics and how it is used will make the first of those DTC genomics legal issues less important in the future, but that the third will be increasingly significant. (shrink)

Shiao, Bode, Beyer, and Selvig argue that the theory of race as a social construct should be revisited in light of recent genetic research, which they interpret as demonstrating that human biological variation is patterned in “clinal classes” that are homologous to races. In this reply, I examine both their claims and the genetics literature they cite, concluding that not only does constructivist theory already accommodate the contemporary study of human biology, but few geneticists portray their work as bearing on (...) race. Equally important, methods for statistically identifying DNA-based clusters within the human species are shaped by several design features that offer opportunities for the incorporation of cultural assumptions about difference. As a result, Shiao et al.’s theoretical distinction between social race and biological “clinal class” is empirically jeopardized by the fact that even our best attempts at objectively recording “natural” human groupings are socially conditioned. (shrink)

In this paper, I interrogate an ethical obligation to participate in genomics research on the basis of solidarity. I explore two different ways in which solidarity is used to motivate participation in genomics research: as an appeal to participate in genomic research because it cultivates solidarity and as an appeal to participate in genomic research because it expresses solidarity. I critique those appeals and draw lessons from them for how we ought to understand solidarity. The working definition of (...) solidarity that I defend is that solidarity involves recognizing another creature, person, or persons as, like ourselves, vulnerable to injustice and entails acting in ways that contribute to creating, reforming, and participating in institutions that are aimed at enhancing their flourishing. I argue that participating in genomics research is not an expression of solidarity. Participation in research may be praiseworthy, a “good thing to do,” but actually cultivating and expressing solidarity requires much more of us. (shrink)

Educational genomics is an emerging field of research that analyses associations between vast samples of human DNA and educational outcomes. I trace how this field navigates a series of old and new methodological problems and political controversies, while attempting to distance itself from the elitist, eugenic, and racist history of genetics in education. Moving away from genetic determinism, its multidisciplinary approach embeds knowledge from the social sciences selectively. In particular, I highlight how microeconomic methodologies and concepts have become salient (...) not only in educational genomic explanations and hypotheses but also in scientists’ political understanding of ‘equality’, reframing past political debates and reimagining governance applications of genetic knowledge. While controversies on the biologisation of social hierarchies persist, the associated debates on human difference, now framed around producing educational ‘equality’, are premised on educational genomics’ contribution to predicting, valuing, and enhancing social human capital. (shrink)

BackgroundA key ethical question in genomics research relates to whether individual genetic research results should be disclosed to research participants and if so, which results are to be disclosed, by whom and when. Whilst this issue has received only scarce attention in African bioethics discourse, the extension of genomics research to the African continent has brought it into sharp focus.MethodsIn this qualitative study, we examined the views of adolescents, parents and caregivers participating in a paediatric and adolescent HIV-TB (...) genomic study in Botswana on how solidarity and reciprocity obligations could guide decisions about feedback of individual genetic research results. Data were collected using deliberative focus group discussions and in-depth interviews.ResultsFindings from 93 participants demonstrated the importance of considering solidarity and reciprocity obligations in decisions about the return of individual genetic research results to participants. Participants viewed research participation as a mutual relationship and expressed that return of research results would be one way in which research participation could be reciprocated. They noted that when reciprocity obligations are respected, participants feel valued and not respecting reciprocity expectations could undermine participant trust and participation in future studies.ConclusionsWe conclude that expectations of solidarity and reciprocity could translate into an obligation to feedback selected individual genetic research results in African genomics research. (shrink)

Community engagement and participatory research have been appropriately employed to increase the relevance, rigor, and acceptability of all types of research, but these approaches may be particularly important in genomics and biomedical research on sensitive traits such as neurodevelopmental, psychiatric, and behavioral ones. Here, we provide an overview of past and ongoing efforts in community engagement in genomics studies and consider successes and opportunities for further improvement. Informed by this knowledge as well as one of the author's experiences, (...) we set out a vision for a more equitable and collaborative genomics where wider communities, including social, ethnic, and other communities that share a particular trait, are included in the research as peers and collaborators, not solely as objects of study. (shrink)

BackgroundCommunity engagement within biomedical research is broadly defined as a collaborative relationship between a research team and a group of individuals targeted for research. A Community Advisory Board is one mechanism of engaging the community. Within genomics research CABs may be particularly relevant due to the potential implications of research findings drawn from individual participants on the larger communities they represent. Within such research, CABs seek to meet instrumental goals such as protecting research participants and their community from research-related (...) risks, as well as intrinsic goals such as promoting the respect of participants and their community. However, successful community engagement depends on the degree to which CABs legitimately represent and engage with communities targeted for research. Currently, there is little literature describing the use of CABs in genomics research taking place in developing countries, and even less in the field of genomics research relating to mental illness. The aim of this article is to describe and consider the contributions made by a researcher-driven, population-specific CAB in a genomics of schizophrenia research project taking place in South Africa, from the perspective of the research team.DiscussionFour broad discussion topics emerged during the CAB meetings namely: 1) informed consent procedures, 2) recruitment strategies, 3) patient illness beliefs and stigma experiences, and 4) specific ethical concerns relating to the project. The authors consider these discussions in terms of their contributions to instrumental and intrinsic goals of community engagement.SummaryThe CAB gave valuable input on the consent processes and materials, recruitment strategies and suggested ways of minimizing the potential for stigma and discrimination. All of these contributions were of an instrumental nature, and helped improve the way in which the research took place. In addition, and perhaps more importantly, the CAB made a unique and important contribution relating to intrinsic functions such as promoting the respect and dignity of research participants and their community. This was particularly evident in ensuring sensitivity and respect of the community’s traditional beliefs about schizophrenia and its treatment, and in this way promoting a respectful relationship between the research team and the participants. (shrink)

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)

This chapter provides a philosophical overview of different approaches to age and aging. I challenge the belief that our age is always determined by the amount of time we have existed: chronology. I propose there are different views on age and aging. Biological age, which can be estimated based on epigenetics, might be more useful and important concept than chronological age. I suggest that sometimes some people should be allowed to change their legal age to reduce the harms that come (...) from unjust assumptions related to old age. Changing legal age could also be used to fight ageism, discrimination based on age. (shrink)

As genomic science has evolved, so have policy and practice debates about how to describe and evaluate the ways in which genomic information is treated for individuals, institutions, and society. The term genetic exceptionalism, describing the concept that genetic information is special or unique, and specifically different from other kinds of medical information, has been utilized widely, but often counterproductively in these debates. We offer genomic contextualism as a new term to frame the characteristics of genomic science in the debates. (...) Using stasis theory to draw out the important connection between definitional issues and resulting policies, we argue that the framework of genomic contextualism is better suited to evaluating genomics and its policy-relevant features to arrive at more productive discussion and resolve policy debates. (shrink)

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

Machine learning (ML) has been praised as a tool that can advance science and knowledge in radical ways. However, it is not clear exactly how radical are the novelties that ML generates. In this article, I argue that this question can only be answered contextually, because outputs generated by ML have to be evaluated on the basis of the theory of the science to which ML is applied. In particular, I analyze the problem of novelty of ML outputs in the (...) context of molecular biology. In order to do this, I first clarify the nature of the models generated by ML. Next, I distinguish three ways in which a model can be novel (from the weakest to the strongest). Third, I dissect the way ML algorithms work and generate models in molecular biology and genomics. On these bases, I argue that ML is either a tool to identify instances of knowledge already present and codified, or to generate models that are novel in a weak sense. The notable contribution of ML to scientific discovery in the context of biology is that it can aid humans in overcoming potential bias by exploring more systematically the space of possible hypotheses implied by a theory. (shrink)

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

We sympathize with many of the points Burt makes in challenging the value of genetics to advance our understanding of social science. Here, we discuss how recent reflections on epistemic validity in the behavioral sciences can further contribute to a reappraisal of the role of sociogenomics to explain and predict human traits, aptitudes, and achievement.

This paper presents results from a key informant survey exploring ethical, legal, and social issues (ELSI) as perceived by professionals working in the U.S.-based private sector human genomics industry. Drawing on a structured survey of 111 participants—including researchers, executives, policy leads, and communications specialists—this study examines how industry insiders assess emerging ethical concerns across domains such as data privacy, race and ancestry, sociogenomics, commercialization, and government partnerships. The survey instrument was developed based on a prior interview phase and reflects (...) concerns raised directly by professionals in the field. Quantitative responses were analysed for levels of concern and consensus, while open-text responses provided further insight into areas of divergence and organizational context. Respondents expressed high concern and consensus about lack of diversity in datasets, fragmented privacy regulation, and potential genomics collaborations with governments implicated in human rights abuses, though significant disagreement emerged around the appropriate use of race categories and socio-genomic applications. This preliminary exploration offers a glimpse into perspectives from a difficult sample population, and suggests entry points for future collaboration, policy, and critical scholarship. (shrink)

Psychiatric genomics research with African populations comes with a range of practical challenges around translation of psychiatric genomics research concepts, procedures, and nosology. These challenges raise deep ethical issues particularly around legitimacy of informed consent, a core foundation of research ethics. Through a consideration of the constitutive function of language, the paper problematises like‐for‐like, designative translations which often involve the ‘indigenization’ of English terms or use of metaphors which misrepresent the risks and benefits of research. This paper argues (...) that effective translation of psychiatric genomics research terminology in African contexts demands substantive engagement with African conceptual schemas and values. In developing attenuated forms of translational thinking, researchers may recognise the deeper motivational reasons behind participation in research, highlighting the possibility that such reasons may depart from the original meaning implied within informed consent forms. These translational issues might be ameliorated with a critical re‐examination of how researchers develop and present protocols to institutional ethics review boards. (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)

Cell line immortalisation is a growing component of African genomics research and biobanking. However, little is known about the factors influencing consent to cell line creation and immortalisation in African research settings. We contribute to addressing this gap by exploring three questions in a sample of Xhosa participants recruited for a South African psychiatric genomics study: First, what proportion of participants consented to cell line storage? Second, what were predictors of this consent? Third, what questions were raised by (...) participants during this consent process? 760 Xhose people with schizophrenia and 760 controls were matched to sex, age, level of education and recruitment region. We used descriptive statistics to determine the proportion of participants who consented to cell line creation and immortalization. Logistic regression methods were used to examine the predictors of consent. Reflections from study recruiters were elicited and discussed to identify key questions raised by participants about consent. Approximately 40% of participants consented to cell line storage. The recruiter who sought consent was a strong predictor of participant’s consent. Participants recruited from the South African Eastern Cape, and older participants, were more likely to consent; both these groups were more likely to hold traditional Xhosa values. Neither illness nor education were significant predictors of consent. Key questions raised by participants included two broad themes: clarification of what cell immortalisation means, and issues around individual and community benefit. These findings provide guidance on the proportion of participants likely to consent to cell line immortalisation in genomics research in Africa, and reinforce the important and influential role that study recruiters play during seeking of this consent. Our results reinforce the cultural and contextual factors underpinning consent choices, particularly around sharing and reciprocity. Finally, these results provide support for the growing literature challenging the stigmatizing perception that people with severe mental illness are overly vulnerable as a target group for heath research and specifically genomics studies. (shrink)

The UK Chief Medical Officer’s 2016 Annual Report, Generation Genome, focused on a vision to fully integrate genomics into all aspects of the UK’s National Health Service. This process of integration, which has now already begun, raises a wide range of social and ethical concerns, many of which were discussed in the final Chapter of the report. This paper explores how the UK’s 100,000 Genomes Project —the catalyst for Generation Genome, and for bringing genomics into the NHS—is negotiating (...) these ethical concerns. The UK’s 100 kGP, promoted and delivered by Genomics England Limited, is an innovative venture aiming to sequence 100,000 genomes from NHS patients who have a rare disease, cancer, or an infectious disease. GEL has emphasised the importance of ethical governance and decision-making. However, some sociological critique argues that biomedical/technological organisations presenting themselves as ‘ethical’ entities do not necessarily reflect a space within which moral thinking occurs. Rather, the ‘ethical work’ conducted by organisations is more strategic, relating to the politics of the organisation and the need to build public confidence. We set out to explore whether GEL’s ethical framework was reflective of this critique, and what this tells us more broadly about how genomics is being integrated into the NHS in response to the ethical and social concerns raised in Generation Genome. We do this by drawing on a series of 20 interviews with individuals associated with or working at GEL. (shrink)

The belief that genomics requires rethinking the ‘social contract’ to realize its potential has received backing from leading figures within bioethics. The case for a new social contract is anchored in notions of solidarity, altruism or the common good. But national genome sequencing is playing out against a backdrop of greatly increased involvement, and investment, of governments in their life science sectors – creating a sort of international race to drive innovation, stimulate growth, and create the most competitive life (...) science sectors. Recent developments in the UK suggest this agenda is detrimental to openness and transparency, as well as independent oversight, and meaningful public consultation. These aspects of governance, I argue, should be reconceived as part of the requirements of good governance. Further, a new social contract should involve a commitment by government, and industry, to educate the public about life science – and should be extended to life science more generally. (shrink)

The practice of making datasets publicly available for use by the wider scientific community has become firmly integrated in genomic science. One significant gap in literature around data sharing concerns how it impacts on scientists’ ability to preserve values and ethical standards that form an essential component of scientific collaborations. We conducted a qualitative sociological study examining the potential for harm to ethnic groups, and implications of such ethical concerns for data sharing. We focused our empirical work on the MalariaGEN (...) Consortium, one of the first international collaborative genomics research projects in Africa. (shrink)

In this article, we tackle the epistemological and ethical issues related to the use of race concepts in the genomics of sport performance and sport-related concussion (SRC). In the first part of the article, we show how the concept of race is ubiquitous in scientific literature, besides the fact that ‘race’ as other analogous population descriptors like ‘ancestry’ and ‘continent’ carry ancestral genetic heterogeneity and therefore they cannot be used to infer any kind of genetic or physiological property. Then, (...) we investigate the question of whether genomics research focusing on racial categories and race-specific genes of sport performance and of risk of health outcomes due to repetitive head impacts (RHI) is justified from an epistemological point of view, arguing that it is not; we show that the evidence supporting the existence of genetic variants determining an elite athlete status or a predisposition to health outcomes after SRC is scarce, and the use of racial categories (e.g. African or Black, Caucasian or White, Asian, etc.) as proxies for genetic variants associated with an elite athlete status/a predisposition to health outcomes after SRC is ill-conceived. In the second part of the article, we analyze the main ethical issues concerning the reification of race concepts in sport genomics, also considering the more general issue of the ethical and social impact of the use of a genetic framework in the explanation of individual differences in sport performance and SRC. (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)

An important issue raised in the article by Lee and Crawley (2009) is whether direct-to-consumer (DTC) genomics, specifically personal genome testing (PGT) should be considered research. The author...