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)

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)

We bring together recent discussions on data capitalism and biocapitalization by studying value flows in consumer genomics firms—an industry at the intersection between health care and technology realms. Consumer genomics companies market genomic testing services to consumers as a source of fun, altruism, belonging and knowledge. But by maintaining a multisided or platform business model, these firms also engage in digital capitalism, creating financial profit from data brokerage. This is a precarious balance to strike: If these companies’ business (...) models consist of assetizing the pool of genomic data that they assemble, then part of their work has to revolve around obscuring to consumers any uncertainties that would potentially impinge on these processes of assemblage. We reflect on the nature of these practices and the market relationships that enable them, and we relate this reflection to debates around alternative market arrangements that would potentially mitigate the extractive tendencies of these and other digital health firms. (shrink)

The timing of this special issue of AJOB probing whether public engagement (PE)1 might help achieve equity in genomics is no coincidence. While many issues discussed by the authors are not entirely...

Issues of balancing data accessibility with ethical considerations and governance of a genomics research biobank, Generation Scotland, are explored within the evolving policy landscape of the past ten years. During this time data sharing and open data access have become increasingly important topics in biomedical research. Decisions around data access are influenced by local arrangements for governance and practices such as linkage to health records, and the global through policies for biobanking and the sharing of data with large-scale biomedical (...) research data resources and consortia. We use a literature review of policy relevant documents which apply to the conduct of biobanks in two areas: support for open access and the protection of data subjects and researchers managing a bioresource. We present examples of decision making within a biobank based upon observations of the Generation Scotland Access Committee. We reflect upon how the drive towards open access raises ethical dilemmas for established biorepositories containing data and samples from human subjects. Despite much discussion in science policy literature about standardisation, the contextual aspects of biobanking are often overlooked. Using our engagement with GS we demonstrate the importance of local arrangements in the creation of a responsive ethical approach to biorepository governance. We argue that governance decisions regarding access to the biobank are intertwined with considerations about maintenance and viability at the local level. We show that in addition to the focus upon ever more universal and standardised practices, the local expertise gained in the management of such repositories must be supported. A commitment to open access in genomics research has found almost universal backing in science and health policy circles, but repositories of data and samples from human subjects may have to operate under managed access, to protect privacy, align with participant consent and ensure that the resource can be managed in a sustainable way. Data access committees need to be reflexive and flexible, to cope with changing technology and opportunities and threats from the wider data sharing environment. To understand these interactions also involves nurturing what is particular about the biobank in its local context. (shrink)

The use of broad consent for genomics research raises important ethical questions for the conduct of genomics research, including relating to its acceptability to research participants and comprehension of difficult scientific concepts. To explore these and other challenges, we conducted a study using qualitative methods with participants enrolled in an H3Africa Rheumatic Heart Disease genomics study in Zambia to explore their views on broad consent, sample and data sharing and secondary use. In-depth interviews were conducted with RHDGen (...) participants, study staff and with individuals who refused to participate. In general, broad consent was seen to be reasonable if reasons for storing the samples for future research use were disclosed. Some felt that broad consent should be restricted by specifying planned future studies and that secondary research should ideally relate to original disease for which samples were collected. A few participants felt that broad consent would delay the return of research results to participants. This study echoes findings in other similar studies in other parts of the continent that suggested that broad consent could be an acceptable consent model in Africa if careful thought is given to restrictions on re-use. (shrink)

Both bioethics and law have governed human genomics by distinguishing research from clinical practice. Yet the rise of translational genomics now makes this traditional dichotomy inadequate. This paper pioneers a new approach to the ethics of translational genomics. It maps the full range of ethical approaches needed, proposes a “layered” approach to determining the ethics framework for projects combining research and clinical care, and clarifies the key role that return of results can play in advancing translation.

Scientists and clinicians are starting to translate genomic discoveries from research labs to the clinical setting. In the process, big data genomic technologies are both a risk to individual privacy and a benefit to personalized medicine. There is an opportunity to address the social and ethical demands of various stakeholders and shape the adoption of diagnostic genome technologies. We discuss ethical and practical issues associated with the networking of genomics by comparing how the European Union and North America understand (...) and practice notions of privacy and consent in research. An overview of international policy suggests the embedding of genomics within digital networks and the Internet creates conditions that challenge the management of privacy and consent in the age of big data. The risks of re-identification, informational harms, and data security vulnerabilities are issues that need to be better addressed in the clinical setting to reconcile the unpredictable pathway of research and practice in the networked information society. (shrink)

Large-scale genetics cohort studies that link genotypic and phenotypic information hold special promise for clinical medicine, but they demand long-term investment and enduring trust from human research participants. Currently, there are a handful of large-scale studies that aim to succeed where others have failed, seeking to generate significant private-sector investment while preserving long-term interest and trust of studied communities. With project planners looking for new modes of managing such complex collective endeavors, the idea of using a charitable trust structure for (...) genomic biobanks has received increasing scholarly and policy attention. This article clarifies how thorny questions around property rights, the right to withdraw from research, access to materials, and funding might be handled within such a charitable trust structure to help produce a viable participatory framework for genomics. (shrink)

In much the same way that genomic technologies are changing the complexion of biomedical research, the issues they generate are changing the agenda of IRBs and research ethics. Many of the biggest challenges facing traditional research ethics today — privacy and confidentiality of research subjects; ownership, control, and sharing of research data; return of results and incidental findings; the relevance of group interests and harms; the scope of informed consent; and the relative importance of the therapeutic misconception — have become (...) important policy issues over the last 20 years because of the ways they have been magnified by genomic research efforts. Research that examines the ethical, legal, and social implications of human genomics research has become a burgeoning international field of scholarship over the last 20 years, thanks in part to its support first by the genome research funding bodies in the U.S. and then by national science agencies in other countries. (shrink)

At one time, specialized health privacy laws represented the bulk of the rules regulating genetic privacy, Today, however, as both the field of genomics and the content of privacy law change rapidly, a new generation of general-purpose privacy laws may impose new restrictions on collection, storage, and disclosure of genetic data. This article surveys these laws and considers implications.

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 digital revolution has disruptively reshaped the way health services are provided and how research is conducted. This transformation has produced novel ethical challenges. The digitalization of...

We track and analyze the re-situation of scientific knowledge in the field of human population genomics ancestry studies. We understand re-situation as a process of accommodating the direct or indirect transfer of objects of knowledge from one site/situation to other sites/situations. Our take on the concept borrows from Mary S. Morgan’s work on facts traveling while expanding it to include other objects of knowledge such as models, data, software, findings, and visualizations. We structure a specific case study by tracking (...) the re-situation of these objects between three research projects studying human population diversity reported in three articles in Science, Genome Research and PLoS Genetics between 2002 and 2005. We characterize these three engagements as a unit of analysis, a “skirmish,” in order to compare: the divergence of interests in how life-scientists answer similar research questions and to track the challenging transformation of workflows in research laboratories as these scientific objects are re-situated individually or in bundles. Our analysis of the case study shows that an accurate understanding of re-situation requires tracking the whole bundle of objects in a project because they interact in particular key ways. The absence or dismissal of these interactions opens the door to unforeseen trade-offs, misunderstandings and misrepresentations about research design and workflow and what these say about the questions asked and the findings produced. (shrink)

_Genetic Transparency?_ tackles the question of who has, or should have access to personal genomic information. Genomics experts and scholars from the humanities and social sciences discuss the changes in interpersonal relationships, human self-understandings, ethics, law, and the health systems.

Homology has been one of, if not the most, fecund concepts which has been used towards the understanding of the genomes of the model organisms. The evidence for this claim can be supported best with an examination of current research in comparative genomics. In comparative genomics, the information of genes or segments of the genome, and their location and sequence, are used to search for genes similar to them, known as 'homologues'. Homologues can be either within that same (...) organism (paralogues), or among different species (orthologues). The importance in finding homologous genes within organisms or across species is that these similarities indicate the possibility of ascribing functions, mechanisms or structures which are required by a variety of species which present the same homology. The interest in structures and functions of genes and proteins common to multiple species is one of the main foci of comparative genomics. Because of this, research into the conservation of genes has been the basis of comparison with regards to homologous genes among diverse organisms. Different causal processes are involved in genetic pathways and mechanisms. Explanations of these depend upon which pathway, structure or mechanism is picked out. Each process has a different causal network to which different explanations refer. What comparative genomics explains are the different causal mechanisms which occur in processes such as differentiation, protein synthesis, and gene regulation. How these processes interact within the organism can only be understood when compared with organisms which possess homologous genes, gene sequences, similar developmental mechanisms, or those whose mechanisms for gene regulation are similar. Explanations which result from comparative genomics contribute to a more comprehensive understanding of both the complex structures and the diverse functions within the genomes of different organisms. There are two related problems which have plagued attempts to define the concept of homology. The first problem arises in clarifying what kind of similarity is involved in a homological comparison. A second problem occurs if more than one concept of homology is needed to pick out the kinds of similarity in different contexts of homological comparison. Homology is usually understood as picking out what counts as 'the same' between two or more organisms. Many of the attempts which have been made to define the concept of homology focus on which criteria are used to restrict the kinds of similarity which exist between two or more organisms or parts being compared. These are criteria which can be used reliably to infer shared ancestry. However, there have been many different attempts to define similarity which have produced a profusion of homology concepts. This profusion has led both to the conflation of what counts as 'the same' in different contexts and has also muddled the relations of comparison which various concepts use to identify homologues. (shrink)

It is important to understand the science underlying philosophical debates. In particular, careful reflection is needed on the scientific study of the origins of Homo sapiens, the division of current human populations into ethnicities, populations, or races, and the potential impact of genomics on personalized medicine. Genomic approaches to the origins and divisions of our species are among the most multi-dimensional areas of contemporary science, combining mathematical modeling, computer science, medicine, bioethics, and philosophy of biology. The best evidence suggests (...) that we are a young species, with a cradle in Africa. While prejudice, misunderstanding, and violence grow in many corners of the world, our best genomic science suggests a deep biological connection among all peoples. (shrink)

Nutrigenomics is the study of how constituents of the diet interact with genes, and their products, to alter phenotype and, conversely, how genes and their products metabolise these constituents into nutrients, antinutrients, and bioactive compounds. Results from molecular and genetic epidemiological studies indicate that dietary unbalance can alter gene–nutrient interactions in ways that increase the risk of developing chronic disease. The interplay of human genetic variation and environmental factors will make identifying causative genes and nutrients a formidable, but not intractable, (...) challenge. We provide specific recommendations for how to best meet this challenge and discuss the need for new methodologies and the use of comprehensive analyses of nutrient–genotype interactions involving large and diverse populations. The objective of the present paper is to stimulate discourse and collaboration among nutrigenomic researchers and stakeholders, a process that will lead to an increase in global health and wellness by reducing health disparities in developed and developing countries. (shrink)

Period homeostasis is the defining characteristic of a biological clock. Strict period homeostasis is found for the ultradian clocks of eukaryotic microbes. In addition to being temperature-compensated, the period of these rhythms is unaffected by differences in nutrient composition or changes in other environmental variables. The best-studied examples of ultradian clocks are those of the ciliates Paramecium tetraurelia and Tetrahymena sp. and of the fission yeast, Schizosaccharomyces pombe. In these single cell eukaryotes, up to seven different parameters display ultradian rhythmicity (...) with the same, species- and strain-specific period. In fission yeast, the molecular genetic analysis of ultradian clock mechanisms has begun with the systematic analysis of mutants in identified candidate genes. More than 40 “clock mutants” have already been identified, most of them affected in components of major regulatory and signalling pathways. These results indicate a high degree of complexity for a eukaryotic clock mechanism. BioEssays 22:16–22, 2000. ©2000 John Wiley & Sons, Inc. (shrink)

The emerging field of ecological genomics promises to bring about a marriage between ecological and laboratory-based, genomic investigations. In this paper, I will reflect on this promise by exploring how ecology and genomics are integrated in the two approaches that currently dominate this field: the organism-centred approach, focusing individual organisms, and the metagenomic approach, concentrating on entire microbial communities composed of a variety of species. I will show that both approaches have already taken some important steps in bridging (...) the gap between genomics and ecology. Since the introduction of next-generation sequencing methodology in 2007, the organism-centred approach does not need to stick to classical model organisms like Arabidopsis anymore. Instead, it is now able to apply genomic tools to ecologically interesting species as well. The metagenomic approach has been able to give ecology a more prominent place in its investigations, in another way. Contrary to classical microbiology, it does not study microbial communities under controlled laboratory settings, but under nature's own conditions. However, in the marriage between genomics and ecology, genomics still appears to be the dominant partner, especially in the case of the organism-centred approach that continues to study the new ecological models in artificial lab environments. Moreover, the organism-centred and metagenomic approaches employ a gene-centred perspective in understanding critical ecological interactions, thus strengthening a reductionist rather than a holistic approach. (shrink)

The advent of deep sequencing technology has unexpectedly advanced our structural understanding of molecules composed of nucleic acids. A significant amount of progress has been made recently extrapolating the chemical methods to probe RNA structure into sequencing methods. Herein we review some of the canonical methods to analyze RNA structure, and then we outline how these have been used to probe the structure of many RNAs in parallel. The key is the transformation of structural biology problems into sequencing problems, whereby (...) sequencing power can be interpreted to understand nucleic acid proximity, nucleic acid conformation, or nucleic acid‐protein interactions. Utilizing such technologies in this way has the promise to provide novel structural insights into the mechanisms that control normal cellular physiology and provide insight into how structure could be perturbed in disease. (shrink)

Debates on the role of biotechnology in food production are beset with notorious ambiguities. This already applies to the term “biotechnology” itself. Does it refer to the use and modification of living organisms in general, or rather to a specific set of technologies developed quite recently in the form of bioengineering and genetic modification? No less ambiguous are discussions concerning the question to what extent biotechnology must be regarded as “unnatural.” In this article it will be argued that, in order (...) to disentangle some of the ambiguities involved, we have to broaden the temporal horizon of the debate. Ideas about biotechniques and naturalness have evolved in various socio-historical contexts and their historical origins will determine to a considerable extent their actual meaning and use in contemporary deliberations. For this purpose, a comprehensive timetable is developed, beginning with the Neolithic revolution ~10,000 years ago (resulting in the emergence of agriculture and the Common Human Pattern) up to the biotech revolution as it has evolved from the 1970s onwards—sometimes referred to as a second “Genesis.” The concept of nature that emerged in the context of the “Common Human Pattern” differs considerably from traditional philosophical concepts of nature (such as coined by Aristotle), as well as from the scientific view of nature conveyed by the contemporary life sciences. A clarification of these different historical backdrops will allow us to understand and elucidate the conceptual ambiguities that are at work in contemporary debates on biotechnology and the place of human beings in nature. (shrink)

The potential power of predictive genetic testing as a risk regulator is impressive. By identifying asymptomatic individuals who are at risk of becoming ill, predictive genetic testing may enable those individuals to take prophylactic measures. As new therapies become available, the usefulness of genetic testing undoubtedly will increase. Further, when a person's family medical history indicates a propensity towards a particular genetic disease, a negative test result may open up otherwise denied opportunities by showing that this person has not inherited (...) suspect genes. In the latter type of case, a negative test result may reassure the individual that pursuing a particular course of action is worthwhile, or may convince prospective employers that the individual will be a serviceable employee. (shrink)

How genomic innovation translates into organismal organization remains largely unanswered. Possessing the largest invertebrate nervous system, in conjunction with many species‐specific organs, coleoid cephalopods (octopuses, squids, cuttlefishes) provide exciting model systems to investigate how organismal novelties evolve. However, dissecting these processes requires novel approaches that enable deeper interrogation of genome evolution. Here, the existence of specific sets of genomic co‐evolutionary signatures between expanded gene families, genome reorganization, and novel genes is posited. It is reasoned that their co‐evolution has contributed to (...) the complex organization of cephalopod nervous systems and the emergence of ecologically unique organs. In the course of reviewing this field, how the first cephalopod genomic studies have begun to shed light on the molecular underpinnings of morphological novelty is illustrated and their impact on directing future research is described. It is argued that the application and evolutionary profiling of evolutionary signatures from these studies will help identify and dissect the organismal principles of cephalopod innovations. By providing specific examples, the implications of this approach both within and beyond cephalopod biology are discussed. (shrink)

Recent national calls for ethical, legal, and social implications (ELSI) research to “assess and address how ethical, historical, social, economic, legal, regulatory, socio-cultural, and contextual...

Down syndrome (Trisomy 21) is a mild to moderate intellectual disability. Historically, this condition has been a primary target for prenatal testing. However, Down syndrome has not been targeted for prenatal testing because it is an especially severe illness. The condition was just one that could be easily identified prenatally using the techniques first available decades ago. We are moving into an era in which we can prenatally test for a vast range of human traits. I argue that when we (...) can test for anything, there is no longer any reason to continue targeting Down syndrome. I present an argument based on the value of nondiscrimination. It is justified to set limits on access to prenatal information if the information is going to be used for discriminatory purposes. I use the examples of (1) prenatal testing for misogynistic fetal sex selection, and (2) homophobia-motivated prenatal testing for potential homosexuality, as compelling analogies. (shrink)

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