The study examined the knowledge and attitudes to personal genomics testing for complex diseases among Nigerians and identified how the knowledge and attitudes vary with gender, age, religion, education and related factors.

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)

Our incomplete understanding of carcinogenesis may be a significant reason why some cancer mortality rates are still increasing. This lack of understanding is likely due to a research approach that relies heavily on genetic comparison between cancerous and non‐cancerous tissues and cells, which has led to the identification of genes of cancer proliferation rather than differentiation. Recent observations showing that a tremendous degree of natural human genetic variation occurs are likely to lead to a shift in the basic paradigms of (...) cancer genetics, in that there is a need to consider both the nature of the genes involved, and the idea that not every genetic variation identified in these genes may be associated with carcinogenesis. Based on studies using LCM and micro‐genetic analyses, we propose that significant cancer initiating events may take place during the very early stages of development of cancer‐susceptible tissues and that using such techniques might greatly help us in our understanding of carcinogenesis. BioEssays 29:678–685, 2007. © 2007 Wiley Periodicals, Inc. (shrink)

Returning research results to participants is recognised as an obligation that researchers should always try to fulfil. But can we ascribe the same obligation to researchers who conduct genomics research producing only aggregated findings? And what about genomics research conducted in developing countries? This paper considers Beskow's et al. argument that aggregated findings should also be returned to research participants. This recommendation is examined in the context of genomics research conducted in developing countries. The risks and benefits of attempting such (...) an exercise are identified, and suggestions on ways to avoid some of the challenges are proposed. I argue that disseminating the findings of genomic research to participating communities should be seen as sharing knowledge rather than returning results. Calling the dissemination of aggregate, population level information returning results can be confusing and misleading as participants might expect to receive individual level information. Talking about sharing knowledge is a more appropriate way of expressing and communicating the outcome of population genomic research. Considering the knowledge produced by genomics research a worthwhile output that should be shared with the participants and approaching the exercise as a ‘sharing of knowledge’, could help mitigate the risks of unrealistic expectations and misunderstanding of findings, whilst promoting trusting and long lasting relationships with the participating communities. (shrink)

The development of innovative biomedical technologies that use gene editing tools opens up new possibilities in the treatment of rare diseases, as well as diseases that were not previously treated...

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)

Recent discussions of genomics and international justice have adopted the concept of ‘global public goods’ to support both the view of genomics as a benefit and the sharing of genomics knowledge across nations. Such discussion relies on a particular interpretation of the global public goods argument, facilitated by the ambiguity of the concept itself. Our aim in this article is to demonstrate this by a close examination of the concept of global public goods with particular reference to its use (...) in the context of genomic databases. We contend that the argument for construing genomics as a global public good depends on seeing it as a natural good by focusing on features intrinsic to genomics knowledge. We shall argue that social and political arrangements are relevant and that recognising this opens the door to construing the use of global public goods language as a strategic one. (shrink)

The increasing availability of large‐scale, complex data has made research into how human genomes determine physiology in health and disease, as well as its application to drug development and medicine, an attractive field for artificial intelligence (AI) approaches. Looking at recent developments, we explore how such approaches interconnect and may conflict with needs for and notions of causal knowledge in molecular genetics and genomic medicine. We provide reasons to suggest that—while capable of generating predictive knowledge at unprecedented (...) pace and scale—if and how these approaches will be integrated with prevailing causal concepts will not only determine the future of scientific understanding and self‐conceptions in these fields. But these questions will also be key to develop differentiated policies, such as for education and regulation, in order to harness societal benefits of AI for genomic research and medicine. (shrink)

The development of gene-editing technologies, such as the clustered regularly interspaced short palindromic repeats and associated Cas9 endonuclease system, coincides with a rapidly expanding knowledge of the role of genes in the human ageing process. This raises the prospect that, in addition to the treatment of genetic diseases and disorders, it may become possible to use gene-editing technologies to alter the ageing process and significantly extend the maximum human lifespan. Germline editing poses distinctive problems due to its implications for (...) individual members of future, unborn generations. In this essay, I wish to home in, narrowly, on a single ethical objection to extending the lifespan of future generations by editing the human germline. The objection suggests that to extend lifespans is to unethically inflict the harm of loneliness on future people. I claim that the argument rests on assumptions that ought to be rejected. (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)

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)

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

A central problem for the international governance of heritable germline gene editing is that there are important differences in attitudes and values as well as ethical and health care considerations around the world. These differences are reflected in a complicated and diverse regulatory landscape. Several publications have discussed whether reproductive uses would be legally permissible in individual countries and whether clinical applications could emerge in the context of regulatory gaps and gray areas. Systematic comparative studies that explore issues related to (...) the governance of this technology from different national and international perspectives are needed to address the lack of knowledge in this area. In this research report, we contribute to filling this gap by presenting views of stakeholders in the United Kingdom on challenges to the governance of heritable genome editing. We present findings from a multistakeholder study conducted in the United Kingdom between October 2016 and January 2018 and funded by the Wellcome Trust. This research included interviews, literature analysis, and a workshop. We involved leading U.K. scientists, in vitro fertilization clinicians, and representatives from regulatory bodies, patient organizations, and other civil societal organizations, as well as fertility companies. Part one of this article explores stakeholder perceptions of possible global developments in heritable genome editing and associated risks and governance challenges. Part two presents a range of policy options that were generated during the workshop in relation to the challenges discussed in part one. (shrink)

The genetic revolution is well underway, with genetic research and knowledge expanding at an exponential rate. Much of the new genetics research is focused on population groups, and proponents of “population genomics” argue that such studies are necessary since genetic “variation” among human populations holds the most promise for technological innovations that can improve human health and lead to increased understanding of the origin of human populations. Population genomic research thus targets specific groups to discover variation that could (...) lead to knowledge about genetic disorders, possible cures, and the origin and migration patterns of distinctive peoples. Research on genetic differences among groups or populations, however, raises many pressing ethical and legal questions. For example, focus on biological differences of racial and ethnic groups has in the past lead to assumptions about superiority and inferiority between groups, and in practice resulted in stigmatization and discrimination. Consequently, attention on groups should raise legal and moral red flags and compel us to move cautiously in this area. Pragmatically, targeting population groups as the object of study requires the determination of the nature and scope of “population groups” for purposes of genetics research. (shrink)

Although germline editing has been the subject of debate ever since the 1980s, it tended to be based rather on speculative assumptions until April 2015, when CRISPR/Cas9 technology was used to modify human embryos for the first time. This article combines knowledge about the technical and scientific state of the art, economic considerations, the legal framework and aspects of clinical reality. A scenario will be elaborated as a means of identifying key ethical implications of CRISPR/Cas9 genome editing in humans (...) and possible ways of dealing with them. Unlike most other discussions of CRISPR/Cas9 germline editing, which are generally based on deontological arguments, the focus in this case will be on a consequentialistic argument against certain applications of germline and somatic editing that takes not only the potential benefits and risks but also socioeconomic issues into consideration. The practical need for an indication catalogue, guidelines for clinical trials, and for funding of basic research will be pointed out. It will be argued that this need for regulatory action and discussion does not stem primarily from the fact that CRISPR/Cas9 germline editing is revolutionary in terms of its ethical implications and potential for human therapy, although this is the prevailing view in the current discussion. Understanding the value and interest dependency of arguments put forward by different stakeholders and learning from past debates related to similar technologies might prove a fruitful method of reaching judgments and decisions that come closer to a consensus upon which society as a whole can agree - which after all should be the true goal of an ethical debate and of bioethics. (shrink)

Count Me In (CMI) was launched in 2015 as a patient-driven research initiative aimed at accelerating the study of cancer genomics through direct participant engagement, electronic consent and open-access data sharing. It is an example of a large-scale direct-to-patient (DTP) research project which has since enrolled thousands of individuals. Within the broad scope of ‘citizen science’, DTP genomics research is defined here as a specific form of ‘top-down’ research endeavour developed and overseen by institutions within the traditional human subjects research (...) context; in novel ways, it engages and recruits patients with defined diseases, consents them for medical information and biospecimens sharing, and stores and disseminates genomic information. Importantly, these projects simultaneously aim to empower participants in the research process while increasing sample size, particularly in rare disease states. Using CMI as a case study, this paper discusses how DTP genomics research raises new questions in the context of traditional human subjects research ethics, including issues surrounding participant selection, remote consent, privacy and return of results. It aims to demonstrate how current research ethics frameworks may be insufficient in this context, and that institutions, institutional review boards and investigators should be aware of these gaps and their role in ensuring the conduct of ethical, novel forms of research together with participants. Ultimately, a broader question is raised of whether the rhetoric of participatory genomics research advocates for an ethic of personal and social duty for contributing to the advancement of generalisable knowledge about health and disease. (shrink)

The case outlined below is the basis for the In That Case section of the “Ethics and Epistemology of Big Data” symposium. Jordan receives reports from two separate personal genomic tests that provide intriguing data about ancestry and worrying but ambiguous data about the potential risk of developing Alzheimer’s disease. What began as a personal curiosity about genetic inheritance turns into an alarming situation of medical uncertainty. Questions about Jordan’s family tree are overshadowed by even more questions about Alzheimer’s (...) disease and healthy ageing. As a parent, Jordan is unsure whether to share these results and what it would mean for their children to learn about their genetic inheritance and potential future health. Furthermore, Jordan is unsure how to make sense of these reports in light of current knowledge of the risk factors for Alzheimer’s disease and in the absence of effective treatments or robust preventative guidelines. (shrink)

Human enhancement is the term used for applications of biomedical knowledge that aim to improve human form or functioning beyond what is necessary to restore or sustain good health. Genomics is one of the research-areas that promises to offer such possibilities in the near future, and body weight - especially over-weight and obesity - is one of the human characteristics at which these will be directed. This paper offers an overview of some of the moral issues that the subject (...) of enhancement raises when related to obesity and genomics. After a brief discussion of the different perspectives on obesity and on the meaning of the term enhancement, a framework is presented in which the moral issues at stake are organised according to perspective on obesity (health or aesthetics) and moral outlook (distributive justice vs private morality). An inventory is made of the different ethical discussions that possible future genomics-based options for the prevention or treatment of obesity and overweight may evoke. These include justice, obligations with regard to life-style, the limits of medical practice and the value of food and food-cultures. Finally, some speculations are made with regard to future possibilities for genetic modification and "self-evolution". (shrink)

This paper examines some ethical issues arising from whole-genome association studies for multigenic diseases, focusing on the case of autism. Events occurring following the announcement of a genetic test for autism in France (2005–2009) are described to exemplify the ethical controversies that can arise when genetic testing for autism is applied prematurely and inappropriately promoted by biotech companies. The authors argue that genetic tests assessing one or a few genes involved in highly multigenic disorders can only be useful if: (1) (...) the genetic linkage found in the scientific study must be statistically convincing, reproducible and also applicable to the population to which the individual considered belongs (scientific validity); (2) the relative risk conferred by the ‘high-risk’ allele should be high enough to be significant to the patient (significant impact); (3) use of the test should lead to some improvement of outcome for the patient, resulting from adapted treatment if available, or at least from adjustment of lifestyle (or life goals) prompted by the new knowledge generated (clinical utility). Decisions concerning genetic testing for autism involve scientific judgement, value judgement and good knowledge of a constantly evolving therapeutic environment. The implementation of genetic tests for highly multigenic diseases thus requires strong mechanisms to ensure that they are used in a fashion that can benefit patients, and these mechanisms must be able to cope with rapid progress in scientific knowledge and therapeutic intervention. (shrink)

The exponential growth of genetic knowledge and precision medicine research raises hopes for improved prevention, diagnosis, and treatment options for children with behavioral and psychiatric conditions. Although well-intended, this prospect also raise the possibility — and concern — that behavioral, including psychiatric genetic data would be increasingly used — or misused — outside the clinical context, such as educational settings. Indeed, there are ongoing calls to endorse a “personalized education” model that would tailor educational interventions to children's behavioral and (...) psychiatric genetic makeup. This article explores the justifications for, and prospects and pitfalls of such endeavors. It considers the scientific challenges and highlights the ethical, legal, and social issues that will likely arise should behavioral genetic data become available and are routinely incorporated in student education records. These include: when to disclose students' behavioral and psychiatric genetic profile; whose genomic privacy is protected and by whom; and how students' genetic data may affect education-related decisions. I argue that the introduction of behavioral genetics in schools may overshadow the need to address underlying structural and environmental factors that increase the risk for psychiatric conditions of all students, and that the unregulated use of student behavioral genetic profiles may lead to unintended consequences that are detrimental for individuals, families and communities. Relevant stakeholders — from parents and students to health professionals, educators, and policy-makers — ought to consider these issues before we forge ahead with a genomically informed education system. (shrink)

In this issue of the Hastings Center Report, Maya Sabatello and Paul Appelbaum explore the assumptions about community embedded in the U.S. Precision Medicine Initiative, which aims to recruit donor-partners who reflect the United States’ racial and ethnic diversity. As Sabatello and Appelbaum discuss, the initiative is like other national biobanking efforts in bringing to life an imagined genetic community in need of critical attention, and given the public-private forms of partnership at the heart of the PMI, such efforts could (...) become avenues to deepen existing inequalities rather than to alleviate them. The notion of justice has underwritten debates about genomic medicine, informed consent, citizenship, benefit sharing, and profit making since the first national biobanking project emerged at the dawn of the twenty-first century. In a paradigmatic case, the creation, by an Icelandic company, of the deCODE genomic biobank opened up fierce debates about the proper relationship between public good and private gain and became the first global example of the economic and political implications that imagined genetic communities could have in our shared future. In Mexico, in 2001, the Icelandic case fueled a policy agenda to deal with global health justice and the prospects of a future market-based colonialism predicated on the intimate knowledge of DNA. (shrink)

In this issue of the Hastings Center Report, Maya Sabatello and Paul Appelbaum explore the assumptions about community embedded in the U.S. Precision Medicine Initiative, which aims to recruit donor‐partners who reflect the United States’ racial and ethnic diversity. As Sabatello and Appelbaum discuss, the initiative is like other national biobanking efforts in bringing to life an imagined genetic community in need of critical attention, and given the public‐private forms of partnership at the heart of the PMI, such efforts could (...) become avenues to deepen existing inequalities rather than to alleviate them. The notion of justice has underwritten debates about genomic medicine, informed consent, citizenship, benefit sharing, and profit making since the first national biobanking project emerged at the dawn of the twenty‐first century. In a paradigmatic case, the creation, by an Icelandic company, of the deCODE genomic biobank opened up fierce debates about the proper relationship between public good and private gain and became the first global example of the economic and political implications that imagined genetic communities could have in our shared future. In Mexico, in 2001, the Icelandic case fueled a policy agenda to deal with global health justice and the prospects of a future market‐based colonialism predicated on the intimate knowledge of DNA. (shrink)

The Human Genome Decoding Project is progressing rapidly and the full sequences of the 3.2 bilions bases and its representation on the 23 chromosomes will be completed by 2003. The ethical impact of such innovative knowledge for Humankind is relevant. Who will detect the property of this informations and which organization will decide on its potential applications? The anthropological and philosophical implications of these innovative knowledges are presented and discussed.

Biologists are faced two questions which are new in their fields. How far to go in genetical research? How should new findings be applied?Theoretically, the answers are not so difficult to find. Research should not be halted or even slowed down. On which basis should we limit knowledge, it would even be on topics such as cancer, AIDS, ageing,…, a crime against humanity not to develop research. Also theoretically, findings would be applied for the good of humanity and for (...) a better health. But, negative consequences can, however, be expected if applications of research, and research itself, serves interests of private companies or of individuals. We cannot deny the advantages of the HGP which are considerable indeed in discovering, isolating, describing, sequencing genes, using in genie therapy,…, developing a better predictive medicine.But rules, and probably laws, will have to be developed to protect the confidentiality of genetical information, the risk being present that insurance companies or employers would use it to discriminate the individuals. People can not be defined only by their genomes. Individuals or populations cannot be stigmatised or ostracised by their genes. (shrink)

Recent advances in our understanding of the human genome have raised high hopes for the creation of personalized medicine able to predict diseases well before they occur, or that will lead to individualized and therefore more effective treatments. This possibility of a more accurate science of the prevention and surveillance of disease also illuminates the field of public health, where the translation of genomic knowledge could provide tools enhancing the capacity of public health authorities to promote health and (...) prevent diseases. But beyond scientific considerations, the use of genomics in public health research and interventions gives rise to several ethical and social issues of great importance. Considering the impact that PHG could have on the future of public health while still paying attention to the uncertainty surrounding the use of genomic databases for the benefit of populations, this article seeks to explore the promise of genomics in public health and the ethical issues that emerge from its application. (shrink)

There is an increasing interest in scanning and assessing the science and technology landscape for emerging technologies - such as those based on genomics knowledge - because innovations are beneficial to businesses and nations, and because of the Collingridge dilemma. The latter concerns the uncertainty and manageability of technology in its early development phases versus the more solidified later stages. In this context, the assessment of upcoming scientific and technological (sub)fields or "hot spots" is of interest. In this paper (...) we focus on methods to identify hot spots in pharmacogenomics and nutrigenomics and how this method can contribute to policy strategies. Moreover, the bibliometric results contribute to our understanding of hot spots within these genomics subfields. We answer the following leading research question: What are the main research fields of emerging pharmacogenomics and nutrigenomics technologies and how do these impact policy strategies? First, this paper introduces a novel method for identifying hot spots in emerging technologies. Following this method, pharmacogenomics and nutrigenomics show an above-average growth in patent applications. Patent search also suggests that for pharmacogenomics, countries such as Italy and France, and subfields such as cancer genomics are highly visible. For nutrigenomics, the Netherlands and Austria are important countries, while the dairy subfield proves to be a hot spot. Second, we discuss implications for policy strategies. We argue that it is difficult for policymakers to follow hot spots when they design their policy, because of the inherent tendency to "nurture" winners instead of "picking" fundamental new winners. Policymakers should be aware of this bias and research should address this issue by, for example, complementing the hot spot analysis with more interactive methods. (shrink)

Researchers who propose projects about the human past frequently fail to distinguish between scientific value and the impact of both the proposal and the possible outcome for participant groups. It is only in recent years, and still in relatively few cases, that Aboriginal Australians have been directly involved in projects about themselves. The legacy of previous research experiences is a lingering distrust of ‘white’ researchers who visit communities briefly, take material/information, publish papers, and are rarely seen again. This distrust is (...) understandable but in turn becomes a barrier which many well-intentioned researchers are unable or unwilling to overcome. The expectations of the scientific community, particularly in the field of molecular biology, simply do not make allowances in terms of time or funding to build a trusting relationship between the researchers and the researched.Sensitivity to indigenous rights and expectations with regard to scientific research brings obligations to scientific investigators with which few are well prepared to deal. The direct involvement of indigenous people in research about themselves is essential to the development of trusting working relationships likely to result in valuable outcomes for all participants and increased opportunities for ongoing research.Well negotiated, co-operative research can provide information of value to both scientific investigators and local participants, but adequate and ongoing consultation, as well as the return of results to the communities in an accurate and appropriate form must be part of research strategy. For example, information about mitochondrial DNA studies may assist Indigenous Australian people, whose families were dispersed during colonisation by Europeans, to trace links with the past, find ‘stolen children’ and by association with other anthropological, linguistic and archaeological data, repossess some remnants of traditional knowledge, but researchers must ensure that participants have a realistic understanding of the limitations of the research. (shrink)

The Human Genome Project is an expensive, ambitious, and controversial attempt to locate and map every one of the approximately 100,000 genes in the human body. If it works, and we are able, for instance, to identify markers for genetic diseases long before they develop, who will have the right to obtain such information? What will be the consequences for health care, health insurance, employability, and research priorities? And, more broadly, how will attitudes toward human differences be affected, morally and (...) socially, by the setting of a genetic “standard”? The compatibility of individual rights and genetic fairness is challenged by the technological possibilities of the future, making it difficult to create an agenda for a “just genetics.” Beginning with an account of the utopian dreams and authoritarian tendencies of historical eugenics movements, this book’s nine essays probe the potential social uses and abuses of detailed genetic information. Lucid and wide-ranging, these contributions will interest bioethicists, legal scholars, and policy makers. Essays: “The Genome Project and the Meaning of Difference,” Timothy F. Murphy “Eugenics and the Human Genome Project: Is the Past Prologue?,” Daniel J. Kevles “Handle with Care: Race, Class, and Genetics,” Arthur L. Caplan “Public Choices and Private Choices: Legal Regulation of Genetic Testing,” Lori B. Andrews “Rules for Gene Banks: Protecting Privacy in the Genetics Age,” George J. Annas “Use of Genetic Information by Private Insurers,” Robert J. Pokorski “The Genome Project, Individual Differences, and Just Health Care,” Norman Daniels “Just Genetics: A Problem Agenda,” Leonard M. Fleck “Justice and the Limitations of Genetic Knowledge,” Marc A. Lappé. (shrink)

Community engagement (CE) contributes to successful research. There is, however, a lack of literature on the effectiveness of different models of CE and, specifically, on CE strategies for the conduct of genomic research in sub-Saharan Africa. There is also a need for models of CE that transcend the recruitment stage of engaging prospective individuals and communities and embed CE throughout the research process and after the research has concluded. The qualitative study reported here was designed to address these (...) class='Hi'>knowledge gaps and comprised of 36 key informant semi-structured interviews and fifteen focus groups with 50 participants. We interviewed selected stakeholders in genomic research in Nigeria: biomedical researchers, community rulers, opinion leaders, community health workers, and prospective research participants. We explored these stakeholders’ views on their understanding of community engagement, their expectations, experiences, and their opinions on acceptable processes of community consultation in genomic research. The methodological design, adapted from grounded theory, used the constant comparative method of data analysis; while normative conclusions were made using the symbiotic empirical ethics approach. Data analysis revealed five main themes important for successfully engaging communities in genomic research: effective communication, diversity of community gatekeeping, trust, cultural integration of research, and conservation of the research setting. From these themes, we have developed a four-stage model of community engagement that covers all stages of the research process; namely, the Community Approach, Intermediate phase, Collaboration and Post-research Cordiality model (CICP). This model could be used to improve the integration of CE in genomic research among local communities. (shrink)

The major transcript variants of human protein‐coding genes are annotated to a certain degree of accuracy combining manual curation, transcript data, and proteomics evidence. However, there is considerable disagreement on the annotation of about 2000 genes—they can be protein‐coding, noncoding, or pseudogenes—and on the annotation of most of the predicted alternative transcripts. Pure transcriptome mapping approaches seem to be limited in discriminating functional expression from noise. These limitations have partially been overcome by dedicated algorithms to detect alternative spliced micro‐exons and (...) wobble splice variants. Recently, knowledge about splice mechanism and protein structure are incorporated into an algorithm to predict neighboring homologous exons, often spliced in a mutually exclusive manner. Predicted exons are evaluated by transcript data, structural compatibility, and evolutionary conservation, revealing hundreds of novel coding exons and splice mechanism re‐assignments. The emerging human pan‐genome is necessitating distinctive annotations incorporating differences between individuals and between populations. (shrink)

Community engagement (CE) contributes to successful research. There is, however, a lack of literature on the effectiveness of different models of CE and, specifically, on CE strategies for the conduct of genomic research in sub-Saharan Africa. There is also a need for models of CE that transcend the recruitment stage of engaging prospective individuals and communities and embed CE throughout the research process and after the research has concluded. The qualitative study reported here was designed to address these (...) class='Hi'>knowledge gaps and comprised of 36 key informant semi-structured interviews and fifteen focus groups with 50 participants. We interviewed selected stakeholders in genomic research in Nigeria: biomedical researchers, community rulers, opinion leaders, community health workers, and prospective research participants. We explored these stakeholders’ views on their understanding of community engagement, their expectations, experiences, and their opinions on acceptable processes of community consultation in genomic research. The methodological design, adapted from grounded theory, used the constant comparative method of data analysis; while normative conclusions were made using the symbiotic empirical ethics approach. Data analysis revealed five main themes important for successfully engaging communities in genomic research: effective communication, diversity of community gatekeeping, trust, cultural integration of research, and conservation of the research setting. From these themes, we have developed a four-stage model of community engagement that covers all stages of the research process; namely, the Community Approach, Intermediate phase, Collaboration and Post-research Cordiality model (CICP). This model could be used to improve the integration of CE in genomic research among local communities. (shrink)

Community engagement (CE) contributes to successful research. There is, however, a lack of literature on the effectiveness of different models of CE and, specifically, on CE strategies for the conduct of genomic research in sub-Saharan Africa. There is also a need for models of CE that transcend the recruitment stage of engaging prospective individuals and communities and embed CE throughout the research process and after the research has concluded. The qualitative study reported here was designed to address these (...) class='Hi'>knowledge gaps and comprised of 36 key informant semi-structured interviews and fifteen focus groups with 50 participants. We interviewed selected stakeholders in genomic research in Nigeria: biomedical researchers, community rulers, opinion leaders, community health workers, and prospective research participants. We explored these stakeholders’ views on their understanding of community engagement, their expectations, experiences, and their opinions on acceptable processes of community consultation in genomic research. The methodological design, adapted from grounded theory, used the constant comparative method of data analysis; while normative conclusions were made using the symbiotic empirical ethics approach. Data analysis revealed five main themes important for successfully engaging communities in genomic research: effective communication, diversity of community gatekeeping, trust, cultural integration of research, and conservation of the research setting. From these themes, we have developed a four-stage model of community engagement that covers all stages of the research process; namely, the Community Approach, Intermediate phase, Collaboration and Post-research Cordiality model (CICP). This model could be used to improve the integration of CE in genomic research among local communities. (shrink)

Community engagement (CE) contributes to successful research. There is, however, a lack of literature on the effectiveness of different models of CE and, specifically, on CE strategies for the conduct of genomic research in sub-Saharan Africa. There is also a need for models of CE that transcend the recruitment stage of engaging prospective individuals and communities and embed CE throughout the research process and after the research has concluded. The qualitative study reported here was designed to address these (...) class='Hi'>knowledge gaps and comprised of 36 key informant semi-structured interviews and fifteen focus groups with 50 participants. We interviewed selected stakeholders in genomic research in Nigeria: biomedical researchers, community rulers, opinion leaders, community health workers, and prospective research participants. We explored these stakeholders’ views on their understanding of community engagement, their expectations, experiences, and their opinions on acceptable processes of community consultation in genomic research. The methodological design, adapted from grounded theory, used the constant comparative method of data analysis; while normative conclusions were made using the symbiotic empirical ethics approach. Data analysis revealed five main themes important for successfully engaging communities in genomic research: effective communication, diversity of community gatekeeping, trust, cultural integration of research, and conservation of the research setting. From these themes, we have developed a four-stage model of community engagement that covers all stages of the research process; namely, the Community Approach, Intermediate phase, Collaboration and Post-research Cordiality model (CICP). This model could be used to improve the integration of CE in genomic research among local communities. (shrink)

This study investigates metaphor in its role to mediate concepts in academic textbooks and promote content understanding in the English-medium instruction (EMI) context. Of particular interest is how the language of the discourse affected and possibly hindered metaphor comprehension. Drawing on the theoretical insights found in sociocultural theory and cognitive linguistics, a stance was assumed in which language is treated as embodied and contextual, and verbalizing thoughts (languaging) assists understanding. Three pairs of Japanese students with varying English proficiency levels were (...) invited to participate in online group-based think-aloud protocols where they read and discussed selected paragraphs taken from two social and two natural science textbooks written in English. After accessing the participants’ general knowledge about the main topic of each paragraph, content understanding was accounted for in form of prompts during the think-aloud sessions and a 3-week delayed posttest. In total, over 8 hours of video data were collected, transcribed, and treated with the metaphor identification procedure MIPVU. Qualitative inspections of charged moments in discourse pinpoint metaphor as an important tool for compressing abstract entities or processes into meaningful, dense bundles of information. Participants also created their own analogies and expanded on found metaphoric expressions in textbooks when attempting to make sense of abstract phenomena in science. Further, this study confirms that the lack of English proficiency or schematic knowledge can result in non-understanding, misunderstanding, or partial understanding of metaphoric expressions which has implications for the EMI context. (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)

BackgroundResearch on genomics has increased while the biobank activities are becoming more common in different countries. In the mental health field, the questions concerning the potential participants’ vulnerability as well as capacity to give the informed consent can cause reluctancy in recruiting persons with mental health problems, although the knowledge and understanding of mental health problems has remarkable changed, and practice is guided with inclusive approaches, such as recovery approach.AimThe aim of this study was to describe the current (...) class='Hi'>knowledge of informed consent practices in the context of genomic research on mental health from the nurses’ viewpoint.MethodsAn integrative review was conducted with search from seven international databases. Data consist 14 publications which were analyzed with thematic analysis.Ethical considerationsEthical requirements were respected in every phase of the research process.FindingsMost of the papers were published in USA and between 2000–2010. Eight reports were categorized as discussion papers, four qualitative studies and one quantitative study. The thematic analysis provided information on five themes: complexity with the capacity to consent, mixed emotions towards participation, factors influencing the decision to participate, nurses’ informed consent process competence and variations between consent procedures.DiscussionIn the informed consent practices, there are various aspects which may affect both the willingness to participate in the study and the informed consent process itself. Implications for practice, education, research, and policies are discussed.ConclusionThere is a need for more updated international research on the topic in the context of different international and national guidelines, legislation, and directives. This study provided a viewpoint to the more collaborative research activities with people with lived experiences also in this field of research following the ideas of recovery approach. (shrink)

Salmon genomics is an emerging field that represents a convergence between socially important scientific innovation and a politically volatile topic of significant interest to the public. These factors provide a strong rationale for public input. This report describes such input from a public engagement event based on the principles of deliberative democracy. The event involved a random, demographically stratified sample of 25 British Columbians (Canada). While some participants opposed sequencing the salmon genome on principle, on the whole participants responded favourably, (...) citing the value of increased knowledge of human impacts on salmon, potentially slowing or reversing this impact, and assisting sustainable management of salmon resources. Participants discussed many of the potential implications of the sequencing project and formulated recommendations pertaining to regulations, international treaties, public education and engagement. Overall, the project illustrates that the specific design and implementation of this event is capable of producing sound policy advice from the general public on genomic-related issues. (shrink)

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

The aim of the presentation is to focus on the differences between two scientific contexts: the genetic engineering context of the 1970s, with specific attention paid to the use of the recombinant DNA technique to generate genetically modified molecules, and the current genome editing context, with specific attention paid to the use of CRISPR-Cas9 technology to modify human germ line cells genetically. In both events, scientists have been involved in discussions that have gone beyond mere professional deontology touching on specific (...) policy issues such as freedom of research, responsibility for the consequences of research, the right of the public to participate in the evaluation of the goals of research methods, the relationship between cost and benefit and possible social consequences. The comparison between these two scientific contexts suggests the need of handling such issues by defining procedures that meet the criteria of democracy and responsibility towards society. The underlying objective should be to effectively launch actions and interventions based not on a hierarchical approach but rather a reticular conception of knowledge. (shrink)

Background Inadequate knowledge among health care providers (HCPs) and parents of affected children limits the understanding and utility of secondary genetic findings (SFs) in under-represented populations in genomics research. SFs arise from deep DNA sequencing done for research or diagnostic purposes and may burden patients and their families despite their potential health importance. This study aims to evaluate the perspective of both groups regarding SFs and their choices in the return of results from genetic testing in the context of (...) orofacial clefts.Methods Using an online survey, we evaluated the experiences of 252 HCPs and 197 parents across participating cleft clinics in Ghana and Nigeria toward the return of SFs across several domains.Results Only 1.6% of the HCPs felt they had an expert understanding of when and how to incorporate genomic medicine into practice, while 50.0% agreed that all SFs should be returned to patients. About 95.4% of parents were willing to receive all the information from genetic testing (including SFs), while the majority cited physicians as their primary information source (64%).Conclusions Overall, parents and providers were aware that genetic testing could help in the clinical management of diseases. However, they cited a lack of knowledge about genomic medicine, uncertain clinical utility, and lack of available learning resources as barriers. The knowledge gained from this study will assist with developing guidelines and policies to guide providers on the return of SFs in sub-Saharan Africa and across the continent. (shrink)

Background: Personal genomic testing (PGT) offers individuals genetic information about relationships, wellness, sporting ability, and health. PGT is increasingly accessible online, including in emerging markets such as Australia. Little is known about what consumers expect from these tests and whether their reflections on testing resonate with bioethics concepts such as autonomy. Methods: We report findings from focus groups and semi-structured interviews that explored attitudes to and experiences of PGT. Focus group participants had little experience with PGT, while interview participants (...) had undergone testing. Recordings were transcribed and analyzed using thematic analysis. Findings were critically interpreted with reference to bioethics scholarship on autonomy. Results: Fifty-six members of the public participated in seven focus groups, and 40 individuals were interviewed separately. Both groups valued the choice of PGT, and believed that it could motivate relevant actions. Focus group themes centered on the perceived value of choices, knowledge enabling action and knowledge about the self. Interview themes suggest that participants reflexively engage with their PGT information to make meaning, and that some appreciate its shortcomings. Critical interpretation of findings shows that while consumers of PGT are able to exercise a degree of autonomy in choosing, they may not be able to achieve a substantive conceptualization of autonomy, one that promotes alignment with higher-order desires. Conclusions: PGT consumers can critically reason about testing. However, they may uncritically accept test results, may not appreciate drawbacks of increased choice, or may overestimate the potential for information to motivate behavioral change. While consumers appear to be capable of substantive autonomy, they do so without ongoing support from companies. PGT companies promote a problematic (“default”) account of autonomy, reliant on empowerment rhetoric. This leaves consumers vulnerable to making decisions inconsistent with their higher-order desires. As PGT expands, claims about its power and value need to be carefully drawn. (shrink)

The promises of precision medicine are often heralded in the medical and lay literature, but routine integration of genomics in clinical practice is still limited. While the “last mile” infrastructure to bring genomics to the bedside has been demonstrated in some healthcare settings, a number of challenges remain — both in the receptivity of today's health system and in its technical and educational readiness to respond to this evolution in care. To improve the impact of genomics on health and disease (...) management, we will need to integrate both new knowledge and new care processes into existing workflows. This change will be onerous and time-consuming, but hopefully valuable to the provision of high quality, economically feasible care worldwide. (shrink)

The biosciences have become information sciences, in which knowledge is often produced in silica, by the manipulation and analysis of large datasets. Genomics has been at the forefront of the data explosion and is a model for bioscience as a large-scale endeavor. Large genome research datasets are frequently shared through research repositories. To protect the interests of people from whom the data were derived , human data are often shared through a controlled access mechanism, in which data repositories can, (...) in theory, place limitations on who uses the data and for what purpose. Controlled access is an innovative governance mechanism, but it may not protect data sources the way policy makers intended. Here, I describe one controlled access process in some detail, and provide insight into how and why researchers fail to comply with data use restrictions. (shrink)

Synthetic biology is an increasingly high-profile area of research that can be understood as encompassing three broad approaches towards the synthesis of living systems: DNA-based device construction, genome-driven cell engineering and protocell creation. Each approach is characterized by different aims, methods and constructs, in addition to a range of positions on intellectual property and regulatory regimes. We identify subtle but important differences between the schools in relation to their treatments of genetic determinism, cellular context and complexity. These distinctions tie into (...) two broader issues that define synthetic biology: the relationships between biology and engineering, and between synthesis and analysis. These themes also illuminate synthetic biology's connections to genetic and other forms of biological engineering, as well as to systems biology. We suggest that all these knowledge-making distinctions in synthetic biology raise fundamental questions about the nature of biological investigation and its relationship to the construction of biological components and systems. (shrink)