Ethical issues and GenomEUtwin

The post-genomic era is witnessing a proliferation of large-scale and population based genetic and genomic research projects. Many countries have or are establishing research biobanks and, as with GenomEUtwin, there is great interest in building multinational projects that link genotypic and phenotypic information from different centers. Clearly, the conduct of these projects raises multiple ethical issues, and the knowledge generated will continually recast the ethical, legal and social implications (ELSI) of such research. Maximising the scientific profit from this work while minimizing the risks to the participants requires full integration of ethics components into the structure and functioning of these projects. GenomEUtwin is organized around five intellectual cores, including an Ethics Core which operates across the entire project. This paper describes the role of the Ethics Core and presents an overview of the guidelines on which the principles followed in GenomEUtwin are based. We outline the major ethical concerns of our project and highlight complexities arising from diverse national legislations. Finally, the role of empirically based ethics research is discussed for understanding the ethical, legal, social and economic implications of human genetics and genomics research

Genomic Research Data Generation, Analysis and Sharing – Challenges in the African Setting

International audienceGenomics is the study of the genetic material that constitutes the genomes of organisms. This genetic material can be sequenced and it provides a powerful tool for the study of human, plant and animal evolutionary history and diseases. Genomics research is becoming increasingly commonplace due to significant advances in and reducing costs of technologies such as sequencing. This has led to new challenges including increasing cost and complexity of data. There is, therefore, an increasing need for computing infrastructure and skills to manage, store, analyze and interpret the data. In addition, there is a significant cost associated with recruitment of participants and collection and processing of biological samples, particularly for large human genetics studies on specific diseases. As a result, researchers are often reluctant to share the data due to the effort and associated cost. In Africa, where researchers are most commonly at the study recruitment, determination of phenotypes and collection of biological samples end of the genomic research spectrum, rather than the generation of genomic data, data sharing without adequate safeguards for the interests of the primary data generators is a concern. There are substantial ethical considerations in the sharing of human genomics data. The broad consent for data sharing preferred by genomics researchers and funders does not necessarily align with the expectations of researchers, research participants, legal authorities and bioethicists. In Africa, this is complicated by concerns about comprehension of genomics research studies, quality of research ethics reviews and understanding of the implications of broad consent, secondary analyses of shared data, return of results and incidental findings. Additional challenges with genomics research in Africa include the inability to transfer, store, process and analyze large-scale genomics data on the continent, because this requires highly specialized skills and expensive computing infrastructure which are often unavailable. Recently initiatives such as H3Africa and H3ABioNet which aim to build capacity for large-scale genomics projects in Africa have emerged. Here we describe such initiatives, including the challenges faced in the generation, analysis and sharing of genomic data and how these challenges are being overcome

Managing expectations, rights, and duties in large-scale genomics initiatives: a European comparison

This article reports on the findings of an international workshop organised by the UK-France Genomics and Ethics Network (UK-FR GENE) in 2021. They focus specifically on how collection, storage and sharing of genomic data may pose challenges to established principles and values such as trust, confidentiality, and privacy in countries that have implemented, or are about to implement, large-scale national genomic initiatives. These challenges impact the relationships between patients/citizens and medicine/science, and on each party’s rights and duties towards each other. Our geographic scope of comparative analysis includes initiatives underway in England (Genomics England), France (Plan France Médecine Génomique) and Germany (German Human Genome-Phenome Archive). We discuss existing as well as future challenges raised by large-scale health data collection and management in each country. We conclude that the prospects of improving individualised patient healthcare as well as contributing to the scientific and research prosperity of any given nation engaged in health data collection, storage and processing are undeniable. However, we also attempt to demonstrate that biomedical data requires careful management, and transparent and accountable governance structures that are clearly communicated to patients/participants and citizens. Furthermore, when third parties partake as stakeholders, transparent consent protocols relative to data access and use come centre stage, and patient benefits must clearly outweigh commercial interests. Finally, any cross-border data transfer needs to be carefully managed to address incoherencies between regional, national, and supranational regulations and recommendations

Model consent clauses for rare disease research

Background: Rare Disease research has seen tremendous advancements over the last decades, with the development of new technologies, various global collaborative efforts and improved data sharing. To maximize the impact of and to further build on these developments, there is a need for model consent clauses for rare diseases research, in order to improve data interoperability, to meet the informational needs of participants, and to ensure proper ethical and legal use of data sources and participants' overall protection. Methods: A global Task Force was set up to develop model consent clauses specific to rare diseases research, that are comprehensive, harmonized, readily accessible, and internationally applicable, facilitating the recruitment and consent of rare disease research participants around the world. Existing consent forms and notices of consent were analyzed and classified under different consent themes, which were used as background to develop the model consent clauses. Results: The IRDiRC-GA4GH MCC Task Force met in September 2018, to discuss and design model consent clauses. Based on analyzed consent forms, they listed generic core elements and designed the following rare disease research specific core elements; Rare Disease Research Introductory Clause, Familial Participation, Audio/Visual Imaging, Collecting, storing, sharing of rare disease data, Recontact for matching, Data Linkage, Return of Results to Family Members, Incapacity/Death, and Benefits. Conclusion: The model consent clauses presented in this article have been drafted to highlight consent elements that bear in mind the trends in rare disease research, while providing a tool to help foster harmonization and collaborative efforts

Reflections on the Cost of Low-Cost Whole Genome Sequencing: Framing the Health Policy Debate

The cost of whole genome sequencing is dropping rapidly. There has been a great deal of enthusiasm about the potential for this technological advance to transform clinical care. Given the interest and significant investment in genomics, this seems an ideal time to consider what the evidence tells us about potential benefits and harms, particularly in the context of health care policy. The scale and pace of adoption of this powerful new technology should be driven by clinical need, clinical evidence, and a commitment to put patients at the centre of health care policy

Writing biology with mutant mice: the monstrous potential of post genomic life

Social scientific accounts identified in the biological grammars of early genomics a monstrous reductionism, ‘an example of brute life, the minimalist essence of things’ (Rabinow, 1996, p. 89). Concern about this reductionism focused particularly on its links to modernist notions of control; the possibility of calculating, predicting and intervening in the biological futures of individuals and populations. Yet, the trajectories of the post genomic sciences have not unfolded in this way, challenging scientists involved in the production and integration of complex biological data and the interpretative strategies of social scientists honed in critiquing this reductionism. The post genomic sciences are now proliferating points from which to understand relations in biology, between genes and environments, as well as between species and spaces, opening up future possibilities and different ways of thinking about life. This paper explores the emerging topologies and temporalities of one form of post genomic research, drawing upon ethnographic research on international efforts in functional genomics, which are using mutant mice to understand mammalian gene function. Using vocabularies on the monstrous from Derrida and Haraway, I suggest an alternative conceptualisation of monstrosity within biology, in which the ascendancy of mice in functional genomics acts as a constant supplement to the reductionist grammars of genomics. Rather than searching for the minimalist essence of things, this form of functional genomics has become an exercise in the production and organization of biological surplus and excess, which is experimental, corporeal and affective. The uncertain functioning of monsters in this contexts acts as a generative catalyst for scientists and social scientists, proliferating perspectives from which to listen to and engage with the mutating landscapes, forms of life, and languages of a post genomic biology

“What if There's Something Wrong with Her?”‐How Biomedical Technologies Contribute to Epistemic Injustice in Healthcare

While there is a steadily growing literature on epistemic injustice in healthcare, there are few discussions of the role that biomedical technologies play in harming patients in their capacity as knowers. Through an analysis of newborn and pediatric genetic and genomic sequencing technologies (GSTs), I argue that biomedical technologies can lead to epistemic injustice through two primary pathways: epistemic capture and value partitioning. I close by discussing the larger ethical and political context of critical analyses of GSTs and their broader implications for just and equitable healthcare delivery

Challenges of web-based personal genomic data sharing

In order to study the relationship between genes and diseases, the increasing availability and sharing of phenotypic and genotypic data have been promoted as an imperative within the scientific community. In parallel with data sharing practices by clinicians and researchers, recent initiatives have been observed in which individuals are sharing personal genomic data. The involvement of individuals in such initiatives is facilitated by the increased accessibility of personal genomic data, offered by private test providers along with availability of online networks. Personal webpages and on-line data sharing platforms such as Consent to Research (Portable Legal Consent), Free the Data, and Genomes Unzipped are being utilized to host and share genotypes, electronic health records and family history uploaded by individuals. Although personal genomic data sharing initiatives vary in nature, the emphasis on the individuals’ control on their data in order to benefit research and ultimately health care has seen as a key theme across these initiatives. In line with the growing practice of personal genomic data sharing, this paper aims to shed light on the potential challenges surrounding these initiatives. As in the course of these initiatives individuals are solicited to individually balance the risks and benefits of sharing their genomic data, their awareness of the implications of personal genomic data sharing for themselves and their family members is a necessity. Furthermore, given the sensitivity of genomic data and the controversies around their complete de-identifiability, potential privacy risks and harms originating from unintended uses of data have to be taken into consideration