Ethical, Legal, And Social Implications Research Articles

An alternative future of digitized genetic information and digital procreation

This research looks what happens to human reproduction when human genetic information is digitized. By employing speculative design as a transdisciplinary strategy to construct such an alternative future to open up public dialogues, it aims to stimulate audiences in an artistic way to deliberate two key questions: (1) how will biotechnology recondition and recontextualize the natural processes of genetic information (i.e. expression, replication, transmission and mutation) and our physiological processes (e.g. reproduction)? And (2) what might be the ethical, legal and social implications (ELSI) for using such biotechnology? To this end, this practice-based research introduces the ‘e-gamete Digital Procreation Service’ (2019) – a speculative design project that has been developed as an approach to invite audiences to a future scenario of network-transmitted genetic information and computer-simulated human procreation. The carefully designed future service (an ironic practice of commercialization) allows human reproduction to take place outside of the human body. Audiences are encouraged to contemplate what novel situations might occur within their own futures and to consider broader questions like how family, parenthood, marriage, etc. are redefined and what new social relationships might emerge. By employing speculative design as an artistic research tool/tactic to step outside the technical limitations and craft the future service, the project asks vital question about the future in a provocative and quasi-realistic manner. Thus, the research forms a unique entanglement of sensitive topics by dealing with future biotechnology and human reproduction.

Unraveling the Ethical, Legal, and Social Implications of Neurobiobanking and Stroke Genomic Research in Africa: A Study Protocol of the African Neurobiobank for Precision Stroke Medicine ELSI Project.

The ethical, legal, and social implications (ELSI) of emerging neurobiobanks and data resources are unclear in an African scientific landscape with unique cultural, linguistic, and belief systems. The overarching goal of the African Neurobiobank for Precision Stroke Medicine—ELSI Project is to identify, examine, and develop novel approaches to address ELSI issues of biobanking and stroke genomic research in sub-Saharan Africa (SSA). To accomplish the goal we will (1) explore knowledge, attitude, perceptions, barriers, and facilitators influencing ELSI issues related to biobanking and stroke genomic research; (2) use information obtained to craft a community intervention program focused on ELSI issues; and (3) build capacity and careers related to genomics and biobanking for effective client/community engagement while enhancing regulatory, governance, and implementation competences in biobanking science in SSA. A community-based participatory research and mixed-methodological approach, focused on various levels of the social ecological model, will be used to identify and examine relevant ELSI issues. Contextual intervention tools, platforms, and practices will be developed to enhance community understanding and participation in stroke biobanking and genomics research activities while facilitating enduring trust, and equitable and fair utilization of biobanking resources for genetic and trans-omics research. A concurrent capacity building program related to genetic counseling and biobanking will be implemented for early career researchers. The huge potential for neurobiobanking and genomics research in Africa to advance precision medicine applicable to stroke and other neurological disorders requires addressing ELSI challenges while building sustainable research, career, and regulatory capacities in trans-omics and biobanking science.

Ethical priority of the most actionable system of biomolecules: the metabolome.

The metabolome is a system of small biomolecules (metabolites) and a direct result of human bioculture. Consequently, metabolomics is well poised to impact anthropological and biomedical research for the foreseeable future. Overall, we provide a perspective on the ethical, legal, and social implications (ELSI) of metabolomics, which we argue are often more alarming than those of genomics. Given the current mechanisms to fund research, ELSI beyond human DNA is stifled and in need of considerable attention.

International Society of Psychiatric Genetics Ethics Committee: Issues facing us.

Psychiatric genetics research is improving our understanding of the biological underpinnings of neurodiversity and mental illness. Using psychiatric genetics in ways that maximize benefits and minimize harms to individuals and society depends largely on how the ethical, legal, and social implications (ELSI) of psychiatric genetics are managed. The International Society of Psychiatric Genetics (ISPG) is the largest international organization dedicated to psychiatric genetics. Given its history, membership, and international reach, we believe the ISPG is well-equipped to contribute to the resolution of these ELSI challenges. As such, we recently created the ISPG Ethics Committee, an interdisciplinary group comprised of psychiatric genetics researchers, clinical geneticists, genetic counselors, mental health professionals, patients, patient advocates, bioethicists, and lawyers. This article highlights key ELSI challenges identified by the ISPG Ethics Committee to be of paramount importance for the ethical translation of psychiatric research into society in three contexts: research settings, clinical settings, and legal proceedings. For each of these arenas, we identify and discuss pressing psychiatric genetics ELSI dilemmas that merit attention and require action. The goal is to increase awareness about psychiatric genetics ELSI issues and encourage dialogue and action among stakeholders.

On What We Have Learned and Still Need to Learn about the Psychosocial Impacts of Genetic Testing.

Since the start of the program to investigate the ethical, legal, and social implications (ELSI) of the Human Genome Project in 1990, many ELSI scholars have maintained that genetic testing should be used with caution because of the potential for negative psychosocial effects associated with receiving genetic information. More recently, though, some ELSI scholars have produced evidence suggesting that the original ELSI concerns were unfounded, exaggerated, or, at a minimum, misdirected. At least in the contexts that have been most studied, large negative impacts have not been found in the vast majority of people studied. What might explain the discrepancy between the original hypothesized outcomes and the growing impression that large negative effects appear to be few and far between? And if the original predictions of large negative psychosocial effects were simply wrong, is it time for ELSI researchers to move on? Should genetic testing be routinized, and would it be appropriate to relax or abandon the practice of engaging patients in a process of detailed informed consent before they receive genetic information? To confront those questions, we convened a conference entitled "Looking for the Psychosocial Impacts of Genomic Information" to review what is known about the negative impacts of genetic information on a variety of populations and in multiple medical and social contexts, to explore the implications of the findings, and to consider whether future research might benefit from different methods than have been used to date.

Public Participation in the Development Process of a Mobility Assistance System for Visually Impaired Pedestrians

Blind and visually impaired people have to cope with the safe movement through public space and the (lack of) knowledge of spatial issues and walkable routes. These challenges often lead to a fear of accidents and collisions, frequently also of disorientation. This, in turn, can result in a reduced radius of action, restricted mobility, and later on, in social isolation. Against this background, the project TERRAIN aims at developing a technical guidance system for orientation and navigation in urban space. For the development of this assistance system, the project pursues an approach in which reflexive, responsive, and deliberative dimensions have been integrated to address the ethical, legal and social implications (ELSI) in a co-design process. This paper focuses on the participation of citizens independent of vision impairments in the project which provided a variety of relevant indications of impacts and potential technical adaptations from an ‘outer’ point of view. In addition, conclusions can be drawn about the existing desirability and acceptance of the technical solution among the potential users as well as their social environment of potential users. In addition, it turned out that the citizen participation process raised different expectations among the project partners. Therefore, this article evaluates the participation results from the perspective of the technology developers and the technology assessors.

Including ELSI research questions in newborn screening pilot studies

BackgroundThe evidence review processes for adding new conditions to state newborn screening (NBS) panels rely on data from pilot studies aimed at assessing the potential benefits and harms of screening. However, the consideration of ethical, legal, and social implications (ELSI) of screening within this research has been limited. This paper outlines important ELSI issues related to newborn screening policy and practices as a resource to help researchers integrate ELSI into NBS pilot studies. ApproachMembers of the Bioethics and Legal Workgroup for the Newborn Screening Translational Research Network facilitated a series of professional and public discussions aimed at engaging NBS stakeholders to identify important existing and emerging ELSI challenges accompanying NBS. ResultsThrough these engagement activities, we identified a set of key ELSI questions related to (1) the types of results parents may receive through newborn screening and (2) the initiation and implementation of NBS for a condition within the NBS system. ConclusionIntegrating ELSI questions into pilot studies will help NBS programs to better understand the potential impact of screening for a new condition on newborns and families, and make crucial policy decisions aimed at maximized benefits and mitigating the potential negative medical or social implications of screening.

Normative and conceptual ELSI research: what it is, and why it’s important

The Ethical, Legal, and Social Implications (ELSI) Research Program of the National Human Genome Research Institute sponsors research examining ethical, legal, and social issues arising in the context of genetics/genomics. The ELSI Program endorses an understanding of research not as the sole province of empirical study, but instead as systematic study or inquiry, of which there are many types and methods. ELSI research employs both empirical and nonempirical methods. Because the latter remain relatively unfamiliar to biomedical and translational scientists, this paper seeks to elucidate the relationship between empirical and nonempirical methods in ELSI research. It pays particular attention to the research questions and methods of normative and conceptual research, which examine questions of value and meaning, respectively. To illustrate the distinct but interrelated roles of empirical and nonempirical methods in ELSI research, including normative and conceptual research, the paper demonstrates how a range of methods may be employed both to examine the evolution of the concept of incidental findings (including the recent step toward terming them ‘secondary findings’), and to address the normative question of how genomic researchers and clinicians should manage incidental such findings.

The Extension of Legal Personhood in Artificial Intelligence.

The purpose of this paper is to illuminate the main ethical, legal and social implications (ELSIs) concerning social humanoid robots that have their base in artificial intelligence (AI). The main dilemma highlighted touches upon the expansion of the concept of legal personhood, and the attribution of appropriate legal responses to govern the future proliferation of AI systems vis-a-vis social humanoid robots. The paper cautions on the need to carefully reflect on notions of personhood and human dignity for AI systems, balanced against the underlying representation of values and behaviors that may threaten to erode the human rights discourse. Additionally, it questions the wisdom of the broad expanse of the European legal response to the development and use of AI systems.

Perceptions of students in health and molecular life sciences regarding pharmacogenomics and personalized medicine

BackgroundIncreasing evidence is demonstrating that a patient’s unique genetic profile can be used to detect the disease’s onset, prevent its progression, and optimize its treatment. This led to the increased global efforts to implement personalized medicine (PM) and pharmacogenomics (PG) in clinical practice. Here we investigated the perceptions of students from different universities in Bosnia and Herzegovina (BH) towards PG/PM as well as related ethical, legal, and social implications (ELSI). This descriptive, cross-sectional study is based on the survey of 559 students from the Faculties of Medicine, Pharmacy, Health Studies, Genetics, and Bioengineering and other study programs.ResultsOur results showed that 50% of students heard about personal genome testing companies and 69% consider having a genetic test done. A majority of students (57%) agreed that PM represents a promising healthcare model, and 40% of students agreed that their study program is well designed for understanding PG/PM. This latter opinion seems to be particularly influenced by the field of study (7.23, CI 1.99–26.2, p = 0.003). Students with this opinion are also more willing to continue their postgraduate education in the PM (OR = 4.68, CI 2.59–8.47, p < 0.001). Furthermore, 45% of students are aware of different ethical aspects of genetic testing, with most of them (46%) being concerned about the patient’s privacy.ConclusionsOur results indicate a positive attitude of biomedical students in Bosnia and Herzegovina towards genetic testing and personalized medicine. Importantly, our results emphasize the key importance of pharmacogenomic education for more efficient translation of precision medicine into clinical practice.

Human Brain Project: Ethics Management statt Prozeduralisierung von Reflexivität?

AbstractHuman Brain Project: Ethics Management or Proceduralization of Reflexivity? Everywhere, the reflexivity and responsibility of research and innovation is called for – the neurosciences being no exception. Undesirable side effects of scientific‐technical developments should be recognized early on and opportunities for participation by non‐scientific actors should be made available. In addition to the well‐known reflective programs such as Technology Assessment, Public Understanding of Science, Ethical Legal and Social Implications (ELSI) of Science, Science Communication and Citizen Science, a new program is emerging: Responsible Research and Innovation (RRI). With the dimensions of anticipation, reflexivity, inclusiveness and responsiveness advocated here, social accountability of research has just been expanded again: factually (applying to the scientific practice of all domains), temporally (becoming more and more permanent) and socially (involving more and more actors). The following study will first reconstruct the current prominence of RRI as the dynamics of a changing relationship between science and society, then explore into the claim and reality of RRI as documented in publicly available material. The observation: While RRI at the level of its program aims at legitimacy through democratization of knowledge production, the organization of RRI demonstrates highly orchestrated bureaucratic arrangements and procedures. In the case of the Human Brain Project, it thus becomes clear that and how RRI is being put to the service of supporting neuroinformatic big science through targeted reductions: it is mainly framed as ‘ethics management’ and hardly integrated into research practice or even public discourse.

Non-Invasive Prenatal Testing: Review of Ethical, Legal and Social Implications

Non-invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) from maternal blood has recently entered clinical practice in many countries, including Canada. This test can be performed early during pregnancy to detect Down syndrome and other conditions. While NIPT promises numerous benefits, it also has challenging ethical, legal and social implications (ELSI). This paper reviews concerns currently found in the literature on the ELSI of NIPT. We make four observations. First, NIPT seems to exacerbate some of the already existing concerns raised by other prenatal tests (amniocentesis and maternal serum screening) such as threats to women’s reproductive autonomy and the potential for discrimination and stigmatization of disabled individuals and their families. This may be due to the likely upcoming large scale implementation and routinization of NIPT. Second, the distinction between NIPT as a screening test (as it is currently recommended) and as a diagnostic test (potentially in the future), has certain implications for the ELSI discussion. Third, we observed a progressive shift in the literature from initially including mostly conceptual analysis to an increasing number of empirical studies. This demonstrates the contribution of empirical bioethics approaches as the technology is being implemented into clinical use. Finally, we noted an increasing interest in equity and justice concerns regarding access to NIPT as it becomes more widely implemented.

OP65 Genomics: From Horizon Scanning To National Health Policy

Introduction:Technology advances have resulted in cheaper and quicker genomic sequencing (panels, exomes, whole genomes). Uptake into clinical practice has been rapid despite limited consideration of workforce, patient safety, consent, practice standards, guidelines and cost benefit. AUD 150M (USD 113M) has been independently allocated to genomic initiatives by Australian state and federal governments that don't reflect a national approach to genomics.Methods:Modified horizon scanning (HS) methodology identified issues around genomic sequencing to be considered by governments regarding their support, or otherwise, before appropriate implementation and diffusion into local healthcare systems. A national jurisdictional advisory group was subsequently established that undertook extensive stakeholder consultation across Australia, including written submissions, over a four-month period.Results:HS identified that genomic sequencing is diffusing rapidly through the health system and flagged issues of pressing concern, including: workforce requirements; education, training and literacy for the medical workforce and community; infrastructure; data; and ethical, legal and social implications (ELSI). HealthPACT recommended a national coordinated approach to policy development across jurisdictional boundaries to ensure appropriate adoption of genomics. Stakeholder consultation confirmed overwhelming support for greater national coordination of the application of genomic knowledge in healthcare. Five strategic priorities were developed to support appropriate integration of genomics into health care for Australians: person-centered approach; workforce; financing; services; and, data. Three principles underpin strategic priorities: i) application of genomic knowledge is ethically, legally and socially responsible and community trust is promoted; ii) access and equity are promoted for vulnerable populations; and, iii) application of genomic knowledge to health care is supported and informed by evidence and research.Conclusions:HS identified significant policy, workforce, funding and sustainability issues already facing state and territory governments that would, in time, face the federal government. The National Health Genomics Policy Framework outlines an agreed high-level national approach to policy, regulatory and investment decision-making for genomics and was approved by all Australian health Ministers in November 2017.

AN ADAPTED STAGED CONSENT MODEL FOR RECRUITMENT AND INFORMED CONSENT IN READINESS COHORTS: THE PERSPECTIVE OF THE EUROPEAN PREVENTION OF ALZHEIMER’S DEMENTIA CONSORTIUM (EPAD)

To facilitate screening and recruitment of research participants and to reduce time and costs associated with traditional trials in Alzheimer's disease, researchers are setting up ‘readiness cohorts’. These cohorts are well-characterized populations of potential participants for recruitment into prevention or early treatment trials. In setting up such cohorts, researchers must make ethically challenging design decisions. Therefore, within the interdisciplinary Ethical, Legal and Social implications (ELSI) work package of the European Prevention of Alzheimer's Dementia (EPAD) project, we developed ethics guidelines for responsible development of a readiness cohort (the EPAD longitudinal cohort study), including guidance on recruitment and informed consent. We used a mixed methods approach. First, we performed a literature review. Second, we held several meetings in person and by teleconference during 2015/2016 to discuss associated ethical dilemmas. Third, we organized multi-disciplinary group discussions within EPAD to create concrete broad-based ethics guidance for recruitment and informed consent. The longitudinal and transitional nature of a readiness cohort creates the risk of the cohort and its concatenated trials becoming a ‘fish trap’ for its participants. With every step further into such a research project, it becomes more difficult for a participant to go back or retract from participation. Therefore, we recommend an adapted staged-consent model for concatenated projects like EPAD, which are extended over time and multi-staged, and in which participants and data move from one stage to the next. This consent model feeds relevant information, bit by bit, along research participants’ journey, and asks informed consent at every moment in which important decisions need to be made by participants. Although informed consent is always given for a specific stage of the research project, information about the ‘totality of the project’ must always and explicitly be part of the informed consent process. It is critical to the success of readiness cohorts to carefully align ethical guidance for recruitment and informed consent. The ELSI work package of EPAD recommends an adapted staged-consent model. This model may also be of value to other research collaborations in the process of developing and using readiness cohorts in Alzheimer's disease research.

Stakeholder Perspectives on Public Health Genomics Applications for Sickle Cell Disease: A Methodology for a Human Heredity and Health in Africa (H3Africa) Qualitative Research Study

Abstract Advances in omics technologies alone are not a guarantee that science will translate to robust responsible innovation that is firmly grounded in societal values. This study aimed to identify best practices for Ethical, Legal, and Social Implications (ELSI) research in Africa that allows for optimal integration of community perspectives into the design and implementation of genomics research. In a large sample of 346 stakeholders in Cameroon, Ghana, and Tanzania (59% women), we used a qualitative study design with a phenomenological approach and conducted 32 group and 74 individual interviews (25% rural). We imported interview recordings into NVivo software for analysis. We created a “concept map” to organize the coded information, with Perspectives on Genomics and Sickle Cell Disease (SCD) Public Health Interventions as the central themes. We found that (1) analyses of major subthemes across and within countries revealed differential knowledge and experiences of SCD, and perspectives on various a...

Geneticizing Ethnicity and Diet: Anti-doping Science and Its Social Impact in the Age of Post-genomics.

While gene doping and other technological means of sport enhancement have become a topic of ethical debate, a major outcome from genomic research in sports is often linked to the regulation of doping. In particular, researchers within the field of anti-doping science, a regulatory science that aims to develop scientific solutions for regulating doped athletes, have conducted genomic research on anabolic-androgenic steroids. Genomic knowledge on anabolic-androgenic steroids, a knowledge base that has been produced to improve doping regulation, has caused the ‘geneticization’ of cultural objects such as ethnic identities and dietary habits. Through examining how anti-doping genomic knowledge and its media representation unnecessarily reify cultural objects in terms of genomics, I argue that Ethical, Legal, and Social Implications (ELSI) research programs in human enhancement should include the social impacts of anti-doping science in their discussions. Furthermore, this article will propose that ELSI scholars begin their academic analysis on anti-doping science by engaging with the recent ELSI scholarship on genomics and race and consider the regulatory and political natures of anti-doping research.

Active-learning Strategies for Legal Topics and Substance Abuse in a Pharmacy Curriculum

Objective. To implement active-learning strategies to engage students in learning, applying, and teaching legal and substance abuse topics. Design. Medication Safety course student groups created films on a National Patient Safety Goal (NPSG) using a movie genre and presented them in film festival format. Pharmacogenomics course student groups taught ethical, legal, and social implications (ELSI) topics through presentation of short stories about comic book characters with genetic mutations. Students in the Drugs of Abuse course composed and performed dances depicting the mechanism of action of a drug in an in-class rave dance format. Assessment. Course evaluations revealed student engagement with subject material and enjoyment of the creative applications, critical thinking, and collaborative aspects of the activities. Students performed well on examination questions and graded assignments. Conclusion. These active-learning strategies facilitated students' abilities to learn, apply, and teach material in medication safety, pharmacogenomics, and substance abuse courses.

Navigating social and ethical challenges of biobanking for human microbiome research

BackgroundBiobanks are considered to be key infrastructures for research development and have generated a lot of debate about their ethical, legal and social implications (ELSI). While the focus has been on human genomic research, rapid advances in human microbiome research further complicate the debate.DiscussionWe draw on two cystic fibrosis biobanks in Toronto, Canada, to illustrate our points. The biobanks have been established to facilitate sample and data sharing for research into the link between disease progression and microbial dynamics in the lungs of pediatric and adult patients. We begin by providing an overview of some of the ELSI associated with human microbiome research, particularly on the implications for the broader society. We then discuss ethical considerations regarding the identifiability of samples biobanked for human microbiome research, and examine the issue of return of results and incidental findings. We argue that, for the purposes of research ethics oversight, human microbiome research samples should be treated with the same privacy considerations as human tissues samples. We also suggest that returning individual microbiome-related findings could provide a powerful clinical tool for care management, but highlight the need for a more grounded understanding of contextual factors that may be unique to human microbiome research.ConclusionsWe revisit the ELSI of biobanking and consider the impact that human microbiome research might have. Our discussion focuses on identifiability of human microbiome research samples, and return of research results and incidental findings for clinical management.

A Community Effort to Protect Genomic Data Sharing, Collaboration and Outsourcing

The human genome can reveal sensitive information and is potentially re-identifiable, which raises privacy and security concerns about sharing such data on wide scales. In 2016, we organized the third Critical Assessment of Data Privacy and Protection competition as a community effort to bring together biomedical informaticists, computer privacy and security researchers, and scholars in ethical, legal, and social implications (ELSI) to assess the latest advances on privacy-preserving techniques for protecting human genomic data. Teams were asked to develop novel protection methods for emerging genome privacy challenges in three scenarios: Track (1) data sharing through the Beacon service of the Global Alliance for Genomics and Health. Track (2) collaborative discovery of similar genomes between two institutions; and Track (3) data outsourcing to public cloud services. The latter two tracks represent continuing themes from our 2015 competition, while the former was new and a response to a recently established vulnerability. The winning strategy for Track 1 mitigated the privacy risk by hiding approximately 11% of the variation in the database while permitting around 160,000 queries, a significant improvement over the baseline. The winning strategies in Tracks 2 and 3 showed significant progress over the previous competition by achieving multiple orders of magnitude performance improvement in terms of computational runtime and memory requirements. The outcomes suggest that applying highly optimized privacy-preserving and secure computation techniques to safeguard genomic data sharing and analysis is useful. However, the results also indicate that further efforts are needed to refine these techniques into practical solutions.

HUMAN-ROBOT SYNERGY FOR COOPERATIVE ROBOTS

This paper presents two human-robot cooperative application scenarios of the project MeRoSy (Human-Robot Synergy) funded by the German Federal Ministry of Education and Research. The first scenario relates to the human-robot cooperation in an industrial application, while the second one refers to the robotic workplace assistance for people with disabilities. The presented scenarios reflect different aspects of human-robot interaction, among others different novel possibilities for human-robot interaction depending on different physical abilities of human co-worker. Beside the consideration of the human-robot cooperative technologies in two MeRoSy scenarios, this paper considers also the identification and classification of the ethical, legal and social implications (ELSI) in the context of human-robot cooperation.