Ethical, Legal, And Social Implications Issues Research Articles

Ethical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua

Genetic research presents numerous ethical, legal, and social implications (ELSI), particularly when the research involves collaborations between investigators in high and low-income countries. Some ELSI issues are universal, and others are specific to context and culture. This study investigates perceptions of genetic research in Nicaragua, Central America, where local and U.S. based researchers have collaborated for over a decade. A total of 43 residents from northwestern Nicaragua, a region with high mortality rates attributed to chronic kidney disease of non-traditional causes (CKDnt), were interviewed, including research participants in ongoing studies (n = 36), health professionals (n = 3), labor leaders (n = 2), and family members of research participants (n = 2). Questions focused on informed consent, data-sharing, and post-study expectations. Audio recordings of interviews conducted in Spanish were transcribed and translated into English. English transcripts were coded and analyzed using NVivo 12 software. The lack of familiarity with terms in the consent form presented a barrier to participant comprehension of key elements of the genetic research study, raising concerns about the validity of informed consent. Research participants often viewed their participation as access to health care. Health professionals emphasized the importance of long-term partnerships between foreign-based researchers and local health institutions. Leaders and family members recommended that they be informed of research studies and allowed the opportunity to consent, as they felt the benefits and risks of research also apply to them. Our findings identified genetic research practices to be improved upon in order to be more responsive to the contextual realities of collaborators living in low-resource settings.

The ethics of using COVID-19 host genomic information for clinical and public health decision-making: A survey of US health professionals

Several genetic variants linked to COVID-19 have been identified by host genomics researchers. Further advances in this research will likely play a role in the clinical management and public health control of future infectious disease outbreaks. The implementation of genetic testing to identify host genomic risk factors associated with infectious diseases raises several ethical, legal, and social implications (ELSIs). As an important stakeholder group, health professionals can provide key insights into these ELSI issues. In 2021, a cross-sectional online survey was fielded to US health professionals. The survey explored how they view the value and ethical acceptability of using COVID-19 host genomic information in three main decision-making settings: (1) clinical, (2) public health, and (3) workforce. The survey also assessed participants' personal and professional experience with genomics and infectious diseases and collected key demographic data. A total of 603 participants completed the survey. A majority (84%) of participants agreed that it is ethically acceptable to use host genomics to make decisions about clinical care and 73% agreed that genetic screening has an important role to play in the public health control of COVID-19. However, more than 90% disagreed that it is ethically acceptable to use host genomics to deny resources or admission to individuals when hospital resources are scarce. Understanding stakeholder perspectives and anticipating ELSI issues will help inform policies for hospitals and public health departments to evaluate and perhaps adopt host genomic technologies in an ethically and socially responsible manner during future infectious disease outbreaks.

An Ethics Checklist for Digital Health Research in Psychiatry: Viewpoint.

BackgroundPsychiatry has long needed a better and more scalable way to capture the dynamics of behavior and its disturbances, quantitatively across multiple data channels, at high temporal resolution in real time. By combining 24/7 data—on location, movement, email and text communications, and social media—with brain scans, genetics, genomics, neuropsychological batteries, and clinical interviews, researchers will have an unprecedented amount of objective, individual-level data. Analyzing these data with ever-evolving artificial intelligence could one day include bringing interventions to patients where they are in the real world in a convenient, efficient, effective, and timely way. Yet, the road to this innovative future is fraught with ethical dilemmas as well as ethical, legal, and social implications (ELSI).ObjectiveThe goal of the Ethics Checklist is to promote careful design and execution of research. It is not meant to mandate particular research designs; indeed, at this early stage and without consensus guidance, there are a range of reasonable choices researchers may make. However, the checklist is meant to make those ethical choices explicit, and to require researchers to give reasons for their decisions related to ELSI issues. The Ethics Checklist is primarily focused on procedural safeguards, such as consulting with experts outside the research group and documenting standard operating procedures for clearly actionable data (eg, expressed suicidality) within written research protocols.MethodsWe explored the ELSI of digital health research in psychiatry, with a particular focus on what we label “deep phenotyping” psychiatric research, which combines the potential for virtually boundless data collection and increasingly sophisticated techniques to analyze those data. We convened an interdisciplinary expert stakeholder workshop in May 2020, and this checklist emerges out of that dialogue.ResultsConsistent with recent ELSI analyses, we find that existing ethical guidance and legal regulations are not sufficient for deep phenotyping research in psychiatry. At present, there are regulatory gaps, inconsistencies across research teams in ethics protocols, and a lack of consensus among institutional review boards on when and how deep phenotyping research should proceed. We thus developed a new instrument, an Ethics Checklist for Digital Health Research in Psychiatry (“the Ethics Checklist”). The Ethics Checklist is composed of 20 key questions, subdivided into 6 interrelated domains: (1) informed consent; (2) equity, diversity, and access; (3) privacy and partnerships; (4) regulation and law; (5) return of results; and (6) duty to warn and duty to report.ConclusionsDeep phenotyping research offers a vision for vastly more effective care for people with, or at risk for, psychiatric disease. The potential perils en route to realizing this vision are significant; however, and researchers must be willing to address the questions in the Ethics Checklist before embarking on each leg of the journey.

The Spread of COVID-19 in China at Its Initial Stage: A Township-Level Analysis in Association with the Built Environment

Background: The built environment can contribute to the spread of the novel coronavirus disease (COVID-19) as well as other infectious diseases by facilitating human mobility and social contacts between infected and susceptible individuals. It can also provide a space that enables the direct transmission of pathogens to susceptible individuals. On the other hand, mobility data capturing interpersonal transmission at finegrain in large scale are not available. With the above background, we aim to assess the associations of key built environment factors, which create spaces for activities — “inferred activity” rather than “actually observed activity” — with the spread of COVID-19 in China at its initial stage. Method: In this nationwide study, we used a random forest (RF) approach to objectively assess the associations between the built environment factors and the spread of COVID-19. The spread is measured for 2 994 township-level administrative units in China by two indicators, the first of which is the ratio of cumulative infection cases (RCIC) that were confirmed until February 13, 2020 (14 days after stopping public transportation operations in all Chinese cities). The other indicator is the coefficient of variation of infection cases (CVIC) between February 6 and February 13, 2020, which reflects the policy effect in the initial stage of the spread. Accordingly, we selected 19 independent variables covering built environment attributes (e.g., urban facilities, transportation infrastructure, and land use), socioeconomic characteristics, and inter-city (from Hubei Province) population flow (PF). We also investigated the spatial agglomerations using a bivariate local indicators of spatial association (BiLISA) between the above two indicators of the spread. The data is from Amap, Resource and Environment Data Cloud Platform, Google Earth Engineer (GEE), Baidu direction lite API, Baidu Migration Production, Tencent, People's Daily, and other references.Findings: The spread of COVID-19 had obvious spatial agglomerations all across China. Clusters with both low RCIC and low CVIC at the same locations (Low-Low type) show the largest percentage, and are followed by the Low-High type. The Low-High type is more dangerous because clusters of low RCIC are surrounded by clusters with high CVIC which means that policy measures taken in the initial stage may be less effective to prevent/mitigate a rapid disease spread at these locations. The density of convenience shops, supermarkets, and shopping malls (DoCSS) along with PF were the two most important factors to RCIC, whereas PF was the most important factor to measure the policy effects (i.e., the CVIC). When the DoCSS as well as the density of road intersections (DoI), the density of gyms and sport centers (DoGSC) reach 21/km2, 72/km2, and 2/km2, respectively, positive associations of these density indicators with the RCIC become maximal and kept constant as the indicators further increase. Only after PF exceeds 75% its relationship with the RCIC starts showing a positive relationship with RCIC and the relationship keeps stable when the PF gets to 80%. For policy effects, the density of colleges and universities (DoCU) and the density of comprehensive hospitals (DoCH) had negative impacts on policy effects in the initial stage of the COVID-19 spread. Notably, when the DoCH was at less than 0.1/km2, it had a small positive trend. Accordingly, increasing betweenness centrality (BC) associated with increasing policy effect in the initial stage of COVID-19 spread before 5 000, and a reversed trend was observed after 5 000.Interpretation: First, the findings from this study do not support nationwide uniform measures against COVID-19 (e.g., lockdown and other restriction measures, or reopening of economic activities). Second, the built environment factors may be associated with mitigating or accelerating the spread of COVID-19. Third, the revealed thresholds of different built environment factors in association with the spread of COVID19 present insightful evidence on how to integrate urban and public health planning for future pandemics. Funding: This study is financially supported by two funds from Japan Science and Technology Agency. One of these funds is the J-RAPID Collaborative Research/Survey Program for Urgent Research framework which is titled, “Impacts of COVID-19 on the transport and logistics sector and countermeasures.” The other fund is the Ethical, Legal, and Social Implications/Issues (ELSI) research framework, “Responsible Innovation with Conscience and Agility,” which is titled, “Overcoming Vulnerability and Restoring Social Justice in Community and Re-designing Cities by Introducing Social Distancing."Declaration of Interests: The authors declare no competing interests.

Ethical Issues Posed by Field Research Using Highly Portable and Cloud-Enabled Neuroimaging

Highly portable, cloud-enabled neuroimaging technologies will fundamentally change neuroimaging research. Instead of participants traveling to the scanner, the scanner will now come to them. Field-based brain imaging research, including populations underrepresented in neuroscience research to date, will enlarge and diversify databases and pave the way for clinical and direct-to-consumer (DTC) applications. Yet these technological developments urgently require analysis of their ethical, legal, and social implications (ELSI). No consensus ethical frameworks for mobile neuroimaging exist, and existing policies for traditional MRI research are inadequate. Based on literature review and ethics analysis of neurotechnology development efforts, Shen etal. identify seven foundational, yet unresolved, ELSI issues posed by portable neuroimaging: (1) informed consent; (2) privacy; (3) capacity to accurately communicate neuroimaging results to remote participants; (4) extensive reliance on cloud-based artificial intelligence (AI) for data analysis; (5) potential bias of interpretive algorithms in diverse populations; (6) return of research results and incidental (or secondary) findings to research participants; and (7) responding to participant requests for access to their data. The article proposes a path forward to address these urgent issues.

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.

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.

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.

Genomics and infectious disease: a call to identify the ethical, legal and social implications for public health and clinical practice.

Advances in genomics are contributing to the development of more effective, personalized approaches to the prevention and treatment of infectious diseases. Genetic sequencing technologies are furthering our understanding of how human and pathogen genomic factors - and their interactions - contribute to individual differences in immunologic responses to vaccines, infections and drug therapies. Such understanding will influence future policies and procedures for infectious disease management. With the potential for tailored interventions for particular individuals, populations or subpopulations, ethical, legal and social implications (ELSIs) may arise for public health and clinical practice. Potential considerations include balancing health-related benefits and harms between individuals and the larger community, minimizing threats to individual privacy and autonomy, and ensuring just distribution of scarce resources. In this Opinion, we consider the potential application of pathogen and host genomic information to particular viral infections that have large-scale public health consequences but differ in ELSI-relevant characteristics such as ease of transmission, chronicity, severity, preventability and treatability. We argue for the importance of anticipating these ELSI issues in advance of new scientific discoveries, and call for the development of strategies for identifying and exploring ethical questions that should be considered as clinical, public health and policy decisions are made.

Development and progress of Ireland's biobank network: Ethical, legal, and social implications (ELSI), standardized documentation, sample and data release, and international perspective.

Biobank Ireland Trust (BIT) was established in 2004 to promote and develop an Irish biobank network to benefit patients, researchers, industry, and the economy. The network commenced in 2008 with two hospital biobanks and currently consists of biobanks in the four main cancer hospitals in Ireland. The St. James's Hospital (SJH) Biobank coordinates the network. Procedures, based on ISBER and NCI guidelines, are standardized across the network. Policies and documents-Patient Consent Policy, Patient Information Sheet, Biobank Consent Form, Sample and Data Access Policy (SAP), and Sample Application Form have been agreed upon (after robust discussion) for use in each hospital. An optimum sequence for document preparation and submission for review is outlined. Once consensus is reached among the participating biobanks, the SJH biobank liaises with the Research and Ethics Committees, the Office of the Data Protection Commissioner, The National Cancer Registry (NCR), patient advocate groups, researchers, and other stakeholders. The NCR provides de-identified data from its database for researchers via unique biobank codes. ELSI issues discussed include the introduction of prospective consent across the network and the return of significant research results to patients. Only 4 of 363 patients opted to be re-contacted and re-consented on each occasion that their samples are included in a new project. It was decided, after multidisciplinary discussion, that results will not be returned to patients. The SAP is modeled on those of several international networks. Biobank Ireland is affiliated with international biobanking groups-Marble Arch International Working Group, ISBER, and ESBB. The Irish government continues to deliberate on how to fund and implement biobanking nationally. Meanwhile BIT uses every opportunity to promote awareness of the benefits of biobanking in events and in the media.

Grand challenge: ELSI in a changing global environment

Grand challenge: ELSI in a changing global environment

Perspectives on Human Microbiome Research Ethics

Study of ethical, legal, and social implications (ELSI) of human microbiome research has been integral to the Human Microbiome Project (HMP). This study explores core ELSI issues that arose during the first phase of the HMP from the perspective of individuals involved in the research. We conducted semi-structured in-depth interviews with investigators and NIH employees ("investigators") involved in the HMP, and with individuals recruited to participate in the HMP Healthy Cohort Study at Baylor College of Medicine ("recruits"). We report findings related to three major ELSI issues: informed consent, data sharing, and return of results. Our findings demonstrate that investigators and recruits were similarly sensitive to these issues yet generally comfortable with study design in light of current knowledge about the microbiome.

Genes and plays: bringing ELSI issues to life

AbstractEthical complexities surround the promise of genomic technology and the power of genetic information as they alter conceptions of identity and dynamics within personal and professional relationships. Creative approaches such as dramatic vignettes offer a unique analytical stage for imagining the bioethical past and future. Dramatic narratives can bring to life images of differing perspectives and values when experiencing innovations in medicine. Although the scientific landscape shifts, concerns expressed in theatre from 50 years ago parallel many contemporary ELSI (ethical, legal, and social implications) issues, highlighting the ongoing struggle to appreciate the impact of emerging genetic technologies on relationships. To illuminate these enduring concerns, we explore how perceptions and relationships have influenced—and been influenced by—genetics as portrayed through dramatic vignettes. We build on the legacy of using case vignettes as a clinical teaching modality, and believe similar value exists within the research ethics domain. The selection of dialogue discussed encompasses abbreviated excerpts from two existing and one original vignette that we staged at the ELSI 2011 Congress and various academic and health institutions.Genet Med 2012:14(2):274–277

Successful Implementation of Genetic Education for Native Americans Workshops at National Conferences

Genetic Education for Native Americans (GENA) was a National Human Genome Research Institute (NHGRI)/Ethical, Legal, and Social Implications (ELSI)-funded educational intervention designed to provide a unique genetics education program for Native American college and university students. A curriculum was developed and implemented in workshops in geographically diverse settings throughout the United States, primarily in conjunction with regional and national scientific conferences that include substantial numbers of Native American attendees. The original curriculum includes 24 objectives and has been offered in two formats, as a 16-hr "comprehensive" program and in briefer workshops (referred to as "customized" hereafter) that are designed to include objectives for selected audiences. Both formats teach sufficient genetics to allow discussion and understanding of the ELSI and cultural issues related to genetics science. This article describes the evaluation findings from our implementation of both formats of the GENA curriculum.