Ethical, Legal, And Social Implications Research Articles

Mapping ethical, legal, and social implications (ELSI) of preimplantation genetic testing (PGT).

Preimplantation Genetic Testing (PGT) has attracted considerable ethical, legal, and social scrutiny, but academic debate often fails to reflect clinical realities. Addressing this disconnect, a review of 506 articles from 1999 to 2019 across humanities and social sciences was conducted to synthesize the Ethical, Legal, and Social Implications (ELSI) of PGT. This review mined PubMed, WoS, and Scopus databases, using both MeSH terms and keywords to map out the research terrain. The findings reveal a tenfold increase in global research output on PGT's ELSI from 1999 to 2019, signifying rising interest and concern. Despite heightened theoretical discourse on selecting "optimal" offspring, such practices were scarcely reported in clinical environments. Conversely, critical issues like PGT funding and familial impacts remain underexplored. Notably, 86% of the ELSI literature originates from just 12 countries, pointing to a research concentration. This review underscores an urgent need for ELSI research to align more closely with clinical practice, promoting collaborations among ethicists, clinicians, policymakers, and economists. Such efforts are essential for grounding debates in practical relevance, ultimately steering PGT towards ethical integrity, societal acceptance, and equitable access, aiming to harmonize PGT research with real-world clinical concerns, enhancing the relevance and impact of future ethical discussions.

Developing a community-led rare disease ELSI research agenda.

Research priorities are best defined through engagement with communities who will be impacted by the research and have lived experience of the topics to be studied. We aimed to establish a pediatric rare disease community stakeholder group and empower them in (1) eliciting perspectives from affected families in the wider region and (2) synthesizing collective ideas into a research agenda focused on shared ethical, legal, and social implications (ELSI) across rare disease. This two-year project utilized a community-centered approach to engage rare disease community members as equal partners in developing a research agenda for ELSI in rare disease. We established "Rare Voices" (RV), a 22-member stakeholder group of patients, parents, clinicians and researchers. Following capacity-building trainings, RV designed and conducted listening sessions with teen patients and parents of children with rare diseases to explore challenges, positive experiences, and ethical concerns. Listening session findings were synthesized and contextualized into research topics, which RV members further refined and prioritized. We used established measures to assess RV member engagement and satisfaction. From 14 listening sessions with parents (n = 52) and teen patients (n = 13), RV identified eight core research topics as most important for future rare disease research: coordinating care, communication, accessing resources and care, impact on family unit, community and support in society, mental health and identity, ethical aspects of care, and uncertainty. RV members were highly engaged throughout the two-year project and reported high levels of satisfaction with the experience and research agenda. Through capacity-building and authentic engagement, this project resulted in a community-led rare disease research agenda to guide future rare disease ELSI research that aligns with patients' and families' priorities. An environment of equal partnership and respect created a space for mutual learning where community members were empowered to shape the research agenda based on their collective experiences. The agenda recognizes the shared psychosocial and healthcare experiences of rare disease and offers practical areas of research to address patient and family needs.

Employee Acceptance for AI Based Knowledge Transfer: Conception, Realization and Results of an ELSI+UX Workshop

German companies are currently facing challenges like the Demographic Change. Due to the retirement of many long-standing employees, companies risk losing tacit experimental know-how. This specific type of knowledge is difficult to capture and transfer to unexperienced workers. The objective of the research project “KI_eeper - Know how to keep” is to solve this challenge by using Artificial Intelligence (AI) for the development of a self-learning assistance system. Knowledge transfer as well as AI can cause fears among workforces, which hampers user acceptance of new AI-based tools. Therefore, the employees got proactively involved from an early development stage on through different measures, like e. g. workshops and process analyses. In particular the ELSI+UX workshop openly embraces potential challenges of AI implementation and the fears of employees. Furthermore, the employees get the chance to provide direct feedback about the technical solution of how user-friendly it is for their work process. This contribution focuses on the conception and realization of an ELSI+UX workshop. In the workshop the ethical, legal and social implications (ELSI) as well as user experience (UX) of the technical conception were assessed by the employees. This approach promoted substantial progress of the project and nurtured user acceptance of the AI system.

ScreenPlus: A comprehensive, multi-disorder newborn screening program

The increasing availability of novel therapies highlights the importance of screening newborns for rare genetic disorders so that they may benefit from early therapy, when it is most likely to be effective. Pilot newborn screening (NBS) studies are a way to gather objective evidence about the feasibility and utility of screening, the accuracy of screening assays, and the incidence of disease. They are also an optimal way to evaluate the complex ethical, legal and social implications (ELSI) that accompany NBS expansion for disorders. ScreenPlus is a consented pilot NBS program that aims to enroll over 100,000 infants across New York City. The initial ScreenPlus panel includes 14 disorders and uses an analyte-based, multi-tiered screening platform in an effort to enhance screening accuracy. Infants who receive an abnormal result are referred to a ScreenPlus provider for confirmatory testing, management, and therapy as needed, along with longitudinal capture of outcome data. Participation in ScreenPlus requires parental consent, which is obtained in active and passive manners. Patient-facing documents are translated into the ten most common languages spoken at our nine pilot hospitals, all of which serve diverse communities. At the time of consent, parents are invited to receive a series of online surveys to capture their opinions about specific ELSI-related topics, such as NBS policy, residual dried blood spot retention, and the types of disorders that should be on NBS panels. ScreenPlus has developed a stakeholder-based, collective funding model that includes federal support in addition to funding from 14 advocacy and industry sponsors, all of which have a particular interest in NBS for at least one of the ScreenPlus disorders. Taken together, ScreenPlus is a model, multi-sponsored pilot NBS program that will provide critical data about NBS for a broad panel of disorders, while gathering key stakeholder opinions to help guide ethically sensitive decision-making about NBS expansion.

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.

Advancing Precision Medicine with Gene and Cell Therapy in Malaysia: Ethical, Legal, and Social Implications.

A new era of gene and cell therapy for treating human diseases has been envisioned for several decades. However, given that the technology can alter any DNA/cell in human beings, it poses specific ethical, legal, and social difficulties in its application. In Malaysia, current bioethics and medical ethics guidelines tackle clinical trials and biomedical research, medical genetic services, and stem cell research/therapy. However, no comprehensive framework and policy is available to cater to ethical gene and cell therapy in the country. Incorporating ethical, legal, and social implications (ELSI) would be crucial to guide the appropriate use of human gene and cell therapy in conjunction with precision medicine. Policy experts, scientists, bioethicists, and public members must debate the associated ELSI and the professional code of conduct while preserving human rights.

Ethical, legal, and social implications of digital health: A needs assessment from the Society of Behavioral Medicine to inform capacity building for behavioral scientists.

The ethical, legal, and social implications (ELSIs) of digital health are important when researchers and practitioners are using technology to collect, process, or store personal health data. Evidence underscores a strong need for digital health ELSI training, yet little is known about the specific ELSI topic areas that researchers and practitioners would most benefit from learning. To identify ELSI educational needs, a needs assessment survey was administered to the members of the Society of Behavioral Medicine (SBM). We sought to identify areas of ELSI proficiency and training need, and also evaluate interest and expertise in ELSI topics by career level and prior ELSI training history. The 14-item survey distributed to SBM members utilized the Digital Health Checklist tool (see recode.health/tools) and included items drawn from the four-domain framework: data management, access and usability, privacy and risk to benefit assessment. Respondents (N = 66) were majority faculty (74.2%) from psychology or public health. Only 39.4% reported receiving "formal" ELSI training. ELSI topics of greatest interest included practices that supported participant engagement, and dissemination and implementation of digital tools beyond the research setting. Respondents were least experienced in managing "bystander" data, having discussions about ELSIs, and reviewing terms of service agreements and privacy policies with participants and patients. There is opportunity for formalized ELSI training across career levels. Findings serve as an evidence base for continuous and ongoing evaluation of ELSI training needs to support scientists in conducting ethical and impactful digital health research.

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.

The Ethical, Legal, and Social Implications of Genomics and Disability: Findings from a Scoping Review and Their Human Rights Implications

ObjectivesGenomic advancements affect people with disabilities. This paper presents the findings of a scoping literature review on the ethical, legal, and social implications (ELSI) of genomic technologies for people with disability. The human rights implications of the ELSI findings are then discussed briefly with reference to the United Nations Convention on the Rights of Persons with Disabilities (UNCRPD).MethodsA systematic search of the ELSI literature was conducted. Via a process of abstract screening and full-text review, 288 sources of evidence were included in the review. Data extraction involved identifying the ELSI discussed in each source, which were thematically analysed to generate ELSI themes and to identify relevant linkages to the UNCRPD.ResultsTen ELSI themes were identified as having relevant UNCRPD linkages including reproductive autonomy, issues related to cost and access, the downside of knowing about one’s genetic makeup, lagging legislation in light of the rapid advancement of genomic technologies, genetic discrimination, the stigmatisation and devaluation of people with disabilities, the potential resurgence of eugenics and the medical model of disability, and the involvement of people with disabilities in conversations about genomic technologies. These themes have relevant and direct linkages to several UNCRPD rights including equality, non-discrimination, diversity, accessibility, full participation, identity, and freedom of expression.ConclusionsThe review findings highlight that there is scope for the development of a charter on human rights specific to genomic technologies in the context of disability, which could guide ethical and socially appropriate developments in the field of genomic technologies in future.

Developing Consent Tools for the Research Community at the German Human Genome-Phenome Archive (GHGA)

The German Human Genome-Phenome Archive (GHGA) aims to enable the responsible sharing of human omics data for secondary research use across Germany and Europe. Informed consent is the most commonly used legal and ethical basis for processing omics data for secondary use. However, obtaining informed consent from Data Subjects can be challenging when data is to be widely shared and reused beyond the initial purpose of collection. To address these challenges, the ELSI (Ethical, Legal, and Social Implications) Group of GHGA has developed consent tools for the research community. First, we have developed a toolkit for prospective data collection, which consists of consent modules and complementary advice on how to update or create new consent forms. Second, we have created a legacy consent toolkit that can be used by researchers to assess whether the consent under which data was originally collected covers further data processing for secondary research purposes.

Ethical, legal, and social implications (ELSI) and challenges in the design of a randomized controlled trial to test the online return of cancer genetic research results to U.S. Black women

BackgroundA central challenge to precision medicine research efforts is the return of genetic research results in a manner that is effective, ethical, and efficient. Formal tests of alternate modalities are needed, particularly for racially marginalized populations that have historically been underserved in this context. MethodsWe are conducting a randomized controlled trial (RCT) to test scalable modalities for results return and to examine the clinical utility of returning genetic research results to a research cohort of Black women. The primary aim is to compare the efficacy of two communication modalities for results return: 1) a conventional modality that entails telephone disclosure by a Board-certified genetic counselor, and 2) an online self-guided modality that entails results return directly to participants, with optional genetic counselor follow-up via telephone. The trial is being conducted among participants in the Black Women's Health Study (BWHS), where targeted sequencing of 4000 participants was previously completed. ResultsSeveral ethical, legal, and social implications (ELSI) and challenges presented, which necessitated substantial revision of the original study protocol. Challenges included chain of custody, re-testing of research results in a CLIA lab, exclusion of VUS results, and digital literacy. Bioethical principles of autonomy, justice, non-maleficence, and beneficence were considered in the design of the study protocol. ConclusionThis study is uniquely situated to provide critical evidence on the effectiveness of alternative models for genetic results return and provide further insight into the factors influencing access and uptake of genetic information among U.S. Black women.Clinicaltrials.gov: NCT04407611

Mapping international research output within ethical, legal, and social implications (ELSI) of assisted reproductive technologies.

Research about ethical, legal, and social implications (ELSI) of assisted reproductive technologies (ART) is influenced by cultural and value-based perspectives. It impacts regulations, funding, and clinical practice, and shapes the perception of ART in society. We analyze trends in the global literature on ELSI of ART between 1999 and 2019. As most output is produced by North America, Western Europe, and Australia, we focus on international research, i.e., academic articles studying a different country than that of the corresponding author. The corpus, extracted from PubMed, Web of Science, and Scopus, includes 7714 articles, of which 1260 involved international research. Analysis is based on titles, abstracts and keywords, classification into ART fields and Topic Modeling, the countries of corresponding author, and countries mentioned in abstracts. An absolute increase in the number of international studies, and their relative proportion. Trends of decentralization are apparent, yet geographic centralization remains, which reflects an unequal distribution of research funds across countries and may result in findings that do not reflect global diversity of norms and values. Preference for studying conceptual challenges through philosophical analysis, and for fields that concern only a portion of ART cycles. Less attention was dedicated to economic analysis and barriers to access, or to knowledge of and attitudes. International studies provide an opportunity to expand and diversify the scope of ELSI research. We call on the research community to promote international collaborations, focus on less explored regions, and divert more attention to questions of cost, access, knowledge, and attitudes.

COMMUNICATING ELSI ISSUES IN NEUROBIOBANKING AND STROKE GENOMIC RESEARCH IN AFRICA: PROJECT INTERVENTION TOOLS DEVELOPMENT AND EVALUATION PROCEDURES

Background and aimsActivities about appropriate community engagement and communication of research outcomes with stakeholders have received the attention of scholars in different sub-fields of clinical research. However, given its novel nature, especially in Sub-Saharan Africa, community engagement addressing the ethical, legal, and social implications (ELSI) of neurobiobanking and stroke genomic research has not received much scholarly attention. Therefore, this study was designed to report the procedures for developing and evaluating intervention tools for the community engagement component of the African Neurobiobank for Precision Stroke Medicine ELSI Project. MethodsA community-based participatory research design was adopted to develop three intervention tools. An adapted Doak and Doak's Suitability Assessment Measure (SAM), the Agency for Healthcare Research and Quality (AHRQ) Patient Education Materials Assessment Tool (PEMAT), and semi-structured interview questions based on Willis’ Cognitive Interviewing Techniques were used to evaluate the suitability, actionability, understandability and cultural appropriateness of the tools. ResultsPEMAT mean percentage scores of 71.4% for actionability and 82.4% for understandability, and a SAM suitability score of 67.9% were reported for the videos. Identified weaknesses captured in seven thematic areas after analysis of assessment by experts and community members guided the final refinement of the tools. ConclusionThe overall reviewers’ reports and evaluation scores indicate that, generally, the intervention tools are suitable for community deployment in the sub-Saharan African setting. Clinical researchers must clearly define their policy objectives, partner with key stakeholders, define desired behaviour change, and develop appropriate strategies, tools of engagement and communication channels.

The promise of ELSI: coproducing the future of life on earth

ABSTRACT Scientific knowledge and authority are central to dire warnings of biodiversity loss and climate change, as well as corollary visions of pathways for environmental repair and the provision of future human wellbeing. Such articulations of futures possible through the advance of science and technology, and especially genetics, have been extensively studied by STS scholars concerned with the ways society, government, and capital are ordered in relation to these expectations. In the Human Genome Project, projections of future benefit reached almost mythical – for some alarming – proportions, and initiated the now familiar model of institutional funding of Ethical, Legal and Social Implications (ELSI) research. Following this model, the Earth Biogenome Project seeks to sequence the genomes of all life on earth, with expansive promises about the good that will follow. While the inclusion of an ELSI committee is treated as the application of a known model of social ordering, and as routine and natural for such a project, its remit and role in negotiating right modes of relationality between humans and the environment are neither straightforward nor well institutionalized. In so doing, the project contributes to the stabilization of a particular set of concepts and practices as constitutive of environmental ethics while at the same time constructing biodiversity in distinct ways that align with its vision of the scientific pursuit of good human futures. As such, the constructions of environmental ethics and biodiversity that the project advances are coproduced, contributing to the shared articulations of right human-environment relationships, and institutionalized practices for ordering the world accordingly.

Governing biotechnology to provide safety and security and address ethical, legal, and social implications.

The field of biotechnology has produced a wide variety of materials and products which are rapidly entering the commercial marketplace. While many developments promise revolutionary benefits, some of them pose uncertain or largely untested risks and may spur debate, consternation, and outrage from individuals and groups who may be affected by their development and use. In this paper we show that the success of any advanced genetic development and usage requires that the creators establish technical soundness, ensure safety and security, and transparently represent the product's ethical, legal, and social implications (ELSI). We further identify how failures to address ELSI can manifest as significant roadblocks to product acceptance and adoption and advocate for use of the "safety-by-design" governance philosophy. This approach requires addressing risk and ELSI needs early and often in the technology development process to support innovation while providing security and safety for workers, the public, and the broader environment. This paper identifies and evaluates major ELSI challenges and perspectives to suggest a methodology for implementing safety-by-design in a manner consistent with local institutions and politics. We anticipate the need for safety-by-design approach to grow and permeate biotechnology governance structures as the field expands in scientific and technological complexity, increases in public attention and prominence, and further impacts human health and the environment.

The ELSI Virtual Forum, 30 Years of the Genome: Integrating and Applying ELSI Research.

This paper reports our analysis of the ELSI Virtual Forum: 30 Years of the Genome: Integrating and Applying ELSI Research, an online meeting of scholars focused on the ethical, legal, and social implications (ELSI) of genetics and genomics.

Ethical, legal, and social implications of genetic risk prediction for multifactorial disease: a narrative review identifying concerns about interpretation and use of polygenic scores.

Advances in genomics have enabled the development of polygenic scores (PGS), sometimes called polygenic risk scores, in the context of multifactorial diseases and disorders such as cancer, cardiovascular disease, and schizophrenia. PGS estimate an individual's genetic predisposition, as compared to other members of a population, for conditions which are influenced by both genetic and environmental factors. There is significant interest in using genetic risk prediction afforded through PGS in public health, clinical care, and research settings, yet many acknowledge the need to thoughtfully consider and address ethical, legal, and social implications (ELSI). To contribute to this effort, this paper reports on a narrative review of the literature, with the aim of identifying and categorizing ELSI relating to genetic risk prediction in the context of multifactorial disease, which have been raised by scholars in the field. Ninety-two articles, spanning from 1977 to 2021, met the inclusion criteria for this study. Identified ELSI included potential benefits, challenges and risks that focused on concerns about interpretation and use, and ethical obligations to maximize benefits, minimize risks, promote justice, and support autonomy. This research will support geneticists, clinicians, genetic counselors, patients, patient advocates, and policymakers in recognizing and addressing ethical concerns associated with PGS; it will also guide future empirical and normative research.

The New Precision Stewards?

The precision health era is likely to reduce and respond to antimicrobial resistance (AMR). Our stewardship and precision efforts share terminology, seeking to deliver the “right drug, at the right dose, at the right time.” Already, rapid diagnostic testing, phylogenetic surveillance, and real-time outbreak response provide just a few examples of molecular advances we dub “precision stewardship.” However, the AMR causal factors range from the molecular to that of global health policy. Mirroring the cross-sectoral nature of AMR science, the research addressing the ethical, legal and social implications (ELSI) of AMR ranges across academic scholarship. As the rise of AMR is accompanied by an escalating sense of its moral and social significance, what is needed is a parallel field of study. In this paper, we offer a gap analysis of this terrain, or an agenda for “the ELSI of precision stewardship.” In the first section, we discuss the accomplishments of a multi-decade U.S. national investment in ELSI research attending to the advances in human genetics. In the next section, we provide an overview of distinct ELSI topics pertinent to AMR. The distinctiveness of an ELSI agenda for precision stewardship suggests new opportunities for collaboration to build the stewardship teams of the future.

What Role Does Regulation Play in Responsible Innovation of Nanotechnology in Food and Agriculture? Insights and Framings from U.S. Stakeholders

Historically, market regulation has played an important role in shaping the trajectory of scientific and technological innovation in food and agriculture. However, regulators’ traditional focus on safety and efficacy may be insufficient to address more complex ethical, legal, and social implications (ELSI) of novel products, such as the use of nanotechnology and nanomaterials in food and agriculture (nano-agrifoods). One solution might be to implement the principles of responsible innovation (RI) to challenge innovators and policymakers to better anticipate risks further upstream and be responsive to societal desires and concerns, although substantial barriers to implementation persist. This paper presents stakeholder views on the relationship between regulation and RI in nano-agrifoods based on a broader U.S. stakeholder engagement study conducted in the fall of 2020. We found that participants raised key issues that incorporated all 4 pillars of RI (anticipation, inclusion, reflexivity, responsiveness). We also found that participants’ attitudes about the relationship between regulation and innovation informed their recommendations about the relationship between regulation and RI. These attitudes are represented in a spectrum of views, ranging from “regulation as barrier” to “regulation as driver” of innovation. We further identified implications for how each attitude might be used to operationalize RI in regulatory systems. Overall, these results suggest that just as regulation drove key innovations in the twentieth century, regulation may still have a role to play in helping to promote RI of nano-agrifoods in the twenty-first.

25 Years of Molecular Psychology: The best is yet to come

This editorial defines the scope of the field of Molecular Psychology, which refers to the study of behavior and its underlying neural systems using the toolset of molecular biology, particularly molecular genetics and epigenetics. It is related to other well-established fields that use molecular tools in animal model organisms (Behavioral Neuroscience; Neuroethology) or that focus on molecular mechanisms of human mental health and disease (Molecular Psychiatry; Health Psychology), but extends beyond these fields by its inclusion of broad domains of human behavior; the precise molecular mechanisms by which environmental exposure and experiences modify gene expression; and the ethical, legal, and social implications (ELSI) of these discoveries. Considering the first 25 years of studies that included candidate gene and genome-wide association studies, I suggest a roadmap for the next decade of work. On the launch of F1000 Molecular Psychology: Brain, Behavior & Society, I hope this publication platform will become instrumental in growing this field by promoting a spirit of support and community among its practitioners, embracing transparency and rigor, and publishing novel ideas and studies ranging from pilot and proof-of-concept first steps to gold-standard definitive milestones.