Mildred Cho

The integration of genomics into public health and medicine is happening at a faster rate than the accrual of the capabilities necessary to ensure the equitable, global distribution of its clinical benefits. Uneven access to genetic testing and follow‐up care, unequal distribution of the resources required to access and participate in research, and underrepresentation of some descent groups in genetic and clinical datasets (and thus uncertain genetic results for some patients) are just some of the reasons to center justice in genomics. A more just genomics is an imperative rooted in the ethical obligations incurred by a publicly funded science that is reliant on human data. These features of genomics indebt the genomics enterprise and compel the expanded scope of responsibility proposed by the authors of this special report. The report begins to define justice in genomics for different stakeholder groups and proposes substantial shifts in power, resource distribution, scientific practice, and governance that could enable genomics to meet its obligations to humanity.

Ambient intelligence systems (AIS) are increasingly deployed to provide persistent, artificially intelligent, monitoring and documentation of healthcare. AIS pose many ethical issues, including risks to the privacy of third parties, pernicious biases in predictive analytics, and intractable conflicts between the interests of patients, family members and care providers. In this paper we argue that these risks cannot be effectively navigated by applying a traditional bioethical framework. The traditional bioethical framework focuses heavily on protecting the autonomy and interests of a patient within the context of a single decision. An AIS, on the other hand, occupies a physical space and thus implicates multiple stakeholders, with interests that may conflict, in a setting where individually opting out of the interaction may be impractical or infeasible. Hence, we argue that, like many questions arising in the context of public health ethics, they should be dealt with through a “justice-first” approach to ethical theorizing.

With the growth of precision medicine research on health data and biospecimens, research institutions will need to build and maintain long-term, trusting relationships with patient-participants. While trust is important for all research relationships, the longitudinal nature of precision medicine research raises particular challenges for facilitating trust when the specifics of future studies are unknown. Based on focus groups with racially and ethnically diverse patients, we describe several factors that influence patient trust and potential institutional approaches to building trustworthiness. Drawing on these findings, we suggest several considerations for research institutions seeking to cultivate long-term, trusting relationships with patients: Address the role of history and experience on trust, engage concerns about potential group harm, address cultural values and communication barriers, and integrate patient values and expectations into oversight and governance structures.

Background Genome scientists and Ethical, Legal, and Social Implications of genetics (ELSI) scholars commonly inhabit distinct research cultures – utilizing different research methods, asking different research questions, and valuing different types of knowledge. Collaborations between these two communities are frequently called for to enhance the ethical conduct of genomics research. Yet, little has been done to qualitatively compare genome scientists’ and ELSI scholars’ perspectives on collaborations with each other and the factors that may affect these collaborations.Methods 20 semi-structured interviews with US-based genome scientists and ELSI scholars were conducted between June–September 2021. Interviews were analyzed using inductive thematic analysis.Results Genome scientists and ELSI scholars provided different understandings of the value and goals of their collaborations with each other. Genome scientists largely perceived ELSI expertise to be relevant for human subjects research; they described ELSI scholars as communicators who help the public and/or study participants better understand genomics research. In comparison, ELSI scholars viewed themselves as developing and implementing policies; they expressed frustration at how scientists can misunderstand their research methods or negatively perceive them. A combination of factors – both structural (e.g., criteria for promotion) and cultural (e.g., perceptions of what colleagues value and respect) – seemed to shape these diverging perspectives.Conclusion Academic institutions, funders, and researchers commonly call for collaborations between genome scientists and ELSI scholars, but under-consider how their different conceptual frameworks, research methods, goals, norms, and values, conjoin to affect such partnerships. Acknowledging, exploring, and addressing the complex interplay between these factors could help to more effectively facilitate collaborations between genome scientists and ELSI scholars.

Background Researchers engaged in the study of the ethical, legal, and social implications (ELSI) of genetics and genomics are often publicly funded and intend their work to be in the public interest. These features of U.S. ELSI research create an imperative for these scholars to demonstrate the public utility of their work and the expectation that they engage in research that has potential to inform policy or practice outcomes. In support of the fulfillment of this “translational mandate,” the Center for ELSI Resources and Analysis (CERA), funded by the National Human Genome Research Institute (NHGRI), aims to facilitate community-informed, ELSI research results synthesis and dissemination. However, little is known about how ELSI research scholars define the goals of translation and imagine the intended users of their research findings.Methodology We distributed a Qualtrics survey to ELSI scholars that aimed to determine: (1) researchers’ expectations for their research findings in relation to policy or practice outcomes, (2) the stakeholder groups researchers believe could benefit from their research findings, and (3) the methods researchers use to foster the uptake of their findings by those stakeholders.Results Most ELSI researchers surveyed thought there were stakeholders that could benefit from their research findings, including health care professionals, at-risk individuals, patients, and their family members, policy-makers, and researchers/scientists, and expected their research findings to inform the creation or revision of laws, policies, or practice guidelines. Most researchers planned to disseminate findings directly to relevant stakeholders, with fewer expecting dissemination support from research funders, universities, or other entities.Conclusion The broad range of research topics, disciplines, and set of potential end users represented in ELSI reseach complicate the work of a knowledge broker. Nonetheless, the CERA can play an important role in disseminating ELSI results to relevant stakeholders. Further research should explore outreach mechanisms.

Background Machine learning (ML) is utilized increasingly in health care, and can pose harms to patients, clinicians, health systems, and the public. In response, regulators have proposed an approach that would shift more responsibility to ML developers for mitigating potential harms. To be effective, this approach requires ML developers to recognize, accept, and act on responsibility for mitigating harms. However, little is known regarding the perspectives of developers themselves regarding their obligations to mitigate harms.Methods We conducted 40 semi-structured interviews with developers of ML predictive analytics applications for health care in the United States.Results Participants varied widely in their perspectives on personal responsibility and included examples of both moral engagement and disengagement, albeit in a variety of forms. While most (70%) of participants made a statement indicative of moral engagement, most of these statements reflected an awareness of moral issues, while only a subset of these included additional elements of engagement such as recognizing responsibility, alignment with personal values, addressing conflicts of interests, and opportunities for action. Further, we identified eight distinct categories of moral disengagement reflecting efforts to minimize potential harms or deflect personal responsibility for preventing or mitigating harms.Conclusions These findings suggest possible facilitators and barriers to the development of ethical ML that could act by encouraging moral engagement or discouraging moral disengagement. Regulatory approaches that depend on the ability of ML developers to recognize, accept, and act on responsibility for mitigating harms might have limited success without education and guidance for ML developers about the extent of their responsibilities and how to implement them.

Background: Biomedical research is influenced by many factors, including the involvement of stakeholder groups invested in research outcomes. Stakeholder involvement in research efforts raises questions of justice as stakeholders’ specific interests and motivations play a role in directing research resources that ultimately produce knowledge, shaping how different conditions (and affected individuals) are understood and treated by society. This issue is highly relevant to child psychiatry research where diagnostic criteria and treatment strategies are often controversial. Biological similarities and stakeholder differences between attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) provide an opportunity to explore this issue by comparing research foci and stakeholder involvement in these conditions. Methods: A subset of ADHD and ASD research articles published between 1970 and 2010 were randomly selected from the PubMed database and coded for research focus, funding source(s), and author-reported conflicts of interest (COIs). Chi-squared analyses were performed to identify differences between and within ADHD and ASD research across time. Results: The proportion of ADHD research dedicated to basic, description, and treatment research was roughly similar and remained stable over time, while ASD research showed a significant increase in basic research over the past decade. Government was the primary research funder for both conditions, but for-profit funders were a notable presence in ADHD research, while joint funding efforts between nonprofit and government funders were a notable presence in ASD research. Lastly, COIs were noted more frequently in ADHD than in ASD research. Conclusions: Our study shows significant differences in research foci and funding sources between the conditions, and identifies the specific involvement of for-profit and nonprofit groups in ADHD and ASD, respectively. Our findings highlight the relationship between stakeholders outside the research community and research trajectories and suggest that examinations of these relationships must be included in broader considerations of biomedical research ethics.

Intellectual property in biotechnology invention provides important incentives for research and development leading to advances in genetic tests and treatments. However, there have been numerous concerns raised regarding the negative effect patents on gene sequences and their practical applications may have on clinical research and the availability of new medical tests and procedures. One concern is that licensing policies attempting to capture for the benefit of the licensor valuable rights to downstream research results and products may increase the financial risks and cliniinish potential payoffs of — and therefore motivation for — performing downstream research and development. In addition, very broad patent claims allowed by the U.S. Patent and Trademark Office, the sheer growth in patents claiming genetic sequences, and threats of overlapping patents create a veritable minefield for researchers in both academia and industry. The concern is that research may be stifled because of the high cost and hassle of negotiating access.

Institutional ethics consultation services for biomedical scientists have begun to proliferate, especially for clinical researchers. We discuss several models of ethics consultation and describe a team-based approach used at Stanford University in the context of these models. As research ethics consultation services expand, there are many unresolved questions that need to be addressed, including what the scope, composition, and purpose of such services should be, whether core competencies for consultants can and should be defined, and how conflicts of interest should be mitigated. We make preliminary recommendations for the structure and process of research ethics consultation, based on our initial experiences in a pilot program.

Objectives: To investigate life scientists’ views of accountability and the ethical and societal implications of research. Design: Qualitative focus group and one-on-one interviews. Participants: 45 Stanford University life scientists, including graduate students, postdoctoral fellows and faculty. Results: Two main themes were identified in participants’ discussions of accountability: the “how” of science and the “why” of science. The “how” encompassed the internal conduct of research including attributes such as honesty and independence. The “why,” or the motivation for conducting research, was two-tiered: first was the desire to positively impact the research community and science itself, and second was an interest in positively impacting the external community, broadly referred to as society. Participants noted that these motivations were influenced by the current systems of publications, grants and funding, thereby supporting a complex notion of boundary-setting between science and non-science. In addition, while all participants recognised the “how” of science and the two tiers of “why,” scientists expressed the need to prioritise these domains of accountability. This prioritisation was related to a researcher’s position in the academic career trajectory and to the researcher’s subsequent “perceived proximity” to scientific or societal concerns. Our findings therefore suggest the need for institutional change to inculcate early-stage researchers with a broader awareness of the implications of their research. The peer review processes for funding and publication could be effective avenues for encouraging scientists to broaden their views of accountability to society.

The US National Institute of Health’s Human Microbiome Project aims to use genomic techniques to understand the microbial communities that live on the human body. The emergent field of microbiome science brought together diverse disciplinary perspectives and technologies, thus facilitating the negotiation of differing values. Here, we describe how values are conceptualized and negotiated within microbiome research. Analyzing discussions from a series of interdisciplinary workshops conducted with microbiome researchers, we argue that negotiations of epistemic, social, and institutional values were inextricable from the reflective and strategic category work that defined and organized the microbiome as an object of study and a potential future site of biomedical intervention. Negotiating the divergence or tension between emerging scientific and regulatory classifications also activated “values levers” and opened up reflective discussions of how classifications embody values and how these values might differ across domains. These data suggest that scholars at the intersections of science and technology studies, ethics, and policy could leverage such openings to identify and intervene in the ways that ethical/regulatory and scientific/technical practices are coproduced within unfolding research.

Bioethics is reexamining how to implement diversity, equity, inclusion, and justice concerns into scholarship. However, bioethicists should question the categories used to define diversity. The act of categorization is value laden, and classification systems confer power and benefits and generate harms. For example, what conditions count as disabilities? We should consider the equity implications of offering only “male” and “female” options for self‐identification in health records. However, we should also interrogate all ideas about categorization, including how categories are formed, why they are formed, and who decides. Bioethicists cannot comprehend fully what equity and justice mean for underrepresented, underserved, or marginalized people until there is an understanding of how the boundaries of marginalization are created.

Digital contact tracing, in combination with widespread testing, has been a focal point for many plans to “reopen” economies while containing the spread of Covid‐19. Most digital contact tracing projects in the United States and Europe have prioritized privacy protections in the form of local storage of data on smartphones and the deidentification of information. However, in the prioritization of privacy in this narrow form, there is not sufficient attention given to weighing ethical trade‐offs within the context of a public health pandemic or to the need to evaluate safety and effectiveness of software‐based technology applied to public health.