Note: This essay is one of two editorials in The American Journal of Bioethics’ ELSIcon Special Issue (Volume 23, Issue 7). Read every article here.
The timing of this special issue of AJOB probing whether public engagement (PE) might help achieve equity in genomics is no coincidence. While many issues discussed by the authors are not entirely new, they are brought to the fore by a series of recent scientific advances and societal changes that have fed upon each other. Advances in genetic and genomic technologies have brought about a million-fold reduction in the cost of producing complete genome sequences. These advances are intertwined with the implementation of powerful computational methods; expanded data sharing policies; integration of genomic information in health care; and direct-to-consumer genetic services, most prominently, tests that combine health, ancestry, and other traits. The sharing of information (and disinformation) broadly through social media has produced a public that is increasingly aware about genetic and genomic sciences. The prominent profile of genetic science is coterminous with current events that have brought issues surrounding the past, racism, and structural inequities into living rooms.
This convergence has prompted those in bioethics and genomics to examine how their intersecting fields have actively promoted “science” that has played a role in maintaining and expanding inequities. Recent statements from professional societies acknowledge and apologize for harmful behaviors. Endeavors such as the National Human Genome Research Institute (NHGRI) History of Genomics Program are also bringing to light scholarship that deeply interrogates the historical legacies of eugenics and scientific racism and their present-day manifestations.
To be clear: These are not merely exercises in looking back. Inequities remain readily apparent in genomics and precision medicine today, from a persistent lack of diverse representation in data repositories, to a workforce that does not reflect the demographics of our United States population, to concerns about access to costly emerging gene editing interventions. Disrupting these legacies of injustice requires nothing less than a sustained all-hands-on-deck effort to “refocus on equitable access to the benefits of scientific knowledge”.
As to a way forward, at least for biomedical research, a recent report from the National Academies of Science, Engineering, and Medicine (NASEM) tackles the issue of how we use population descriptors in genomics research. In addition to recommending the careful selection of a more expansive but tailored series of descriptors to move beyond race, this panel addresses the role of participants and communities. They recommend that researchers “work in ongoing partnerships with study participants and community experts to integrate the perspectives of the relevant communities and to inform the selection and use of population descriptors”. The report cites equity and justice among the guiding principles that this recommendation supports, insofar as engaging communities helps researchers “to avoid reproducing hierarchical thinking and to consider biases that may produce inequities”.
How to avoid producing or perpetuating inequities is the heart of this special issue of AJOB, which pushes us to consider, cautiously and with skepticism, the role of a variety of PE approaches for determining what is equitable in the context of genomics and precision medicine:
Science tends to get done. Governments at national levels do regulate, but they play catchup, often not doing anything until science has moved on to the next thing. PE may have many benefits, but can advancing equity or influencing policy be legitimately claimed among them? (Conley, Cadigan, and Davis 2023, 15)
With 65 cumulative years between us engaging with genomic research and its ethical, legal, and social implications, we are invested in the belief that PE can and should influence policy in ways that help to advance equity. Public input and participation are essential components of responsible governance, and PE has long been understood to be a vital approach for building trust, for demonstrating respect for communities, and even for promoting health equity. There is growing recognition in the global bioethics literature that “in a quest toward decoloniality and epistemic justice, it is imperative that ethics recommendations and guidelines equally draw on the experiences, values, ways of being and becoming and philosophies of the people to whom they apply”. Developing ethical guidelines and policies that align with the values of those most directly affected increases the likelihood that more tailored recommendations will be broadly supported and successfully implemented.
The articles in this issue explore genomics and PE in the context of research funding, governance of emerging technologies, accessibility of services and information, and diversity and inclusion efforts in personalized medicine. The range of topics and methodologies represented herein renders generalizations difficult. However, we learn that the circumstances under which PE can advance equity are quite limited and dependent upon who and how we engage, as well as who is doing the engaging. We also learn that the incorrect approach can backfire by giving us the mistaken belief that we have succeeded or—even worse—by exacerbating the very inequities such engagement seeks to remedy.
Decisions regarding recruitment for PE seem to require normative assessments of who is relevant, preferred, affected, informed—or in other words, who is considered valuable to the PE process. As nations wrestle with issues of governance and policymaking, those invited to the table may include representatives from broad groups, such as “the public at large,” “citizens,” or “civil society.” Invited groups may be defined by their expertise or the role they are asked to play during engagement (e.g., scientific, leadership, educator). In the presence of imbalanced power structures, groups may be characterized along racial, ethnic, cultural, or indigeneity lines, or shared experiences of being minoritized, marginalized, or underrepresented. Finally, an individual’s status in the context of public health or health care may define a relevant group (e.g., members of a target population, such as people of reproductive age or rare disease patients). As such, “publics” can be distinguished by perceptions of their shared expertise, lived experiences, or interests, as well as by what their conveners are seeking to accomplish, such as being educated by a group about an issue, or by what the public itself is hoping to achieve, such as advocating for additional resources.
Ensuring that publics (however defined and recruited) are adequately prepared for PE is a related challenge that these articles collectively interrogate. Ideally, we would live in a society that proactively strives to ensure that people are well informed through equity in public education and equal access to information. These efforts are important supports for participants to feel equipped and empowered to meaningfully participate in PE. In their absence, however, how might PE preparation be best facilitated or ensured?
Given that the depth and extent of PE can vary, so to would corresponding strategies. At one extreme, PE through public opinion polling is briefly mentioned and dismissed as “likely to be impeded by uninformed and ill-informed opinions, and [thereby] of limited value”. More deliberative approaches may be of greater value precisely because they include proactive efforts to educate participating publics about the topics to be discussed. However, proactive efforts can produce unintended consequences. First, in an effort to achieve consensus, the PE process may “shape participants’ thinking—however unintentionally—through the preliminary education of the deliberating group”. Second, the utilization of more top-down approaches may lead to an indoctrination of those participating in the deliberations, along with a failure to represent or adequately account for the views of marginalized groups. On the other end of the spectrum, PE may rely—perhaps too heavily and unjustly—on patient-initiated or patient-driven motivations.
Overall, this collection of articles suggests that PE is more likely to be effective when it includes a small number of representatives from the “relevant public” who are aware of local community positions and are able and empowered to assert those positions. This empowerment requires that those organizing or receiving the PE “[create] an opportunity for everyone’s thinking on the topic to be broadened”. This starts to give us a sense of what true deliberative public engagement might look like.
In the absence of a national reckoning in the United States, it falls to the professional disciplines of genomics and bioethics to proactively draw upon the tools of transitional justice.
However, both Ferryman and Halley and colleagues raise important critiques of PE efforts whose approaches can be antithetical to their professed goals. In the context of race and genetics, Ferryman utilizes Creary’s theory of bounded justice to explain that “‘attempts at health justice and reparation’ … are ‘bounded by larger societal, systemic and structural factors,’” including racism and racialization of groups, which can go “unrecognized” in efforts made to include marginalized groups in PE. Among rare disease patients forced to engage with the health care system on their own behalf (i.e., self-advocacy), Halley et al. note a parallel form of epistemic injustice, “whereby [patient] knowledge and input are unfairly rejected due to systemic biases embedded in the practice of medicine” despite the effort of patients “‘to be seen as a ‘credible patient.’” Both self-advocacy within a biomedical system plagued with power differentials and disparities, and community engagement efforts that render racism and other forms of marginalization invisible, create undue burdens on and even further disadvantage the very groups for whom we are seeking to advance equity.
We cannot help but notice that the more successful examples of PE enumerated in this issue of AJOB are embedded within Australia and South Africa, two countries that have at least begun to undertake at a national level the processes required by transitional justice to reckon with their legacies of racism, colonization, and apartheid. Their work provides some important clues regarding how we may achieve more powerful and effective engagements with marginalized groups in place of performative and empty approaches that merely offer oppressed groups a seat at the table but “fail to recognize the fundamental, even existential, exclusion” they face. Ultimately, bounded justice informs us that it will not be possible “to attend to fairness, entitlement, and equity when the basic social and physical infrastructures underlying them have been eroded by racism and other historically entrenched isms”. With societal inequity remaining a challenge, Ferryman poses questions for reflection regarding whether our PE efforts render communities and their experiences hypervisible and/or invisible, and whether we may have overlooked or underrepresented the capacities and assets that people bring to the table.
In the absence of a national reckoning in the United States, it falls to the professional disciplines of genomics and bioethics to proactively draw upon the tools of transitional justice—truth-telling, institutional reform, and reconciliation, in active consultation with relevant publics—in a more focused way. This special issue of AJOB is situated on the cusp of an emerging commitment by these professional disciplines to reckon with their historical failures to address structural injustices under which health disparities have been able to persist. We are grateful to the authors and editors for grappling with challenging questions about how to bring public voices effectively into that emerging conversation through PE.
Sara Chandros Hull, PhD is Director of the Bioethics Core, National Human Genome Research Institute (NHGRI), at National Institutes of Health (NIH).
Lawrence C. Brody, PhD is the Directors of the NHGRI Division of Genomics and Society, and Senior Investigator, NHGRI Social and Behavioral Research Branch at NIH.
Rene Sterling, PhD, MHA is the Program Director for the NHGRI Division of Genomics and Society at NIH.