Rare genetic diseases collectively impact millions of individuals in the United States. These patients and their families share many challenges including delayed diagnosis, lack of knowledgeable providers, and limited economic incentives to develop new therapies for small patient groups. As such, rare disease patients and families often must rely on advocacy, including both self-advocacy to access clinical care and public advocacy to advance research. However, these demands raise serious concerns for equity, as both care and research for a given disease (...) can depend on the education, financial resources, and social capital available to the patients in a given community. In this article, we utilize three case examples to illustrate ethical challenges at the intersection of rare diseases, advocacy and justice, including how reliance on advocacy in rare disease may drive unintended consequences for equity. We conclude with a discussion of opportunities for diverse stakeholders to begin to address these challenges. (shrink)

In a recent public engagement study on heritable human genome editing (HHGE) conducted among South Africans, participants approved of using HHGE for serious health conditions—viewing it as a means of bringing about valuable social goods—and proposed that the government should actively invest resources to ensure everyone has equal access to the technology for these purposes. This position was animated by the view that future generations have a claim to these social goods, and this entitlement justified making HHGE available in the (...) present. This claim can be ethically justified in the Ubuntu ethic (deriving from South Africa) as it (a) emphasizes the interests of the community, and (b) espouses a metaphysical conception of the community that transcends the present generation and includes past and future generations. On this basis, a compelling claim can be made on behalf of prospective persons in favor of equal access to HHGE. (shrink)

Background In the wake of mandates for biomedical research to increase participation by members of historically underrepresented populations, community engagement (CE) has emerged as a key intervention to help achieve this goal.Methods Using interviews, observations, and document analysis, we examine how stakeholders in precision medicine research understand and seek to put into practice ideas about who to engage, how engagement should be conducted, and what engagement is for.Results We find that ad hoc, opportunistic, and instrumental approaches to CE exacted significant (...) consequences for the time and resources devoted to engagement and the ultimate impacts it has on research. Critical differences emerged when engagement and research decisionmaking were integrated with each other versus occurring in parallel, separate parts of the study organization, and whether community members had the ability to determine which issues would be brought to them for consideration or to revise or even veto proposals made upstream based on criteria that mattered to them. CE was understood to have a range of purposes, from instrumentally facilitating recruitment and data collection, to advancing community priorities and concerns, to furthering long-term investments in relationships with and changes in communities. These choices about who to engage, what engagement activities to support, how to solicit and integrate community input into the workflow of the study, and what CE was for were often conditioned upon preexisting perceptions and upstream decisions about study goals, competing priorities, and resource availability.Conclusions Upstream choices about CE and constraints of time and resources cascade into tradeoffs that often culminated in “pantomime community engagement.” This approach can create downstream costs when engagement is experienced as improvised and sporadic. Transformations are needed for CE to be seen as a necessary scientific investment and part of the scientific process. (shrink)

Decades of public investment in molecular technologies and data integration techniques have fueled promises of precision medicine (PM) as a novel, targeted, and data-driven approach that takes into...

Halley et al. (2023) highlight important equity challenges emerging out of existing health policy’s reliance on self- and family advocacy. As advocacy capacity varies dramatically across groups, pu...

Recent national calls for ethical, legal, and social implications (ELSI) research to “assess and address how ethical, historical, social, economic, legal, regulatory, socio-cultural, and contextual...

Dive et al. argue to limit the scope, scale, and quantity of results in genomic screening programs at the population level. Their analysis offers two interrelated reasons for this recommendation: f...

Halley and colleagues highlight important aspects of advocacy and justice in rare disease and provide recommendations for stakeholders to encourage progress toward equity and justice. In the rare d...

Genomic screening at population scale generates many ethical considerations. One is the normative role that people’s preferences should play in determining access to genomic information in screening contexts, particularly information that falls beyond the scope of screening. We expect both that people will express a preference to receive such results and that there will be interest from the professional community in providing them. In this paper, we consider this issue in relation to the just and equitable design of population screening (...) programs like reproductive genetic carrier screening (RGCS). Drawing on a pluralistic public health ethics perspective, we claim that generating and reporting information about genetic variants beyond the scope of the screening program usually lacks clinical, and perhaps personal, utility. There are both pragmatic and ethical reasons to restrict information provision to that which fits the stated purpose of the program. (shrink)

In “Obligations of the ‘Gift’: Reciprocity and Responsibility in Precision Medicine,” Lee rightly points out that disparities in health care access also lead to disparities in precision medi...

I take up the call for a more nuanced engagement with race in bioethics by using Creary’s analytic of bounded justice and argue that it helps illuminate processes of racialization, or racial formation, specifically Blackness, as a dialectical processes of both invisibility and hyper-visibility. This dialectical view of race provides a lens through which the ethical, legal, and social implications (ELSI) of genetics and genomics field can reflect on fraught issues such as inclusion in genomic and biomedical research. Countering or (...) interrupting racialization in precision medicine can involve asking how marginalized groups are made invisible or hyper-visible in various aspects of the research process. Incorporating these kinds of questions into biomedical research inclusion efforts could lead to potentially powerful engagements with marginalized groups and could provide the opportunity for stakeholders to engage with the ways that racialization can happen in real-time and might undermine good intentions. (shrink)

Programs, policies, and technologies — particularly those concerned with health equity — are often designed with justice envisioned as the end goal. These policies or interventions, however, frequently fail to recognize how the beneficiaries have historically embodied the cumulative effects of marginalization, which undermines the effectiveness of the intended justice. These well-meaning attempts at justice are bounded by greater socio-historical constraints. Bounded justice suggests that it is impossible 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. Using the case of Brazil’s National Health Policy for the Black Population, this paper proposes that bounded justice can contribute to justice discourses by serving as a concept, a proffering to a multi-disciplinary conceptual framework, and a potential analytic for those interested in the design of policy, technology, and programmatic interventions towards health equity. (shrink)