Who Is Responsible for Promoting Equity in Rare Disease Research?

Stories of rare disease advocacy can elicit strong but ambivalent responses. It’s moving to read about the heroic efforts of parents “becoming drug developers to find a cure for their children’s rare diseases” (Whitlock 2022). But it’s sobering to realize how exceptional these accounts are. For every rare disease patient whose family launches a foundation, raises money, or partners with researchers in pursuit of a breakthrough for their child, there are millions without access to such resources (Hayden and Newman 2022). Halley and colleagues’ target article provides a painstaking analysis of these disparities, detailing multiple ways in which the demands of rare disease advocacy “inherently disadvantage those who lack social capital” (Halley et al. 2023). They conclude that “addressing these inherent inequities will require active commitment by and collaboration among all stakeholders in rare disease research and clinical care” and offer a helpful list of “opportunities to address equity” for various stakeholder groups (Halley et al. 2023). In this commentary, I focus on the context of rare disease research and ask not simply who has opportunities to address equity in this space, but who has a responsibility to do so. I begin by elaborating on Halley and colleagues’ distinction between disparities within and across rare disease areas. Next, I show how emerging models of research advocacy and support have the potential to deepen disparities in rare disease research. Finally, I offer some preliminary thoughts on how patient groups and government funding agencies should respond to these challenges, highlighting potential trade-offs that they face. Of the three case examples that make up the core of Halley and colleagues’ article, the case most directly focused on research and drug development— “Therapies for Spinal Muscular Atrophy: Successes and Challenges”—speaks primarily to equity concerns within patient communities. The authors show that spinal muscular atrophy (SMA) patients’ access to Spinraza and Zolgensma remains highly variable due to restrictive coverage policies used by public and private insurers to manage the staggering costs of the medications. As a result, the authors suggest, the benefits of SMA research are not fairly available to all patients within the SMA community. Patients’ ability to access promising therapies depends on whether they have the wherewithal to navigate insurance bureaucracies, contest coverage denials, and afford copays that can reach thousands of dollars a year. These concerns about equity within the SMA community are downstream from concerns about equity in research funding across rare disease areas. For all the access barriers that SMA patients face, therapeutic development in SMA is a “relative success story” in comparison to progress in other areas of rare disease research, which have not seen similar investments or scientific breakthroughs (Halley et al. 2023). What makes these differences in research funding particularly concerning from an equity perspective is that they track socioeconomic status. As Halley and colleagues write, “There is evidence to suggest that research in a given rare disease is dependent, at least in part, on the education, financial resources, and social capital of those families who happen to be affected by the disease” (Halley et al. 2023). This observation echoes long-standing concerns about the ways in which differences in resources and status among patient advocacy groups can drive disparities in research funding. Early criticism of these dynamics focused on patient groups’ ability to lobby for research funding in their disease areas. Writing more than two decades ago, for example, Rebecca