Over the last decade, the landscape of rare disease research has evolved rapidly. Advances in genomic sequencing and the increasing availability of gene therapies suggest a future in which children born with otherwise catastrophic rare genetic conditions may live longer and relatively healthy lives. These technologies are also coming to fruition amid intense public discussions of justice, or the lack thereof, in healthcare and medical research. In this paper, we argue that addressing these disparities in the context of rapid advances in genomics will require reimagining how rare disease research is conducted and consider equity throughout the translational pipeline. Using the case of pediatric gene therapy research, we propose broadening the application of respect for persons, increased expectations for institutional trustworthiness, a more robust inclusion of diverse rare disease patients, and a reprioritization of research questions that address disparities within rare disease communities. Reconceptualizing the core principles of gene therapy research through an equity lens is particularly salient for underserved rare disease families who have historically been excluded from research and may be less likely to benefit from study outcomes. Through this presentation we reimagine the principle of beneficence as recognizing a wider range of potential benefits of research participation and encourage mechanisms to better alleviate burdens. We further consider the extent to which achieving justice will require thoughtful and committed engagement with diverse patient communities throughout the research process. We conclude with a discussion of the potential roles of ELSI scholars in seeding these changes within genomics more broadly.
Authors: Aaron Goldenberg, Case Western Reserve University; Meghan Halley, Stanford Center for Biomedical Ethics; Holly Tabor, Stanford Center for Biomedical Ethics
