ELSIcon2022 • Paper • May 27, 2022
Meghan Halley, Colin Halverson, Marsha Michie
Rare genetic diseases affect an estimated 330 million individuals worldwide. These patients often struggle to achieve a diagnosis, to access knowledgeable providers for their condition, and to manage high healthcare costs. Even when diagnosed, over 90% of rare diseases lack an approved therapy, leaving patients with few options for treatment. Addressing the many challenges faced by rare disease patients and families will require tackling both new and longstanding questions including: How do the lived experiences of rare disease patients and families shape their goals and values related to research and healthcare? How do sociopolitical disparities intersect to shape these experiences? And what role do diverse stakeholders – including patients, families, advocacy organizations, academic institutions, healthcare systems, and industry partners – play in both fueling and addressing these challenges? Answering these questions will require theoretical and methodological tools designed to examine both the micro-level nuances of individual experiences and the complex relationships among macro-level contextual factors shaping these experiences. As a discipline, anthropology is particularly well-suited to addressing these types of complex questions. Distinct characteristics of anthropological inquiry include: a) embedded, ethnographic research and participant observation through sustained community engagement; b) a close examination of individuals’ subjective experience; and c) multi-level analyses that examine how larger social, institutional, political, and economic factors shape individual and community well-being. In this paper, we highlight the value of anthropological theory and methods for addressing complex challenges in rare disease and provide a roadmap for incorporating anthropological approaches in this area through multidisciplinary collaboration.