Health systems implications of rare genetic conditions in low- and middle-income countries: a case study approach

Abstract

A resilient and responsive health system providing universal health coverage is one that is able to cope with both the commonplace conditions faced by the majority as well as rare conditions, particularly when experienced by more marginalised groups. This is critical to ensure that under the sustainable Development Goals agenda, no one is left behind. Low- and middle-income economies are in the process of refining their health systems to respond to the epidemiological and demographic transition. However, with economic development comes the requirement for an ethical transition; the need to justify, with some transparency, the allocation of resources for the less common, but often more expensive conditions. Drawing on a case study of a rare genetic condition, this paper highlights the various pathways in the system that support or hinder access to care, to identify the policy directions for rare diseases in resource constrained settings.

Keywords:

• Rare diseases
• universal health coverage
• catastrophic spending

Acknowledgements

We acknowledge the critical role played by the SEACO field operations team. Funding for SEACO is provided by the Monash University campuses in Australia and Malaysia, the Faculty of Medicine, Nursing and Health Sciences, the Jeffrey Cheah School of Medicine and Health Sciences and the Faculty of Arts. Ethics approval for the establishment of SEACO is covered by MUHREC CF11/3663 – 2011001930. SEACO has associate membership of the INDEPTH Network.