Challenges in healthcare decision-making for rare diseases: exploring systemic heterogeneity and resource allocation in Chile

Rare diseases, or orphan diseases, affect fewer than 1 in 2,000 people, presenting unique challenges for healthcare systems due to their low prevalence. This study explores the complexities of healthcare decision-making in Chile, focusing on two interrelated themes: the heterogeneity of healthcare systems and the allocation of resources. Using reflexive thematic analysis of interviews with ten healthcare professionals specializing in rare diseases, the study investigates systemic and structural barriers affecting care. Findings reveal that the heterogeneity of Chile’s healthcare system creates disparities in diagnosis and treatment, particularly for patients in rural areas where resources are limited. Patients often experience a prolonged "diagnostic odyssey" due to healthcare professionals’ lack of knowledge and experience in identifying rare conditions. Resource allocation further complicates care, as decisions are frequently dictated by limited availability rather than clinical best practices. Legislative gaps, such as the restricted scope of the Ricarte Soto Law, exacerbate inequities by limiting access to essential treatments. This paper concludes by recommending targeted policy reforms, enhanced training for healthcare professionals, and the implementation of standardized diagnostic and treatment guidelines. These measures aim to address disparities and improve healthcare outcomes for individuals living with rare diseases, fostering a more equitable healthcare system in Chile.