Equity in Health Technology Assessment for Rare Diseases in Chile

Abstract

Rare, uncommon, or orphan diseases pose a challenge to healthcare systems due to their low prevalence, high clinical complexity, and high treatment costs. In Chile, Health Technology Assessment (HTA) constitutes the primary mechanism for assessing the effectiveness, safety, economic impact, and ethical relevance of new health interventions. However, it presents limitations in incorporating dimensions of equity and well-being that are particularly relevant to these conditions. This article critically analyzes the current HTA approach in Chile by reviewing its regulatory framework, methodologies, financing mechanisms, and decision-making processes. The study employed an exploratory and descriptive mixed-methods approach, combining documentary analysis, regulatory review, and a questionnaire administered to key stakeholders in the healthcare system. The findings identify gaps in patient participation, quality-of-life assessment, the use of real-world evidence, the valuation of non-conventional outcomes, and the incorporation of explicit equity criteria. They also reveal tensions between financial sustainability, judicialization, and timely access to treatments. The results highlight the need to adapt HTA to the specific characteristics of rare diseases by incorporating criteria related to disease severity, caregiver burden, and territorial equity. The article proposes moving toward a more inclusive, transparent, and deliberative evaluation model that integrates equity as a guiding principle in decision-making.