Clinical genetics and public policies: how should rare diseases be managed?

The implementation of a specific policy for rare diseases in the Brazilian Unified Health System presents challenges in terms of its rationale. Recognizing the importance of rarity in the context of public health means understanding genetics as one of the dimensions of disease and accepting that Brazil is undergoing a period of transition in health indicators. Although most rare diseases lack pharmacological treatment and genetic counseling constitutes the best strategy for their prevention, the cost of "orphan drugs" and their consequent lack of cost-effectiveness are still claimed as hurdles to the implementation of public policies in this field. Epidemiological aspects should not be used as isolated criteria for prioritization in public policies

Bioética da proteção e tratamento de doenças genéticas raras no Brasil: o caso das doenças de depósito lisossomal / Principle of protection and treatment of rare genetic diseases in Brazil: the case of lysosomal storage disorders

This study aimed to discuss the morality of public funding for highly expensive orphan drugs for treatment of rare genetic diseases, using tools from bioethics, especially the principle of protection, applicable to vulnerable individuals and populations. Based on this principle, and considering the provisions of the Unified National Health System (SUS), the article argues for the state's moral obligation to provide public policies to ensure care for individuals with genetic diseases like lysosomal storage disorders, who can thus be viewed as "injured", besides suggesting measures to implement and ensure the sustainability of policies with an emphasis on resource allocation, targeting, and equity.

Este trabalho tem como objetivo discutir a moralidade do financiamento público das drogas órfãs, de altíssimo custo, para o tratamento de doenças genéticas raras, utilizando as ferramentas da Bioética, em especial o princípio da proteção, aplicável a indivíduos e populações vulneradas. Com base neste princípio, e considerando o contexto normativo constituído pelo Sistema Único de Saúde (SUS), argumenta-se sobre a obrigação moral do Estado de prover políticas públicas que assistam ao indivíduo portador de uma doença genética - como a de depósito lisossômico - e que pode, portanto, ser considerado, "vulnerado", bem como são sugeridas medidas que possam implementar e dar sustentabilidade a tais políticas com ênfase em questões de alocação de recursos, focalização e equanimidade.