Orphan Diseases: Biosocial Loci and Regulatory Practices

Abstract

The article discusses the existing regulatory approaches to the problem of orphan (rare) diseases, conducts their ethical and philosophical analysis, and demonstrates the possibility of the influence of the ethical conceptual apparatus used in the framework of a particular approach on the stigmatization of certain groups of patients. The phenomenon of self-organization of patients with orphan diseases and the creation of public clusters (biosocial loci) in order to ensure their own rights to protect their health in the context of the genetization of society and the lack of public resources to meet the needs of healthcare is also investigated. It is concluded that the ethical principle of convergence of efforts is of relevance for solving the problems of orphan diseases. It causes a resonance and consequences both in relation to the formation of scientific knowledge and specific political steps to protect the rights of patients with orphan diseases. It is aimed at providing information support to patients and their families, exchanging databases of various diseases, forums for doctors and patients; creation of models for informing about orphan diseases, based not on the analysis of statistical data, but on the individual differences in the course of the disease, analysis of personal life experience with the disease; the formation of an extensive network of charitable organizations that raise funds to provide patients with essential medicines, as well as global multinational programs in the field of drug development; self-organization of patients; proactive integration of genetic technologies into the healthcare system with the goal of timely diagnosis of orphan diseases and the choice of treatment pathway; analysis of the problems of orphan diseases not only within the framework of the medical model of health and disability, but also the social model.