Rare diseases, orphan drugs and policies for evaluating and incorporating technologies into health systems

Abstract

This work discusses the problem of rare diseases and orphan drugs in the context of the medical science and practice, especially regarding the technological development, innovation, evaluation and incorporation of technologies in health systems and their impacts on theory, practices and policies on Health Technology Assessment (HTA). A thematic review of scientific literature was conducted involving the areas of Medicine, Sociology of Medicine, Health Science and Technology and Public Health, in order to provide an interdisciplinary approach to the issue. The study focuses on rare diseases caused by genetic mutations, as they are paradigmatic for understanding the challenges posed to the medical field. Since the 1970s, changes have occurred in Medicine, in the ways of diagnosing, classifying and studying such diseases, from clinical, laboratorial and epidemiological perspectives, as well as in the development of technologies for prevention and intervention. As of 1970, HTA has developed as an area of knowledge and practice aimed at contributing to the scientific and institutional foundations of innovation policies in health systems. Countries have been facing challenges to the sustainability of their health systems, which stem from scientific and technological development and medical innovations, economic and political power of corporations, increased expectations, aging populations and political and social inequalities. Discourses carrying disparate scientific, technological and political views on medicine and health policies coexist, posing difficulties to dialogue. Meanwhile, society, marginalized from the world of specialists, faces many problems in understanding such discourses, being heard and participating in the construction of new perspectives on health and disease that offer answers to their problems.