The emergence of rare diseases: Genealogy of a concept reshaping the borders of biomedical knowledge

Abstract

This paper explores the category of “rare diseases” in its genealogical dimension, through a socio-cultural analysis of its appearance and its re-conceptualization in different contexts. In order to do this, it goes back to the beginning of Twentieth Century, when the US pharmaceutical market began to take shape through a complex interaction between the productive activities of pharmaceutical companies and the supervision of the government. In this period, discourses able to depict sufferings in a statistical way appeared, marginalising afflicted people who were not “profitable enough” for the pharmaceutical market. The concepts of “orphan drug” and “rare disease” arose in the public arena to express these people’s presence. Over time, these categories acquired new meanings, characterized itself through a politics of numbers which made them recognisable not just in the socio-political field. When the concept of “rare disease” was spread in Europe, it became subject to a deep resemantization, mainly associated to clinical-epidemiological criteria. Therefore, “rare diseases” began to fulfill a very different role: driven by pharmaceutical companies that aimed to find new market niches, they were transformed when complex government apparatuses about them arose. To conclude, we analyse how the biomedical epistemology itself has been reshaped by these phenomena.