From the margins to the mainstream: the changing production of knowledge about rare diseases
Paul Martin (University of Sheffield, UK)
Panel: Production of knowledge and knowledge practices in rare diseases
Abstract: This paper presents a conceptual overview and analysis of changes in the regime of knowledge production associated with rare monogenic diseases brought about by a convergence of technical, commercial, economic, regulatory and biopolitical factors. It will trace the recent expansion of this assemblage, including the growing number of genes and diagnostics associated with rare conditions as a result of Whole Genome Sequencing and the massive increase in new therapies for rare disease, including cell and gene therapy. This is also reflected in the emergence of novel business strategies in the biopharma industry based on increasing “orphanisation” and greater patient engagement. Patient organisations themselves are becoming more embedded in the production on new knowledge through their involvement in drug development. Data will be presented to illustrate important sociotechnical change in each of these key domains and linked to shifts in the regime of normativity that governs ethical and biopolitical claims around rare diseases. In particular, it will be argued that new discourses about the “right to a cure” and patient access to high cost medicines are being actively mobilised by industry and patient groups as the emphasis of the field shifts from diagnosis to therapy. The power of these claims has major implications for health policy, the governance of medicines and the distribution of resources in health care systems.