Plastic diagnostics: The remaking of disease and evidence in personalized medicine

Abstract

Politically authorized reports on personalized and precision medicine stress an urgent need for finer-grained disease categories and faster taxonomic revision, through integration of genomic and phenotypic data. Developing a data-driven taxonomy is, however, not as simple as it sounds. It is often assumed that an integrated data infrastructure is relatively easy to implement in countries that already have highly centralized and digitalized health care systems. Our analysis of initiatives associated with the Danish National Genome Center, recently launched to bring Denmark to the forefront of personalized medicine, tells a different story. Through a "meta-taxonomy" of taxonomic revisions, we discuss what a genomics-based disease taxonomy entails, epistemically as well as organizationally. Whereas policy reports promote a vision of seamless data integration and standardization, we highlight how the envisioned strategy imposes significant changes on the organization of health care systems. Our analysis shows how persistent tensions in medicine between variation and standardization, and between change and continuity, remain obstacles for the production as well as the evaluation of genomics-based taxonomies of difference. We identify inherent conflicts between the ideal of dynamic revision and existing regulatory functions of disease categories in, for example, the organization and management of health care systems. Moreover, we raise concerns about shifts in the regulatory regime of evidence standards, where clinical care increasingly becomes a vehicle for biomedical research.