Disease classification: A framework for analysis of contemporary developments in precision medicine

This essay synthesizes key analytical perspectives from the vast social science literature on disease classification spanning various disciplines. The aim is to develop a framework for analyzing changes in Western medicine framed under umbrella terms such as 'precision medicine' and 'personalized medicine.' I argue that understanding these contemporary changes in the conception and enactment of disease requires attention to historical developments in disease classifications. Spinal muscular atrophy is used as an example case to illustrate this argument. To guide further inquiry into the current move in biomedicine towards precision medicine, I outline two analytical dimensions-material and social interactionist aspects of disease classification-and show how these can be fruitfully combined. Possible starting points and questions for analysis are presented and discussed.