Standards and legacies: Pragmatic constraints on a uniform gene nomenclature

Abstract

Over the past half-century, there have been concerted efforts to standardize how clinicians and medical researchers refer to genetic material. However, practical and historical impediments thwart this goal. In the current paper I argue that the ontological status of a genetic mutation cannot be cleanly separated from its pragmatic role in therapy. Attempts at standardization fail due to the non-standardized ends to which genetic information is employed, along with historical inertia and unregulated local innovation. These factors prevent rationalistic attempts to ‘modernize’ what is otherwise trumpeted as the most modern of the medical sciences.