A matter of terminology, when terminology matters: naming common genetic diseases

Abstract

In recent years, the rapid evolution of scientific research on DNA has unlocked the codes to genetic conditions and contributed unveiling the causes of diseases once unknown. All this brought about a number of economic issues regarding private and public investment in research, treatment and prevention (e.g. advertising and screening campaigns), which are especially prominent in the case of common (vs rare) genetic diseases. Furthermore, genetic diseases with a high phenotypical impact (HIP), involve more social stigma and are thus particularly ethically connoted. Not only, the advancement of medical (genetic) science usually goes hand in hand with a change in terminology. Most genetic diseases’ denominations are either eponyms, as they were identified and labeled after the name of the physician that first clinically observed and described them (e.g.: Down syndrome, Williams syndrome, Pick syndrome, Marfan syndrome, etc.), or popular names indicating the physical appearance of the patient (e.g.: dwarfism), which sometimes include even disparaging variant words (e.g.: mongol, mongoloid, etc.). Due to directions from WHO and other institutional medical authorities, the scientific community is being invited not to use ambiguous terms in medical intra- and inter-specialised communications, as well in non-specialised encounters, such as the medical-patient interview. This paper aims to offer a brief diachronic description of the terminological change undergone by some common genetic pathologies in the last years both at the specialist and popular levels. This will be conducted by comparing two small corpora from the British Medical Journal and Scientific American to see if and how much terminological directions from medical authorities have been met. The analysis will make use of both quantitative and qualitative methods and the perspective adopted will be that of Critical Discourse Analysis, for the socially relevant issues that the topic addresses.