Diagnosis: a critical social reflection in the genomic era

Abstract

Diagnosis is a pivotal tool for the work of medicine as they categorise and classify individual ailments via a generalised schema. However diagnosis is also a profoundly social act, which reflects society, its values and how it makes sense of illness and disease. Considering diagnosis critically, as well as practically, is an important job of the sociologist. This paper reviews how a social model can provide a critical tool for viewing diagnosis in the genomic era. It explores how the formulation of diagnosis, be it via genetic explanations or microbiological ones, are the product of social discovery, negotiation, and consensus.

Re-imagining ‘the patient’: Linked lives and lessons from genomic medicine

“…As Jutel (2019) argues “As genetic explanations for ailments multiply and the science around genetic disease moves ineluctably forward, there is concomitant rise in social issues related to this new diagnostic paradigm” (p. 3621). The mainstreaming of genomic medicine and the shift from single gene to WGS means that increasing numbers of individuals and families– including those ‘at risk’ or ‘healthy carriers’ rather than clinically ill - are likely to encounter such testing ( Peterson, 2005 ; Bharadwaj et al, 2007 ; Gilbar and Barnoy, 2018 ; Dheensa et al, 2017 ; Horton et al, 2019 ).…”

‘That thing in his head’: Aboriginal and non‐Aboriginal Australian caregiver responses to neurodevelopmental disability diagnoses

“…Diagnosis serves a critical function in organising illness, identifying and providing pathways to treatments, and predicting likely outcomes. Fully appreciating diagnosis requires an appreciation of how diagnoses sit within the wider context of social forces, interactions and relationships (Blaxter 2004, Blum 2015, Jutel 2009, Jutel 2019). As sociological contributions have demonstrated, much of the practice of diagnosis is often taken for granted, with reported professional labels glossing over the ways in which diagnostic work is embodied (Gardner and Williams 2015, Maslen 2016), and a product of communication between the doctor and patient (Turowetz and Maynard 2019) with the potential for clinical uncertainty (Rafalovich 2005, Rasmussen 2017).…”

Infancias, diagnósticos y salud mental: discursos sobre el trastorno por déficit de atención e hiperactividad en la región de Los Lagos, Chile (2020-2021)

“…Es por ello que, para efectos de esta investigación, estos diagnósticos representan tanto una categoría como un proceso, es decir, son producto de un sistema de clasificación proveniente de un saber médico-científico que busca agrupar, ordenar y reducir una variedad infinita de fenómenos desordenados y dispersos en conjuntos ordenados y codificables, buscando establecer un lenguaje compartido y traducible. De igual modo, significa un proceso por el cual la categoría diagnóstica se inscribe en "lo social", sea como una construcción desde las instituciones y los profesionales que participan en ella o como una experiencia vivida desde los sujetos diagnosticados (29) .…”