Uncertainty and the inconvenient facts of diagnosis

Abstract

One common contemporary usage of the term "diagnostic uncertainty" is to refer to cases for which a diagnosis is not, or cannot, be applied to the presenting case. This is a paradoxical usage, as the absence of diagnosis is often as close to a certainty as can be a human judgement. What makes this sociologically interesting is that it represents an "epistemic defence," or a means of accounting for a failure of medicine's explanatory system. This system is based on diagnosis, or the classification of individual complaints into recognizable diagnostic categories. Diagnosis is pivotal to medicine's epistemic setting, for it purports to explain illness via diagnosis, and yet is not always able to do so. This essay reviews this paradoxical use, and juxtaposes it to historical explanations for non-diagnosable illnesses. It demonstrates how representing non-diagnosis as uncertainty protects the epistemic setting by positioning the failure to locate a diagnosis in the individual, rather than in the medical paradigm.

Stalling or oiling the engines of diagnosis? Shifting perspectives on the DSM and categorical diagnosis in psychiatry

“…Again, then, a partly pragmatic as well as epistemic defence (cf. Jutel, 2021, p. 2) of diagnosis was offered—one which cast this as essential to medicine and so to the professional identity of psychiatrists. At the same time, R17 reported a somewhat idiosyncratic use of diagnosis in practice: ‘we also make diagnoses that don’t exist, like we will say someone’s stressed, because that’s not a diagnosis , but it’s a useful shorthand to deal with patients, GPs’.…”

Democratising or disrupting diagnosis? Ethical issues raised by the use of AI tools for rare disease diagnosis

“… “Diagnosis is medicine’s primary classification tool. It determines treatment and prognosis, allocates resources, differentiates lay from professional, and provides a hierarchy of authority within the professions” ( Jutel, 2021 : 2). …”

“…As Jutel (2021) notes, diagnosis plays a fundamental role in medical practice; the identification and classification of bodily symptoms as markers of disease is important for many medical tasks, including: providing aetiological explanations, treatment decision-making and prognosticating. The act of diagnosis typically involves the resolution of uncertainty, deciding whether observed symptoms are evidence for a particular underlying disease or not ( Jutel, 2021 ; Topol, 2019 ). In many cases, but not all, this uncertainty is resolved and patients are provided with a diagnostic label and associated treatment plan.…”

“…In her recent discussion of diagnostic uncertainty and the act of diagnosis, Jutel (2021) observes that a failure to provide a diagnosis is seen as stemming from an individual clinician's indecision or cognitive biases rather than a failure of the classificatory system of medicine itself. This human-centred conceptualisation of diagnostic uncertainty is underpinned by a top-down view of diagnosis, which involves “… rapid reflexive hypothesis generation …” ( Topol, 2019 , p. 44), and relies on: a clinician's ability to perceive symptoms holistically, engage in intuitive thinking and use their tacit knowledge.…”

“…Constructing the failure to provide diagnoses as a human rather than a systemic failure may provide an epistemic defence for the practice of medicine ( Jutel, 2021 ), but does little to help individual patients who remain undiagnosed and unable to access appropriate care. Three and a half million people within the United Kingdom have a rare disease ( European Commission , n.d.), many of these are children who have a developmental delay.…”