When a Diagnosis Has No Name: Uncertainty and Opportunity

Abstract

Diagnostic uncertainty, commonly encountered in rheumatology and other fields of medicine, is an opportunity: Stakeholders who understand uncertainty's causes and quantitate its effects can reduce uncertainty and can use uncertainty to improve medical practice, science, and administration. To articulate, bring attention to, and offer recommendations for diagnostic uncertainty, the Barbara Volcker Center at the Hospital for Special Surgery sponsored, in April 2021, a virtual international workshop, "When a Diagnosis Has No Name." This paper summarizes the opinions of 72 stakeholders from the fields of medical research, industry, federal regulatory agencies, insurers, hospital management, medical philosophy, public media, health care law, clinical rheumatology, other specialty areas of medicine, and patients. Speakers addressed the effects of diagnostic uncertainty in their fields. The workshop addressed the following six questions: What is a diagnosis? What are the purposes of diagnoses? How do doctors assign diagnoses? What is uncertainty? What are its causes? How does understanding uncertainty offer opportunities to improve all fields of medicine? The workshop's conveners systematically reviewed video recordings of formal presentations, video recordings of open discussion periods, manuscripts, and slide files submitted by the speakers to develop consensus takehome messages, which were as follows: Diagnostic uncertainty causes harm when patients lack access to laboratory test and treatments, do not participate in research studies, are not counted in administrative and public health documents, and suffer humiliation in their interactions with others. Uncertainty offers opportunities, such as quantifying uncertainty, using statistical technologies and automated intelligence to stratify patient groups by level of uncertainty, using a common vocabulary, and considering the effects of time.

Living with pulmonary sequelae of COVID‐19 and the implications for clinical nursing practice: A qualitative systematised review

“…The International Classification of Diseases does not yet recognise pulmonary sequelae as a subtype of long COVID (WHO, 2022), making this a vital area for patient advocacy by nurses. Medical diagnosis categorises medical abnormalities by differentiations that are often based on phenotypic (symptoms, physical findings, tests) and biotypic (genetics, biomarkers, inflammatory profiles) criteria (Lockshin et al, 2022). Patients value diagnoses because it provides a meaningful starting point for their health‐illness transition period.…”

“…Patients value diagnoses because it provides a meaningful starting point for their health‐illness transition period. A formal diagnosis validates patient symptoms, defines illness and initiates the context for subsequent therapy (Lockshin et al, 2022; Meleis, 2015). Nurses in various clinical positions may encounter patients with a broad diagnosis of ‘post‐COVID condition’ (WHO, 2022) with pulmonary sequelae characteristics such as the need for ongoing oxygen therapy, varying CT results and uncomfortable pulmonary symptoms.…”

Are Disease Classification Criteria for Diagnosis or for Research? In Fact, for Neither

“…15 We agree. Indeed, based on many factors, including disease prevalence, disease expression, as well as the type of medical practice, 16,17 such criteria would be unsuitable for rendering diagnoses in clinical practice.…”

Diagnoses Without Names

“…At the workshop, stakeholders from diverse fields discussed their views and priorities regarding diagnostic uncertainty. A summary paper briefly and without specific participant attribution outlines the workshop's points, conclusions, and recommendations [1].…”