Clinical detection and attribution of common disease in exposed populations

Abstract

Abstract Introduction Routine clinical assessment may misdiagnose or underdiagnose diseases such as chronic kidney disease (CKD), asthma, and pulmonary fibrosis when it fails to account for work and environmental exposure risks. Existing research addresses these diagnostic failures separately, and no published review organizes the diagnostic challenge by stages. In this study, we reviewed the evidence on exposure-informed assessment and developed a clinical framework that illustrates the stages of diagnostic loss. Content Building on the principles of the HIV care cascade, we conducted a framework synthesis. We searched Europe PMC, web-based sources, grey literature, and major burden-estimation reports for literature published from January 2000 onward. All the identified studies were categorized into six stages, namely clinical detection; disease classification; etiological attribution; reporting or compensation; death registration; cause-of-death coding. These studies were also further subdivided based upon the type of evidence provided; whether they showed changes in individual patient diagnoses or were solely derived from population trends or associated clinical findings. Summary Sixty-one sources contributed 64 findings. One study documented a change in individual diagnoses after systematic exposure assessment. At the population level, two studies found associations between exposure and increased prevalence of idiopathic pulmonary fibrosis. Other studies described exposure-disease relationships including instances of gaps in screening and reporting, and limitations of gathering mortality records and accurately estimating disease burden. At the patient level, the evidence was sparse. Outlook This synthesis is hypothesis-generating. Routine clinical assessment may miss or misattribute common diseases when exposure history is treated as peripheral, instead of as a major part of the initial risk model. The clinical framework developed in this study demonstrates instances in which exposure-informed care could alter detection, classification, attribution, and management. Further studies are needed to establish and fully integrate it into clinical care.

The authors' abstract, as published at the source. Diagnosis, 2026 · DOI ↗