DiagnosisPub Date : 2025-09-02DOI: 10.1515/dx-2025-0033
Matheus Bento de Souza, José Nunes de Alencar
{"title":"The disproportionate impact of pre-test probability estimation errors: an analysis across different pre-test probability contexts.","authors":"Matheus Bento de Souza, José Nunes de Alencar","doi":"10.1515/dx-2025-0033","DOIUrl":"https://doi.org/10.1515/dx-2025-0033","url":null,"abstract":"<p><strong>Objectives: </strong>Diagnostic reasoning in clinical medicine is permeated by uncertainty. This study aims to analyze how errors in the estimation of pre-test probability affect the application of Bayesian inference in diagnostic reasoning.</p><p><strong>Methods: </strong>We examined the propagation of pre-test probability misestimation through Bayes' Theorem, focusing on its interaction with different likelihood ratios and pre-test probabilities. The analysis explored the mathematical consequences of prior misestimation on post-test probability estimation.</p><p><strong>Results: </strong>We demonstrate that misestimation of prior probabilities has a nonlinear impact on posterior probabilities, with errors propagating differently depending on the likelihood ratio of the diagnostic test and the real pre-test probability. Misestimated priors can produce substantial distortions in posterior probabilities, leading to misplaced confidence in diagnostic test results.</p><p><strong>Conclusions: </strong>Accurate estimation of pre-test probability is essential for the validity of Bayesian diagnostic reasoning. Objective and evidence-based approaches to pre-test probability estimation are necessary to minimize diagnostic errors and to enhance the reliability of clinical decision-making.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144946500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosisPub Date : 2025-08-22DOI: 10.1515/dx-2025-0052
Giuseppe Lippi, Brian Jackson, Mario Plebani
{"title":"Improving diagnosis in health care: laboratory medicine.","authors":"Giuseppe Lippi, Brian Jackson, Mario Plebani","doi":"10.1515/dx-2025-0052","DOIUrl":"https://doi.org/10.1515/dx-2025-0052","url":null,"abstract":"<p><p>Accurate and timely diagnosis remains one of the most complex and challenging processes in medicine. Diagnostic errors pose a significant burden on patients and healthcare systems, with laboratory-related errors playing a substantial role, especially in the pre- and post-analytical phases of the testing process. However, recent innovations have mitigated some key challenges by optimizing workflows and reducing human errors. Notable advancements include automated systems for specimen check-in, preparation, aliquoting and storage for downstream analysis. Technologies such as automated interference detection, alongside sensors monitoring specimen volume and integrity, have enhanced standardization and reliability. Automated sample storage and retrieval systems have improved traceability and retrospective analyses while preserving specimen integrity. In the analytical phase, automation has facilitated real-time anomaly detection, enabling reflex or repeat testing to ensure result accuracy. The multiple integration of different analytical platforms, coupled with automated quality control features, has reduced inter-system variability, minimized manual errors and enhanced efficiency. Advancements in molecular and genetic diagnostics have enabled more precise and personalized treatments, reducing ineffective therapies and side effects. The ongoing deployment of lab-on-a-chip technology, integration of artificial intelligence, and reinforced patient safety culture highlight the vital role of continuous innovation in laboratory medicine to enhance patient safety. However, several challenges remain, including diagnostic errors from test result misinterpretation, poor sample quality, regulatory and compliance constraints, limited data sharing among laboratories, high cost of advanced diagnostic tools and shortage of trained laboratory professionals and pathologists. Addressing these barriers is essential for further safeguarding patient safety.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144946525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Association between referral letters and diagnostic errors: a single-center, cross-sectional study in general internal medicine in Japan.","authors":"Sakura Kamiya, Toshinori Nishizawa, Hiroki Ozawa, Yukinori Harada, Takashi Watari, Taro Shimizu, Madoka Sakurai, Yuya Suzuki, Gautam A Deshpande, Hiroko Arioka","doi":"10.1515/dx-2024-0197","DOIUrl":"https://doi.org/10.1515/dx-2024-0197","url":null,"abstract":"<p><strong>Objectives: </strong>Referral documentation may either contribute to diagnostic excellence or play a role in diagnostic errors (DEs), but its exact impact remains unclear. This study investigates the association between referral documentation and DEs among patients initially evaluated by another hospital or department and subsequently referred to the general internal medicine (GIM) outpatient clinic of an acute care tertiary hospital in Japan.</p><p><strong>Methods: </strong>This cross-sectional study analyzed outpatients who visited the GIM outpatient clinic between April 1, 2017 and March 31, 2023. Patients initially evaluated at another medical facility or department, who then visited the GIM outpatient clinic, and were subsequently readmitted unexpectedly within 14 days after GIM outpatient clinic visit were included. DEs were identified using the Revised Safer Dx Instrument. Errors were analyzed using the Diagnostic Error Evaluation and Research (DEER) taxonomy. Logistic regression analysis was performed to assess the relationship between referral letters and DEs.</p><p><strong>Results: </strong>Of 80 patients, 29 (36.3 %) experienced DEs. Referral letters were present for 52 (65.0 %) patients. The proportion of DEs was lower in the referred patients compared to non-referred patients (25.0 vs. 57.1 %; p-value=0.004). After adjusting for age, sex, race, multimorbidity, type of previous physicians, and post-graduate year of the GIM physician, the presence of a referral letter was associated with a substantially likelihood of DEs (OR=0.20, 95 % CI: 0.06-0.62, p-value=0.005).</p><p><strong>Conclusions: </strong>The presence of a referral letter facilitates accurate diagnoses while markedly reducing DEs. Healthcare systems should consider promoting the proper use of referral systems.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144946560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosisPub Date : 2025-08-22DOI: 10.1515/dx-2025-0108
Agostino Ognibene, Giuseppe Lippi
{"title":"Global-of-care testing (GOCT): emerging challenges for laboratory medicine network.","authors":"Agostino Ognibene, Giuseppe Lippi","doi":"10.1515/dx-2025-0108","DOIUrl":"https://doi.org/10.1515/dx-2025-0108","url":null,"abstract":"<p><p>The coronavirus disease 2019 (COVID-19) pandemic has placed laboratory medicine at the forefront of public health and clinical care. Larger use of social media and official communication platforms raised public awareness of laboratory science, driving demand for rapid, accurate diagnostic information and shifting expectations around access and interpretation of testing. Laboratory medicine, rooted in accuracy, precision, reproducibility and clinical relevance, has advanced from basic diagnostics to sophisticated molecular and data-driven platforms. Yet, literature and policy on coordinated international laboratory networks, especially for surveillance and emergency response, remain limited. This opinion paper introduces the concept of \"global-of-care testing\", encompassing globally connected diagnostic infrastructures with regional adaptability, robust governance, and sustained investment in technology and workforce. Laboratory network design must account for geography and population density in allocating facilities. Integrated systems require automation capable of interfacing across multiple platforms (preanalytical processing, clinical chemistry, immunochemistry, hematology, coagulation, urinalysis and even molecular diagnostics and mass spectrometry) to optimize workflows, support real-time decision-making, facilitate remote collaboration and maintain rigorous quality assurance. A decentralized yet interconnected model allows peripheral laboratories to actively participate in clinical decision-making through shared protocols, telemedicine and integrated data, ultimately reducing turnaround times, improving responsiveness and enhancing patient-centred care. Embedding Value-Based Laboratory Medicine (VBLM) within this framework ensures that diagnostics are aligned with health outcomes in a multidisciplinary ecosystem organized around patient needs. The future of laboratory medicine will hence depend on evidence-based reforms that integrate technology, reorganize systems and reinforce governance for promoting quality, equitable access and sustainable precision healthcare.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144946509","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosisPub Date : 2025-08-13DOI: 10.1515/dx-2025-0067
Isaac K S Ng, Christine J Ko, Tow Keang Lim
{"title":"Managing cognitive load and enhancing metacognitive learning in postgraduate training and practice.","authors":"Isaac K S Ng, Christine J Ko, Tow Keang Lim","doi":"10.1515/dx-2025-0067","DOIUrl":"https://doi.org/10.1515/dx-2025-0067","url":null,"abstract":"<p><p>The phase of postgraduate medical training and practice is notoriously difficult because junior physicians or medical residents find themselves stuck in a tenuous situation of having to handle newfound heavy clinical work and responsibilities while scaling a steep learning curve on the job. In recent years, increased focus on diagnostic error has led to increasing calls to re-evaluate how clinical reasoning is cultivated in medical training, with emphasis on pedagogical interventions that aim to sharpen clinical judgments while minimising cognitive errors. Against this backdrop, we herein review the concept of \"cognitive load\" in post-graduate training and clinical practice, and discuss its relevance to effective metacognitive learning amidst clinical duties and to optimisation of medical decision-making in real-world settings by reducing cognitive errors in the form of bias and noise. We then outline pedagogical and workplace-based interventions that may target the twin problem of intrinsic and extrinsic cognitive load in clinical learning and work, and specifically advocate metacognitive-based practices that promote iterative cycles of cognitive schema re-calibration and professional development.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144820884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosisPub Date : 2025-08-12DOI: 10.1515/dx-2025-0060
Ana Lorena Hermosilla
{"title":"Incivility in the context of diagnostic safety: a theoretical analysis.","authors":"Ana Lorena Hermosilla","doi":"10.1515/dx-2025-0060","DOIUrl":"https://doi.org/10.1515/dx-2025-0060","url":null,"abstract":"<p><strong>Objectives: </strong>To analyze a theoretical framework that incorporates incivility among healthcare teams in relation to diagnostic safety, and to assess its potential utility for advancing research and practice.</p><p><strong>Methods: </strong>A structured literature review was conducted across PubMed, Web of Science, and CINAHL using search terms such as \"diagnostic safety,\" \"team dynamics,\" \"theoretical framework,\" \"incivility,\" and \"diagnostic framework\". A theoretical framework was selected for analysis. Walker and Avant's six-step theory analysis method was applied to assess the framework's origins, meaning, logical adequacy, usefulness, generalizability, parsimony, and testability.</p><p><strong>Results: </strong>The literature review yielded 144 articles after screening and applying inclusion criteria. Ten articles were reviewed, and the Model of Ward Team Dynamics in Diagnosis by Choi et al. was selected for analysis, as it was the only framework that explicitly addressed unacceptable behaviors (i.e., incivility) in diagnostic team settings. The Choi et al. framework uniquely integrates unacceptable behaviors as a mediating factor in diagnostic team performance, distinguishing it from other diagnostic models. The analysis found the framework to be conceptually well-grounded, with several constructs operationally defined and empirically measurable. However, gaps were identified in parsimony and the clarity of relational statements, indicating opportunities for refinement and empirical testing.</p><p><strong>Conclusions: </strong>The framework offers a valuable theoretical foundation for studying the impact of incivility on diagnostic safety. Its integration of behavioral constructs supports its relevance for empirical research and intervention development aimed at improving team dynamics and diagnostic outcomes.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144816008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosisPub Date : 2025-08-01DOI: 10.1515/dx-2023-0142
Antonio J Dajer, Andrew P J Olson
{"title":"Appendicitis: common and commonly missed - the story of Alice Tapper.","authors":"Antonio J Dajer, Andrew P J Olson","doi":"10.1515/dx-2023-0142","DOIUrl":"10.1515/dx-2023-0142","url":null,"abstract":"<p><strong>Objectives: </strong>The misdiagnosis of appendicitis remains frequent. Better understanding of its clinical evolution over time would decrease the incidence of misdiagnosis.</p><p><strong>Case presentation: </strong>At the Society to Improve Diagnosis in medicine conference in Cleveland Ohio in October 2023, Alice Tapper and her father, CNN journalist Jake Tapper, presented her case of misdiagnosed appendicitis. Thanks to meticulous notes and a detailed timeline, the case vividly demonstrates the protean nature of appendicitis as well as the cognitive pitfalls of clinicians who treat it.</p><p><strong>Conclusion: </strong>McBurney's point tenderness is over-emphasized as the key to the diagnosis of appendicitis.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144759450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosisPub Date : 2025-07-29DOI: 10.1515/dx-2025-0081
Cory Rohlfsen, Andrew S Parsons
{"title":"The poverty of diagnostic essentialism: reimagining diagnosis in the age of artificial intelligence.","authors":"Cory Rohlfsen, Andrew S Parsons","doi":"10.1515/dx-2025-0081","DOIUrl":"https://doi.org/10.1515/dx-2025-0081","url":null,"abstract":"<p><p>The pursuit of medical diagnosis has long been shaped by an epistemic framework that assumes diseases have inherent, discoverable essences. This essentialist approach, deeply rooted in Aristotelian thought, has historically guided diagnostic reasoning and classification for over a century. However, the rise of artificial intelligence (AI) is catalyzing a philosophical and practical shift toward nominalism - a framework in which diagnoses are derived from dynamic, data-driven pattern recognition rather than fixed disease categories. This transition, if it occurs, would be revolutionary, exposing core limitations of essentialist thinking and reframing diagnosis as a process rather than a static conclusion. In doing so, it challenges the conventional concept of an 'endpoint diagnosis' - the idea that diseases can be definitively and completely categorized. Instead, diagnosis emerges as a contingent narrative point within broader clinical trajectories, calling for a reimagining of diagnostic reasoning in the AI era.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144728717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosisPub Date : 2025-07-17DOI: 10.1515/dx-2025-0086
Taro Shimizu
{"title":"Learning from what goes right: a safety-II framework for improving diagnosis at the point of care.","authors":"Taro Shimizu","doi":"10.1515/dx-2025-0086","DOIUrl":"https://doi.org/10.1515/dx-2025-0086","url":null,"abstract":"<p><p>Traditional approaches to improving diagnosis in medicine have focused mainly on identifying and analyzing errors using the Safety-I perspective. Yet, the vast majority of diagnostic encounters are successful, and structured reflection on these positive outcomes remains uncommon in current practice. In this article, I introduce SIDER (Specification, Ishikawa diagram, driver diagram, Engaging the patient and the team, Reflection), a practical protocol designed to embed Safety-II principles into routine diagnostic reflection by encouraging clinicians to learn from what goes right. SIDER guides clinicians through five clear phases: specifying a particularly challenging or instructive case, mapping contributing factors using an Ishikawa diagram, translating those findings into actionable strategies with a driver diagram, engaging the care team and patient to gather collective insights, and concluding with individual reflection to support ongoing calibration and learning. I describe how SIDER enables clinicians to extract broad and transferable lessons from successful but complex diagnostic cases, complementing traditional error analysis and supporting a culture of continuous improvement. By adopting this framework, healthcare teams can expand opportunities for experiential learning, strengthen adaptive expertise, and advance safer diagnostic practice. Future studies are warranted to evaluate the effectiveness of SIDER-guided reflection in enhancing diagnostic performance and improving patient outcomes.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144641983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosisPub Date : 2025-07-08DOI: 10.1515/dx-2025-0039
James Bowen, Brenda Demeritt, Anna J Ipsaro, Amanda Combs, DeAnna Hawkins, Michaela Hoiles, Angela M Statile, Michelle Parker
{"title":"Leveraging diagnostic timeouts to foster interprofessional communication.","authors":"James Bowen, Brenda Demeritt, Anna J Ipsaro, Amanda Combs, DeAnna Hawkins, Michaela Hoiles, Angela M Statile, Michelle Parker","doi":"10.1515/dx-2025-0039","DOIUrl":"https://doi.org/10.1515/dx-2025-0039","url":null,"abstract":"<p><strong>Objectives: </strong>Diagnostic errors are a significant source of patient harm, often arising from cognitive biases and communication breakdowns. Diagnostic timeouts (DTOs) offer a structured opportunity to reassess diagnoses, but their implementation is inconsistent. This study aimed to evaluate a nurse-driven DTO framework designed to enhance interprofessional communication and diagnostic accuracy in a pediatric hospital setting.</p><p><strong>Methods: </strong>A multidisciplinary committee developed and piloted a DTO framework on a 48-bed pediatric acute care unit. Bedside nurses received structured education on DTOs, and standardized prompts were integrated into nursing workflows to identify patients who may benefit from a DTO. Feasibility and acceptability were assessed through voluntary surveys, post-DTO documentation, and qualitative feedback.</p><p><strong>Results: </strong>Among 90 surveyed nurses, 28 % reported that a DTO would have been beneficial for at least one patient in the eight weeks prior to the intervention period. Over six months, 13 nurse-initiated DTOs occurred, with nearly half (46 %) prompting additional workup. Two DTOs led to escalation of care. Qualitative feedback highlighted improved communication, increased psychological safety, and enhanced teamwork.</p><p><strong>Conclusions: </strong>Pilot implementation of a formalized nurse-driven DTO framework was well-received, reinforcing its role in structured diagnostic reassessment. Future efforts will expand DTO implementation and evaluate its impact on psychological safety.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144575045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}