Dataset Information

Artificial Intelligence-Based Differential Diagnosis: Development and Validation of a Probabilistic Model to Address Lack of Large-Scale Clinical Datasets.

ABSTRACT: BACKGROUND:Machine-learning or deep-learning algorithms for clinical diagnosis are inherently dependent on the availability of large-scale clinical datasets. Lack of such datasets and inherent problems such as overfitting often necessitate the development of innovative solutions. Probabilistic modeling closely mimics the rationale behind clinical diagnosis and represents a unique solution. OBJECTIVE:The aim of this study was to develop and validate a probabilistic model for differential diagnosis in different medical domains. METHODS:Numerical values of symptom-disease associations were utilized to mathematically represent medical domain knowledge. These values served as the core engine for the probabilistic model. For the given set of symptoms, the model was utilized to produce a ranked list of differential diagnoses, which was compared to the differential diagnosis constructed by a physician in a consult. Practicing medical specialists were integral in the development and validation of this model. Clinical vignettes (patient case studies) were utilized to compare the accuracy of doctors and the model against the assumed gold standard. The accuracy analysis was carried out over the following metrics: top 3 accuracy, precision, and recall. RESULTS:The model demonstrated a statistically significant improvement (P=.002) in diagnostic accuracy (85%) as compared to the doctors' performance (67%). This advantage was retained across all three categories of clinical vignettes: 100% vs 82% (P<.001) for highly specific disease presentation, 83% vs 65% for moderately specific disease presentation (P=.005), and 72% vs 49% (P<.001) for nonspecific disease presentation. The model performed slightly better than the doctors' average in precision (62% vs 60%, P=.43) but there was no improvement with respect to recall (53% vs 56%, P=.27). However, neither difference was statistically significant. CONCLUSIONS:The present study demonstrates a drastic improvement over previously reported results that can be attributed to the development of a stable probabilistic framework utilizing symptom-disease associations to mathematically represent medical domain knowledge. The current iteration relies on static, manually curated values for calculating the degree of association. Shifting to real-world data-derived values represents the next step in model development.

SUBMITTER: Chishti S

PROVIDER: S-EPMC7218591 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature

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Artificial Intelligence-Based Differential Diagnosis: Development and Validation of a Probabilistic Model to Address Lack of Large-Scale Clinical Datasets.

Chishti Shahrukh S Jaggi Karan Raj KR Saini Anuj A Agarwal Gaurav G Ranjan Ashish A

Journal of medical Internet research 20200428 4

<h4>Background</h4>Machine-learning or deep-learning algorithms for clinical diagnosis are inherently dependent on the availability of large-scale clinical datasets. Lack of such datasets and inherent problems such as overfitting often necessitate the development of innovative solutions. Probabilistic modeling closely mimics the rationale behind clinical diagnosis and represents a unique solution.<h4>Objective</h4>The aim of this study was to develop and validate a probabilistic model for differ ...[more]

PMID: 32343256

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Project description:Background Although artificial intelligence (AI) shows promise across many aspects of radiology, the use of AI to create differential diagnoses for rare and common diseases at brain MRI has not been demonstrated. Purpose To evaluate an AI system for generation of differential diagnoses at brain MRI compared with radiologists. Materials and Methods This retrospective study tested performance of an AI system for probabilistic diagnosis in patients with 19 common and rare diagnoses at brain MRI acquired between January 2008 and January 2018. The AI system combines data-driven and domain-expertise methodologies, including deep learning and Bayesian networks. First, lesions were detected by using deep learning. Then, 18 quantitative imaging features were extracted by using atlas-based coregistration and segmentation. Third, these image features were combined with five clinical features by using Bayesian inference to develop probability-ranked differential diagnoses. Quantitative feature extraction algorithms and conditional probabilities were fine-tuned on a training set of 86 patients (mean age, 49 years ± 16 [standard deviation]; 53 women). Accuracy was compared with radiology residents, general radiologists, neuroradiology fellows, and academic neuroradiologists by using accuracy of top one, top two, and top three differential diagnoses in 92 independent test set patients (mean age, 47 years ± 18; 52 women). Results For accuracy of top three differential diagnoses, the AI system (91% correct) performed similarly to academic neuroradiologists (86% correct; P = .20), and better than radiology residents (56%; P < .001), general radiologists (57%; P < .001), and neuroradiology fellows (77%; P = .003). The performance of the AI system was not affected by disease prevalence (93% accuracy for common vs 85% for rare diseases; P = .26). Radiologists were more accurate at diagnosing common versus rare diagnoses (78% vs 47% across all radiologists; P < .001). Conclusion An artificial intelligence system for brain MRI approached overall top one, top two, and top three differential diagnoses accuracy of neuroradiologists and exceeded that of less-specialized radiologists. © RSNA, 2020 Online supplemental material is available for this article. See also the editorial by Zaharchuk in this issue.

Project description:BackgroundArtificial intelligence (AI) has been extensively used in a range of medical fields to promote therapeutic development. The development of diverse AI techniques has also contributed to early detections, disease diagnoses, and referral management. However, concerns about the value of advanced AI in disease diagnosis have been raised by health care professionals, medical service providers, and health policy decision makers.ObjectiveThis review aimed to systematically examine the literature, in particular, focusing on the performance comparison between advanced AI and human clinicians to provide an up-to-date summary regarding the extent of the application of AI to disease diagnoses. By doing so, this review discussed the relationship between the current advanced AI development and clinicians with respect to disease diagnosis and thus therapeutic development in the long run.MethodsWe systematically searched articles published between January 2000 and March 2019 following the Preferred Reporting Items for Systematic reviews and Meta-Analysis in the following databases: Scopus, PubMed, CINAHL, Web of Science, and the Cochrane Library. According to the preset inclusion and exclusion criteria, only articles comparing the medical performance between advanced AI and human experts were considered.ResultsA total of 9 articles were identified. A convolutional neural network was the commonly applied advanced AI technology. Owing to the variation in medical fields, there is a distinction between individual studies in terms of classification, labeling, training process, dataset size, and algorithm validation of AI. Performance indices reported in articles included diagnostic accuracy, weighted errors, false-positive rate, sensitivity, specificity, and the area under the receiver operating characteristic curve. The results showed that the performance of AI was at par with that of clinicians and exceeded that of clinicians with less experience.ConclusionsCurrent AI development has a diagnostic performance that is comparable with medical experts, especially in image recognition-related fields. Further studies can be extended to other types of medical imaging such as magnetic resonance imaging and other medical practices unrelated to images. With the continued development of AI-assisted technologies, the clinical implications underpinned by clinicians' experience and guided by patient-centered health care principle should be constantly considered in future AI-related and other technology-based medical research.

Dataset Information

Artificial Intelligence-Based Differential Diagnosis: Development and Validation of a Probabilistic Model to Address Lack of Large-Scale Clinical Datasets.

Publications

Artificial Intelligence-Based Differential Diagnosis: Development and Validation of a Probabilistic Model to Address Lack of Large-Scale Clinical Datasets.

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