A comprehensive interpretable machine learning framework for Mild Cognitive Impairment and Alzheimer's disease diagnosis

An interpretable machine learning (ML) framework is introduced to enhance the diagnosis of Mild Cognitive Impairment (MCI) and Alzheimer's disease (AD) by ensuring robustness of the ML models' interpretations. The dataset used comprises volumetric measurements from brain MRI and genetic data from healthy individuals and patients with MCI/AD, obtained through the Alzheimer's Disease Neuroimaging Initiative. The existing class imbalance is addressed by an ensemble learning approach, while various attribution-based and counterfactual-based interpretability methods are leveraged towards producing diverse explanations related to the pathophysiology of MCI/AD. A unification method combining SHAP with counterfactual explanations assesses the interpretability techniques' robustness. The best performing model yielded 87.5% balanced accuracy and 90.8% F1-score. The attribution-based interpretability methods highlighted significant volumetric and genetic features related to MCI/AD risk. The unification method provided useful insights regarding those features' necessity and sufficiency, further showcasing their significance in MCI/AD diagnosis.

Sustaining model performance for covid-19 detection from dynamic audio data: Development and evaluation of a comprehensive drift-adaptive framework

Background: The COVID-19 pandemic has highlighted the need for robust diagnostic tools capable of detecting the disease from diverse and evolving data sources. Machine learning models, especially convolutional neural networks (CNNs), have shown promise. However, the dynamic nature of real-world data can lead to model drift, where performance degrades over time as the underlying data distribution changes. Addressing this challenge is crucial to maintaining accuracy and reliability in diagnostic applications. Objective: This study aims to develop a framework that monitors model drift and employs adaptation mechanisms to mitigate performance fluctuations in COVID-19 detection models trained on dynamic audio data. Methods: Two crowd-sourced COVID-19 audio datasets, COVID-19 Sounds and COSWARA, were used. Each was divided into development and post-development periods. A baseline CNN model was trained and evaluated using cough recordings from the development period. Maximum mean discrepancy (MMD) was used to detect changes in data distributions and model performance between periods. Upon detecting drift, retraining was triggered to update the baseline model. Two adaptation approaches were compared: unsupervised domain adaptation (UDA) and active learning (AL). Results: UDA improved balanced accuracy by up to 22% and 24% for the COVID-19 Sounds and COSWARA datasets, respectively. AL yielded even greater improvements, with increases of up to 30% and 60%, respectively. Conclusions: The proposed framework addresses model drift in COVID-19 detection, enabling continuous adaptation to evolving data. This approach ensures sustained model performance, contributing to robust diagnostic tools for COVID-19 and potentially other infectious diseases.

Stratification of carotid atheromatous plaque using interpretable deep learning methods on B-mode ultrasound images

Carotid atherosclerosis is the major cause of ischemic stroke resulting in significant rates of mortality and disability annually. Early diagnosis of such cases is of great importance, since it enables clinicians to apply a more effective treatment strategy. This paper introduces an interpretable classification approach of carotid ultrasound images for the risk assessment and stratification of patients with carotid atheromatous plaque. To address the highly imbalanced distribution of patients between the symptomatic and asymptomatic classes (16 vs 58, respectively), an ensemble learning scheme based on a sub-sampling approach was applied along with a two-phase, cost-sensitive strategy of learning, that uses the original and a resampled data set. Convolutional Neural Networks (CNNs) were utilized for building the primary models of the ensemble. A six-layer deep CNN was used to automatically extract features from the images, followed by a classification stage of two fully connected layers. The obtained results (Area Under the ROC Curve (AUC): 73%, sensitivity: 75%, specificity: 70%) indicate that the proposed approach achieved acceptable discrimination performance. Finally, interpretability methods were applied on the model's predictions in order to reveal insights on the model's decision process as well as to enable the identification of novel image biomarkers for the stratification of patients with carotid atheromatous plaque.Clinical Relevance-The integration of interpretability methods with deep learning strategies can facilitate the identification of novel ultrasound image biomarkers for the stratification of patients with carotid atheromatous plaque.

Interpretability methods of machine learning algorithms with applications in breast cancer diagnosis

Early detection of breast cancer is a powerful tool towards decreasing its socioeconomic burden. Although, artificial intelligence (AI) methods have shown remarkable results towards this goal, their "black box" nature hinders their wide adoption in clinical practice. To address the need for AI guided breast cancer diagnosis, interpretability methods can be utilized. In this study, we used AI methods, i.e., Random Forests (RF), Neural Networks (NN) and Ensembles of Neural Networks (ENN), towards this goal and explained and optimized their performance through interpretability techniques, such as the Global Surrogate (GS) method, the Individual Conditional Expectation (ICE) plots and the Shapley values (SV). The Wisconsin Diagnostic Breast Cancer (WDBC) dataset of the open UCI repository was used for the training and evaluation of the AI algorithms. The best performance for breast cancer diagnosis was achieved by the proposed ENN (96.6% accuracy and 0.96 area under the ROC curve), and its predictions were explained by ICE plots, proving that its decisions were compliant with current medical knowledge and can be further utilized to gain new insights in the pathophysiological mechanisms of breast cancer. Feature selection based on features' importance according to the GS model improved the performance of the RF (leading the accuracy from 96.49% to 97.18% and the area under the ROC curve from 0.96 to 0.97) and feature selection based on features' importance according to SV improved the performance of the NN (leading the accuracy from 94.6% to 95.53% and the area under the ROC curve from 0.94 to 0.95). Compared to other approaches on the same dataset, our proposed models demonstrated state of the art performance while being interpretable.

An explainable XGBoost-based approach towards assessing the risk of cardiovascular disease in patients with Type 2 Diabetes Mellitus

Cardiovascular Disease (CVD) is an important cause of disability and death among individuals with Diabetes Mellitus (DM). International clinical guidelines for the management of Type 2 DM (T2DM) are founded on primary and secondary prevention and favor the evaluation of CVD related risk factors towards appropriate treatment initiation. CVD risk prediction models can provide valuable tools for optimizing the frequency of medical visits and performing timely preventive and therapeutic interventions against CVD events. The integration of explainability modalities in these models can enhance human understanding on the reasoning process, maximize transparency and embellish trust towards the models' adoption in clinical practice. The aim of the present study is to develop and evaluate an explainable personalized risk prediction model for the fatal or non-fatal CVD incidence in T2DM individuals. An explainable approach based on the eXtreme Gradient Boosting (XGBoost) and the Tree SHAP (SHapley Additive exPlanations) method is deployed for the calculation of the 5-year CVD risk and the generation of individual explanations on the model's decisions. Data from the 5-year follow up of 560 patients with T2DM are used for development and evaluation purposes. The obtained results (AUC = 71.13%) indicate the potential of the proposed approach to handle the unbalanced nature of the used dataset, while providing clinically meaningful insights about the ensemble model's decision process.