Application of Machine Learning in Healthcare and Medicine: A Review

This extensive literature review investigates the integration of Machine Learning (ML) into the healthcare sector, uncovering its potential, challenges, and strategic resolutions. The main objective is to comprehensively explore how ML is incorporated into medical practices, demonstrate its impact, and provide relevant solutions. The research motivation stems from the necessity to comprehend the convergence of ML and healthcare services, given its intricate implications. Through meticulous analysis of existing research, this method elucidates the broad spectrum of ML applications in disease prediction and personalized treatment. The research's precision lies in dissecting methodologies, scrutinizing studies, and extrapolating critical insights. The article establishes that ML has succeeded in various aspects of medical care. In certain studies, ML algorithms, especially Convolutional Neural Networks (CNNs), have achieved high accuracy in diagnosing diseases such as lung cancer, colorectal cancer, brain tumors, and breast tumors. Apart from CNNs, other algorithms like SVM, RF, k-NN, and DT have also proven effective. Evaluations based on accuracy and F1-score indicate satisfactory results, with some studies exceeding 90% accuracy. This principal finding underscores the impressive accuracy of ML algorithms in diagnosing diverse medical conditions. This outcome signifies the transformative potential of ML in reshaping conventional diagnostic techniques. Discussions revolve around challenges like data quality, security risks, potential misinterpretations, and obstacles in integrating ML into clinical realms. To mitigate these, multifaceted solutions are proposed, encompassing standardized data formats, robust encryption, model interpretation, clinician training, and stakeholder collaboration

Performance Evaluation of Ensembles Algorithms in Prediction of Breast Cancer

Breast Cancer is the most dominant cause of mortality in women. Early diagnosis and treatment of the disease can stop the spreading of cancer in the breast. Due to this nature of the problem, accurate prediction is the most important measure of the predictive model. This paper proposes the comparison of ensemble learning techniques in predicting breast cancer. Ensemble learning is widely used for performance improvement of the predictive task. The ensembles algorithms used in this research study are AdaBoost, Random Forest, and XGBoost with data from Wisconsin hospitals. The result indicates that the random forest is the best predictive model for this dataset. The model has the following performance measure, accuracy 97%, sensitivity 96%, and specificity 96%. The experiment is executed using scikit-learn machine learning library. With this high level of accuracy offered by the model, the model can help the doctor to identify whether the patient has malignant or benign tumor cancer cells with high precision

Virtual patient-specific treatment verification using machine learning methods to assist the dose deliverability evaluation of radiotherapy prostate plans

Machine Learning (ML) methods represent a potential tool to support and optimize virtual patient-specific plan verifications within radiotherapy workflows. However, previously reported applications did not consider the actual physical implications in the predictor’s quality and modelperformance and did not report the implementation pertinence nor their limitations. Therefore, the main goal of this thesis was to predict dose deliverability using different ML models and input predictor features, analysing the physical aspects involved in the predictions to propose areliable decision-support tool for virtual patient-specific plan verification protocols. Among the principal predictors explored in this thesis, numerical and high-dimensional features based on modulation complexity, treatment-unit parameters, and dosimetric plan parameters were all implemented by designing random forest (RF), extreme gradient boosting (XG-Boost), neural networks (NN), and convolutional neural networks (CNN) models to predict gamma passing rates (GPR) for prostate treatments. Accordingly, this research highlights three principal findings. (1) The dataset composition's heterogeneity directly impacts the quality of the predictor features and, subsequently, the model performance. (2) The models based on automatic extracted features methods (CNN models) of multi-leaf-collimator modulation maps (MM) presented a more independent and transferable prediction performance. Furthermore, (3) ML algorithms incorporated in radiotherapy workflows for virtual plan verification are required to retrieve treatment plan parameters associated with the prediction to support themodel's reliability and stability. Finally, this thesis presents how the most relevant automatically extracted features from the activation maps were considered to suggest an alternative decision support tool to comprehensively evaluate the causes of the predicted dose deliverability

Integrated Machine Learning and Bioinformatics Approaches for Prediction of Cancer-Driving Gene Mutations

Cancer arises from the accumulation of somatic mutations and genetic alterations in cell division checkpoints and apoptosis, this often leads to abnormal tumor proliferation. Proper classification of cancer-linked driver mutations will considerably help our understanding of the molecular dynamics of cancer. In this study, we compared several cancer-specific predictive models for prediction of driver mutations in cancer-linked genes that were validated on canonical data sets of functionally validated mutations and applied to a raw cancer genomics data. By analyzing pathogenicity prediction and conservation scores, we have shown that evolutionary conservation scores play a pivotal role in the classification of cancer drivers and were the most informative features in the driver mutation classification. Through extensive comparative analysis with structure-functional experiments and multicenter mutational calling data from PanCancer Atlas studies, we have demonstrated the robustness of our models and addressed the validity of computational predictions. We evaluated the performance of our models using the standard diagnostic metrics such as sensitivity, specificity, area under the curve and F-measure. To address the interpretability of cancer-specific classification models and obtain novel insights about molecular signatures of driver mutations, we have complemented machine learning predictions with structure-functional analysis of cancer driver mutations in several key tumor suppressor genes and oncogenes. Through the experiments carried out in this study, we found that evolutionary-based features have the strongest signal in the machine learning classification VII of driver mutations and provide orthogonal information to the ensembled-based scores that are prominent in the ranking of feature importance

Introduction to machine and deep learning for medical physicists

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/155469/1/mp14140_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/155469/2/mp14140.pd

Towards Secure and Intelligent Diagnosis: Deep Learning and Blockchain Technology for Computer-Aided Diagnosis Systems

Cancer is the second leading cause of death across the world after cardiovascular disease. The survival rate of patients with cancerous tissue can significantly decrease due to late-stage diagnosis. Nowadays, advancements of whole slide imaging scanners have resulted in a dramatic increase of patient data in the domain of digital pathology. Large-scale histopathology images need to be analyzed promptly for early cancer detection which is critical for improving patient's survival rate and treatment planning. Advances of medical image processing and deep learning methods have facilitated the extraction and analysis of high-level features from histopathological data that could assist in life-critical diagnosis and reduce the considerable healthcare cost associated with cancer. In clinical trials, due to the complexity and large variance of collected image data, developing computer-aided diagnosis systems to support quantitative medical image analysis is an area of active research. The first goal of this research is to automate the classification and segmentation process of cancerous regions in histopathology images of different cancer tissues by developing models using deep learning-based architectures. In this research, a framework with different modules is proposed, including (1) data pre-processing, (2) data augmentation, (3) feature extraction, and (4) deep learning architectures. Four validation studies were designed to conduct this research. (1) differentiating benign and malignant lesions in breast cancer (2) differentiating between immature leukemic blasts and normal cells in leukemia cancer (3) differentiating benign and malignant regions in lung cancer, and (4) differentiating benign and malignant regions in colorectal cancer. Training machine learning models, disease diagnosis, and treatment often requires collecting patients' medical data. Privacy and trusted authenticity concerns make data owners reluctant to share their personal and medical data. Motivated by the advantages of Blockchain technology in healthcare data sharing frameworks, the focus of the second part of this research is to integrate Blockchain technology in computer-aided diagnosis systems to address the problems of managing access control, authentication, provenance, and confidentiality of sensitive medical data. To do so, a hierarchical identity and attribute-based access control mechanism using smart contract and Ethereum Blockchain is proposed to securely process healthcare data without revealing sensitive information to an unauthorized party leveraging the trustworthiness of transactions in a collaborative healthcare environment. The proposed access control mechanism provides a solution to the challenges associated with centralized access control systems and ensures data transparency and traceability for secure data sharing, and data ownership

Diagnosis and Prognosis of Occupational disorders based on Machine Learn- ing Techniques applied to Occupational Profiles

Work-related disorders have a global influence on people’s well-being and quality of life and are a financial burden for organizations because they reduce productivity, increase absenteeism, and promote early retirement. Work-related musculoskeletal disorders, in particular, represent a significant fraction of the total in all occupational contexts. In automotive and industrial settings where workers are exposed to work-related muscu- loskeletal disorders risk factors, occupational physicians are responsible for monitoring workers’ health protection profiles. Occupational technicians report in the Occupational Health Protection Profiles database to understand which exposure to occupational work- related musculoskeletal disorder risk factors should be ensured for a given worker. Occu- pational Health Protection Profiles databases describe the occupational physician states, and which exposure the physicians considers necessary to ensure the worker’s health protection in terms of their functional work ability. The application of Human-Centered explainable artificial intelligence can support the decision making to go from worker’s Functional Work Ability to explanations by integrating explainability into medical (re- striction) and supporting in two decision contexts: prognosis and diagnosis of individual, work related and organizational risk condition. Although previous machine learning ap- proaches provided good predictions, their application in an actual occupational setting is limited because their predictions are difficult to interpret and hence, not actionable. In this thesis, injured body parts in which the ability changed in a worker’s functional work ability status are targeted. On the one hand, artificial intelligence algorithms can help technical teams, occupational physicians, and ergonomists determine a worker’s workplace risk via the diagnosis and prognosis of body part(s) injuries; on the other hand, these approaches can help prevent work-related musculoskeletal disorders by identifying which processes are lacking in working condition improvement and which workplaces have a better match between the remaining functional work abilities. A sample of 2025 for the prognosis part (from the years of 2019 to 2020) and 7857 for the prognosis part of Occupational Health Protection Profiles based on Functional Work Ability textual re- ports in the Portuguese language in automotive industry factory. Machine learning-based Natural Language Processing methods were implemented to extract standardized infor- mation. The prognosis and diagnosis of Occupational Health Protection Profiles factors were developed in reliable Human-Centered explainable artificial intelligence system to promote a trustworthy Human-Centered explainable artificial intelligence system (enti- tled Industrial microErgo application). The most suitable regression models to predict the next medical appointment for the injured body regions were the models based on CatBoost regression, with R square and an RMSLE of 0.84 and 1.23 weeks, respectively. In parallel, CatBoost’s best regression model for most body parts is the prediction of the next injured body parts based on these two errors. This information can help tech- nical industrial teams understand potential risk factors for Occupational Health Protec- tion Profiles and identify warning signs of the early stages of musculoskeletal disorders.Os transtornos relacionados ao trabalho têm influência global no bem-estar e na quali- dade de vida das pessoas e são um ônus financeiro para as organizações, pois reduzem a produtividade, aumentam o absenteísmo e promovem a aposentadoria precoce. Os distúr- bios osteomusculares relacionados ao trabalho, em particular, representam uma fração significativa do total em todos os contextos ocupacionais. Em ambientes automotivos e industriais onde os trabalhadores estão expostos a fatores de risco de distúrbios osteomus- culares relacionados ao trabalho, os médicos do trabalho são responsáveis por monitorar os perfis de proteção à saúde dos trabalhadores. Os técnicos do trabalho reportam-se à base de dados dos Perfis de Proteção da Saúde Ocupacional para compreender quais os fatores de risco de exposição a perturbações músculo-esqueléticas relacionadas com o tra- balho que devem ser assegurados para um determinado trabalhador. As bases de dados de Perfis de Proteção à Saúde Ocupacional descrevem os estados do médico do trabalho e quais exposições os médicos consideram necessária para garantir a proteção da saúde do trabalhador em termos de sua capacidade funcional para o trabalho. A aplicação da inteligência artificial explicável centrada no ser humano pode apoiar a tomada de decisão para ir da capacidade funcional de trabalho do trabalhador às explicações, integrando a explicabilidade à médica (restrição) e apoiando em dois contextos de decisão: prognóstico e diagnóstico da condição de risco individual, relacionado ao trabalho e organizacional . Embora as abordagens anteriores de aprendizado de máquina tenham fornecido boas pre- visões, sua aplicação em um ambiente ocupacional real é limitada porque suas previsões são difíceis de interpretar e portanto, não acionável. Nesta tese, as partes do corpo lesiona- das nas quais a habilidade mudou no estado de capacidade funcional para o trabalho do trabalhador são visadas. Por um lado, os algoritmos de inteligência artificial podem aju- dar as equipes técnicas, médicos do trabalho e ergonomistas a determinar o risco no local de trabalho de um trabalhador por meio do diagnóstico e prognóstico de lesões em partes do corpo; por outro lado, essas abordagens podem ajudar a prevenir distúrbios muscu- loesqueléticos relacionados ao trabalho, identificando quais processos estão faltando na melhoria das condições de trabalho e quais locais de trabalho têm uma melhor correspon- dência entre as habilidades funcionais restantes do trabalho. Para esta tese, foi utilizada uma base de dados com Perfis de Proteção à Saúde Ocupacional, que se baseiam em relató- rios textuais de Aptidão para o Trabalho em língua portuguesa, de uma fábrica da indús- tria automóvel (Auto Europa). Uma amostra de 2025 ficheiros foi utilizada para a parte de prognóstico (de 2019 a 2020) e uma amostra de 7857 ficheiros foi utilizada para a parte de diagnóstico. . Aprendizado de máquina- métodos baseados em Processamento de Lingua- gem Natural foram implementados para extrair informações padronizadas. O prognóstico e diagnóstico dos fatores de Perfis de Proteção à Saúde Ocupacional foram desenvolvidos em um sistema confiável de inteligência artificial explicável centrado no ser humano (inti- tulado Industrial microErgo application). Os modelos de regressão mais adequados para prever a próxima consulta médica para as regiões do corpo lesionadas foram os modelos baseados na regressão CatBoost, com R quadrado e RMSLE de 0,84 e 1,23 semanas, res- pectivamente. Em paralelo, a previsão das próximas partes do corpo lesionadas com base nesses dois erros relatados pelo CatBoost como o melhor modelo de regressão para a mai- oria das partes do corpo. Essas informações podem ajudar as equipes técnicas industriais a entender os possíveis fatores de risco para os Perfis de Proteção à Saúde Ocupacio- nal e identificar sinais de alerta dos estágios iniciais de distúrbios musculoesqueléticos

Advanced machine learning methods for oncological image analysis

Cancer is a major public health problem, accounting for an estimated 10 million deaths worldwide in 2020 alone. Rapid advances in the field of image acquisition and hardware development over the past three decades have resulted in the development of modern medical imaging modalities that can capture high-resolution anatomical, physiological, functional, and metabolic quantitative information from cancerous organs. Therefore, the applications of medical imaging have become increasingly crucial in the clinical routines of oncology, providing screening, diagnosis, treatment monitoring, and non/minimally- invasive evaluation of disease prognosis. The essential need for medical images, however, has resulted in the acquisition of a tremendous number of imaging scans. Considering the growing role of medical imaging data on one side and the challenges of manually examining such an abundance of data on the other side, the development of computerized tools to automatically or semi-automatically examine the image data has attracted considerable interest. Hence, a variety of machine learning tools have been developed for oncological image analysis, aiming to assist clinicians with repetitive tasks in their workflow. This thesis aims to contribute to the field of oncological image analysis by proposing new ways of quantifying tumor characteristics from medical image data. Specifically, this thesis consists of six studies, the first two of which focus on introducing novel methods for tumor segmentation. The last four studies aim to develop quantitative imaging biomarkers for cancer diagnosis and prognosis. The main objective of Study I is to develop a deep learning pipeline capable of capturing the appearance of lung pathologies, including lung tumors, and integrating this pipeline into the segmentation networks to leverage the segmentation accuracy. The proposed pipeline was tested on several comprehensive datasets, and the numerical quantifications show the superiority of the proposed prior-aware DL framework compared to the state of the art. Study II aims to address a crucial challenge faced by supervised segmentation models: dependency on the large-scale labeled dataset. In this study, an unsupervised segmentation approach is proposed based on the concept of image inpainting to segment lung and head- neck tumors in images from single and multiple modalities. The proposed autoinpainting pipeline shows great potential in synthesizing high-quality tumor-free images and outperforms a family of well-established unsupervised models in terms of segmentation accuracy. Studies III and IV aim to automatically discriminate the benign from the malignant pulmonary nodules by analyzing the low-dose computed tomography (LDCT) scans. In Study III, a dual-pathway deep classification framework is proposed to simultaneously take into account the local intra-nodule heterogeneities and the global contextual information. Study IV seeks to compare the discriminative power of a series of carefully selected conventional radiomics methods, end-to-end Deep Learning (DL) models, and deep features-based radiomics analysis on the same dataset. The numerical analyses show the potential of fusing the learned deep features into radiomic features for boosting the classification power. Study V focuses on the early assessment of lung tumor response to the applied treatments by proposing a novel feature set that can be interpreted physiologically. This feature set was employed to quantify the changes in the tumor characteristics from longitudinal PET-CT scans in order to predict the overall survival status of the patients two years after the last session of treatments. The discriminative power of the introduced imaging biomarkers was compared against the conventional radiomics, and the quantitative evaluations verified the superiority of the proposed feature set. Whereas Study V focuses on a binary survival prediction task, Study VI addresses the prediction of survival rate in patients diagnosed with lung and head-neck cancer by investigating the potential of spherical convolutional neural networks and comparing their performance against other types of features, including radiomics. While comparable results were achieved in intra- dataset analyses, the proposed spherical-based features show more predictive power in inter-dataset analyses. In summary, the six studies incorporate different imaging modalities and a wide range of image processing and machine-learning techniques in the methods developed for the quantitative assessment of tumor characteristics and contribute to the essential procedures of cancer diagnosis and prognosis