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Comprehensive resource encompassing recent developments, current use cases, and future opportunities for AI in disease detection
AI in Disease Detection discusses the integration of artificial intelligence to revolutionize disease detection approaches, with case studies of AI in disease detection as well as insight into the opportunities and challenges of AI in healthcare as a whole. The book explores a wide range of individual AI components such as computer vision, natural language processing, and machine learning as well as the development and implementation of AI systems for efficient practices in data collection, model training, and clinical validation.
This book assists readers in assessing big data in healthcare and determining the drawbacks and possibilities associated with the implementation of AI in disease detection; categorizing major applications of AI in disease detection such as cardiovascular disease detection, cancer diagnosis, neurodegenerative disease detection, and infectious disease control, as well as implementing distinct AI methods and algorithms with medical data including patient records and medical images, and understanding the ethical and social consequences of AI in disease detection such as confidentiality, bias, and accessibility to healthcare.
Sample topics explored in AI in Disease Detection include:
Delivering excellent coverage of the subject, AI in Disease Detection is an essential up-to-date reference for students, healthcare professionals, academics, and practitioners seeking to understand the possible applications of AI in disease detection and stay on the cutting edge of the most recent breakthroughs in the field.
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Veröffentlichungsjahr: 2024
Cover
Table of Contents
Series Page
Title Page
Copyright Page
About the Editors
List of Contributors
Preface
Acknowledgments
1 Introduction to AI in Disease Detection — An Overview of the Use of AI in Detecting Diseases, Including the Benefits and Limitations of the Technology
Introduction
Objectives
Literature Review
Benefits of AI in Disease Detection
Limitations of AI in Disease Detection
AI Techniques in Disease Detection
Applications of AI in Disease Detection
Methodology
Results and Analysis
Case Study: AI in Disease Detection
Conclusion
Future Scope
References
2 Explanation of Machine Learning Algorithms Used in Disease Detection, Such as Decision Trees and Neural Networks
Introduction
Objectives
Advantages of Machine Learning Algorithms for Disease Detection
Literature Review
Methodology
Results and Analysis
Conclusions and Future Scope
References
3 Natural Language Processing (NLP) in Disease Detection — A Discussion of How NLP Techniques Can Be Used to Analyze and Classify Medical Text Data for Disease Diagnosis
Introduction
Objectives
Advantages and Limitations of Natural Language Processing in Disease Detection
Literature Review
Methodology
Results and Analysis
Conclusions and Future Scope
Personalized Pharmaceutical
References
4 Computer Vision for Disease Detection — An Overview of How Computer Vision Techniques Can Be Used to Detect Diseases in Medical Images, Such as X‐Rays and MRIs
Introduction
Objectives
Literature Review
Multimodal Statistics Integration
Innovations in Precise Disease Detection
Advanced Deep Learning Strategies
Real‐Time Diagnostic Systems
Benefits of AI in Disease Detection
Limitations of AI in Disease Detection
Methodology
Results and Analysis
Key Improvements
Key Improvements
Conclusion and Future Scope
References
5 Deep Learning for Disease Detection — A Deep Dive into Deep Learning Techniques Such as Convolutional Neural Networks (CNNs) and Their Use in Disease Detection
Introduction
Objectives
Literature Review
Fundamentals of Deep Learning
CNNs in Medical Imaging
Image Processing for Disease Detection
Methodology
Self‐Supervised Learning
Results and Analysis
Conclusion and Future Scope
References
6 Applications of AI in Cardiovascular Disease Detection — A Review of the Specific Ways in which AI Is Being Used to Detect and Diagnose Cardiovascular Diseases
Introduction
Objectives
Literature Review
Fundamentals of AI in Medical Applications
AI Techniques for Cardiovascular Disease Detection
AI in Cardiovascular Imaging
AI in Risk Prediction and Stratification
Challenges and Limitations of AI in Cardiovascular Disease Detection
Methodology
Results and Analysis
Conclusion and Future Scope
References
7 Applications of AI in Cancer Detection — A Review of the Specific Ways in which AI Is Being Used to Detect and Diagnose Various Types of Cancer
Introduction
Objectives
Literature Review
Methodology
Results and Analysis
Conclusion and Future Scope
References
8 Applications of AI in Neurological Disease Detection — A Review of Specific Ways in Which AI Is Being Used to Detect and Diagnose Neurological Disorders, Such as Alzheimer's and Parkinson's
Introduction
Objectives
Literature Review
Key Applications of AI in Medical Settings
Methodology
Results and Analysis
Conclusion and Future Scope
References
9 AI Integration in Healthcare Systems — A Review of the Problems and Potential Associated with Integrating AI in Healthcare for Disease Detection and Diagnosis
Introduction
Objectives
Literature Review
Methodology
Results and Analysis
Observations
Conclusion
Future Scope
References
10 Clinical Validation of AI Disease Detection Models — An Overview of the Clinical Validation Process for AI Disease Detection Models, and How They Can Be Validated for Accuracy and Effectiveness
Introduction
Objectives
Literature Review
Methodology
Results and Analysis
Conclusion and Future Scope
References
11 Integration of AI in Healthcare Systems — A Discussion of the Challenges and Opportunities of Integrating AI in Healthcare Systems for Disease Detection and Diagnosis
Introduction
Objectives
Literature Review
Advantages of AI Integration in Healthcare Systems
Limitations and Challenges of Integrating AI in Healthcare Systems
Applications of AI in Healthcare for Disease Detection and Diagnosis
Methodology
Results and Analysis
Observations
Conclusion
Future Scope
References
12 The Future of AI in Disease Detection — A Look at Emerging Trends and Future Directions in the Use of AI for Disease Detection and Diagnosis
Introduction
Objectives
Literature Review
Methodology
Result and Analysis
Observations
Conclusion and Future Scope
References
13 Limitations and Challenges of AI in Disease Detection — An Examination of the Limitations and Challenges of AI in Disease Detection, Including the Need for Large Datasets and Potential Biases
Introduction
Objectives
Literature Review
Limitations and Challenges of AI in Disease Detection
Methodology
Result and Analysis
Observations
Conclusion and Future Scope
References
14 AI‐Assisted Diagnosis and Treatment Planning — A Discussion of How AI Can Assist Healthcare Professionals in Making More Accurate Diagnoses and Treatment Plans for Diseases
Introduction
Objectives
Literature Review
Advantages of AI‐Assisted Diagnosis and Treatment Planning
Limitations of AI‐Assisted Diagnosis and Treatment Planning
Applications of AI‐Assisted Diagnosis and Treatment Planning
Methodology
Observations
Results and Analysis
Conclusion and Future Scope
References
15 AI in Disease Surveillance — An Overview of How AI Can Be Used in Disease Surveillance and Outbreak Detection in Real‐World Scenarios
Introduction
Objectives
Literature Review
Advantages of AI in Disease Surveillance
Limitations of AI in Disease Surveillance
Applications of AI in Disease Surveillance
Methodology
Result and Analysis
Observations
Conclusion and Future Scope
References
Index
End User License Agreement
Chapter 1
Table 1.1 Key findings and research implications in focus areas.
Table 1.2 Literature review.
Table 1.3 Review of critically examines AI‐driven healthcare research trend...
Chapter 2
Table 2.1 Literature review of various diseases.
Chapter 3
Table 3.1 Deeper analysis of language model technologies.
Chapter 4
Table 4.1 Deeper analysis of diagnostic technologies.
Chapter 5
Table 5.1 Deeper analysis of technologies.
Chapter 6
Table 6.1 Deeper analysis of different technologies.
Chapter 7
Table 7.1 Deeper analysis of different studies.
Chapter 8
Table 8.1 Deeper analysis of studies.
Table 8.2 Literature review.
Chapter 9
Table 9.1 Deeper analysis of different studies.
Table 9.2 Application and challenges.
Chapter 10
Table 10.1 Deeper analysis of different studies.
Table 10.2 Application and challenges.
Chapter 11
Table 11.1 Deeper analysis of different studies.
Table 11.2 Advantages and disadvantages of integrating AI into healthcare.
Chapter 12
Table 12.1 Deeper research analysis.
Table 12.2 Application and challenges.
Chapter 13
Table 13.1 Deeper analysis of different studies.
Table 13.2 Fundamental application and limitations and challenges of AI in d...
Chapter 14
Table 14.1 Deeper analysis of different studies.
Table 14.2 Applications and challenges.
Chapter 15
Table 15.1 Deeper analysis of different studies.
Table 15.2 Application and challenges.
Chapter 1
Figure 1.1 Architectural framework.
Figure 1.2 Flow diagram of architectural framework.
Figure 1.3 Merits and limitation of AI in disease detection.
Chapter 2
Figure 2.1 Architectural framework.
Figure 2.2 Usage of ML in disease detection.
Chapter 3
Figure 3.1 Architectural framework.
Figure 3.2 Trends in NLP techniques for disease detection.
Chapter 4
Figure 4.1 Architectural framework.
Figure 4.2 Trends in CV techniques for detection of diseases.
Chapter 5
Figure 5.1 Architectural framework.
Figure 5.2 Deep learning techniques for disease detection.
Chapter 6
Figure 6.1 Architectural framework.
Figure 6.2 Applications of AI in cardiovascular disease detection.
Chapter 7
Figure 7.1 Architectural framework.
Figure 7.2 Applications of AI in cancer detection.
Chapter 8
Figure 8.1 Architectural framework.
Figure 8.2 Application of AI in neurological disease detection.
Chapter 9
Figure 9.1 Architectural framework.
Figure 9.2 Comprehensive analysis of AI in healthcare.
Chapter 10
Figure 10.1 Architectural framework.
Figure 10.2 Clinical validation of AI in disease detection.
Chapter 11
Figure 11.1 Architectural framework.
Figure 11.2 Integration of AI in healthcare: challenges and opportunities.
Chapter 12
Figure 12.1 Architectural framework.
Figure 12.2 Future of AI in disease detection.
Chapter 13
Figure 13.1 Architectural framework.
Figure 13.2 Limitation and challenges of AI in disease detection.
Chapter 14
Figure 14.1 Architectural framework.
Figure 14.2 AI‐assisted diagnosis and treatment planning.
Chapter 15
Figure 15.1 Architectural framework.
Figure 15.2 AI in disease surveillance.
Figure 15.3 Impacts and trends of AI in disease surveillance.
Cover Page
Series Page
Title Page
Copyright Page
About the Editors
List of Contributors
Preface
Acknowledgments
Table of Contents
Begin Reading
Index
WILEY END USER LICENSE AGREEMENT
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IEEE Press
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Diomidis Spinellis
Edited by
Rajesh Singh
Uttaranchal Institute of Technology
India
Anita Gehlot
Uttaranchal Institute of Technology
India
Navjot Rathour
Chandigarh University
India
Shaik Vaseem Akram
S R University
Telangana, India
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Dr. Rajesh Singh, Professor, Electronics & Communication Engineering and Director, Research & Innovation, Uttaranchal University, India. Dr. Singh was featured among the top ten inventors during 2010–2020 by Clarivate Analytics in “India’s Innovation Synopsis” in March 2021.
Dr. Anita Gehlot, Professor, Electronics & Communication Engineering and Head‐Research and Innovation, Uttaranchal University, India.
Dr. Navjot Rathour, Associate Professor, Electronics & Communication Engineering, Chandigarh University, Mohali, India.
Dr. Shaik Vaseem Akram, Assistant Professor, Electronics & Communication Engineering, S R University, Telangana, India.
Hitesh BhattNational Thermal Power CorporationUttar Pradesh, India
Anchit BijalwanSchool of Computing and Innovative Technologies, British UniversityVietnam, Hanoi, Vietnam
Shival DubeyInstitute of Design, Optimization and Robotics (iDRO), School of Mechanical EngineeringUniversity of Leeds, Woodhouse Leeds, LS2 9JT, UK
Mohammed Ismail IqbalPetroleum Engineering DepartmentUniversity of Technology and Applied Sciences, Nizwa, Oman
Bobbinpreet KaurECE Department, ChandigarhUniversity, Punjab, India
Priyanka KaushikDepartment of CSE (AIML)CSE‐APEX, Chandigarh UniversityChandigarh, Punjab, India
Narendra KumarDepartment of Electrical EngineeringUniversiti MalayaKuala LampurMalaysia
Vinod SharmaJiwaji UniversityGwaliorMadhya Pradesh, India
Vinod KumarElectronics and Communication EngineeringHRIT University, GhaziabadUttar Pradesh, India
Praveen Kumar MalikSchool of Electronics and Communication EngineeringLovely Professional UniversityPhagwara, Punjab, India
Manish PrateekPro Vice‐Chancellor, DBS Global University, DehradunUttarakhand, India
Jagadheswaran RajendranUniversiti Sains MalaysiaMinden, Penang, Malaysia
Rachna RathoreDepartment of MathematicsJiwaji University, GwaliorMadhya Pradesh, India
Mamoon RashidDepartment of Computer EngineeringFaculty of Science and TechnologyVishwakarma UniversityPune, Maharashtra, India
Saurabh Pratap Singh RathoreInternational Consortium of Academic Professionals for Scientific ResearchNew Delhi, India
Arvind Singh RawatUniversiti Sains MalaysiaMinden, Penang, Malaysia
Dolly SharmaDepartment of Computer Science and Engineering, Amity UniversityNoida, Uttar Pradesh, India
Madhuri SharmaResearch Associates, College of Life Sciences, CHRI Campus, GwaliorMadhya Pradesh, India
Nitin SharmaDepartment of Electronics and Communication EngineeringUIE, Chandigarh UniversityPunjab, India
Ravindra SharmaSwami Rama Himalayan UniversityUttarakhand, India
Tripti SharmaECE Department, Chandigarh University, Punjab, India
Shailendra Singh SikarwarDepartment of Computer SciencePGV College, GwaliorMadhya Pradesh, India
Satish Mahadevan SrinivasanAssociate Professor of Information Science, Engineering DivisionPennsylvania State University, USA
Abhishek TripathiDepartment of Accounting and Information SystemsThe College of New JerseyNew Jersy, USA
Nikhil VermaECE Department, Chandigarh University, Punjab, India
Binboga Siddik YarmanIstanbul University, Faculty of Engineering, Department of Electrical‐Electronics EngineeringAvcılar Campus, Avcılar/Istanbul
We are living in an era of rapid technological breakthroughs where AI has exhibited great potential for elevating mainstream clinical methods, making diagnoses swifter, more accurate, and more accessible for a wider range of demographics. In Introduction to AI in Disease Detection, the main focus is on how artificial intelligence may change disease detection by bringing together numerous viewpoints and breakthroughs across the field.
This book is the collective effort of several professionals who collaborated to great effect. Their research and real‐world applications are explored here, detailing the relationship between healthcare and artificial intelligence. Each chapter is carefully crafted so that readers can gain a sharper understanding of the opportunities and barriers that come with medical diagnostics in terms of hypothetical frameworks and functional practices. We firmly believe that the book will become a precious tool for students, scholars, and practitioners in the fields of healthcare and artificial intelligence. Not only that, but we also encourage strengthened partnerships in medical science that will lead to promising patient outcomes. The 15 chapters cover the following topics:
Introduction to AI in Disease Detection – An overview of the use of AI in detecting diseases, including the benefits and limitations of the technology.
Machine Learning Algorithms for Disease Detection – An explanation of the various machine learning algorithms used in disease detection, such as decision trees and neural networks.
Natural Language Processing (NLP) in Disease Detection – A discussion of how NLP techniques can be used to analyze and classify medical text data for disease diagnosis.
Computer Vision for Disease Detection – An overview of how computer vision techniques can be used to detect diseases in medical images such as X‐rays and MRIs.
Deep Learning for Disease Detection – A deep dive into deep learning techniques, such as convolutional neural networks (CNNs), and their use in disease detection.
Applications of AI in Cardiovascular Disease Detection – A review of the specific ways in which AI is being used to detect and diagnose cardiovascular diseases.
Applications of AI in Cancer Detection – A review of the specific ways in which AI is being used to detect and diagnose various types of cancer.
Applications of AI in Neurological Disease Detection – A review of the specific ways in which AI is being used to detect and diagnose neurological disorders, such as Alzheimer's and Parkinson's diseases.
Ethical Considerations in AI Disease Detection – A discussion of the ethical concerns surrounding the use of AI in disease detection and diagnosis, and how they can be addressed.
Clinical Validation of AI Disease Detection Models – An overview of the clinical validation process for AI disease detection models, and how they can be validated for accuracy and effectiveness.
Integration of AI in Healthcare Systems – A discussion of the challenges and opportunities of integrating AI in healthcare systems for disease detection and diagnosis.
The Future of AI in Disease Detection – A look at emerging trends and future directions in the use of AI for disease detection and diagnosis.
Limitations and Challenges of AI in Disease Detection – An examination of the limitations and challenges of AI in disease detection, including the need for large datasets and potential biases.
AI‐Assisted Diagnosis and Treatment Planning – A discussion of how AI can assist healthcare professionals in making more accurate diagnoses and treatment plans for diseases.
AI in Disease Surveillance – An overview of how AI can be used in disease surveillance and outbreak detection, including case studies of its use in real‐world scenarios.
First and foremost, we are absolutely grateful and thankful to all our colleagues and contributors, whose great experience and tremendous skills helped to actually bring this book to life. This book would not have been possible without encouragement, help, and advice from many people. We recognize the knowledge of the contributors and their immense commitment toward AI's potential in the field of healthcare. We would also like to thank the entire Wiley team, particularly Michelle and Nandhini, for their regular support throughout the entire publishing process. This book is a team endeavour, and their expertise in this field of AI in healthcare was invaluable. We would like to extend our gratitude to our friend and family members, whose continuous support throughout the journey has helped us to manage this task along with all of our other responsibilities. Last but not the least, we would like to thank the AI pioneers of this book.
Arvind Singh Rawat1, Jagadheswaran Rajendran1, and Shailendra Singh Sikarwar2
1 Universiti Sains Malaysia, Minden, Penang, Malaysia
2 Department of Computer Science, PGV College, Gwalior, Madhya Pradesh, India
The merger of disease detection and artificial intelligence (AI) predicts a paradigm shift in modern medicine that rebalances the playing field toward a new frontier in diagnostic practices and healthcare delivery [1]. Quite recently, within the last decade, there has been manifold augmentation in computational power paralleled by a corresponding growth in healthcare data, both forerunners to unprecedented developments in AI‐driven disease detection. This chapter gives an overview of the changing landscape of AI in disease detection. It reviews innovations and upcoming trends that are likely to transform clinical practice in the future. At the heart of this metamorphosis lies the power of deep learning algorithms, AI methods inspired by the arrangement and functionality of the neocortex [2].
Deep learning (DL) is very good at deciphering complex patterns from large datasets. Hence, deep learning can allow fast and accurate analysis of medical imaging, genomic sequences, electronic health records (EHRs), and other health data modalities. Drawing on this potential, AI empowers clinicians with improved accuracy in diagnosis, thus allowing for very early detection of various diseases, such as cancer and cardiovascular disorders, or even neurological conditions. However, introducing AI into disease detection does not come easy. Probably, most of the concerns are focused on the intrinsic opacity of DL models, often referred to as the “black box” problem [3].
Compared to the traditional diagnosis methods – where a clinician explains the reasoning behind the decisions – the AI algorithm is an esoteric mathematical construct, and its decision processes simply cannot be fathomed by human beings. Thus, incorporating AI‐driven diagnostics will call for a massive paradigm shift in how clinicians view algorithmic recommendations and build trust in them. Moreover, the training of AI models on such large datasets further raises ethical, privacy, and security concerns. The aggregation of such sensitive patient data is connected with enormous challenges regarding privacy and protection against bias in algorithms. Addressing these concerns will be critical in enabling the acceptance and trust of AI‐driven diagnostics among healthcare professionals and patients alike [4]. It is against this backdrop that the current research sets out to explore innovations that aspire to surmount these challenges and, in a real sense, unleash the power of AI in disease detection. By integrating multimodal fusion techniques, researchers can draw from relatively disparate data sources and, hence, compose a rather detailed profile of a patient for improved diagnostic accuracy and personalization. Transfer learning has proven to be one of the very promising approaches, which can avoid all the limitations of data scarcity by effortlessly adapting pretrained deep models of learning for specific disease detection with minimal labeled data. Furthermore, on the horizon, techniques of explainable AI (XAI) bring the promise of enhanced interpretability for AI‐driven diagnoses into reality; it would bridge the gap between algorithmic recommendations and clinical decision‐making.
XAI offers a transparent explanation of the AI‐generated predictions, empowering a clinician's understanding and trust in algorithmic outputs. This opens the possibility for collaboration between experts “acting human‐like” with AI systems. Federated learning is another upcoming paradigm that can maintain privacy but collaboratively train machine learning (ML) models across decentralized healthcare ecosystems. Federated learning decentralizes data storage and model training to address concerns about data privacy and security while enabling AI models to learn from diversified patient populations. The trajectory for the responsible integration of AI in disease detection is to be identified through an authentic synthesis between these innovations and emerging trends, contributing to advancing the paradigm of precision medicine, and boosting healthcare outcomes for patients worldwide.
Evaluate the Efficacy of Multimodal Fusion Techniques in Disease Detection
Assess the effectiveness of integrating diverse data modalities, including medical imaging, genomics, proteomics, and EHRs, through multimodal fusion techniques.
Investigate how multimodal fusion enhances diagnostic accuracy, facilitates early disease detection, and enables personalized treatment strategies.
Explore the challenges and opportunities associated with integrating heterogeneous data sources, including data compatibility, feature extraction, and model complexity.
Investigate the Potential of Transfer Learning for Disease Detection in Resource‐Constrained Settings
Evaluate the feasibility and performance of transfer learning approaches in adapting pretrained deep learning models to specific disease detection tasks with limited labeled data.
Compare the effectiveness of transfer learning across different medical imaging modalities and disease domains.
Assess the scalability and generalizability of transfer learning techniques in resource‐constrained healthcare environments, such as low‐resource settings and rural areas.
Enhance Interpretability of AI‐Driven Diagnoses through XAI Techniques
Explore state‐of‐the‐art XAI methods for generating transparent and interpretable explanations for AI‐generated predictions in disease detection.
Assess how XAI impacts clinician trust, acceptance, and decision‐making regarding the adoption of AI‐powered diagnostic tools.
Research how a tradeoff between interpretability and performance in AI models can be made. And try to do both.
Address Ethical and Privacy Concerns in AI‐Powered Disease Detection through Federated Learning
Evaluate the feasibility and effectiveness of federated learning approaches to secure data while enabling training across collaborative models across multiple healthcare organizations.
Research the impact of federated learning to minimize algorithmic bias and ensure equitable access to AI‐based diagnostic tools.
Explores the legal and policy implications of federated learning in healthcare, including data governance, consent management, and compliance with data protection regulations.
Assess the Clinical Utility and Adoption Barriers of AI‐Driven Disease Detection
Conducting user research as well as clinical trials will give a realistic effectiveness and clinical utility of AI‐based diagnostic tools in disease detection.
They present barriers to adoption, which include clinician skepticism, workflow integration challenges, and regulatory barriers; they recommend strategies to overcome them.
Research economic issues in implementing AI‐based disease detection methods such as cost‐effectiveness, reimbursement policies, and return on investment for healthcare providers [
5
,
6
].
Explore Novel Approaches for Continuous Monitoring and Early Warning Systems in Disease Detection
Investigate the potential of AI‐based continuous monitoring systems, such as wearables and remote patient monitoring platforms, to detect early signs of illness and health deterioration.
Assess the feasibility and scalability of integrating continuous surveillance data into AI‐based disease detection algorithms.
Explore advanced data analytics techniques, including time series analysis and anomaly detection, to identify subtle changes in patient health trajectories and inform interventions timely intervention
[7]
.
Foster Interdisciplinary Collaboration and Knowledge Translation in AI‐Powered Disease Detection
Facilitate knowledge exchange and collaboration among computer scientists, clinicians, biomedical researchers, and policymakers to drive innovation in disease detection using AI.
Develop educational initiatives and training programs to bridge the gap between AI research and clinical practice, equipping healthcare professionals with the skills and knowledge needed to effectively take advantage of AI‐based diagnostic tools.
Promote ethical considerations and responsible practices of AI in disease detection through cross‐sector dialogue, stakeholder engagement, and public awareness efforts
[8]
.
Artificial intelligence has been transforming industries – not excluding health – into how much attention is put to its application for disease detection. This literature review explores the current state of AI in disease detection, its methodologies, benefits, challenges, and prospects (see Table 1.1).
AI techniques, specifically ML and DL, are the bedrock of improvements in disease detection. ML algorithms scan Big Data for any trend that may indicate various diseases. Diagnosis of diabetes and heart diseases is regularly carried out by supervised learning, where the model is trained on labeled data. Unsupervised learning with unlabeled data can allow the discovery of hitherto unknown patterns for diseases and patient clusters [9]. Deep learning, which is a subdomain of ML, uses neural networks that have multiple layers in the analysis of complex medical data such as medical imaging. Convolutional neural networks (CNNs) have proven very accurate in interpreting radiological images, detecting abnormalities that may point to cancer, pneumonia, and other serious diseases [10].
Table 1.1 Key findings and research implications in focus areas.
Year
Focus area
Methodology
Key findings
Research implications
2022
Chronic disease prediction
Machine learning (ML) on electronic health records (EHRs)
Demonstrates the potential of AI in early detection and preventive healthcare strategies for chronic diseases
Enhancing proactive healthcare interventions
2023
Disease diagnosis
Systematic literature review
Provides a roadmap for integrating AI‐driven diagnostic tools into clinical practice, enhancing diagnostic accuracy and efficiency
Improving diagnostic capabilities in clinical settings
2021
Disease diagnostics
Critical review and classification
Highlights diverse applications of AI in disease detection and guides future research directions
Guiding future research in AI‐driven diagnostics
2023
Heart disease risk prediction
Deep learning with feature augmentation
Demonstrates the potential of deep learning in cardiovascular risk assessment and personalized medicine
Advancing personalized risk assessment in cardiology
2024
Cancer classification
Systematic literature review
Advances in image‐based tumor analysis and diagnostic accuracy for cancer classification
Improving early detection and treatment outcomes in oncology
Disease detection engages AI in a wide range of medical fields. On the other hand, AI systems are said to identify cancers from imaging information with a high degree of accuracy, which is comparable to that of human experts in oncology. It has been shown that AI can predict breast cancer by analyzing mammograms and can also reduce false positive results and, thus, potential biopsies [11]. In cardiology, a cardiovascular risk predictor using electrocardiograms, echocardiograms, and other clinical data is possible. Such predictions enable early interventions and, therefore, contribute to a decreased incidence of heart attacks and strokes. AI is also valuable in the identification of infectious diseases. For instance, during the COVID‐19 pandemic, AI models were deployed to analyze chest X‐rays and CT scans, which provided a fast track to diagnosis of the virus. Furthermore, AI‐impended diagnosis platforms have been very instrumental in making diagnoses of diseases like tuberculosis, malaria, and HIV in regions where health professionals are poorly represented [12].
Even with all that potential, detection using AI will be subject to some disease challenges. Data quality and availability are two big problems. The quantity of data required for the training of AI systems should be huge and of high quality, but medical data might be inconsistent, incomplete, or biased. The other concern is related to data privacy and security since the information belonging to a patient is susceptible in nature. Another primary concern would be the ethical considerations [13]. AI uses have to be fair, transparent, and accountable. There is a risk that AI will perpetuate biases in healthcare if these training datasets are not representative of diverse populations, as there can be biases in the data itself. Furthermore, the AI model itself, which plays a significant role in decision‐making, is often thought of as an impenetrable “black box” for health providers to build trust and comprehensively understand recommendations made by AI [14].
The future for AI in disease detection is promising as technology evolves further and is integrated with healthcare systems. AI's analytical abilities will be beneficial in personal medicine, the treatment domain tailored according to one's characteristics through genetics and lifestyle. The role of AI in predicting outbreaks of diseases and managing responses in public health will only continue to grow. State‐of‐the‐art technological solutions, healthcare domain expertise, and policy must all come together to work through a variety of challenges if the full potential of AI is to be explored in disease prediction [15].
The regulatory frameworks and ethical guidelines for AI use must be firmly established so that AI is safely and equitably harnessed in healthcare [16]. AI in disease detection improves accuracy, efficiency, and early intervention associated with the process. Further research and collaboration promises a bright future where AI will make critical contributions toward disease detection and care of patients. If taken further, it surely will help globally enroll global health challenges in patients worldwide [17].
AI has garnered significant attention in recent years for its potential to revolutionize various aspects of healthcare, including disease diagnosis, prediction, and management. The comprehensive literature review in Table 1.2 presents insights from five seminal papers that explore the application of AI in healthcare predictive analytics, dermatology, and pancreatic cancer diagnosis [18]. Through a critical analysis of these studies, this review aims to provide a comprehensive overview of the current state of research and to identify key trends, limitations, and future prospects in AI‐driven healthcare applications (Table 1.3).
AI has emerged as a revolutionary force in the medical field, transforming how diseases are detected and diagnosed. Leveraging vast amounts of data and advanced algorithms, AI systems can identify patterns and anomalies that often elude human practitioners. This literature review provides an overview of AI's application in disease detection, examining its benefits and limitations [19].
Table 1.2 Literature review.
Author
Technique used
Review and key points from technological progress and the role of data in the medical field
Kurzweil
Singularity
Technology is advancing rapidly, potentially leading to a “singularity” where technological growth becomes uncontrollable.
McShea
Complexity thesis
Technological evolution parallels biological evolution, though evidence supporting this remains inconclusive.
Deleuze
Systemic perspective
Author emphasizes the holistic view of technological and social advancements, highlighting interdependencies and impacts across systems.
Volti
Social and institutional change
Technological change influences social and institutional structures, suggesting inseparability in modern contexts.
Pollock
Communication and connections
Communication technologies are essential bridges between tangible and intangible realms, facilitating societal and technological integration.
Scherer
Emotional and behavioral impacts
Author speculates on how technological changes may alter human emotions and behaviors, influencing societal norms and interactions.
Liu
Intangible cultural heritage
Technology has become integrated into cultural heritage, shaping societal values and experiences.
Des Roches et al.
Support systems and clinical decisions
The implementation of digital health records and decision support systems can enhance medical practices and patient outcomes.
Wrong and right diagnosis:
AI techniques, especially ML‐ and DL‐based techniques, have the ability to scan medical images and genetic data along with the history of the patients in the diagnosis of diseases at their early stages. For example, the AI technique recognizes early‐stage cancers from imaging modalities like mammograms and CT scans and many times with greater accuracy than human radiologists. The detection at an early stage is very important in case of diseases like cancer because timely intervention improves a lot with the prognosis
[20]
.
Table 1.3 Review of critically examines AI‐driven healthcare research trends and limitations.
Year
Focus area
Methodology
Key findings
Research implications
2023
Pancreatic cancer diagnosis
AI‐driven techniques
Highlighted challenges and future prospects in AI‐based pancreatic cancer diagnosis.
Improving early detection and prediction in pancreatic cancer
2023
Healthcare predictive Analytics
Machine learning and deep learning techniques
Surveyed the current landscape and emerging trends in healthcare predictive analytics.
Guiding the development of predictive analytics tools in healthcare
2020
AI in dermatology
Review and analysis
Explored the current status and future directions of AI applications in dermatology
Advancing diagnostic accuracy and treatment outcomes in dermatology
2020
AI applications in dermatology
Review and analysis
Discussed the applications and challenges of AI in dermatology
Guiding the development and deployment of AI‐driven tools in dermatological practice
2023
Pancreatic cancer prediction
Scoping review
Provided insights into the current evidence and gaps in research on AI for pancreatic cancer prediction
Translating AI‐driven predictions into clinical practice effectively
Knowing how to work with Big Data:
The medical sphere is in the position to generate substantial data records, including medical imaging data, genomic sequences, and even data on medical history. AI is well qualified to effectively analyze this data for any patterns or correlations that otherwise would be very difficult to catch by classical statistical methods. Thus, when it comes to personalized medicine, such properties of AI help manage tailoring treatments to individual patients according to their specific genomics makeup and health history
[21]
.
Reduction of diagnostic errors:
Diagnoses are a daunting task in healthcare, and when they go wrong, inappropriate treatments and poor patient outcomes may result. AI can help diagnose disease by providing a second opinion and even detect an error on the part of the first opinion, thereby reducing misdiagnosis. For example, AI methods have been developed for the grading of diabetic retinopathy in retinal images with sensitivity and specificity that match experienced ophthalmologists
[22]
.
Efficiency and cost‐effectiveness:
It is highly expected that artificial intelligence will reduce the time and effort needed for any kind of diagnostic workflow. AI can automate workflows used in disease diagnosis, including image analysis. Huge medical images are captured automatically by artificial intelligence and analyzed quickly, leaving the complex cases to radiologists. As such, practitioners can save time and money while improving access to diagnostic services for underserved populations
[23]
.
Data quality and bias:
The performance of AI in disease detection is heavily predicated on the quality of data used during training. Low‐quality or biased data result in inaccurate predictions that exaggerate preexisting healthcare inequities. For example, AI systems trained primarily using data from one demographic perform poorly for diverse patient populations, creating inequity in care
[24]
.
Interpretability and transparency
: Most AI models, especially deep learning networks, are black boxes that do not give any insight into how they reach their conclusions. In a medical context, this could be very worrisome since it is always necessary to know why a specific diagnosis was reached for clinical decision‐making. Efforts toward developing XAI techniques are in process, but attaining model performance with interpretability remains elusive
[25]
.
Regulatory and ethical considerations:
Many regulatory and ethical issues have been raised regarding the deployment of AI in disease detection. The safety, effectiveness, and accountability of AI systems are paramount to be established; however, the regulatory standards for AI in healthcare are still evolving. In addition, ethical considerations regarding patient consent, data privacy, and the probability of losing a job to AI must be managed with due care to make sure that AI technologies are responsibly underway
[26]
.
Integrating into clinical workflows:
AI systems can be integrated with existing clinical workflows. Any health providers are bound to resist new technologies, mainly if they involve significant changes in current conventional practices. Additionally, the process of integration is often inextricably linked to challenges of interoperability since the AI system will have to communicate seamlessly – not only across a variety of EHR systems but also with other medical technologies as well
[27]
.
AI has enormous potential to improve disease detection because it can offer earlier diagnosis, efficiency in dealing with Big Data, diagnostic accuracy, and cost‐effectiveness. However, some challenges must be addressed to ensure the successful application of AI in healthcare. These include issues such as data quality and model interpretability, as well as concerns emanating from regulators, ethicists, and appropriate integration into clinical workflows. Further research and collaboration between clinicians, data scientists, and policymakers will be required to understand the full potential of AI for disease detection and to ensure safe and equitable deployment.
Supervised learning is an elemental AI technique; its application in disease detection is comprehensive. The training of models happens on labeled datasets; that is, the input data is linked with the correct output. The idea is to let the model learn under this mapping of inputs to outputs so that if some new unseen data is provided, then the model could accurately predict the associated output. Consider, for example, AI use in diagnosing diabetes; the model could be a supervised learning algorithm that has been trained using data with characteristics like age, BMI, blood pressure, insulin level, and family medical history. The output label will be whether they have the disease or not. This will generally be carried out by implementing regression, decision trees, or support vector machines and neural network algorithms. By use of these models, new patients can then be classified into either diabetics or nondiabetics, depending on the pattern that is gained during their training.
AI performs very well in situations where sufficient, labeled data is readily available. Because the data used in supervised learning is well labeled, disease prediction takes place with a high degree of accuracy. Doctors make ample use of this technique in the diagnosis for nearly every kind of disease. This ranges from chronic diseases like heart disease to acute diseases like infections.
Unsupervised learning is about discovering unknown patterns in data. As a result, these are unlabeled responses due to the exploratory nature of this approach. Another case involves scenarios where labeled data might be scarce or unavailable.
Most of the time, unsupervised learning in healthcare will have to do with patient subgrouping into those with similar characteristics or disease trajectories for individualized medicine. Clustering algorithms include K‐means, hierarchical clustering, and DBSCAN, grouping patients by their similarities in the data. For example, unsupervised learning can also segment patients according to genetic profiling data with disease subtypes like different types of cancer. Other vital techniques in unsupervised learning are dimensionality reduction algorithms that include PCA and t‐SNE.
These are used to reduce the complexity of the medical data, allowing a visualization in showing the trends for more accessible analysis, which could even lead to the discovery of new biomarkers or risk factors for diseases.
Deep learning is a subsection of machine learning that handles neural networks with multiple layers; hence, it is “deep.” This makes it possible to model complex patterns in Big Data. DL architectures with practical applications already realized in visual data analysis, like medical imaging, are CNNs. In a variety of ways, CNNs have greatly improved the accuracy of the detection of diseases from medical imaging. They comprise layers that enable learning a spatial hierarchy of features from input images. They know and adapt automatically; for example, in radiology, they interpret X‐ray, MRI, and CT scans for anomalies such as tumors, infections, or fractures. A CNN architecture involves convolutional layers, pooling layers, and fully connected layers. Convolutional layers convolve the input image with filters to identify edges, textures, and shapes. Pooling layers are used to reduce the dimensionality of the data in space. In turn, this will make the computation more efficient with reduced loss of critical features. Fully connected layers interpret these features to finalize classification.
Imaging is another significant area in which AI has made great strides. Deep learning enforces or enables the construction of accurate diagnostic tools for techniques like CNNs. AI can aid radiologists in automated abnormality detection, quantification of disease progression, or even in predicting patient outcomes. This could be exemplified by using AI algorithms to improve mammography screening by identifying possible indicators of breast cancer more accurately than traditional methods. AI can analyze a CT scan to find nodules that might not be visible to the human eye in the detection of lung cancer. More elaborate still, AI in medical imaging does not stop at cancer detection; it dramatically helps in diagnosing conditions such as pneumonia, tuberculosis, and cardiovascular diseases.
AI has done very well in oncology, especially in the area of cancer detection and diagnosis. Complex AI models read various types of medical imaging and histopathological data to identify cancerous cells and tissues more accurately. For instance, AI systems can be applied in mammography to detect breast cancer at an early stage. The AI system reads images that are produced by a mammogram; it highlights suspicious areas that need to be evaluated further. AI is applied in dermatology to treat skin lesions to help prevent melanoma by reassessing pictures of abnormality in the skin. In pathology, AI also plays a vital role. It helps have a more accurate diagnosis of cancer by precise analysis of tissue biopsies due to digital pathology enabled by AI that automates examination or analysis of tissue samples.
In cardiology, AI is used to predict and diagnose cardiovascular diseases. This involves a massive dataset that contains electrocardiograms and echocardiograms, among other clinical records. The AI model can pick some patterns that reflect some of the heart diseases, such as arrhythmias, coronary artery disease, and even heart failure. For example, AI algorithms can check ECG data about monitoring atrial fibrillation (afib or AF): one of the most prevalent but underdiagnosed arrhythmias that may cause stroke. The algorithms can continuously monitor heart rhythms and raise the alarm for possible problems to health professionals so that appropriate action can be taken on time.
Artificial intelligence could analyze data even from imaging on echocardiograms. It would report on the heart's function and make it able to identify conditions like hypertrophic cardiomyopathy. With such exact measurements and small changes, AI brings along enhanced diagnostic skills to cardiologists.
For instance, AI applications in neurology are all about early detection and diagnosis of symptoms of neurodegenerative conditions like Alzheimer's, Parkinson's, and multiple sclerosis (MS), which usually manifest with subtle and slow‐to‐develop symptoms. Early diagnosis of these diseases can be tricky. ML models can therefore be useful as they harness different datasets, including brain imaging, genetic data, and clinical records, to reveal early signals of neurological diseases. For instance, AI can process MRI scans to reveal brain changes associated with Alzheimer's disease, often years before the clinical symptoms occur. This becomes a very important step for the commencement of treatments that can be applied to delay the progress of the illness.
In the case of Parkinson's disease insight, they have greatly aided in early diagnosis through recorded movement patterns and voice changes at the onset of symptoms. Wearable devices engineered with intervention in AI support constant monitoring of patients with proven potential to provide invaluable data in enabling early diagnosis and better disease management provision.
AI has become an essential tool in aggressive infectious disease management. This is particularly urgent in outbreak and pandemic situations. During the COVID‐19 pandemic, AI did play a big role in a myriad of aspects, connecting disease detection to the prediction of outbreak trends. On this note, AI models could analyze chest radiographs or CT scans to detect COVID‐19 pneumonia symptoms to help in the rapid diagnosis of the virus. These models are essential in triaging patients and allocating healthcare resources appropriately. Beyond the level of diagnosis of individual cases is AI applied to infectious disease tracking. ML algorithms span data from sources such as social media, travel patterns, and healthcare records and crunch the data to predict outbreak trends and detect hotspots. This information is critical for public health officials to implement timely interventions and allocate resources efficiently.
AI also enables the discovery of treatments and vaccines by decoding biological information to identify possible targets that increase the pace of drug discovery. For example, AI was applied to problems including SARS‐CoV‐2 protein structure predictions – a process reportedly connected to the rapid development of COVID‐19 vaccines.
Datasets should include medical imaging, genomic sequences, proteomic profiles, EHRs, and other sources of health data. Ensure that all regulations concerning personal data and protection of privacy are observed, using the appropriate IRB(auto) approvals. Standardize the format for each dataset. Quality controls check and preprocess the datasets to remove noise, artifacts, and missing values. Thus, annotated, curated datasets would be ready for model training, validation, and testing – what it represents includes enough patients' variations and disease categories.
Implement the state‐of‐the‐art innovative multimodal fusion techniques developed recently, including late fusion, early fusion, and cross‐modal attention mechanisms for integrating heterogeneous data modalities. Designs bespoke architectures of fusion by optimization of extracted features, fusion strategies, and model architecture from one disease detection task to another. Train multimodal fusion models that are going to be employed with DL frameworks; then, with the help of GPU‐based accelerated computing, efficiently train models using TensorFlow or PyTorch. Evaluate model performance using metrics such as accuracy, sensitivity, specificity, and area under the receiver operating characteristic curve (AUC‐ROC).
Pretrain large‐scale datasets like ImageNet or MIMIC‐III to learn generic feature representations in DL models; fine‐tune the pretrained model for disease detection tasks using transfer learning techniques so that model parameters are adapted into target domains having very few labeled data. This might also include domain adaptation methods, such as adversarial learning or domain adversarial neural networks for aligning feature distributions across the source and target domains. Assess performance in transfer learning across different medical imaging modalities and disease categories and benchmark against baseline models trained from scratch.
Design and implement interpretable ML algorithms, such as decision trees, rule‐based models, and attention mechanisms, so that AI‐driven diagnoses can be transparently explained. Develop customized modules of XAI in DL architectures that could potentially help clinicians classically interpret model predictions through saliency maps, attention weights, and feature attributions. Design user studies followed by qualitative evaluations to assess comprehensibility, trustworthiness, and clinical utility in explanations generated using XAI. Iterate on the XAI techniques based on feedback by healthcare professionals, for example, to adjust interpretability features or optimize model‐agnostic/model‐specific explanations as shown in Figure 1.1.
Figure 1.2 provides a federated learning framework where it enables collaborative model training across distributed healthcare institutions while ensuring data privacy and security. Implement secure aggregation protocols – secure multiparty computation, differential privacy – for appropriate aggregations of updates to models such that individual data privacy is preserved. Design federated learning algorithms compatible with heterogeneous data sources and network conditions to accommodate variations in data distributions and communication constraints. Assess the performance of disease detection tasks in a federated learning setup against those obtained using a centralized approach to training, considering model convergence, privacy guarantee metrics, and computational efficiency.
Figure 1.1 Architectural framework.
Figure 1.2 Flow diagram of architectural framework.
Collaborate with healthcare providers and clinical researchers to conduct validation studies in real‐world healthcare settings, evaluating the clinical performance and utility of the system. For detecting diseases based on AI, deploy AI‐driven diagnostic tools in clinical workflows, integrating them into existing healthcare infrastructure and electronic medical record systems.
Evaluate the impact of AI‐driven disease detection on clinical decision‐making, patient outcomes, and healthcare resource utilization through prospective clinical trials and observational studies.
Collaborate with stakeholders to identify adoption barriers and facilitators, addressing concerns related to workflow integration, clinician acceptance, regulatory compliance, and reimbursement policies.
Develop prototype continuous monitoring systems, leveraging wearable devices, sensor networks, and IoT platforms to collect longitudinal health data.
Implement ML algorithms for real‐time analysis of streaming data streams, detecting anomalous patterns indicative of disease progression or health deterioration.
Validate continuous monitoring systems through longitudinal studies and clinical trials, assessing their sensitivity, specificity, and predictive value in early disease detection and risk stratification.
Collaborate with healthcare providers to integrate continuous monitoring solutions into routine clinical practice, establishing protocols for data interpretation, patient monitoring, and intervention strategies.
Supervised learning techniques have been highly successful in diagnosing diseases across several fields of medicine. Literature shows that large, well‐trained datasets can achieve high accuracy. For instance, in the case of diabetic retinopathy diagnosis, models based on supervised learning have been shown to indicate an accuracy rate as good as that of an expert ophthalmologist. In the case of breast cancer detection, supervised learning algorithms will be able to bring down rates of false positives and false negatives, hence increasing the reliability of mammogram interpretations.
Figure 1.3 Merits and limitation of AI in disease detection.
In fact, in general, the success of supervised learning for disease diagnosis depends on the size and the quality of the training datasets. In other words, if large and well‐annotated datasets are given, the models can quickly learn complex patterns underlying different diseases. Performance suffers when the data is biased or unrepresentative of the broader patient population.
Moreover, while supervised learning models perform superlatively well in particular tasks, they need to be constantly updated – by being retrained on new data – to stay accurate and relevant (Figure 1.3).
These multimodal fusion techniques can be used to improve the accuracy in disease detection compared to the single‐modality methods. Such modalities as medical imaging, genomics, proteomics, and EHRs include redundant information that contributes to providing complete patient profile for diagnostic purposes.
Overall, late fusion methods operationalized at a classification stage by integrating all feature representations from single modalities perform better at most tasks related to disease detection. The reason is that late fusion will let the model capture complex interactions across modalities while still preserving their characteristics – these lead to better performance in most disease detection tasks.
Attention mechanisms, in particular cross‐modal co‐attention and cross‐modal self‐attention, primarily aim to enhance the process of fusion with heterogeneous data sources. Attention mechanisms enable the model to focus on relevant information while suppressing noise and the least relevant features. By doing so, it indeed improves the overall performance.
Transfer learning performs quite well, especially when labeled data are limited or there is a domain shift between training and deployment environments. Pretrained models show faster convergence and accuracy compared to models trained from scratch, using knowledge learned from large datasets.
These domain adaptation techniques alleviate the domain shift problem between source and target domains and improve model generalization ability and robustness. Especially in adversarial learning, a very popular DANN aligns feature distributions across domains, thus fitting a model well to target datasets.
Further fine‐tuning performed on target datasets with the pretrained models makes them adaptable to detection tasks involving a wide array of medical imaging modalities and diseases. That is the case whereby relevant features would be transferred from the source domain as it fine‐tunes or adapts to the nuances of this target domain to enable better performance.
These techniques of XAI are essential to build more interpretable and trustworthy AI‐driven diagnosis systems that clinicians could embrace and use. Clinicians claim to have more confidence in algorithmic recommendations with transparent explanations.
Long story short, attribution methods like gradient‐based saliency maps and layer‐wise relevance propagation enable clinicians to understand the rationale behind the predictions made by a model through the highlighting of relevant features in input data. These are the methods used in deepening insight into AI model decision processes, hence making them more transparent and trustworthy.
Model‐agnostic techniques to XAI methods, such as LIME and SHAP, improve flexibility in the creation of explanations on their own. Basically, almost all the techniques give insight into model behavior while improving the process of making predictions, hence arming clinicians with an informed choice.
Federated learning provides the collaborative training of models across decentralized healthcare institutions while maintaining privacy and security. Secure aggregation protocols are developed to ensure confidentiality and integrity of data with respect to patients, which solves privacy problems.
Federated learning algorithms work competitively well in disease detection compared to their counterparts trained in a decentralized way. In this way, algorithms converge and become as accurate as possible while maintaining data sovereignty and being compliant with regulatory constraints. This model training collaboration enables knowledge sharing for developing robust AI models across different patient populations.
Federated learning is a model training approach that allows for extremely collaborative information sharing between health institutions like those above in the development of generalizable AI models, therefore solving one of the biggest challenges in artificial intelligence: the challenge of data silos. This will thus help pool knowledge and experience from a range of experts in safeguarding sensitive patient information.
Clinical validation and adoption studies provide insights into real‐world empirical evidence on the clinical utility and effectiveness of AI‐driven disease detection systems in healthcare. They have shown improved diagnostic accuracy, earlier detection of diseases, and better health outcomes for patients in most healthcare settings.