Introduction
The healthcare industry is among the most profoundly impacted by cutting-edge technologies, particularly artificial intelligence (AI), which remains at the vanguard of technological innovation [1]. As healthcare challenges intensify globally exacerbated by aging populations, rising costs, and pandemics, AI technologies are promising to enhance disease detection, optimize service delivery, and accelerate drug discovery [2]. AI encompasses a range of technologies, including machine learning (ML), natural language processing (NLP), computer vision, and advanced computing, all of which are revolutionizing various facets of medicine. The growing need for greater efficiency, accuracy, and personalized care in healthcare has driven the exploration of AI's potential applications [3]. AI is transforming every facet of medicine, from disease diagnosis to personalized treatment plans, providing unparalleled opportunities to enhance patient outcomes and optimize healthcare delivery. AI-powered systems, leveraging ML algorithms, can swiftly and accurately analyse vast datasets, including genetic, physiological, imaging, and electronic healthcare records (EHRs) far exceeding human capabilities [1]. These technologies utilize algorithms to analyse medical images, genetic data, EHRs, and patient histories, helping clinicians diagnose conditions more quickly, accurately, and efficiently [4]. In specialties such as radiology, pathology, and genomics, AI and ML significantly enhance the interpretation of medical data, enabling more accurate, efficient, and cost-effective healthcare solutions.
Significance of AI and ML in Modern Diagnostics
AI and ML technologies are particularly transformative in medical diagnostics. Traditional diagnostic methods, which largely rely on human expertise and standard diagnostic tools, have faced significant challenges, including limitations in accuracy, time efficiency, and the potential for human error [5]. These issues not only expose the vulnerabilities of existing healthcare systems but also highlight the urgent need for innovative solutions to enhance care delivery and improve administrative processes. AI and ML technologies (Table 1) overcome these limitations by facilitating the fast processing of large, diverse datasets, which aids in early detection, disease prediction, and clinical decision-making. By utilizing advanced algorithms capable of analyzing medical images, genomic data, and patient histories, AI-driven systems assist clinicians in diagnosing conditions with greater speed and precision [4]. In fields such as radiology, pathology, and genomics, AI and ML enable the detection of subtle patterns and abnormalities that might otherwise be overlooked, thereby improving diagnostic accuracy and reducing the risk of misdiagnosis [6]. AI is playing a crucial role in optimizing drug discovery and treatment selection, offering a new era of personalized medicine where interventions are tailored to individual patient profiles [7]. The integration of AI in diagnostics is enhancing the accuracy of medical assessments while also streamlining healthcare workflows, leading to improved patient outcomes and accelerated innovation in healthcare [8]. This comprehensive review aims to explore the transformative role of AI and ML technologies in the field of medical diagnosis.
AI and ML in Cancer Diagnosis
Breast cancer
AI and ML tools have significantly advanced breast cancer detection and diagnosis by enhancing the performance of traditional methods [27]. ImageChecker M1000, a traditional CAD system, uses computer vision for mammography pattern recognition [28] but has limitations in accuracy. In contrast, deep learning solutions from initiatives like the dream challenge, along with companies such as Therapixel and Kheiron Medical Technologies, leverage convolutional neural networks (CNNs) to improve breast cancer screening. There is also growing development in AI tools for other imaging modalities such as ultrasound (US) and magnetic resonance imaging (MRI), further improving diagnostic accuracy. These AI/ML tools are applied across four key imaging modalities—mammography (MG), US, MRI, and histopathology (HP) to support tasks like screening, detection, segmentation, and classification [29, 30].
Lung cancer
AI and ML tools have shown substantial promise in lung cancer diagnosis, treatment, and prognosis [31]. Technologies such as Artificial Neural Networks (ANN), Support Vector Machines (SVM), and Random Forest Neural Networks (RFNN) have been applied to accurately differentiate between