ARTIFICIAL INTELLIGENCE IN CLINICAL LABORATORY MEDICINE: APPLICATIONS IN BIOMARKER INTERPRE-TATION, DIAGNOSTIC PREDICTION, AND CANCER SCREENING
Abstract
The increasing complexity of clinical laboratory data has led to the growing research and investigation of the use of artificial intelligence (AI) to aid in the interpretation of such data and to support diagnostic decision-making. With increasing availability of biochemical, hematological, molecular, proteomic, and image-based laboratory information, machine learning (ML) and deep learning (DL) approaches have provided opportunities to uncover clinically relevant patterns that may not be easily detected by traditional methods. In this review, the uses of AI in clinical laboratory medicine are discussed, focusing on the interpretation of biomarkers, the prediction of diagnosis, optimization of laboratory workflows, and cancer screening. AI-based methods can help to combine multiple biomarkers to capture multivariable signatures, aid in disease classification and risk prediction, and enable the analysis of high-dimensional molecular and proteomic datasets. AI has been explored in cancer screening for the interpretation of circulating biomarkers, liquid biopsies, and digital pathology to aid in early cancer detection and risk assessment. In addition to its role in the preanalytical stage of laboratory testing, AI can also help with the analytical phase and the postanalytical stage by performing quality control, detecting anomalies, interpreting tests automatically, and providing clinical decision support. Despite all these opportunities, implementation in the clinic is limited by data quality, missing information, varying measurements, class imbalance, selection bias, limited external validation, model interpretability, and differences between laboratories. In addition to these considerations, ethical issues related to patient privacy, data security, algorithmic biases, and accountability play a role in responsible AI implementation. Standardization and representativeness of the datasets, multicenter and prospective validation, proper calibration, assessment of usefulness in clinical practice, incorporation in laboratory information and health records, and ongoing monitoring following implementation are necessary for successful translation into routine use. In conclusion, AI shows great promise to not only revolutionize the way clinical laboratory medicine is practiced but also to serve as an integral element in a multivariable and increasingly individualized diagnostic process, with human oversight as a crucial part of the clinical decision-making process.
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