Advances in and the Applicability of Machine Learning-Based Screening and Early Detection Approaches for Cancer: A Primer

Simple Summary Non-communicable diseases in general, and cancer in particular, contribute greatly to the global burden of disease. Although significant advances have been made to address this burden, cancer is still among the top drivers of mortality, second only to cardiovascular diseases. Consensus has been established that a key factor to reduce the burden of disease from cancer is to improve screening for and the early detection of such conditions. To date, however, most approaches in this field relied on established screening methods, such as a clinical examination, radiographic imaging, tissue staining or biochemical markers. Yet, with the advances of information technology, new data-driven screening and diagnostic tools have been developed. This article provides a brief overview of the theoretical foundations of these data-driven approaches, highlights the promising use cases and underscores the challenges and limitations that come with the introduction of these approaches to the clinical field. Despite the efforts of the past decades, cancer is still among the key drivers of global mortality. To increase the detection rates, screening programs and other efforts to improve early detection were initiated to cover the populations at a particular risk for developing a specific malignant condition. These diagnostic approaches have, so far, mostly relied on conventional diagnostic methods and have made little use of the vast amounts of clinical and diagnostic data that are routinely being collected along the diagnostic pathway. Practitioners have lacked the tools to handle this ever-increasing flood of data. Only recently, the clinical field has opened up more for the opportunities that come with the systematic utilisation of high-dimensional computational data analysis. We aim to introduce the reader to the theoretical background of machine learning (ML) and elaborate on the established and potential use cases of ML algorithms in screening and early detection. Furthermore, we assess and comment on the relevant challenges and misconceptions of the applicability of ML-based diagnostic approaches. Lastly, we emphasise the need for a clear regulatory framework to responsibly introduce ML-based diagnostics in clinical practice and routine care.