The methodology of human diseases risk prediction tools

Disease risk prediction tools are used for population screening and to guide clinical care. They identify which individuals have particularly elevated risk of disease. The development of a new risk prediction tool involves several methodological components including: selection of a general modelling framework and specific functional form for the new tool, making decisions about the inclusion of risk factors, dealing with missing data in those risk factors, and performing validation checks of a new tool’s performance. There have been many methodological developments of relevance to these issues in recent years. Developments of importance for disease detection in humans were reviewed and their uptake in risk prediction tool development illustrated. This review leads to guidance on appropriate methodology for future risk prediction development activities.