A Foundational Framework and Methodology for Personalized Early and Timely Diagnosis

Early diagnosis of diseases holds the potential for deep transformation in healthcare by enabling better treatment options, improving long-term survival and quality of life, and reducing overall cost. With the advent of medical big data, advances in diagnostic tests as well as in machine learning and statistics, early or timely diagnosis seems within reach. Early diagnosis research often neglects the potential for optimizing individual diagnostic paths. To enable personalized early diagnosis, a foundational framework is needed that delineates the diagnosis process and systematically identifies the time-dependent value of various diagnostic tests for an individual patient given their unique characteristics. Here, we propose the first foundational framework for early and timely diagnosis. It builds on decision-theoretic approaches to outline the diagnosis process and integrates machine learning and statistical methodology for estimating the optimal personalized diagnostic path. To describe the proposed framework as well as possibly other frameworks, we provide essential definitions. The development of a foundational framework is necessary for several reasons: 1) formalism provides clarity for the development of decision support tools; 2) observed information can be complemented with estimates of the future patient trajectory; 3) the net benefit of counterfactual diagnostic paths and associated uncertainties can be modeled for individuals 4) 'early' and 'timely' diagnosis can be clearly defined; 5) a mechanism emerges for assessing the value of technologies in terms of their impact on personalized early diagnosis, resulting health outcomes and incurred costs. Finally, we hope that this foundational framework will unlock the long-awaited potential of timely diagnosis and intervention, leading to improved outcomes for patients and higher cost-effectiveness for healthcare systems.