Paper short abstract:

Research on biomarkers for brain diseases has led to knowledge on disease pathways and diagnostic tests. This impacts disease conceptualization, patients’ experiences and health systems. We present first results of a project studying the broader impacts of this ‘biomarkerization’ of brain disease.

Paper long abstract:

Research on biomarkers for brain diseases has led to new knowledge of disease pathways. This research is fueled by the hope that biomarker tests eventually will predict, diagnose or prognosticate brain diseases and help selecting patients for therapy and monitoring treatment effects. The focus on biomarkers has become the dominant direction in research on brain diseases (‘biomarkerization’), at the expense of other directions. Moreover, the increasing use of biomarker tests also affects the conceptualization of the diseases and the experience of patients and health systems. In an interdisciplinary project we analyze the broader impacts of the ongoing ‘biomarkerization’ of brain disease and how these are evaluated by stakeholders.

In this presentation, we compare the emergence of biomarkers in disease criteria and diagnostic guidelines for Multiple Sclerosis, Alzheimer’s disease and Parkinson’s disease, focusing on the resulting shifts in conceptualization of these diseases. An important aspect that we will address is the moment of diagnosis, is this becoming increasingly early, shifting from the symptomatic phase to prodromal and preclinical phases? Furthermore, we will discuss shifts in the goals that guide the revisions of the diagnostic criteria, and the reasons for these revisions. In addition, we will discuss the number of requirements for diagnosis that are captured by the criteria. These developments have the potential to significantly impact both clinical and research practice for brains diseases and thus we discuss how these findings may inform a generic analysis of biomarkerization in the domain of brain diseases.