Biomarkers of Alzheimer Disease

Alzheimer disease (AD) was once a clinical diagnosis confirmed by postmortem autopsy. Today, with the development of AD biomarkers, laboratory assays to detect AD pathology are able to complement clinical diagnosis in symptomatic individuals with uncertain diagnosis. A variety of commercially available assays are performed as laboratory-developed tests, and many more are in development for both clinical and research purposes.

The role of laboratory medicine in diagnosing and managing AD is expanding; thus, it is important for laboratory professionals and ordering physicians to understand the strengths and limitations of both existing and emerging AD biomarker assays. In this review, we will provide an overview of the diagnosis of AD, discuss existing laboratory assays for AD and their recommended use, and examine the clinical performance of emerging AD biomarkers.

The field of AD biomarker discovery and assay development is rapidly evolving, with recent studies promising to improve both the diagnosis of symptomatic individuals and enrollment and monitoring of asymptomatic individuals in research studies. However, care must be taken to ensure proper use and interpretation of these assays. For clinical purposes, these assays are meant to aid in diagnosis but are not themselves diagnostic. For individuals without symptoms, AD biomarker tests are still only appropriate for research purposes. Additionally, there are analytical challenges that require careful attention, especially for longitudinal use of AD tests.