Biomarkers of neurodegenerative disease are required for timely and accurate diagnosis, as well as the optimization of treatment strategies.1 Misdiagnosis can result in insufficient treatment and care, and unnecessary investigations owing to diagnostic ambiguity.1,6 Often, patients seek medical attention with mild cognitive impairment (MCI), an aetiologically heterogeneous condition, which occurs earlier in AD progression, and is characterized by cognitive impairment without functional impairment sufficient for a dementia diagnosis.1 Approximately 30–50% of patients with MCI have developing AD; however, without biomarkers, the underlying aetiology is difficult to determine.1 There is an unmet need for a screening modality that targets the biomarker pathophysiology of AD-modifying therapies.7 Currently emerging blood-based biomarkers provide the potential for cost-effective and multi-tiered approaches, which may be used in primary care.7 A multi-tiered diagnostic process that includes a blood test in primary care, would increase availability to disease-modifying therapies, and would exclude patients who do not need to undergo the expensive and invasive procedures.7

References:
1.Hansson O. Biomarkers for neurodegenerative diseases. Nat Med 2021; 27 (6): 954–963.

2.Atkinson AJJR, Colburn WA, DeGruttola VG, et al; Biomarkers Definitions Working Group. Biomarkers and surrogate endpoints: preferred definitions and conceptual framework. Clin Pharmacol Ther 2001; 69 (3): 89–95.

3.Fišar Z. Linking the amyloid, tau, and mitochondrial hypotheses of Alzheimer’s Disease and identifying promising drug targets. Biomolecules 2022; 12 (11): 1676.

4.Therriault J, Zimmer ER, Benedet AL, et al. Staging of Alzheimer’s disease: past, present, and future perspectives. Trends Mol Med 2022; 28 (9): 726–741.

5.Hansson O, Edelmayer RM, Boxer AL, et al. The Alzheimer’s Association appropriate use recommendations for blood biomarkers in Alzheimer’s disease. Alzheimers Dement 2022; 18 (12): 2669–2686.

6.Hunter CA, Kirson NY, Desai U, et al. Medical costs of Alzheimer’s disease misdiagnosis among US Medicare beneficiaries. Alzheimers Dement 2015; 11 (8): 887–895.

7.Hampel H, O’Bryant SE, Molinuevo JL, et al. Blood-based biomarkers for Alzheimer’s disease: mapping the road to the clinic. Nat Rev Neurol 2018. 14 (11): 639–652.