Perneczky R, Quevenco FC, Hendrix J, Epelbaum S, Teunissen C, van der Flier WM, Suárez-Calvet M, Shi J, Mielke MM, Iwatsubo T, Palmqvist S, Hansson O
Introduction: Alzheimer's disease (AD) diagnosis has been based largely on clinical symptoms, despite their limited sensitivity and specificity. Biomarker use was proposed to support a more accurate and timely diagnosis. However, neuroimaging or cerebrospinal fluid (CSF) is rarely used in primary care due to their perceived invasiveness, cost, and need for appropriate infrastructure. Blood-based biomarkers (BBMs) could represent an economical, minimally invasive alternative, but barriers exist to a seamless translation to the clinic.
Methods: Ten international experienced AD clinicians and biomarker experts participated in a diagnostic roundtable to discuss the implementation of BBMs for diagnosing early symptomatic AD.
Results: The participants proposed an optimal AD diagnostic pathway and highlighted three main gaps to implementing BBMs for early symptomatic AD diagnosis: limited real-world data, resource gaps, and system barriers.
Discussion: Although BBMs could streamline the AD diagnostic pathway, further real-world evidence and collaboration among multiple stakeholders are needed.
Highlights: Early symptomatic Alzheimer's disease (AD) diagnosis improves treatment strategy and lowers costs.Currently available biomarkers are not widely used across all clinical settings.Blood-based biomarkers (BBMs) could be a cost-effective, minimally invasive alternative.BBMs could accelerate an accurate AD diagnosis.There are barriers to the inclusion of BBMs in clinical practice.
Keywords: Alzheimer's disease; barriers; blood‐based biomarkers; diagnosis; diagnostic pathway; guidelines; mild cognitive impairment; population screening.
Perneczky R, Quevenco FC, Hendrix J, Epelbaum S, Teunissen C, van der Flier WM, Suárez-Calvet M, Shi J, Mielke MM, Iwatsubo T, Palmqvist S, Hansson O. How can Alzheimer's disease blood-based biomarkers reach clinical practice? Alzheimers Dement (Amst). 2025 Nov 2;17(4):e70207. doi: 10.1002/dad2.70207. PMID: 41189609; PMCID: PMC12580295.