Broadening Biomarker Validation for Alzheimer’s Disease Diagnosis Globally

Traditional approaches for detecting Alzheimer’s disease (AD) that rely on examining the brain for amyloid plaques have limitations in accuracy and early detection. Although the industry has drastically evolved, these methods still require complex sample handling, repeated collections, and offer limited accessibility, particularly in remote or resource-limited settings.

A new wave of research in this space is now largely focused on measuring blood-based biomarkers to help accelerate early detection of AD and improve accessibility by enabling faster and less invasive diagnostic options. While blood-based biomarkers like p-tau217, p-tau181, Aβ42/40 ratios, and NfL are increasingly validated in the U.S. and Europe, validation is still lagging in other parts of the world such as Latin America and Australia. Fortunately, new research published in Nature represents a significant step forward.

Reducing the underdiagnosis of AD globally

AD, particularly in its earlier stages when treatment can be most effective, is significantly underdiagnosed in Latin American countries like Brazil. By the time most patients are diagnosed, they’ve already missed the crucial window for earlier intervention and may no longer qualify for promising clinical trials or treatments. While blood-based biomarker tests for AD are still mainly used for research purposes, they are slowly transitioning into limited clinical use to support diagnostic decision making in the U.S. and Europe.

Though clinical use of blood-biomarkers remains limited across the rest of the world, new research represents a pivotal step forward toward integrating biomarker testing into clinical practice in Brazil and potentially other Latin American countries. The research led to the local implementation of two blood-based biomarker testing kits that hold great potential to reduce the underdiagnosis of AD in Brazil and provide an option that is less expensive than current alternatives.

In other parts of the world such as Australia, NSW Health Pathology, the largest public pathology service in the country, is at the forefront of broadening adoption of blood-based biomarkers tests performing more than 100,000 tests each day supporting clinical and scientific investigations. Demonstrating the clinical utility and cost-effectiveness of innovative blood-based biomarker tests can help pave the way for making timely AD diagnosis and proactive care the norm. 

A significant step toward broadening validation of biomarkers 

Low and middle-income countries tend to have poorer AD outcomes due to a variety of factors including limited access to diagnostic tools like PET imaging or CSF analysis. Researchers found that, by using an innovative blood test for the measurement of p-tau217 alone or combined as a ratio with Aβ42/40, researchers were able to identify AD pathology among 145 elderly Brazilians with nearly 95% diagnostic accuracy in predicting disease progression. 

The study underscores how implementing blood-based biomarker tests can lead to improved patient outcomes, as blood tests can enable earlier detection, expanding access to treatments that patients are only eligible for in earlier stages of disease progression. Particularly in settings where traditional diagnostic methods are limited, blood-based biomarker tests provide a more cost-effective and accessible option, that is also less invasive and faster in delivering results – especially in under-resourced regions. As ongoing research continues to validate the accuracy of blood-based biomarker tests, the industry is moving closer to incorporating blood biomarker testing into routine screening in clinical settings.

Opportunities ahead to accelerate adoption of blood biomarkers 

Research continues to help support the clinical utility of blood-based testing, including the use of dried blood spot tests and multiplex tests that can measure multiple biomarkers simultaneously. Further, emerging findings provide new guidance for how clinicians can interpret and action the results. While many blood-based tests are still for research use only, leaders in this space are already looking at how dried blood spot analysis could transform patient testing as the next breakthrough in clinical treatment. 

Additionally, multiplex tests hold great promise in streamlining the clinical decision-making process by providing more data from less sample and reducing manual workflow steps. Though rates of Alzheimer’s disease are at an all-time high globally, we are on the cusp of embracing innovative blood biomarker tests in clinical settings and ushering in the next wave of treatment breakthroughs for this disease.

Photo: Andreus, Getty Images

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