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Genetic Insights Halt Dementia Before It Starts

2025-07-21

Every three seconds, someone in the world develops dementia—a condition expected to nearly double in prevalence every 20 years, reaching 78 million cases by 2030. This rising tide poses profound medical, social, and economic challenges.

image3550424565.pngSpanish photographer Mike Marchetti created a poignant portrait series to raise awareness about AD care.

With the advancement of high-throughput sequencing technologies and precision medicine, researchers are beginning to uncover the complex biological mechanisms of dementia. These breakthroughs are paving the way for earlier detection, personalized interventions, and more effective strategies to slow disease progression.

The Global Burden of Dementia

image3427910613.png Source: Global status report on the public health response to dementia

The burden of dementia is rising rapidly. According to the WHO Global Status Report on the Public Health Response to Dementia, this trend is particularly evident in aging populations across China, India, and neighboring countries in South Asia and the Western Pacific. Currently, the Western Pacific Region has the highest number of people living with dementia at approximately 20.1 million, followed by the European Region with 14.1 million, and the Americas with 10.3 million.

As population ageing accelerates—particularly in low- and middle-income countries—these regions are projected to account for the majority of new dementia cases by 2050. Advances in education and improved access to care for modifiable risks (such as hypertension and diabetes) offer promise, but widening inequalities may hinder the reach and effectiveness of preventive efforts.


image1541020280.pngSource: Global status report on the public health response to dementia


Globally, over 10 million new cases of dementia are recorded each year. The economic impact is staggering: the global cost was estimated at US$818 billion in 2015 (1.09% of global GDP), has now exceeded US$1.3 trillion, and is projected to reach US$2.8 trillion by 2030. These trends underscore an urgent need to prioritize prevention, early detection, and innovative public health strategies.


Early Detection to Slow Progression

Early detection of Alzheimer’s disease (AD) and other types of dementia is essential to slowing progression and enhancing quality of life. While these conditions remain incurable, recognizing the early warning signs—such as memory loss, impaired judgment, or difficulty with daily tasks—can lead to timely diagnosis and more effective care.

Dementia also shows a gradual younger trend. Institutions like Singapore’s National Neuroscience Institute have reported dementia cases as early as age 35, especially in forms like frontotemporal dementia.

Early intervention creates a critical window for access to medications, cognitive therapies, lifestyle modifications, and support services. This help individuals maintain independence and ease the burden on caregivers. More importantly, it supports personalized treatment strategies informed by an individual’s medical history, genetics, and symptom profile—hallmarks of a precision medicine approach. Although dementia is progressive and irreversible, early diagnosis empowers individuals and families to prepare, adapt, and plan ahead.


Intervening Earlier from Gene Level

While traditional diagnostic tools like the Clock Drawing Test (CDT) are useful for identifying cognitive decline after symptoms emerge, the real frontier in Alzheimer’s research lies in intervening before any signs appear. Thanks to rapid progress in genomics, transcriptomics, and molecular diagnostics, that future is no longer distant.

A study highlighted the potential of a blood-based biomarker test called APS2 (amyloid probability score 2). It was published in the Journal of the American Medical Association in 2024. Among 1,213 patients in primary and secondary care, APS2 showed a diagnostic accuracy between 88% and 92%. In comparison, dementia specialists had an accuracy of 73%, and primary care physicians 61%. Although not yet approved for screening before symptoms appear, APS2 shows strong potential to improve early diagnosis and expand access to testing, especially in routine healthcare settings.

This June, researchers at BGI Genomics’ Institute of Intelligent Medical Research (IIMR) uncovered critical biomarkers and AD-linked neurons. This research analysed over 1,600 single-cell transcriptomes across disease stages. Their work zeroed in on the entorhinal cortex–hippocampus (EC-HPC) circuit, revealing new genetic and cellular insights into the disease’s earliest mechanisms. These findings pave the way for a future where intervention doesn’t wait for memory loss to begin.


To fully realize the promise of dementia prevention, early diagnosis must be accessible to those who need it most. Detecting the disease sooner allows precision medicine to ease the burden on families and health systems. Now is the time to reshape the future of dementia care with greater accuracy, empathy, and lasting impact.


About BGI Genomics

BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.

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