Genomics could help 1 in 4 adults prevent stroke

One in four adults over the age of 25 will have a stroke in a lifetime, according to the Global Stroke Fact Sheet 2025. Awareness remains key for early intervention and prevention of cardiovascular disease. Advances in genomic science are now offering a new lens to identify these risks early—sometimes decades before a stroke occurs.

Every year, World Stroke Day reminds us that one of the world’s leading causes of death and disability can often be prevented. Many of the biological risks accumulate long before symptoms appear. Recent studies show that polygenic risk scores (PRS) could transform how we predict who is most vulnerable and guide preventive care before it’s too late.

Multi-omics for Accurate Risk Prediction

A 2024 study published in the International Journal of Cardiology explored how combining genetic scores for ischemic stroke and its related conditions—such as hypertension, atrial fibrillation, and type 2 diabetes—can significantly sharpen prediction accuracy. Rather than focusing on one gene, the research team built what they called “combined polygenic scores,” capturing the additive effects of thousands of genetic variants. Their model outperformed single-trait scores, marking a shift toward a more integrated view of cardiovascular risk.

These findings illustrate how genomic data can move from research to real-world prevention. People inherit countless small genetic variations that, together, shape susceptibility to diseases like stroke. PRS translates this complex information into a single measurable number—a score indicating whether an individual’s inherited risk sits higher or lower than average.

Another study, published in Human Genetics (2024), went one step further by integrating transcriptomic data—how genes are expressed in cells—with polygenic risk. This multi-omics framework, known as a sum transcriptome-polygenic risk score (STPRS), boosted the ability to identify those likely to develop ischemic stroke. The findings from the UK Biobank and GIGASTROKE consortium underline that combining genetic variation with molecular expression data may soon enable even finer risk stratification.

Genomics Support Early Assessment

For clinicians, instead of relying only on blood pressure or cholesterol levels, genomic scoring allows risk assessment before those markers even shift.

As cardiovascular expert Professor Feng Yingqing of Guangdong Provincial People's Hospital emphasized in an earlier interview with BGI Genomics, “Most strokes are preventable if we act on the warning signs early — but the challenge has always been knowing who to screen and when.”

Watch full interview with Prof. Feng Yingqing here.

By identifying individuals with high polygenic risk, healthcare systems can focus lifestyle interventions, monitoring, and preventive therapies on those who need them most. In population health terms, the promise lies in prevention, not reaction.

Genetic Testing Reveals Inherited Risks

This precision-driven approach also intersects with broader advances in sequencing technology. While PRS draws from genome-wide association data, whole exome sequencing (WES) delves deeper—detecting rare but impactful variants that may not appear in common genetic panels. Variants in genes like APOE, for example, can elevate cardiovascular and neurovascular risk long before symptoms manifest. Through solutions like BGI Genomics XOME™ Clinical Whole Exome Sequencing (cWES), individuals can detect such variants early. Combining PRS-based risk assessment with actionable genetic insights can offer personalized prevention strategies.

Early screening and tailored prevention could redefine how we manage stroke risk worldwide. For countries facing aging populations and increasing incidence of lifestyle-related diseases, the combination of PRS and advanced sequencing represents a turning point—from generalized guidelines to precision prevention.

Genomic risk scoring for stroke is not about predicting fate but enabling foresight. Knowing one’s inherited risk is an invitation to act—through monitoring, treatment, and healthier choices. As science continues to uncover the layers of genetic influence, the ultimate goal remains clear: fewer lives lost, fewer families affected, and a future where stroke prevention begins in the genome.

About BGI Genomics XOME™ Clinical Whole Exome Sequencing

XOME™ Clinical Whole Exome Sequencing (cWES), examines the DNA sequence of over 180,000 exons across 22,000 genes, screening for more than 4000 monogenic diseases. It accurately provides a straightforward and cost-effective approach for identifying the genetic variants responsible for a wide range of genetic disorders, thereby assisting clinical diagnosis.

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.