Genetic Scores Could Revolutionize Heart Disease Prevention, Study Finds

New research reveals combining genetic risk scores with standard assessments significantly improves heart disease prediction, potentially preventing thousands of events annually.

9 days ago

Genetic Scores Could Revolutionize Heart Disease Prevention, Study Finds

London, UK – November 10, 2025 – A groundbreaking study presented this week at the American Heart Association Conference suggests that incorporating polygenic risk scores (PRS) into standard heart disease assessments could dramatically improve prevention efforts and avert tens of thousands of cardiovascular events each year. The research, led by Genomics Plc, demonstrates that adding a genetic component to existing risk calculations identifies individuals previously considered at ‘intermediate’ risk who may actually be at significantly higher risk of developing heart disease.

For decades, doctors have relied on factors like cholesterol levels, blood pressure, age, and lifestyle to predict a patient's risk of cardiovascular disease. However, these traditional clinical risk tools (CRTs) often miss crucial genetic predispositions. The new study highlights a gap in current preventative strategies, with researchers estimating that roughly 8% of individuals aged 40-69 are reclassified as higher risk when PRS is integrated with the established PREVENT tool.

“Current methods aren’t capturing the whole picture,” explained one researcher involved in the study. “We’re leaving a significant number of people vulnerable who might benefit from earlier, more aggressive intervention.”

How Do Polygenic Risk Scores Work?

PRS aren't a single gene diagnosis. Instead, they analyze thousands of common genetic variations – each contributing a tiny amount to overall risk. By combining the effects of these variations, scientists can create a score reflecting an individual’s inherited predisposition to heart disease. This score is then combined with traditional risk factors to provide a more comprehensive and accurate assessment.

“Think of it like adding another piece to the puzzle,” said a cardiologist not directly involved in the study. “Traditional risk factors tell us about current health and lifestyle, while PRS provides insight into underlying genetic vulnerabilities.”

Improving Risk Prediction with PREVENT
The research focused on enhancing the PREVENT tool, a widely used assessment for cardiovascular risk. By incorporating PRS, researchers found a significant improvement in the tool’s accuracy, particularly in identifying individuals who would benefit most from preventative measures like statin therapy.

“The key finding is that PRS helps refine risk stratification,” explained one researcher. “It allows us to identify those ‘borderline’ cases where standard assessments are uncertain. For these individuals, knowing their genetic predisposition can inform crucial treatment decisions.”

Importantly, the study demonstrated that statins – a common cholesterol-lowering medication – were even more effective in individuals identified as high-risk by the PRS-enhanced PREVENT tool, suggesting that personalized prevention strategies can maximize treatment benefits.

NHS Trial Demonstrates Real-World Applicability

The study's findings are bolstered by a real-world trial conducted by Genomics Plc in partnership with the UK’s National Health Service (NHS). The HEART trial successfully integrated PRS into routine clinical practice, demonstrating the feasibility and practicality of implementing this technology within a large-scale healthcare system.

“The NHS trial was critical,” said a source within Genomics Plc. “It showed that PRS isn’t just a theoretical concept, but a viable tool that can be seamlessly integrated into existing healthcare workflows.”

The trial involved training healthcare professionals to interpret PRS results and incorporating genetic information into patient records. While full results are still being analyzed, early indications suggest that the intervention led to earlier diagnoses and more effective preventative care.

Challenges and Competition in the Emerging Field

Despite the promising results, several challenges remain before PRS-based risk assessment becomes widespread. Clinical validation across diverse populations is crucial to ensure its accuracy and effectiveness in all ethnicities. Regulatory hurdles and reimbursement issues also need to be addressed.

Furthermore, the field of PRS is becoming increasingly competitive, with numerous companies and academic institutions vying for leadership. Several biotech firms are developing their own PRS technologies, and large genetic testing companies are beginning to incorporate PRS into their offerings. However, experts emphasize the importance of rigorous clinical validation and transparent reporting of results.

“It’s an exciting time for precision medicine, but we need to proceed cautiously,” said a cardiologist not affiliated with the study. “We need to ensure that PRS tests are accurate, reliable, and used responsibly.”

Looking Ahead: The Future of Heart Disease Prevention
The study’s findings have significant implications for the future of heart disease prevention. By combining genetic insights with traditional risk factors, healthcare professionals can move closer to a truly personalized approach to preventative care. This could lead to earlier diagnoses, more effective treatments, and ultimately, a reduction in the global burden of cardiovascular disease.

“We’re entering a new era of preventative medicine,” said a researcher involved in the study. “The potential to prevent thousands of heart attacks and strokes is within our reach.”

While more research is needed, the current findings offer a compelling case for integrating PRS into routine clinical practice. As the technology matures and becomes more accessible, it could revolutionize the way we approach heart disease prevention, offering hope for a healthier future.

📝 This article is still being updated

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