#United States #Genomics #New Orleans #CVD #Polygenic Risk Scores

Introduction

In a groundbreaking study presented at the American Heart Association Conference 2025, a team from Genomics has demonstrated that incorporating polygenic risk scores (PRS) into cardiovascular disease risk assessments substantially enhances prediction accuracy. This advancement has far-reaching implications for better identifying high-risk patients and improving preventative healthcare practices.

Understanding Cardiovascular Disease (CVD)

Cardiovascular disease remains the leading cause of death in the United States, taking over 900,000 lives in 2023 alone, which translates to approximately one in three deaths. Amidst these staggering statistics, it is alarming that over three million Americans aged 40 to 70 are currently considered high-risk for CVD, yet remain undetected due to traditional risk assessment methods overlooking genetic factors.

The Role of Polygenic Risk Scores (PRS)

Genetics play a crucial role in determining individual health risks. Despite this, most clinical risk calculators do not incorporate genetic data into their assessments. The latest research shows that integrating PRS into the PREVENT tool can effectively identify individuals at risk of heart disease by using their genetic background as an additional metric. As someone ages, their genetic risk may not only elevate their chances of being diagnosed with CVD but can also predict the effectiveness of treatments such as statin therapy.

Statins have been proven to reduce cardiovascular events significantly, with studies indicating a drop in events by about 25% among those with coronary heart disease. The new findings suggest that individuals with high polygenic risk scores benefit even more from these medications, highlighting the necessity for a paradigm shift in how we manage cardiovascular health based on genetic predispositions.

Findings from the Study

The study's conclusions are compelling. By analyzing data from over three million adult patients, researchers assert that the integration of PRS with the PREVENT tool increases detection rates of those who may develop atherosclerotic cardiovascular disease (ASCVD). The Net Reclassification Improvement (NRI) metric indicated a notable 6% enhancement in prediction capabilities when the genetic factor was included. Notably, individuals previously classified as low risk had near double the likelihood of developing ASCVD compared to peers with lower genetic risk.

Approximately 8% of people aged 40-69 saw their risk classification rise with the incorporation of the IRT model, stressing that they would not have been recognized as high-risk by traditional measures. This new approach could transform how healthcare practitioners approach preventative care, utilizing genetic data to save lives.

Impact on Public Health Policy

The staggering potential benefits of this approach cannot be overstated. It is estimated that proper identification and treatment of these genetically predisposed individuals could avert around 100,000 heart attacks, strokes, and fatalities over the next decade. Such figures reinforce the call for integrating genetic assessments into preventive healthcare protocols across the nation.

Professor Sir Peter Donnelly, CEO of Genomics, emphasized the study’s findings, stating, "This research moves us closer to a future where genetic information is routinely utilized in preventative care, ultimately improving outcomes for cardiovascular disease and various health conditions."

The adoption of precision medicine driven by genetic insights is rapidly gaining traction. The NHS, having previously conducted a related HEART clinical trial with Genomics, has committed to rolling out widespread prevention services based on polygenic risk assessments across the UK.

Conclusion

The promising results of this study signify a turning point in cardiovascular disease prevention, highlighting the critical role genetics could play in improving patient outcomes. As healthcare learns to adapt and incorporate comprehensive genetic data into risk assessments, the potential for significantly reducing CVD-related incidents and mortality comes into clearer focus. The path ahead involves a combination of advanced technology, proactive healthcare practices, and informed public policy, steering towards a healthier future for individuals at risk of cardiovascular diseases.

For further details about Genomics and their continued research efforts, visit Genomics website.