Atrial fibrillation (AF) is a common heart condition affecting over half a million people in the Netherlands, increasing the risk of heart failure and stroke. Early identification of high-risk individuals is crucial for timely treatment. Researchers have developed an improved polygenic risk score (PRS) using artificial intelligence and genetic data from multiple ethnic backgrounds, aiming to reduce healthcare inequality and enhance risk prediction.

Genetic Risk in AF

AF has a strong genetic component, yet many patients and doctors are unaware of its hereditary nature. "Our findings highlight the important contribution of genetics to atrial fibrillation risk," says Dr. Sean Jurgens. The PRS calculates an individual’s inherited risk based on many DNA variations, but previous scores were only developed for Europeans, leaving other ancestry groups underserved.

Diverse Data, Better Outcomes

The new PRS was developed using genetic information from European, Latin American, African, South Asian, and East Asian populations. "By including diverse genetic backgrounds, we significantly improved risk prediction for everyone," explains Poeya Haydarlou. Notably, compared to previous scores, the novel score markedly improved risk prediction accuracy for Africans, Latin Americans and South Asians. For Europeans and East-Asians, the score could identify ~10% of people with an over fourfold increased risk of AF.

Reducing Health Inequality

This approach could help recognize high-risk individuals earlier and more fairly, enabling targeted screening and intensive follow-up. "Genetic diversity is key to reducing inequality in healthcare," notes Dr. Sean Jurgens. He adds, "Since genetics is still heavily biased towards European ancestry, our method ensures that the available data serve people from all backgrounds more equally." Nevertheless, Jurgens adds: “Prediction remains best in certain groups, Europeans and East-Asians, and therefore additional work is needed to reduce disparities further”. 

Next Steps in Practice

A logical next consideration is implementing PRS in clinical settings. In the United States, they are already making PRS tests available to clinicians and patients. "Since genetic risk is largely fixed at conception, PRS may lead to early identification and personalized care for high risk patients," says Poeya Haydarlou, “but additional work is still needed to demonstrate how and where PRS can change clinical decision-making or preventive counseling”.

These results were published in Nature Communications. The research was funded by a Dekker Grant from the Dutch Heart Foundation.