Why Genetic Testing Matters in Atrial Fibrillation (AF)

If you’re seeing a young patient with atrial fibrillation (AF) in your clinic, it may be time to think beyond stroke prevention. New research out of the Netherlands is shining light on how genetic testing could help flag those most at risk for developing cardiomyopathy and heart failure, especially in younger populations.

This isn’t just about ticking another diagnostic box. It’s about early detection, proactive care, and, ultimately, saving lives.

The Research: Genetic Clues in AF Patients

The study, published in JAMA Cardiology, analyzed data from over 44,000 patients with AF using two major longitudinal databases—the All of Us Research Program (U.S.) and the UK Biobank. The key finding?

Patients with AF were twice as likely to carry rare, inherited genetic variants associated with cardiomyopathy. In patients with early-onset AF (diagnosed before age 45), this risk jumped to five times higher.

What’s more, individuals carrying these gene variants had a 50–70% higher risk of developing incident heart failure or cardiomyopathy after their AF diagnosis, independent of traditional risk factors or polygenic risk scores.

“It’s not a benign disease where you only have to treat the ischemic stroke risk,” said Dr. Sean J. Jurgens, co-author and assistant professor at Amsterdam UMC.

What This Means for Clinical Practice

This study advocates for a shift in how we perceive AF, particularly in young adults. It’s no longer just about symptom control or anticoagulation. Genetic testing can offer powerful prognostic insights.

Patients with pathogenic variants are the ones clinicians “really need to look after,” says Dr. Jurgens, because they’re far more likely to develop progressive heart failure.

Identifying these patients early could enable closer monitoring, preventive strategies, and potentially targeted therapies in the future.

Barriers to Widespread Genetic Testing

Despite its promise, genetic testing in cardiology remains a non-routine practice. Cost, lack of insurance coverage, limited access to genetic counselors, and regional disparities—especially in the U.S.—are significant hurdles.

But there’s hope. Technological advances are driving costs down, and the study team was able to narrow the gene panel from over 100 to just 26 variants, thereby improving both cost efficiency and clinical applicability.

Expert Endorsement: A Call for Wider Integration

An editorial by Olivia G. Anderson, MS, CGC, of the University of Pennsylvania, praised the study’s “methodological rigor” and emphasized how it confirms AF as a potential early manifestation of genetic cardiomyopathy.

She and her colleagues also highlighted the urgent need for more genetic counselors in cardiology and the creation of specialized cardiovascular genetics clinics.

“This work makes a strong case for incorporating genetic testing into the evaluation of patients with AF, especially those under 45.”

Final Thoughts

The future of cardiology lies at the intersection of genetics and personalized care. For those pursuing research or clinical training in internal medicine, cardiology, or electrophysiology, this study exemplifies how intelligent data and early genetic insights can influence patient outcomes.

At MD Research, we’re here to keep you updated on the latest breakthroughs and help you integrate research into your journey to residency success.

Keywords: genetic testing, atrial fibrillation, AF, early-onset AF, cardiomyopathy, heart failure, precision medicine, cardiovascular genetics, MD research, USMLE, medical residency, polygenic risk, genomic risk prediction
Reference: https://www.medscape.com/viewarticle/genetic-tests-patients-atrial-fibrillation-may-flag-those-2025a1000est