Publications
Genetic Testing in early-onset atrial fibrillation – A Call to Action
In this international collaboration, Dr. Ben Shoemaker and colleagues outline the evidence that identifying genetic variants in patients with AFib can improve care and increase detection of additional risks, such as other life-threatening arrhythmias or heart failure.
The authors emphasize barriers to implementing widespread genetic testing, such as cost, the lack of standardized guidelines for what constitutes “early-onset” atrial fibrillation, and the need for a focus on the experiences of diverse populations. This article is a call to action aiming to inspire international partnerships to expand access to precision-medicine care for AFib patients.
Currently In-Press
Mortality Among Patients with Early-Onset Atrial Fibrillation and Rare Variants in Cardiomyopathy and Arrhythmia Genes
This study compared mortality rates of people with early-onset AFib and disease-associated rare variants in cardiomyopathy and arrhythmia genes to those who were not found to have rare variants. The AFib research team found that those with rare variants had a 50% higher chance of dying during an ~10 year follow-up period than those without variants. Patients with rare variants who were diagnosed with AFib younger had a relatively higher risk of mortality.
These findings suggest that genetic testing may provide important prognostic information for patients with early-onset AFib.
Published May, 2022, JAMA Cardiol. View on PubMed.
Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes
In this study, the Vanderbilt AFib research team evaluates the chance that someone with early-onset atrial fibrillation will have a pathogenic rare variant in an arrhythmia or cardiomyopathy associated gene. The authors also wanted to improve understanding of what the age range should be for genetic testing for AFib.
In a group of 1293 participants, 10.1% had a rare, disease-associated genetic variant. The likelihood of a disease-associated variant was highest in participants with AFib diagnosed before 30 years (16.8%) and dropped off significantly when diagnosis was after age 60. Most of the rare variants were found in cardiomyopathy rather than arrhythmia genes. These results suggest the use of genetic testing in patients diagnosed with AFib before age 60.
Published Sept. 2021, JAMA Cardiol. View on PubMed.
How Will Genetics Inform the Clinical Care of Atrial Fibrillation?
This collaboration between cardiogenetic experts at Vanderbilt and Stanford pitches that researchers are nearing a point where guidelines might benefit from including genetic testing in the recommendations for patients with atrial fibrillation.
As genetic testing becomes cheaper, there is potential to enhance patient care and identify high-risk patients for increased monitoring or preventive treatments. Genetic insights might also personalize treatment or inspire new therapies.
Two years after this was published, the first international guideline was published recommending genetic testing for some people with atrial fibrillation.
Published June 2020, CircRes. View on PubMed.