Researchers at Northwestern Medicine have developed a more accurate way to predict the risk of arrhythmias and sudden cardiac death. The approach combines three types of genetic testing: monogenic testing, which looks for rare mutations in a single gene; polygenic testing, which evaluates the combined effect of many common genetic variants; and whole-genome sequencing, which examines the non-coding regions of DNA. By integrating these three methods, the team created a comprehensive view of genetic risk, allowing them to identify individuals at high risk more reliably than existing tools.
In a study of over 1,100 participants, including those with arrhythmias and healthy controls, researchers validated the presence of arrhythmias—sometimes using device data—before generating risk scores. This approach could help clinicians identify high-risk patients before symptoms appear and guide therapies tailored to each patient’s unique genetic profile. Despite the promise of genetic testing, it remains underutilized, with only about one to five percent of eligible individuals currently being tested. A key challenge is that many healthcare providers are not trained in interpreting or applying these complex genetic risk scores.
The researchers also note that this combined testing framework has potential applications beyond cardiac conditions, potentially extending to complex diseases such as cancer and Parkinson’s disease. By providing a more complete understanding of genetic risk, this approach could change how preventive care is approached, helping identify and protect patients before life-threatening events occur.
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Source: Feinberg School of Medicine