"Combining all three types of genetic testing Currently, genetic testing is divided into three distinct approaches: Monogenic testing: Detects rare mutations in a single gene, akin to spotting a typo in one word Polygenic testing: Assesses multiple common gene variants to understand overall risk, like analyzing the tone of a book chapter Genome sequencing: Reads the entire genetic code, similar to reading a book cover to cover"
""It's a very cool approach in which we are combining rare gene variants with common gene variants and then adding in non-coding genome information. To our knowledge, no one has used this comprehensive approach before, so it's really a roadmap of how to do that," said co-corresponding author Elizabeth McNally, MD, PhD, the Elizabeth J. Ward Professor of Genetic Medicine, director of the Center for Genetic Medicine, and a professor of Medicine in the Division of Cardiology and of Biochemistry and Molecular Genetics."
A more precise genetic risk score was developed to determine likelihood of arrhythmia, including atrial fibrillation and sudden cardiac death. The score combines rare monogenic variants, common polygenic variants, and non-coding genome information to improve predictive accuracy. Research involving 1,119 participants demonstrated enhanced heart disease risk prediction and potential to identify risk before symptom onset. The approach provides a comprehensive framework for genetic testing that can be applied to other complex, genetically influenced diseases such as cancer, Parkinson's disease, and autism. The combined framework supports development of targeted therapies tailored to an individual's full genetic profile and earlier clinical intervention.
Read at News Center
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