Whole Exome Sequencing Permits “Personalized Medicine” Approach to Thoracic Aortic Aneurysms

Researchers at the Aortic Institute at Yale-New Haven, Yale University School of Medicine have tested the genomes of more than 100 patients with thoracic aortic aneurysms, a potentially lethal condition, and provided genetically personalized care. Their work will also lead to the development of a "dictionary" of genes specific to the disease, according to researchers. The study was published online on July 15, 2015 in The Annals of Thoracic Surgery. The article is titled “Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting.” Experts have known for more than a decade that thoracic aortic aneurysms -- abnormal enlargements of the aorta in the chest area –tend to run in families and be caused by specific genetic mutations. Until recently, comprehensive testing for these mutations has been both expensive and impractical. To streamline testing, the Aortic Institute collaborated with Allen Bale, M.D., of Yale's Department of Genetics to launch a program to test whole genomes of patients with the condition. Over a period of three years, the researchers applied a technology known as whole exome sequencing (WES) to more than 100 individuals with these aneurysms. This technology sequences that part (~1%) of the human genome that codes for proteins. "To our knowledge, it's the first widespread application of this technology to this disease," said lead author and cardiac surgeon John A. Elefteriades, M.D., Director of the Aortic Institute. The researchers detected four mutations already known to cause thoracic aortic aneurysms. "The key findings are that this technology can be applied to this disease and it identifies a lot of patients with genetic mutations," said Dr. Elefteriades.
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