Genetically personalized care for more than 100 patients with thoracic aortic aneurysms, a potentially lethal condition, was recently provided by researchers at the Aortic Institute at Yale, based on genomic testing. The work will also lead to the development of a “dictionary” of genes specific to the disease, according to the researchers.

For more than a decade, experts have known that thoracic aortic aneurysms, which are abnormal enlargements of the aorta in the chest area, run in families and are caused by specific genetic mutations.

Up until recently, thorough testing for these mutations has been expensive as well as impractical. To optimize testing, the Aortic Institute collaborated with Allen Bale, M.D. of Yale’s Department of Genetics to launch a program for testing whole genomes of patients with the condition.

The researchers applied a technology known as Whole Exome Sequencing (WES), over a period of three years, to over 100 individuals with these aneurysms. Lead author and cardiac surgeon John A. Elefteriades, M.D., director of the institute, said:

“To our knowledge, it’s the first widespread application of this technology to this disease."

They detected four mutations 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 Elefteriades.

The testing program also found 22 previously unknown gene variants that likely also contribute to the condition. With the test results, clinicians were able to provide treatment tailored to each patient’s genetic profile.

“Personalized aortic aneurysm care is now a reality,” Elefteriades noted. The personalized care ranged from more frequent imaging tests to preventive surgery for those most at risk. “Patients who have very dangerous mutations are getting immediate surgery."

Aneurysm disease is a highly inherited condition, affecting each generation, so the researchers offered testing to family members of patients, and found mutations in relatives with no clinical signs of disease.

John A. Elefteriades, MD, et al Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting The Annals of Thoracic Surgery doi:10.1016/j.athoracsur.2015.04.106

Image: Anders Persson, Wellcome Images.

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