Clients in the News – Washington University is Gene Testing for Heart Diseases

A mutation, highlighted with a red letter in the genetic code shown above, can alter the heartbeat in dangerous ways. A new panel offered by Genomic Pathology Services can test up to 69 genes at once for changes that affect heart function. (WUSTL/GPS)

Washington University School of Medicine in St. Louis now offers genetic testing to help diagnose and treat patients with heart disorders that can lead to sudden death.

The new test, offered though the school’s Genomics and Pathology Services (GPS) and developed in collaboration with Washington University cardiologists, analyzes genes linked to arrhythmias and cardiomyopathies. Physicians who treat patients with indications of these heart conditions can submit a blood sample for gene sequencing. In two to three weeks, they receive a report from GPS describing any mutations identified in the patient’s DNA that may contribute to disease and affect response to treatment.

“Results from this test can help us refine diagnoses and allow us to personalize management and treatment of our patients,” said Phillip Cuculich, assistant professor of medicine and one of the cardiologists involved in the development of the test. “The results also may help family members of affected patients decide if they want to be tested to see if they are at risk for developing the disease.”

Called the Washington University CardioGene Set, the new test builds on another first-of-its-kind test offered by GPS that analyzes multiple genes in tumors. Seeking genomic clues to personalize cancer diagnosis and treatment, oncologists nationwide have been sending tissue samples to GPS for this test for two years. The cancer gene set recently expanded from 25 genes to 40 genes.

“The CardioGene Set is the next major step in our effort to bring the promise of human genomics to the clinic,” said Karen Seibert, director of GPS. “With rapid and sensitive gene-sequencing technology, we check dozens of heart disease genes simultaneously to cost-effectively identify the likely genetic cause.”

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