New genetic test aims to reduce sudden cardiac death

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 [ ABOVE, from left: Dr. Tim Malinowski, GHS; Dr. Trey Chandler, GHS; Michael Bolick; Dr. Ramon Brugada, Brugada Institute; Dr. Peter Tilkemeier, GHS ]

By Melinda Young, Contributing Writer

About 400,000 Americans die each year from sudden cardiac death (SCD), and now Greenville-based Selah Genomics and the Greenville Health System (GHS) have jointly launched a new cardiovascular genetic test that can identify those who are at risk for SCD.

Selah Genomics works in personalized medicine services and released a cancer genetic test last summer. The SCD test is its second product, and it’s called mySUDDinCode.

People susceptible to sudden cardiac death sometimes have no known medical conditions and can die within an hour of the first symptom. SCD can strike young and older people. The public sometimes hears about a young athlete dying suddenly while playing sports.

But it mainly impacts people who are middle-aged or older, said Dr. Ramón Brugada, a Spanish cardiologist and co-founder of the Brugada Institute. Brugada, who will review the test’s results, visited Greenville this past weekend to speak with cardiologists about the new test.

Brugada and his physician brothers, Dr. Pedro and Dr. Josep Brugada, identified the Brugada Syndrome, which is a genetic disease related to faulty electrical wiring in the heart. Brugada Syndrome is one cause of SCD.

Screening for SCD should not be as routine as a mammogram or colonoscopy, Brugada said.

“We don’t recommend it for everybody because genetic tests are very complex,” he said. “We always recommend the test in a clinical context.”

For example, a cardiologist might refer the test in a case where a patient has unexplained fainting or arrhythmia. Or if a person died suddenly and the autopsy shows the culprit to be SCD, the deceased person’s family might want to be tested for the genetic markers of SCD.

“People can use the genetic test to identify the disease and to know which family members also are at risk of the disease,” Brugada said.

The test’s cost out-of-pocket is $2,999. Insurance will cover some of the cost depending on the person’s condition and the reason for the test being ordered, said Michael Bolick, co-founder and chief executive officer of Selah Genomics.

When one member of a family has the test, the cost of testing the other members of the family can be reduced because the first person serves as an index case and the test is a little less complex, Bolick said.

What makes mySUDDinCode test better than current diagnostic tools for identifying SCD risk is its clarity from a physician’s perspective, Brugada said.

“The bottom line difference and biggest challenge of these genetic tests available is how to provide information to clinicians who are dealing with the results?” he said. “The difference between our test and the rest is we have the expertise in genetic results and we will provide guidelines for clinicians.”

The guidelines, which will come from Brugada – not Selah, will spell out what the results mean and how the clinician might handle the patient’s case.

GHS cardiologists are involved in developing the testing service and will make the SCD test available to GHS patients.

The Greenville Health Research Development Corporation, which is the GHS non-profit, technology transfer entity, focuses on partnerships, such as the one with Selah, and will share in revenues collected from the sale of mySUDDincode. Proceeds will be used to enhance related research and education at GHS, according to a news release.

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