A high-tech machine called a Sequenom MassARRAY spectrometer visualizes the genetic patterns of affected and normal individuals.

One step further, “genetics allows you to make not only an early diagnosis,” Kricket Seidman says, “but a definitive diagnosis.”

An echocardiogram, while a powerful technique, sometimes is not conclusive. By contrast, if a patient tests positive with the HPCGG genetic test, he or she is virtually certain to develop cardiomyopathy.

When and how severely? The HPCGG test can answer that as well: the kind of mutation influences the severity of a patient’s disease. More mild mutations may require only that a patient stay under close watch by a physician and forego participation in competitive athletics that would otherwise overstrain the heart muscle. Other mutations increase the risk for sudden death. Identification of such high-risk mutations calls for intensive evaluation and possibly an implanted defibrillator.

This level of sophistication, the matching of mutation to disease risk or severity, is new to medicine, in general, and to the field of genetics, more specifically.

“Right now, we diagnose the disease,” Seidman says. “Personalized medicine means that we are also going to diagnose the disease risk.”