With this approach to personalized medicine, the possibilities become endless. For example, doctors have at their disposal today good medications that work in the treatment of cardiomyopathy, at least in adults, who have been diagnosed with the condition through traditional means. The Seidmans want to see if those same treatments work in children who test genetically positive for the condition but do not yet show any clinical signs of it.

Thus, the Seidmans are teaming up with clinical researchers, including Carolyn Ho, M.D., at Brigham and Women’s Hospital, to determine if drugs that affect calcium transport slow development of the disease in children with mutations that cause hypertrophic cardiomyopathy. 

While results from those studies will not emerge for several years, the fact that a trial is even being done attests to the success of HPCGG’s infrastructure. It is helping knowledge flow bench-to-bedside-to-bench. And researchers imagine a future not limited to genetic tests alone, but also including better treatments that match the individual patient’s genetic proclivities.

The challenge now is to disseminate knowledge about the tests’ existence to cardiologists worldwide. Seidman says it is no easy task. A recent survey of members of the International Society of Cardiomyopathy and Heart Failure showed only 27 percent knew about the HPCGG’s novel diagnostic. But that fact is likely to change as personalized medicine advances and clinicians begin to embrace its potential.

“The discoveries that we are making today have improved diagnoses and empowered therapeutics,” Kricket Seidman sums. “But they also are driving future discoveries that will further improve diagnosis and personalize therapies.”