Finally, some people may fear that the HCM test—or any genetic test—could publicly label them as vulnerable or diseased, leading to genetic discrimination from health- and life-insurance companies, or even employers. That's one reason, Christine Seidman suspects, why some who've taken the HCM test since last year have done so by mail—downloading test forms from the Internet and then quietly sending in blood samples with payments—as opposed to working with a cardiologist, who would keep permanent medical records. Still, Kucherlapati notes that most test takers are referred by physicians. So far, he adds, at least several hundred people have taken the HCM test.

Despite the challenges, many other medical scientists consider the HCM test—the only such test currently available—to be a step forward. "This test is an important advance, and the Seidmans deserve credit for creating something needed and new," says Barry J. Maron, director of the Hypertrophic Cardiomyopathy Center at the Minneapolis Heart Institute Foundation. "As is the case with any test, there are limits—particularly cost and false negatives—that must be overcome. But now we can at least aspire to having an HCM diagnosis in a timely fashion."

Borsari, whose family has long participated in the Seidmans' research, agrees. "Any scientific progress in HCM testing is a move in the right direction," she says. "We now have something else available to help us make wiser decisions in the future." Borsari adds that when her own son and daughter were born—in 2000 and 2003, respectively—she immediately had researchers test their blood for HCM mutations. (She prefers to keep the results confidential.)

The center's laboratory of molecular medicine performs the test as one of many genetic tests available to the public.

As the Seidmans' research evolves, their findings could improve future versions of the HCM test—or, possibly, lead to therapies that treat the condition. For example, in studying the genetically engineered mice that the Seidman lab uses to unravel HCM's molecular mechanisms, the researchers could discover molecular signals that kickstart abnormal growth in heart muscle cells, leading to hypertrophy. The ability to block such signaling could form a major therapeutic advance.

Looking ahead, Christine Seidman says that society—from doctors and patients to employers and insurers—must learn how to deal with genetic information as an emerging medical tool. "Genetic tests can be enormously informative and potentially life-saving," she says. "At the same time, this is very personal and powerful information, with all the issues that brings."

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