FEB 24, 2018 7:38 AM PST

Are Genetic Tests for Heart Disease Reliable?

WRITTEN BY: Kara Marker

Genetic tests for inherited heart conditions are becoming more common. However, misinterpreted test results leading to psychological and behavioral changes in some individuals who get the test often accompany testing. Scientists from the University of Sydney have noticed this trend and call for better cardiac genetic counseling for individuals considering getting tested.

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant condition, meaning that individuals have a 50% chance of inheriting HCM from their parents.

Genetic testing is particularly popular for a heart condition called hypertrophic cardiomyopathy (HCM), a common cause of sudden cardiac death, especially for young athletes. HCM is characterized by heart cells becoming bigger and bigger, eventually thickening the walls of the ventricles and impairing proper heart function. Some people inherit the gene for HCM but show no signs of the disease; researchers call this population “silent gene carriers.”

"With more and more people getting genetic testing for this condition, there is now a growing population of "silent gene carriers" being identified,” explained Dr. Carissa Bonner. "Little is known about how a positive genetic test result for HCM affects newly diagnosed patients who are at risk but may never develop symptoms.”

Thus, a positive genetic test result for HCM does not necessarily mean that a person already has HCM or will develop HCM, just that they are at risk of doing so. Bonner and others are wondering if such patients are better off not knowing about their risk.

Because although HCM is a serious condition the requires lifestyle changes, misinterpretation of HCM genetic test results can lead to psychological and behavioral changes. And patients deciding to get tested may not take these potential changes into account. Patients affected by psychological changes were usually those who received positive test results and mistakenly believed that they had a serious heart condition, not realizing that the results only mean that they are at risk of developing a heart condition.

"This included shock and anxiety about the test result, worry about developing symptoms, worry about children, family planning decisions, and restrictions on physical activity, career options and access to travel insurance,” Bonner explained. “They wanted to rule out the possibility for the next generation, which meant they weren't really thinking about the impact on their own lives."

In response to this trend, Bonner and others stress the importance of ensuring individuals fully understand what their test results will mean before they take the test.

The present study was published in the Journal of Genetic Counseling.

Sources: University of Sydney, American Heart Association

About the Author
  • I am a scientific journalist and enthusiast, especially in the realm of biomedicine. I am passionate about conveying the truth in scientific phenomena and subsequently improving health and public awareness. Sometimes scientific research needs a translator to effectively communicate the scientific jargon present in significant findings. I plan to be that translating communicator, and I hope to decrease the spread of misrepresented scientific phenomena! Check out my science blog: ScienceKara.com.
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