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Updated: Apr 26, 2026
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
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The value of cardiac genetic testing
Jodie Ingles1, Christopher Semsarian2
1Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, Australia.
Trends in Cardiovascular Medicine
|July 29, 2014
Summary
Genetic testing is crucial for managing inherited heart conditions, offering valuable insights into disease origins. Its primary benefit lies in enabling predictive genetic testing for at-risk family members.
Area of Science:
- Cardiovascular Genetics
- Medical Genomics
Background:
- Genetic testing is integral to managing inherited cardiac conditions.
- Commercial genetic tests have advanced significantly, improving knowledge of genetic disease underpinnings.
Purpose of the Study:
- To review the value of cardiac genetic testing.
- To highlight its utility in the context of rapid genetic technology advancements.
Main Methods:
- Review of current literature on cardiac genetic testing.
- Analysis of the impact of technological advancements on genetic diagnostics.
Main Results:
- Increased availability and affordability of genetic tests have expanded understanding of cardiac genetics.
- Variant interpretation remains a challenge, but genetic diagnosis holds significant value.
- Predictive genetic testing for family members is a key utility of cardiac genetic testing.
Conclusions:
- Cardiac genetic testing is essential for family management and understanding disease.
- Despite challenges, the benefits of genetic diagnosis, particularly for family screening, are substantial.
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