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Published on: January 16, 2019
Guidelines for genetic testing of inherited cardiac disorders
Jodie Ingles1, Poonam R Zodgekar, Laura Yeates
1Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Camperdown, New South Wales, Australia.
Insights
Genetic testing for inherited cardiac disorders varies in effectiveness. Advances in sequencing technology improve variant detection, but careful interpretation and genetic counseling are crucial for patient management.
Area of Science:
- Cardiovascular Genetics
- Genomics
- Medical Genetics
Background:
- Inherited gene variants are increasingly recognized in cardiac disorders.
- The clinical utility of genetic testing varies significantly across different cardiomyopathies and arrhythmias.
- Familial hypertrophic cardiomyopathy and familial hypercholesterolemia show high genetic testing yields, unlike dilated cardiomyopathy or Brugada syndrome.
Purpose of the Study:
- To review the current landscape of genetic testing in inherited cardiac disorders.
- To highlight the impact of technological advancements on genetic variant detection.
- To emphasize the importance of variant interpretation and genetic counseling.
Main Methods:
- Review of current literature on genetic testing in inherited cardiac disorders.
- Discussion of advancements in sequencing and array-based technologies.
- Analysis of the clinical impact and yield of genetic testing for various cardiac conditions.
Main Results:
- Genetic testing is highly effective for specific conditions like familial hypertrophic cardiomyopathy and familial hypercholesterolemia.
- For other disorders such as dilated cardiomyopathy and Brugada syndrome, genetic testing yields are currently lower.
- New technologies are expected to increase the detection rate of genomic variants significantly.
Conclusions:
- Interpreting the functional significance of novel genetic variants requires expertise.
- Genetic testing results have profound medical and psychosocial implications.
- Specialized cardiac genetic clinics are essential for providing comprehensive family management and genetic counseling.
Abstract:
Inherited gene variants have been implicated increasingly in cardiac disorders but the clinical impact of these discoveries has been variable. For some disorders, such as familial hypertrophic cardiomyopathy, long QT syndrome, and familial hypercholesterolaemia, genetic testing has a high yield and has become an integral part of family management. For other disorders, including dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and atrial fibrillation, relatively less is known about the genes involved and genetic testing has a lower yield. Recent advances in sequencing and array-based technologies promise to change the landscape of our understanding of the genetic basis of human disease and will dramatically increase the rate of detection of genomic variants. Since every individual is expected to harbour thousands of variants, many of which may be novel, interpretation of the functional significance of any single variant is critical, and should be undertaken by experienced personnel. Genotype results can have a wide range of medical and psychosocial implications for affected and unaffected individuals and hence, genetic testing should be performed in a specialised cardiac genetic clinic or clinical genetics service where appropriate family management and genetic counselling can be offered.
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