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A new era of genetic testing in congenital heart disease: A review
Ansley M Morrish1, Janine Smith2, Annabelle Enriquez3
1Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia.
Insights
Genetic testing for congenital heart disease (CHD) offers clinical benefits but requires careful genetic counseling. A specialized CHD genetics clinic aids families in navigating results and managing complex health information.
Area of Science:
- Pediatric Cardiology
- Genetics
- Genomic Medicine
Background:
- Genetic and genomic testing is increasingly common for pediatric congenital heart disease (CHD).
- These tests have significant psychosocial, clinical, and reproductive implications for families.
- Challenges exist in integrating genetic testing into routine pediatric CHD care.
Purpose of the Study:
- To highlight challenges and considerations in providing genetic consults and testing for pediatric CHD.
- To illustrate the role and value of a dedicated CHD genetics clinic.
- To emphasize the need for integrating genetics and cardiology workflows.
Main Methods:
- Review of clinical experience and lessons learned from a dedicated CHD genetics clinic.
- Analysis of the implications of genetic testing in pediatric CHD patients.
- Discussion of best practices for genetic counseling and workflow integration.
Main Results:
- Genetic diagnosis in pediatric CHD has early clinical utility.
- Comprehensive genetic counseling is essential for family support and understanding results.
- Effective management of genetic testing data requires integrated clinical genetics and cardiology workflows.
Conclusions:
- A dedicated CHD genetics clinic is a valuable component of multidisciplinary care for children with CHD.
- Early genetic testing and counseling improve outcomes and family preparedness.
- Enhanced collaboration between genetics and cardiology is crucial for managing complex genomic information.
Abstract:
Genetic and genomic testing in pediatric CHD is becoming increasingly routine, and can have important psychosocial, clinical and reproductive implications. In this paper we highlight important challenges and considerations when providing genetics consults and testing in pediatric CHD and illustrate the role of a dedicated CHD genetics clinic. Key lessons include that a) a genetic diagnosis can have clinical utility that justifies testing early in life, b) adequate genetic counselling is crucial to ensure families are supported, understand the range of possible results, and are prepared for new or unexpected health information, and c) further integration of the clinical genetics and cardiology workflows will be required to effectively manage the burgeoning information arising from genetic testing. Our experience demonstrates that a dedicated CHD genetics clinic is a valuable addition to a multidisciplinary team providing care to children with CHD.
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