1. A new era of genetic testing in congenital heart disease: A review
- Author
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Gary F. Sholler, Sally L. Dunwoodie, Edwin P. Kirk, Annabelle Enriquez, Jonathan Mervis, Gillian M. Blue, David S. Winlaw, Janine Smith, and Ansley M. Morrish
- Subjects
Heart Defects, Congenital ,medicine.medical_specialty ,Heart disease ,Genetic counseling ,Genetic Counseling ,Genomics ,030204 cardiovascular system & hematology ,03 medical and health sciences ,0302 clinical medicine ,Humans ,Medicine ,Genetic Testing ,030212 general & internal medicine ,Child ,Intensive care medicine ,Referral and Consultation ,Genetic testing ,medicine.diagnostic_test ,business.industry ,medicine.disease ,Medical genetics ,Health information ,Personalized medicine ,Cardiology and Cardiovascular Medicine ,business ,Psychosocial - 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.
- Published
- 2022
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