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.

儿科 CHD 的基因和基因组检测正变得越来越常规，并且可能具有重要的社会心理、临床和生殖影响。在本文中，我们强调了在为儿科 CHD 提供遗传学咨询和测试时的重要挑战和考虑因素，并说明了专门的 CHD 遗传学诊所的作用。主要经验包括：a）基因诊断可以具有临床效用，证明生命早期检测的合理性，b）充分的遗传咨询对于确保家庭得到支持、了解可能结果的范围以及为新的或意外的健康信息做好准备至关重要， c) 需要进一步整合临床遗传学和心脏病学工作流程，以有效管理基因检测产生的新兴信息。