Morrish Ansley M, Smith Janine, Enriquez Annabelle, Sholler Gary F, Mervis Jonathan, Dunwoodie Sally L, Kirk Edwin P, Winlaw David S, Blue Gillian M
Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia.
Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia; Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
Trends Cardiovasc Med. 2022 Jul;32(5):311-319. doi: 10.1016/j.tcm.2021.04.011. Epub 2021 May 5.
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.
儿科先天性心脏病（CHD）的基因和基因组检测正变得越来越常规化，并且可能具有重要的心理社会、临床和生殖方面的影响。在本文中，我们强调了在为儿科CHD提供遗传学咨询和检测时的重要挑战和注意事项，并阐述了专门的CHD遗传学诊所的作用。关键要点包括：a）基因诊断具有临床实用性，这证明在生命早期进行检测是合理的；b）充分的遗传咨询对于确保家庭得到支持、理解可能的结果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大量信息。我们的经验表明，专门的CHD遗传学诊所是为患有CHD的儿童提供护理的多学科团队的宝贵补充。
