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评估遗传咨询师在先天性心脏病方面的研究生院教育和培训。

Assessing genetic counselors' graduate school education and training in congenital heart defects.

机构信息

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.

Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA.

出版信息

J Genet Couns. 2022 Jun;31(3):735-745. doi: 10.1002/jgc4.1540. Epub 2021 Dec 7.

Abstract

Genetic counselors are one of the many providers involved in caring for patients with congenital heart defects (CHDs); however, little is known about the cardiovascular genetics training they receive by their graduate programs. To explore the recalled education experiences regarding CHDs by practicing genetic counselors, we surveyed graduates of programs primarily accredited by the American Council on Genetic Counseling (ACGC) about their graduate training in this area, the depth of CHD-specific education they received, and whether CHDs are a substantial referral indication in their current practice. Genetic counselors were recruited from the National Society of Genetic Counselors and Twitter (n = 112), and participants reflecting multiple specialties and 35 graduate programs completed an online survey which included questions about fieldwork placements and lectures in cardiovascular genetics, exposure to classification schemes regarding cardiac embryology, and education in counseling strategies for CHDs and CHD-related topics during their graduate training. When asked whether CHDs are a substantial referral indication seen in their current practice, 55% (62/112) responded yes. Most participants (79%, 88/112) recalled receiving some education about CHDs, but 91% (80/88) reported receiving little to no education regarding embryologic classification of CHDs and how to apply classification schemes to their counseling. Both participating prenatal and pediatric GCs reported that CHDs can be a common referral indication, yet they reported receiving limited education on teratogens associated with CHDs, family screening recommendations, and recurrence risk counseling for CHDs. Based on participant responses, the majority of respondents reported receiving sufficient education on syndromes with CHDs which can be beneficial in specialties such as pediatrics. This exploratory study provides insight into opportunities to further support genetic counseling educational opportunities for CHDs. These findings suggest genetic counseling graduate programs could consider implementing education on CHD counseling strategies as a standardized component of the curriculum and that practicing genetic counselors could benefit from educational opportunities and resources with updated information on this topic.

摘要

遗传咨询师是众多参与先天性心脏病(CHD)患者护理的提供者之一;然而,对于他们在研究生课程中接受的心血管遗传学培训知之甚少。为了探讨执业遗传咨询师对 CHD 的回忆教育经验,我们调查了主要由美国遗传咨询委员会(ACGC)认证的项目的毕业生,了解他们在这一领域的研究生培训、接受的 CHD 特定教育的深度,以及 CHD 是否是他们当前实践中的一个重要转诊指征。遗传咨询师是从全国遗传咨询师协会和 Twitter 招募的(n=112),参与者反映了多个专业和 35 个研究生课程,完成了一项在线调查,其中包括有关心血管遗传学实地工作安置和讲座、接触心脏胚胎学分类方案以及在研究生培训中接受 CHD 咨询策略教育的问题。当被问及 CHD 是否是他们当前实践中的一个重要转诊指征时,55%(62/112)的人回答是。大多数参与者(79%,88/112)回忆起接受过一些关于 CHD 的教育,但 91%(80/88)报告说,他们几乎没有接受过关于 CHD 的胚胎学分类以及如何将分类方案应用于咨询的教育。参与的产前和儿科 GC 都报告说,CHD 可能是一个常见的转诊指征,但他们报告说,他们接受的与 CHD 相关的致畸剂、家族筛查建议和 CHD 复发风险咨询方面的教育有限。根据参与者的回答,大多数受访者报告说,他们接受了与 CHD 相关的综合征的足够教育,这在儿科等专业中是有益的。这项探索性研究为进一步支持 CHD 的遗传咨询教育机会提供了一些见解。这些发现表明,遗传咨询研究生课程可以考虑将 CHD 咨询策略教育作为课程的标准组成部分,并认为执业遗传咨询师可以从这个主题的更新信息的教育机会和资源中受益。

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