Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney, New South Wales, Australia.
Heart Centre for Children, The Sydney Children's Hospitals Network (Westmead and Randwick), Sydney, New South Wales, Australia.
Genet Med. 2018 Nov;20(11):1387-1395. doi: 10.1038/gim.2018.16. Epub 2018 Mar 1.
As the molecular basis of congenital heart disease (CHD) comes into sharper focus, cardiac genetics services are likely to play an increasingly important role. This study aimed to identify parents' preferences for, and willingness to participate in, clinical genetics services for CHD.
A discrete choice experiment was developed to assess parents' preferences for pediatric cardiogenetics services based on four attributes: appointment format, health professionals involved, waiting time, and information format. Data were analyzed using a mixed logit model.
One hundred parents with a living child diagnosed with CHD requiring surgical intervention between 2000 and 2009 completed the discrete choice experiment. Parents expressed a clear preference for cardiac genetics services featuring (i) a single appointment, (ii) the presence of a clinical geneticist and a genetic counselor, (iii) both verbal (oral) and Web-based information about CHD and genetics, and (iv) availability of an appointment within 2 weeks. If offered such conditions, 93% of respondents indicated that they would attend. The choice of service was most strongly influenced by the presence of both a clinical geneticist and a genetic counselor.
Parents of children with CHD favor a single, timely genetics appointment with both a geneticist and a genetic counselor present. If appointments offered match these preferences, uptake is likely to be high.
随着先天性心脏病（CHD）的分子基础越来越清晰，心脏遗传学服务可能会发挥越来越重要的作用。本研究旨在确定父母对 CHD 临床遗传学服务的偏好和参与意愿。
采用离散选择实验来评估父母对儿科心脏遗传学服务的偏好，该服务基于四个属性：预约形式、参与的医疗保健专业人员、等待时间和信息形式。使用混合 logit 模型对数据进行分析。
2000 年至 2009 年间，100 名有生活在接受心脏手术干预的 CHD 患儿的父母完成了离散选择实验。父母对以下特点的心脏遗传学服务表现出明确的偏好：（i）单次预约；（ii）临床遗传学家和遗传咨询师的参与；（iii）口头（口头）和基于 Web 的 CHD 和遗传学信息；以及（iv）在 2 周内提供预约。如果提供这些条件，93%的受访者表示他们会参加。服务的选择受是否同时有临床遗传学家和遗传咨询师的影响最大。
患有 CHD 的儿童的父母更喜欢有遗传学家和遗传咨询师同时参与的单次及时遗传学预约。如果提供的预约符合这些偏好，参与度可能会很高。
