Christian Susan, Dzwiniel Tara, Baker Amy, Biesecker Barbara, Borle Kennedy, Mostafavi Roya, Slamon Jill, Wand Hannah, Yeates Laura
University of Alberta, Edmonton, Alberta, Canada.
Genetics and Genomics, Alberta Precision Labs, Edmonton, Alberta, Canada.
J Genet Couns. 2025 Apr;34(2):e1995. doi: 10.1002/jgc4.1995. Epub 2024 Dec 2.
The rising demand for genetic counseling has prompted the implementation of various innovative service delivery models, such as patient webinars, videos, chatbots, and the integration of genetic testing into mainstream healthcare. To ensure patients receive adequate information for informed decision-making, validated measures to assess these models are essential but currently limited in the setting of inherited heart disease. We aimed to develop and initiate validation of a cardiac knowledge scale, as part of the Multidimensional Model of Informed Choice measure, to assess whether patients (probands and family members) with inherited cardiomyopathies, arrhythmias, and aortopathies are provided with sufficient knowledge to make informed decisions about genetic testing. Content expert genetic counselors identified eight core concepts addressed during genetic counseling sessions; from these, eight true/false knowledge questions were created. Questions were reviewed by 22 international cardiac genetics counselors with additional changes made. Initial validation steps of the knowledge scale were conducted at two sites: the Edmonton Medical Genetic Clinic, University of Alberta Hospital in Edmonton, Canada, and the Genetic Heart Disease Clinic, Royal Prince Alfred Hospital in Sydney, Australia. Face validity was evaluated through nine patient interviews, resulting in minor revisions to four questions and major revisions to one question. An additional five patient interviews were conducted to evaluate the revised questions. The core concepts addressed in each question were further evaluated in the context of patient decision-making about genetic testing. All participants described the eight concepts as either helpful or essential in their decision-making process. The cardiac knowledge scale is a promising measure created to evaluate the informed choice of patients and their families affected by an inherited heart condition. The next step of validation includes trialing the cardiac knowledge scale with a real-world sample of patients deciding about genetic testing for inherited heart disease.
对遗传咨询需求的不断增加促使了各种创新服务提供模式的实施,如患者网络研讨会、视频、聊天机器人,以及将基因检测整合到主流医疗保健中。为确保患者获得足够信息以做出明智决策,评估这些模式的有效措施至关重要,但目前在遗传性心脏病领域有限。我们旨在开发并启动一项心脏知识量表的验证,作为知情选择多维模型测量的一部分,以评估患有遗传性心肌病、心律失常和主动脉病变的患者(先证者及其家庭成员)是否获得了足够的知识来就基因检测做出明智决策。内容专家遗传咨询师确定了遗传咨询会议中涉及的八个核心概念;据此创建了八个是非知识问题。22名国际心脏遗传学咨询师对问题进行了审查并做了进一步修改。知识量表的初步验证步骤在两个地点进行:加拿大埃德蒙顿阿尔伯塔大学医院的埃德蒙顿医学遗传诊所,以及澳大利亚悉尼皇家阿尔弗雷德王子医院的遗传性心脏病诊所。通过对九名患者的访谈评估表面效度,对四个问题进行了小修改,对一个问题进行了大修改。又进行了五次患者访谈以评估修改后的问题。在患者关于基因检测的决策背景下,进一步评估了每个问题中涉及的核心概念。所有参与者都将这八个概念描述为在他们的决策过程中有用或必不可少。心脏知识量表是一项有前景的测量工具,旨在评估受遗传性心脏病影响的患者及其家属的知情选择。验证的下一步包括在决定进行遗传性心脏病基因检测的真实患者样本中试用心脏知识量表。