Department of Genetics, Cell Biology, & Development, University of Minnesota-Twin Cities, Minneapolis, Minnesota, USA.
College of Public Health, University of South Florida, Tampa, Florida, USA.
J Genet Couns. 2022 Aug;31(4):847-859. doi: 10.1002/jgc4.1554. Epub 2022 Feb 12.
Current genetic counseling practice has not been found to significantly increase risk communication between family members. A more diverse set of genetic counseling approaches may be needed. A genetic counseling intervention based on motivational interviewing principles and the extended parallel process model was utilized to increase cascade outcomes within families with familial hypercholesterolemia, a common, underdiagnosed, and treatable condition. Parents of children with familial hypercholesterolemia were invited to participate in an online pre-survey, single-session genetic counseling intervention, and post-intervention surveys as a part of the CHEERS (Cholesterol Evaluation to Explore Risk Screening) intervention. This study investigated the efficacy of a genetic counselor delivered motivational interviewing intervention and how parents of children with familial hypercholesterolemia react by assessing family member cholesterol screening and risk communication to at-risk relatives. Transcripts were audio-recorded, transcribed, and analyzed for change talk using the Motivational Interviewing Skill Code version 2.1. Participant surveys were analyzed for self-reported extended parallel process constructs and motivations. Coincidence analysis was conducted to explore differences between those with and without positive cascade outcomes within 12 months after the intervention. On average, change talk increased during the session in order of the extended parallel process constructs (perceived severity, susceptibility, response efficacy, self-efficacy). Coincidence analysis revealed that 6 of the 7 cases with positive cascade outcomes were explained by either the presence of high change talk during the intervention or presence of positive motivations shortly after, while 5 of the 5 cases without a positive outcome lacked both of these key factors that were associated with cascade outcomes. Results of this study suggest that incorporating motivational interviewing and the extended parallel process model increases change talk and that the presence of either high levels of change talk or positive motivations is associated with positive cascade outcomes.
目前的遗传咨询实践并未发现显著增加家庭成员之间的风险沟通。可能需要更多样化的遗传咨询方法。一项基于动机访谈原则和扩展并行处理模型的遗传咨询干预措施，被用于增加家族性高胆固醇血症患者家庭中的级联结果，家族性高胆固醇血症是一种常见的、诊断不足且可治疗的疾病。邀请家族性高胆固醇血症患儿的父母参加在线预调查、单次遗传咨询干预和干预后的调查，作为 CHEERS（胆固醇评估以探索风险筛查）干预的一部分。本研究调查了遗传咨询师提供的动机访谈干预的效果，以及家族性高胆固醇血症患儿的父母如何通过评估有风险的亲属的家庭成员胆固醇筛查和风险沟通来做出反应。对音频记录的转录本进行了分析，使用动机访谈技能代码版本 2.1 分析变化对话。对参与者的调查进行了分析，以了解自我报告的扩展并行处理结构和动机。巧合分析用于探索干预后 12 个月内有和没有积极级联结果的参与者之间的差异。平均而言，为了扩展并行处理结构的顺序（感知严重性、易感性、反应效果、自我效能），会话期间的变化对话增加。巧合分析显示，在积极级联结果的 7 个案例中，有 6 个案例是由于干预期间存在高变化对话或干预后不久存在积极动机，而在没有积极结果的 5 个案例中，缺乏这两个与级联结果相关的关键因素。本研究的结果表明，纳入动机访谈和扩展并行处理模型可以增加变化对话，并且高水平的变化对话或积极的动机的存在与积极的级联结果相关。
