Familial hypercholesterolemia (FH) is an inherited condition resulting in increased risk of premature cardiovascular disease. This risk can be reduced with early diagnosis and treatment, but it can be challenging to identify individuals with FH. Cascade screening, the most efficient and cost-effective identification method, requires FH patients to communicate with their at-risk family and encourage them to pursue screening. Beyond FH, patients with conditions increasing disease risk to family members report barriers to the communication process such as insufficient knowledge of the condition and discomfort informing relatives. We conducted a pilot study of a genetic counseling intervention incorporating behavior-change principles from motivational interviewing (MI) and the extended parallel process model (EPPM) to help parents of children with FH overcome these barriers and improve cascade screening rates for FH. Of the 13 participants who completed the intervention and post-intervention surveys, 6 reported contacting and/or screening additional relatives. A large effect size in increasing communication and screening was observed (η² = 0.20), with the mean percent of at-risk relatives contacted rising from 33% to 45%, and the mean percent screened rising from 32% to 42%. On average, 2.23 new relatives were contacted and 2.46 were screened, per participant, by the end of the study. Direct content analysis revealed that despite the open-ended nature of the goal-setting process, participant goals fell into two categories including those who set goals focused on communicating with and screening family members (n = 9) and those who set goals only focused on managing FH (n = 4). Overall, the communication and screening rates reported after the intervention were higher than previous observations in adult FH populations. These results suggest this EPPM/MI genetic counseling intervention could be a useful tool for increasing communication and cascade screening for FH. With further research on goal-setting techniques, the intervention could be refined and replicated to identify more individuals affected by FH or modified for use with other actionable genetic conditions.

中文翻译：

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使用动机性访谈和扩展平行过程模型来增加级联胆固醇筛查的遗传咨询干预试验的结果

家族性高胆固醇血症 (FH) 是一种遗传性疾病，导致过早心血管疾病的风险增加。这种风险可以通过早期诊断和治疗来降低，但识别 FH 个体可能具有挑战性。级联筛查是最有效和最具成本效益的识别方法，需要 FH 患者与其高危家庭沟通并鼓励他们进行筛查。除了 FH，患有增加家庭成员疾病风险的患者报告了沟通过程中的障碍，例如对病情的了解不足和不适通知亲属。我们对遗传咨询干预进行了一项试点研究，该干预结合了动机性访谈 (MI) 和扩展并行过程模型 (EPPM) 的行为改变原则，以帮助 FH 儿童的父母克服这些障碍并提高 FH 的级联筛查率。在完成干预和干预后调查的 13 名参与者中，有 6 人报告联系和/或筛选了其他亲属。观察到在增加交流和筛选方面有很大的影响（η²  = 0.20），接触的高危亲属的平均百分比从 33% 上升到 45%，平均筛查百分比从 32% 上升到 42%。在研究结束时，每位参与者平均联系了 2.23 名新亲属，并筛查了 2.46 名亲属。直接内容分析表明，尽管目标设定过程具有开放式性质，但参与者的目标分为两类，包括设定目标侧重于与家庭成员沟通和筛选的人（n  = 9）和设定目标的人只关注管理 FH ( n = 4)。总体而言，干预后报告的沟通和筛查率高于之前在成人 FH 人群中的观察结果。这些结果表明，这种 EPPM/MI 遗传咨询干预可能是增加 FH 沟通和级联筛查的有用工具。随着对目标设定技术的进一步研究，可以改进和复制干预措施，以识别更多受 FH 影响或被修改以用于其他可操作遗传条件的个体。