Background/Aims: Familial hypercholesterolaemia (FH) is a common genetic disorder that, if untreated, predisposes individuals to premature coronary heart disease. As most individuals with FH remain undiagnosed, new approaches to detection are needed and should be considered a priority in public health genomics. Universal screening of children for FH has been proposed, and this study explores public perspectives on the acceptability of this approach. Methods: A one-day deliberative public forum was held in Perth, WA, Australia. Thirty randomly selected individuals were recruited, with self-reported sociodemographic characteristics used to obtain discursive representation. Participants were presented with information from a variety of perspectives and asked to discuss the information provided to identify points of consensus and disagreement. The data collected were analysed using thematic analysis. Results: Of the 17 participants at the forum, 16 deemed universal screening of children for FH to be acceptable. Fifteen of these 16 believed this was best performed at the time of an immunisation. Participants proposed a number of conditions that should be met to reduce the likelihood of unintended harm resulting from the screening process. Discussion/Conclusion: The outcomes of the forum suggest that establishing a universal screening programme for FH in childhood is acceptable to the general public in WA.

中文翻译：

---

确定公众对儿童家族性高胆固醇血症普遍筛查的看法和偏好


背景/目标：家族性高胆固醇血症（FH）是一种常见的遗传性疾病，如果不治疗，个体容易患上过早冠心病。由于大多数 FH 患者仍未得到诊断，因此需要新的检测方法，并且应将其视为公共卫生基因组学的优先事项。已经提议对儿童进行全面的 FH 筛查，本研究探讨了公众对这种方法可接受性的看法。方法：在澳大利亚西澳州珀斯举行了为期一天的公共审议论坛。随机招募了 30 名个体，通过自我报告的社会人口特征来获得话语表征。参与者从不同的角度获得信息，并被要求讨论所提供的信息，以确定共识和分歧点。使用主题分析对收集的数据进行分析。结果：在论坛的 17 名参与者中，16 名参与者认为对儿童进行 FH 普遍筛查是可以接受的。这 16 人中的 15 人认为这在免疫接种时效果最好。参与者提出了一些应满足的条件，以减少筛查过程中造成意外伤害的可能性。讨论/结论：论坛的结果表明，建立儿童期家族性高胆固醇血症的普遍筛查计划是西澳公众可以接受的。