Bowman Faye L, Molster Caron M, Lister Karla J, Bauskis Alicia T, Garton-Smith Jacquie, Vickery Alistair W, Watts Gerald F, Martin Andrew C
Office of Population Health Genomics, Public and Aboriginal Health Division, Western Australian Department of Health, East Perth, Washington, Australia,
Office of Population Health Genomics, Public and Aboriginal Health Division, Western Australian Department of Health, East Perth, Washington, Australia.
Public Health Genomics. 2019;22(1-2):25-35. doi: 10.1159/000501463. Epub 2019 Jul 22.
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.
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.
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.
背景/目的：家族性高胆固醇血症（FH）是一种常见的遗传性疾病，若不加以治疗，会使个体易患早发性冠心病。由于大多数FH患者仍未被诊断出来，因此需要新的检测方法，且应将其视为公共卫生基因组学的优先事项。有人提议对儿童进行FH的普遍筛查，本研究探讨了公众对这种方法可接受性的看法。
在澳大利亚西澳大利亚州的珀斯举行了为期一天的公众审议论坛。随机招募了30名个体，利用自我报告的社会人口学特征来实现话语代表性。从各种角度向参与者提供信息，并要求他们讨论所提供的信息，以确定共识点和分歧点。使用主题分析法对收集到的数据进行分析。
在论坛的17名参与者中，16人认为对儿童进行FH的普遍筛查是可以接受的。这16人中的15人认为在接种疫苗时进行这种筛查最为合适。参与者提出了一些应满足的条件，以降低筛查过程中产生意外伤害的可能性。
讨论/结论：论坛结果表明，在西澳大利亚州，为儿童建立FH普遍筛查计划为公众所接受。
