Integration of child-parent screening and cascade testing for familial hypercholesterolaemia.
Integration of child-parent screening and cascade testing for familial hypercholesterolaemia.
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对家族性高胆固醇血症的儿童父母筛查和级联测试的整合。
DOI：
10.1177/0969141318796856
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发表时间：
2019-06
影响因子：
2.9
通讯作者：
Wald NJ
中科院分区：
文献类型：
--
作者：
Wald DS;Wald NJ
将儿童-父母筛查和级联试验整合到单一途径-儿童-父母级联筛查（CPCS）中，以确定人群中的家族性高胆固醇血症，并估计每个筛查儿童中确定的新发家族性高胆固醇血症病例数和相关费用。我们将已发表的MRC儿童-父母筛查研究的结果应用于10，000名儿童，并对通过儿童-父母筛查确定的家族性高胆固醇血症突变的父母的一级亲属进行级联测试。我们估计了每个筛查儿童确定的家族性高胆固醇血症病例数、每个确定的家族性高胆固醇血症病例的中位成本以及每个筛查儿童的中位成本，以使用一系列胆固醇和家族性高胆固醇血症突变检测成本来确定一个病例。我们提出了一个案例研究来说明CPCS在实践中的应用。CPCS确定每70名儿童筛查一个新的家族性高胆固醇血症病例，每个新的家族性高胆固醇血症病例的中位数估计费用为960英镑，或每个儿童筛查4英镑。CPCS确定了平均每个家庭四个新的家族性高胆固醇血症病例。在病例研究中，发现了6例新的家族性高胆固醇血症病例，并对其中5例开始了预防性治疗，预计指标儿童将在年龄较大时开始治疗。家族性高胆固醇血症的CPCS是补充策略。级联检验的可持续性依赖于识别新的不相关指数病例。这是通过全人群的儿童-父母筛查来实现的。综合CPCS目前优于任何一种单独的家族性高胆固醇血症检测方法。它有可能以低成本确定所有或几乎所有的家族性高胆固醇血症个体。
To integrate child–parent screening and cascade testing into a single pathway-child-parent cascade screening (CPCS), for the identification of familial hypercholesterolaemia in the population and to estimate the number of new familial hypercholesterolaemia cases identified per child screened and the associated costs. We applied the results from the published MRC Child–Parent Screening Study to 10,000 children, together with cascade testing first degree relatives of parents with a familial hypercholesterolaemia mutation identified by child–parent screening. We estimated the number of familial hypercholesterolaemia cases identified per child screened, the median cost per familial hypercholesterolaemia case identified and the median cost per child screened to identify one case using a range of cholesterol and familial hypercholesterolaemia mutation testing costs. We present a case study to illustrate the application of CPCS in practice. CPCS identifies one new familial hypercholesterolaemia case per 70 children screened at a median estimated cost of £960 per new familial hypercholesterolaemia case or £4 per child screened. CPCS identifies an average of four new familial hypercholesterolaemia cases per family. In the case study, six new familial hypercholesterolaemia cases were identified, and preventive treatment started in five, with the index child expected to start when older. CPCS for familial hypercholesterolaemia are complementary strategies. The sustainability of cascade testing relies on identifying new unrelated index cases. This is achieved with population-wide child–parent screening. Integrated CPCS is currently better than either method of familial hypercholesterolaemia detection alone. It has the potential to identify all, or nearly all, individuals with familial hypercholesterolaemia in the population at low cost.
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影响因子：
105.7
作者：
Marks, D;Wonderling, D;Neil, HAW
通讯作者：
Neil, HAW
影响因子：
8
作者：
Calonge, Ned;Petitti, Diana B.;Yawn, Barbara P.
通讯作者：
Yawn, Barbara P.
影响因子：
2
作者：
Morris, Joan K.;Wald, David S.;Wald, Nicholas J.
通讯作者：
Wald, Nicholas J.
影响因子：
2.2
作者：
Hadfield, S. G.;Horara, S.;Humphries, S. E.
通讯作者：
Humphries, S. E.
影响因子：
158.5
作者：
Wald, David S.;Bestwick, Jonathan P.;Wald, Nicholas J.
通讯作者：
Wald, Nicholas J.