Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases.
Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases.
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DOI：
10.1038/ejhg.2016.43
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发表时间：
2016-10
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影响因子：
--
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随着国际社会对个性化医疗保健和预防医学的日益关注，下一代测序（NGS）大大扩展了严重的复发性遗传疾病的携带者筛查选择。NGS筛查测试不仅提供了以前夫妇无法获得的生殖选择，而且还可能最终减少出生时患有毁灭性疾病的儿童数量。到目前为止，孕前携带者筛查（PCS）主要针对单一疾病，如囊性纤维化，但NGS允许同时测试许多基因或疾病。我们已经开发了一个扩展的NGS PCS测试夫妇;同时它涵盖了50非常严重的，早发性，常染色体隐性遗传疾病是无法治疗的。这是第一个非商业性的，基于人群的，扩展的PCS测试，将在欧洲的医疗保健环境中前瞻性地提供给夫妇。到目前为止，人们对潜在用户如何看待这种PCS测试知之甚少。因此，我们在2014年对荷兰目标人群中的500人进行了在线调查。我们询问他们是否打算采取扩大PCS测试，如果一个提供，并通过提供者，他们希望看到它提供。三分之一的受访者表示，如果提供这样的测试，他们会参加。大多数人（44%）更喜欢通过他们的全科医生（GP）提供测试，58%的人愿意支付测试费用，中位数为75欧元。我们的下一步是执行一项实施研究，其中PCS测试将通过荷兰北方选定的GP提供。
With the increased international focus on personalized health care and preventive medicine, next-generation sequencing (NGS) has substantially expanded the options for carrier screening of serious, recessively inherited diseases. NGS screening tests not only offer reproductive options not previously available to couples, but they may also ultimately reduce the number of children born with devastating disorders. To date, preconception carrier screening (PCS) has largely targeted single diseases such as cystic fibrosis, but NGS allows the testing of many genes or diseases simultaneously. We have developed an expanded NGS PCS test for couples; simultaneously it covers 50 very serious, early-onset, autosomal recessive diseases that are untreatable. This is the first, noncommercial, population-based, expanded PCS test to be offered prospectively to couples in a health-care setting in Europe. So far, little is known about how potential users view such a PCS test. We therefore performed an online survey in 2014 among 500 people from the target population in the Netherlands. We enquired about their intention to take an expanded PCS test if one was offered, and through which provider they would like to see it offered. One-third of the respondents said they would take such a test were it to be offered. The majority (44%) preferred the test to be offered via their general practitioner (GP) and 58% would be willing to pay for the test, with a median cost of €75. Our next step is to perform an implementation study in which this PCS test will be provided via selected GPs in the Northern Netherlands.
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DOI：
10.1016/0749-5978(91)90020-t
发表时间：
1991-12-01
影响因子：
4.6
作者：
AJZEN, I
通讯作者：
AJZEN, I
影响因子：
1.9
作者：
De Wert, Guido M. W. R.;Dondorp, Wybo J.;Knoppers, Bartha M.
通讯作者：
Knoppers, Bartha M.
影响因子：
1.9
作者：
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通讯作者：
Ginsberg, Jessica
影响因子：
30.8
作者：
Francioli, Laurent C.;Menelaou, Andronild;Wijmenga, Cisca
通讯作者：
Wijmenga, Cisca
DOI：
10.1089/gte.2004.8.80
发表时间：
2004-06-01
期刊：
GENETIC TESTING
影响因子：
--
作者：
Poppelaars, FAM;Henneman, L;Ten Kate, LP
通讯作者：
Ten Kate, LP