Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population.
Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population.
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DOI：
10.1002/mgg3.353
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发表时间：
2018-01
影响因子：
2
通讯作者：
Young PJ
中科院分区：
文献类型：
--
作者：
Boardman FK;Sadler C;Young PJ
脊髓性肌萎缩症（SMA）是一种遗传性神经肌肉疾病，也是全球婴儿死亡的主要遗传原因。然而，在英国没有SMA的常规筛查计划。缺乏治疗和筛查测试无法准确预测疾病的严重程度是英国筛查实施不力的主要原因之一。随着最近SMA（Nusinersen）的首个治疗方法的发布，人们呼吁重新考虑这一立场;然而，对公众的观点知之甚少。对232名既往与SMA无关系的个体进行了一项在线调查，以评估他们对新生儿筛查计划的态度，并将结果与先前收集的SMA影响家庭对筛查的看法数据进行比较。84%的参与者赞成新生儿筛查。支持的主要原因是相信这将为受影响的婴儿带来更好的医疗保健和预期寿命，并促进未来怀孕的知情决策。不支持的主要原因是相信在家庭单位的结合和压力方面可能会产生重大的负面影响。公众的可接受性是评估英国任何潜在筛查计划的关键组成部分。这项研究表明，新生儿筛查SMA在很大程度上被不熟悉这种情况的人积极看待。对于大多数参与者来说，早期识别的重要性压倒了所有其他关于筛查的社会和伦理问题。
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routine screening program for SMA in the UK. Lack of treatments and the inability of screening tests to accurately predict disease severity are among the key reasons implementation of screening has faltered in the UK. With the recent release of the first therapy for SMA (Nusinersen), calls are being made for a reconsideration of this stance; however, very little is known about the views of the general public. An online survey was administered to 232 individuals with no prior relationship with SMA to assess their attitudes toward a newborn screening program for it. Results are compared with previously gathered data on the views of SMA‐affected families toward screening. Eighty‐four percent of participants were in favor of newborn screening. Key reasons for support were a belief that it would lead to better healthcare and life expectancy for affected infants and facilitate informed decision‐making for future pregnancies. Key reasons for nonsupport were a belief in the potential for significant negative impact on the family unit in terms of bonding and stress. Public acceptability is a key component in the evaluation of any potential screening program in the UK. This study demonstrates that newborn screening for SMA is viewed largely positively by people unfamiliar with the condition. The importance of early identification overrode all other social and ethical concerns about screening for the majority of participants.
影响因子：
5.4
作者：
Grob, Rachel
通讯作者：
Grob, Rachel
影响因子：
10
作者：
DANKERTROELSE, JE;MEERMAN, GJT
通讯作者：
MEERMAN, GJT
影响因子：
5.2
作者：
Lawton, Sally;Hickerton, Chriselle;Metcalfe, Sylvia A.
通讯作者：
Metcalfe, Sylvia A.