Impairment Experiences, Identity and Attitudes Towards Genetic Screening: the Views of People with Spinal Muscular Atrophy.
Impairment Experiences, Identity and Attitudes Towards Genetic Screening: the Views of People with Spinal Muscular Atrophy.
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DOI：
10.1007/s10897-017-0122-7
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发表时间：
2018-03
影响因子：
1.9
通讯作者：
Griffiths FE
中科院分区：
文献类型：
--
作者：
Boardman FK;Young PJ;Griffiths FE
遗传学的发展正在迅速改变筛查实践的能力和范围。然而，在探索其影响的文献中，患有遗传疾病的人的代表性不足。这项混合方法研究探讨了脊髓性肌萎缩症（SMA）患者对三种不同人群水平的SMA基因筛查方案的态度：孕前、产前和新生儿筛查。根据定性访谈（n = 15）和一项调查（n = 82），本研究表明，与症状较轻、发病较晚和/或波动性症状（III/ IV型SMA）的个体相比，早发性症状（II型SMA）受影响更严重的个体不太可能支持筛查，更有可能积极看待SMA。事实上，这组临床症状较温和的人更有可能支持所有形式的筛查，并对SMA持负面看法。这篇论文强调，筛选是一个复杂的问题，对于有遗传条件的人来说，损伤经历的性质在形成态度方面起着关键作用。
Developments in genetics are rapidly changing the capacity and scope of screening practices. However, people with genetic conditions have been under-represented in the literature exploring their implications. This mixed methods study explores the attitudes of people with Spinal Muscular Atrophy (SMA) towards three different population-level genetic screening programmes for SMA: pre-conception, prenatal and newborn screening. Drawing on qualitative interviews (n = 15) and a survey (n = 82), this study demonstrates that more severely affected individuals with early-onset symptoms (Type II SMA), are less likely to support screening and more likely to view SMA positively than those with milder, later onset and/or fluctuating symptoms (Types III/ IV SMA). Indeed, this clinically milder group were more likely to support all forms of screening and view SMA negatively. This paper highlights that screening is a complex issue for people with genetic conditions, and the nature of impairment experiences plays a critical role in shaping attitudes.
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影响因子：
5
作者：
Hahn, Harlan D.;Belt, Todd L.
通讯作者：
Belt, Todd L.
影响因子：
5
作者：
Butchbach ME
通讯作者：
Butchbach ME
DOI：
10.2147/ijwh.s67124
发表时间：
2015
期刊：
International journal of women's health
影响因子：
--
作者：
Allyse M;Minear MA;Berson E;Sridhar S;Rote M;Hung A;Chandrasekharan S
通讯作者：
Chandrasekharan S
影响因子：
4
作者：
BENJAMIN, CM;COLLEY, A;KERZINSTORRAR, L
通讯作者：
KERZINSTORRAR, L
影响因子：
2.9
作者：
Hallowell, Nina;Arden-Jones, Audrey;Watson, Maggie
通讯作者：
Watson, Maggie