The social and ethical implications of genetic screening - Part 1: Spinal muscular atrophy screening survey
收藏资源简介：
This data file contains the responses of 337 participants who completed the SMA Screening Survey (UK). All participants live with Spinal Muscular Atrophy in some capacity (either having it themselves or having it in their family). Participants were asked about their views towards population genetic screening: pre-conception genetic screening, prenatal genetic screening and newborn genetic screening. They were also asked about their previous use of reproductive genetic technologies and their views on the wider issue of pregnancy termination. Data collection occurred between September 2014 and June 2015. A related data collection consisting of interview transcripts is also made available (see Related Resources). <p>This study explores the social and ethical implications of the potential introduction of genetic screening for conditions with variable presentations and focusing on the condition Spinal Muscular Atrophy (SMA). The study aims to explore what families living with SMA think about genetic screening and testing in order to understand the role and value of direct ‘experiential knowledge’ in reproductive decision-making. The study also aims to explore whether families living with genetic disease approach screening decisions in a different way to pregnant women from the general population without such ‘experiential knowledge’ of the condition being screened for. </p>
本数据集收录了337名完成英国脊髓性肌萎缩症（Spinal Muscular Atrophy, SMA）筛查问卷的受访者的答复。所有受访者均存在不同程度的脊髓性肌萎缩症受累情况：或是自身罹患该病症，或是家族成员携带该疾病。调研内容涵盖受访者对群体基因筛查的态度，具体涉及孕前基因筛查、产前基因筛查及新生儿基因筛查；同时询问了他们既往使用生殖基因技术的情况，以及对终止妊娠相关议题的看法。数据采集工作于2014年9月至2015年6月间开展。另有包含访谈转录文本的关联数据集可供获取（详见相关资源）。 本研究聚焦于脊髓性肌萎缩症（SMA），探讨针对表型各异的疾病开展基因筛查的潜在社会与伦理影响。本研究旨在调研SMA受累家庭对基因筛查与检测的态度，以厘清直接“体验式认知”在生殖决策中的作用与价值。此外，本研究还旨在探究：罹患遗传病的家庭在筛查决策上，是否与未拥有所筛查疾病“体验式认知”的普通人群孕妇存在差异。
