Selecting Futures: The Social and Ethical Implications of Genetic Screening

在过去的50年里，基因医学的发展对未来父母所做决定的数量和性质产生了巨大的影响。在未来几年，随着英国政府考虑引入孕前和产前基因筛查，这些决定似乎会增加。孕前和产前基因筛查包括对夫妇或孕妇进行基因检测，以确定她们是否是某种遗传疾病的“携带者”（即她们本身没有这种疾病，但可以将其传给下一代）。在此之前，这项测试只针对家族中有遗传病史的人，这意味着他们通常会熟悉这种疾病的影响。基因筛查的引入意味着每个人都可以在怀孕前或怀孕后进行检测，以确定他们是否携带遗传疾病。因此，公众需要做出决定，是否接受他们可能从未经历过或听说过的疾病筛查。患有遗传疾病的家庭可以提供独特的见解，让我们了解患有可以筛查的疾病的生活是什么样的；他们对筛查的态度，以及他们决定使用这种测试的方式，可以告诉我们“经验知识”在生殖决策中有多大的价值，并因此强调和预测将遗传筛查项目扩展到没有这种知识的人可能带来的一些潜在问题。这项研究计划旨在了解经验知识在生殖决策中的作用和价值，重点关注患有脊髓性肌萎缩症的家庭。如果引入基因筛查，脊髓性肌萎缩症是一种可以检测的疾病。这是一种神经肌肉疾病，会导致不同程度的肌肉无力。据估计，人口中每40人中就有1人是脊髓性肌萎缩症的携带者，目前还没有已知的治愈方法或有效的治疗方法，所以如果发现怀孕受到影响，就会提出终止妊娠。本研究以脊髓性肌萎缩症为例，探讨了引入基因筛查的可能含义。关键的研究问题是，当人们做出有关测试和筛查的决定时，脊髓性肌萎缩症的直接经历是否重要，如果重要，又是如何重要的？只有脊髓性肌萎缩症的经验才有用吗？或者，如果这种情况与脊髓性肌萎缩症相似，但又不相同，那么经验是否可以用于生殖决策？该研究还将探索目前患有脊髓性肌萎缩症的家庭如何看待基因筛查以及其他疾病的筛查，如唐氏综合症。这项研究的结果将用于了解基因筛查的含义，无论是对患有脊髓性肌萎缩症的家庭，还是对其他疾病的家庭。特别是，它将有助于了解与筛查具有不同表现和预后（长期前景）不确定的疾病有关的社会和伦理问题。研究方案提出的问题将引起考虑采用遗传筛检所涉问题的决策者的关注和利害关系，对一般公众来说，这些问题将来将变成日常的生殖决定和困境。代表遗传病家庭的倡导和支持团体也将从参与研究提出的问题中受益，特别是在制定关于引入筛查的“立场声明”方面。最后，这项研究也将对学术界有很大的好处，为社会科学和政策研究、残疾研究、生物伦理学和医学领域做出贡献。

Developments in genetic medicine over the past 50 years have had a great impact on the number, and nature, of decisions to be made by prospective parents. In coming years, these decisions appear set to increase as the UK government considers the introduction of pre-conception and prenatal genetic screening. Pre-conception and prenatal genetic screening involves the genetic testing of couples or pregnant women to see if they are 'carriers' of a genetic disease (i.e. they do not have the condition themselves, but can pass it on). Previously, this testing was reserved only for people with a known history of genetic disease in their family, which means that they would usually be familiar with the effects of the condition. The introduction of genetic screening would mean that everyone could have tests done to see if they are carriers of genetic conditions, either before conception or after a pregnancy is established. The general public would therefore need to make decisions about being screened for conditions that they may never have experienced or heard of. Families living with genetic conditions can offer unique insights into what it's like to live with the conditions that can be screened for; their attitudes to screening, and the way in which they make decisions about using such tests can tell us about how valuable 'experiential knowledge' is in reproductive decision making, and consequently highlight and anticipate some of potential issues that extending genetic screening programmes to those without such knowledge might bring. This research programme aims to understand the role and value of experiential knowledge in reproductive decision making by focusing on families living with Spinal Muscular Atrophy. Spinal Muscular Atrophy is a condition that could be tested for if genetic screening were introduced. It is a neuromuscular condition causing varying degrees of muscle weakness. One in 40 people in the population are estimated to be carriers of Spinal Muscular Atrophy and there is no known cure or effective treatment, so if a pregnancy is found to be affected, termination is offered. This research explores the possible implications of the introduction of genetic screening, using Spinal Muscular Atrophy as an example. The key research question is whether direct experience of Spinal Muscular Atrophy is important to people when making decisions around testing and screening, and, if so, how? Is experience only useful if it is experience of Spinal Muscular Atrophy? Or, can experience be used in reproductive decision making if it is of a condition that is similar to, but not the same as, Spinal Muscular Atrophy? The research will also explore how families currently living with Spinal Muscular Atrophy feel about, and view genetic screening as well as screening for other conditions, such as Down's Syndrome. The findings of the research will be used to understand the implications of genetic screening, both for families living with Spinal Muscular Atrophy, as well as other conditions. In particular, it will facilitate an understanding of the social and ethical issues associated with screening for conditions that have variable presentations and for which prognosis (long term outlook) is uncertain.The issues raised by the research programme will be of concern and relevance to policy makers considering the implications of the introduction of genetic screening, as well as the general public for whom these issues will, in the future, translate into everyday reproductive decisions and dilemmas. Advocacy and support groups representing families living with genetic conditions will also benefit from engaging with the issues presented by the research, particularly in the development of their 'position statements' on the introduction of screening. Lastly, this research will also be of great benefit to the academic community, contributing to the fields of social science and policy research, disabilitiy studies, bioethics and medicine.