Carriers: genetic knowledge and the emergence of a new biosocial identity

该研究项目侧重于扩展载体筛查(ECS)的社会背景、含义和影响，ECS是近年来出现的一种基因技术。ECS旨在为希望生育的夫妇提供信息，最好是在怀孕前，了解他们是否都携带相同的隐性遗传且通常是罕见的疾病的基因变异，这意味着他们都是“携带者”。在这种情况下，这对夫妇中的每个孩子都有25%的机会从父母双方那里遗传与疾病相关的变异，而携带者本身没有症状，也没有受到这种疾病影响的风险。鉴于几乎所有人类都被认为是至少一个隐性基因变异的携带者，整个人群成为ECS的目标群体。ECS由商业实验室开发，自2009年以来通过互联网直接提供给消费者。在该项目中，分析了如何通过在商业营销以及医学和生物伦理话语中将特定的风险、责任和代理归因于传播者这一新兴的社会类别。此外，还调查了这种框架在多大程度上被个人或夫妇的自我解释所采用、修改或拒绝。有证据表明，人们很少从身份的角度理解推定承运人的事实，而是将其与承担高度性别和主观化的责任联系在一起，这些责任被认为是承运人地位的结果。然而，到目前为止，对没有症状和甚至在怀孕前就没有遗传病家族史的个人或夫妇进行测试的目的似乎满足了目标群体缺乏兴趣的问题。因此，“成功地”激励目标群体的策略对于ECS的接受及其社会效果都是至关重要的。需要来自两个最新发展的额外研究结果，这两个发展都能够显著改变ECS目前的基于市场的特征。2015年左右开始的关于公共卫生服务中“负责任的”和“成功实施”ECS的国际辩论，以及将携带者筛查与其他生殖或基因技术相结合的同时趋势和努力，都可能产生有针对性的沟通、责任承担和性别不对称的新形式。因此，分析这些动态将对项目的研究重点起到至关重要的补充和补充作用。此外，它还将为在不久的将来可能在德国提出的关于实施ECS的讨论提供重要的见解。

The research project focuses on the social contexts, implications and effects of expanded carrier screening (ECS), a genetic technology which emerged in recent years. ECS aims at providing couples, who wish to have children, with information, ideally prior to a pregnancy, whether both of them carry the genetic variant for the same recessively inheritable and usually rare condition, which means that both of them are „carriers“. In this case each child of the couple would have a 25 percent chance of inheriting the disease-related variant from both parents, whereas the carriers themselves are asymptomatic and not at risk of being affected by the condition. Given the fact that almost all humans are held to be carriers of at least one recessive genetic variant, the whole population becomes the target group of ECS.ECS has been developed by commercial laboratories and, since 2009, is offered directly to consumers via the internet. In the project it was analysed how the emerging social category of carriers is shaped by ascribing specific risks, responsibilities and agency to them in commercial marketing as well as in medical and bioethical discourse. In addition, it was investigated to what extent such framings are adopted, modified or rejected in self-interpretations of individuals or couples. There is evidence that the fact of being a putative carrier is rarely understood in terms of an identity but rather linked to assuming highly gendered and subjectifying responsibilities which are held to result from carrier status. However, the aim of testing individuals or couples who are asymptomatic and do not have a family history of genetic disease even prior to pregnancy to date appears to meet a lack of interest among the target group. Therefore, strategies of „successfully“ motivating the target group are crucial both for the uptake of ECS and its social effects.The need for additional research results from two recent developments which both are able to substantially transform the current market-based features of ECS. Both the international debates on „responsible“ and „successful implementation“ of ECS in public health services which have started around 2015 and the simultaneous tendencies and efforts to combine carrier screening with other reproductive or genetic technologies are likely to produce novel forms of targeted communication, responsibilisation and gender asymmetries. Analysing these developments will therefore add to and complement the project’s research focus in a crucial manner. Moreover, it will also provide important insights for discussions on the implementation of ECS which might come up in the near future in Germany as well.