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

该研究项目主要关注近年来兴起的基因技术——扩展载体筛选（ECS）的社会背景、影响和影响。ECS旨在为想要孩子的夫妇提供信息，最好是在怀孕前，了解他们是否携带相同隐性遗传且通常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，这对夫妇的每个孩子都有25%的机会从父母身上遗传到与疾病相关的变异，而携带者本身是无症状的，没有被这种疾病影响的风险。鉴于几乎所有人都被认为是至少一种隐性遗传变异的携带者，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，通过互联网直接向消费者提供。在该项目中，分析了在商业营销以及医学和生物伦理论述中，如何通过将特定风险、责任和代理归因于新兴的社会载体类别来塑造它们。此外，还调查了这些框架在个人或夫妇的自我解释中被采用、修改或拒绝的程度。有证据表明，作为一个假定的载体的事实很少被理解为一种身份，而是与承担高度性别化和主体化的责任有关，这些责任被认为是由载体地位造成的。然而，检测无症状的个人或夫妇，甚至在怀孕前至今没有遗传病的家族史，似乎满足了目标群体缺乏兴趣的目的。因此，“成功地”激励目标群体的策略对于教育行为的吸收及其社会效应都至关重要。需要从最近的两个发展中获得额外的研究结果，这两个发展都能够大大改变当前ECS的市场特征。2015年前后开始的关于在公共卫生服务中“负责任”和“成功实施” ECS的国际辩论，以及同时将携带者筛查与其他生殖或遗传技术结合起来的趋势和努力，都可能产生新的形式的有针对性的沟通、责任和性别不对称。因此，分析这些发展将以一种至关重要的方式增加和补充该项目的研究重点。此外，它还将为讨论ECS的实施提供重要的见解，这可能在不久的将来在德国也会出现。

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.