University of Twente, Faculty of Behavioural Science, Department of Philosophy, Enschede, Netherlands.
Soc Sci Med. 2011 Jun;72(11):1793-801. doi: 10.1016/j.socscimed.2010.06.011. Epub 2010 Jun 25.
It has been frequently acknowledged that results of predictive genetic tests may have implications for relatives as well as for the individual client. Ethicists have noted that an individual's right to know her genetic risk may conflict with a relative's right not to know this risk. It is hardly recognised, however, that family members may have a role in the production of test results as well. This article reconstructs the actual process of predictive BRCA-testing in the Netherlands, with a special focus on the roles assigned to clients and families and the expectations about family relationships inscribed in this practice. Fieldwork was carried out in an outpatient clinic for clinical genetics in an academic hospital. Data collection included 11 interviews with members of families, observations of counselling interviews between research participants and their clinical geneticist, and interviews with the 2 clinical geneticists involved in the consultations. It compares this process to the American practice of BRCA-testing. Whereas Dutch practice presupposes active involvement of diseased relatives in the testing process, American practice constitutes the client primarily as an independent individual who may or may not decide to involve her relatives. Moreover, Dutch clients are expected to have a harmonious, open and communicative relationship with their relatives. The American client, in contrast, is supposed to have more distant family relationships. It is argued that an interpretation of these differences in terms of 'the right to know' and 'the right not to know' misses the point, because the production of informative test results depends on the cooperation of relatives. The differences between Dutch and American practice are more adequately interpreted as implying a preference for unambiguous test results versus a preference for individual independence. The paper shows what is lost when opting for one value at the cost of another and discusses several alternatives to circumvent the value conflict at stake. By opening up for discussion the values implicit in BRCA-testing practices, the paper aims to contribute to debates on the overall desirability of these practices.
人们普遍认识到，预测性基因检测的结果不仅会对个体客户产生影响，还可能对其亲属产生影响。伦理学家指出，个人了解自身遗传风险的权利可能与亲属不了解这种风险的权利相冲突。然而，几乎没有人认识到，家庭成员在产生检测结果方面也可能发挥作用。本文重构了荷兰实际进行的预测性 BRCA 检测过程，特别关注分配给客户和家庭的角色，以及这种实践中所包含的对家庭关系的期望。实地工作是在一家学术医院的临床遗传学门诊进行的。数据收集包括对 11 个家庭的成员进行访谈、观察研究参与者及其临床遗传学家之间的咨询访谈，以及对参与咨询的 2 名临床遗传学家进行访谈。本文将这一过程与美国的 BRCA 检测实践进行了比较。荷兰的实践假设患病亲属积极参与检测过程，而美国的实践则将客户主要视为一个可能会或可能不会决定让其亲属参与的独立个体。此外，荷兰客户被期望与亲属保持和谐、开放和富有沟通性的关系。相比之下，美国客户的家庭关系则被认为更为疏远。有人认为，用“知情权”和“拒绝知情权”来解释这些差异是没有意义的，因为产生有信息价值的检测结果取决于亲属的合作。荷兰和美国实践之间的差异更适合解释为，一种偏好明确的检测结果，另一种偏好个体的独立性。本文展示了当选择一个价值而牺牲另一个价值时会失去什么，并讨论了几种替代方案来规避相关的价值冲突。通过公开讨论 BRCA 检测实践中隐含的价值观，本文旨在为这些实践的整体可取性的辩论做出贡献。
