Ethics Institute, Utrecht University, Heidelberglaan 8, Utrecht 3584 CS, The Netherlands.
J Med Ethics. 2010 Sep;36(9):529-33. doi: 10.1136/jme.2009.035253. Epub 2010 Jul 26.
Genetic testing practices are increasingly advancing clinical medicine. This process of 'routinisation of genetics' has been conceived as a medical and ethical problem mainly because of the assumption that non-geneticists might lack the necessary skills to provide these services. In particular, the relevant theoretical knowledge in clinical genetics is viewed as insufficient in general practitioners and physicians from other specialities. Empirical findings seem to indicate significant variations not only in theoretical but also in practical knowledge between geneticists and non-geneticists. Several fields of practical knowledge-regarding for example the focus of clinical action, the relevance of therapeutic action or the normative framework-can be identified that are or could be areas of conflict when the routinisation of genetic services proceeds. From an ethical point of view, these variations in know how and background are especially relevant whenever the respective genetic service is concerned with medical information of exceptional normative quality, such as, for example, in prenatal genetic screening and diagnosis of untreatable conditions. Here, the clinically acquired practical knowledge of the non-geneticist could be particularly misleading insofar as there is no relation to therapy and-in a narrow sense-no clinical utility to be assessed. Non-geneticists need a chance to acquire the relevant theoretical and practical knowledge in order to understand and fulfil their own duties in the respective situations in a way that secures the important rights at stake of their patients and clients.
基因检测实践越来越多地推动临床医学的发展。“基因学常规化”这一过程主要被视为一个医学和伦理问题，因为人们认为非遗传学家可能缺乏提供这些服务所需的技能。特别是，临床遗传学的相关理论知识被认为在普通医生和其他专业的医生中是不足的。实证研究结果表明，遗传学家和非遗传学家之间不仅在理论知识上，而且在实践知识上都存在显著差异。可以确定几个实践知识领域——例如，临床行动的重点、治疗行动的相关性或规范框架——当基因服务常规化进行时，这些领域可能会成为冲突的领域。从伦理的角度来看，当涉及到具有特殊规范质量的医疗信息的相关基因服务时，例如产前基因筛查和不可治疗疾病的诊断，这种知识和背景的差异尤其重要。在这种情况下，非遗传学家所获得的临床实践知识可能会产生特别大的误导，因为它与治疗无关，而且（狭义上）没有可评估的临床效用。非遗传学家需要有机会获得相关的理论和实践知识，以便在各自的情况下以确保患者和客户重要权利的方式理解并履行自己的职责。
