Maastricht University, Faculty of Health, Medicine and Life Sciences, Health, Ethics & Society, Research Institutes GROW and CAPHRI, Maastricht, the Netherlands.
Clin Genet. 2010 Jan;77(1):10-7. doi: 10.1111/j.1399-0004.2009.01312.x.
Although a scientific and ethical debate about the possible reproductive options for carriers of mitochondrial DNA (mtDNA) mutations is developing, not much information regarding the views and experiences of professionals exists. This paper explores the attitudes and experiences of professionals involved on a daily basis with their patients' reproductive decision-making in the context of mtDNA disease. Qualitative international multicenter design using in-depth semi-structured interviews with 20 professionals has been utilized. We identified four main themes emerging from the interviews. Firstly, we illustrate the discussion among professionals as to what extent mitochondrial genetics differs from other areas in genetics, both technically and ethically. Secondly, we show the discomfort and doubts of professionals when an mtDNA mutation is involved, because of the uncertainty remaining after testing. Thirdly, we discuss how professionals struggle with the tension between, on the one hand, the ideal of reproductive autonomy and, on the other hand, the reality of their professional responsibility and complex clinical decision-making. Fourthly, we delineate the strategies used by professionals in order to make attempts to control uncertainty. This paper illustrates the impact on professionals of reproductive decision-making in the context of mtDNA disease. It shows their feelings of discomfort when interpreting and explaining uncertain or ambiguous data and may be perceived as an example of how professionals deal with the inherent limitations in genetic knowledge representing the state of the art. Insight into the experiences of professionals may contribute to a further improvement of reproductive genetic counseling in the context of mtDNA disorders.
虽然关于线粒体 DNA（mtDNA）突变携带者可能的生殖选择存在科学和伦理方面的争论，但关于专业人士的观点和经验的信息并不多。本文探讨了在 mtDNA 疾病背景下，每天参与患者生殖决策的专业人士的态度和经验。采用国际定性多中心设计，使用 20 名专业人员的深入半结构化访谈。我们从访谈中确定了四个主要主题。首先，我们说明了专业人员之间的讨论，即在技术和伦理方面，线粒体遗传学与遗传学的其他领域在多大程度上有所不同。其次，我们展示了专业人员在涉及 mtDNA 突变时的不适感和疑虑，因为检测后仍存在不确定性。第三，我们讨论了专业人员如何在生殖自主权的理想与他们的专业责任和复杂临床决策的现实之间的紧张关系中挣扎。第四，我们描述了专业人员用来控制不确定性的策略。本文说明了 mtDNA 疾病生殖决策对专业人员的影响。它展示了他们在解释和解释不确定或模棱两可的数据时的不适感，并且可能被视为专业人员如何处理遗传知识固有局限性的一个例子，这种局限性代表了最新技术水平。深入了解专业人员的经验可能有助于进一步改进 mtDNA 疾病生殖遗传咨询。
