Eichinger J, Elger B S, McLennan S, Filges I, Koné I
Institute for Biomedical Ethics, University of Basel, Bernoullistrasse 28, 4056, Basel, Switzerland.
Center for legal medicine (CURML), University of Geneva, Rue Michel-Servet 1, 1211, 4, Geneva, Switzerland.
J Bioeth Inq. 2024 Dec;21(4):711-722. doi: 10.1007/s11673-024-10355-x. Epub 2024 Jul 22.
The principle of non-directiveness remains an important tenet in genetics. However, the concept has encountered growing criticism over the last two decades. There is an ongoing discussion about its appropriateness for specific situations in genetics, especially in light of recent significant advancements in genetic medicine. Despite the debate surrounding non-directiveness, there is a notable lack of up-to-date international research empirically investigating the issue from the perspective of those who actually do genetic counselling. Addressing this gap, our article delves into the viewpoints and experiences of medical geneticists in Germany and Switzerland. Twenty qualitative interviews were analysed employing reflexive thematic analysis. Participants' responses revealed substantial uncertainties and divergences in their understanding and application of the concept. It seems to cause distress since many geneticists stated that the principle was difficult to put into clinical practice and was no longer ethically justified given the increasing likelihood of therapeutic implications resulting from genomic testing outcomes. The insights provided by our qualitative empirical study accord with the ongoing theoretical debate regarding the definition, legitimacy, and feasibility of the principle. An adequately nuanced understanding and application of non-directiveness seems crucial to circumvent the risks inherent in the principle, while promoting patient autonomy and beneficence.
非指导性原则仍是遗传学中的一项重要原则。然而，在过去二十年里，这一概念受到了越来越多的批评。关于其在遗传学特定情况下的适用性，尤其是鉴于基因医学最近的重大进展，目前仍在进行讨论。尽管围绕非指导性原则存在争议，但明显缺乏从实际从事遗传咨询工作的人员角度对该问题进行实证研究的最新国际研究。为填补这一空白，我们的文章深入探讨了德国和瑞士医学遗传学家的观点和经验。我们采用反思性主题分析法对20次定性访谈进行了分析。参与者的回答显示，他们在对这一概念的理解和应用上存在很大的不确定性和分歧。这似乎会造成困扰，因为许多遗传学家表示，鉴于基因组检测结果带来治疗意义的可能性越来越大，该原则难以付诸临床实践，且在伦理上也不再合理。我们的定性实证研究提供的见解与关于该原则的定义、合理性和可行性的 ongoing 理论辩论一致。对非指导性原则进行充分细致入微的理解和应用，对于规避该原则所固有的风险、同时促进患者自主性和行善原则似乎至关重要。 （注：原文中“ongoing”未翻译完整，可补充完整意思后再调整译文表述，但按要求不添加解释说明，此处保留原样供参考）
