Abstract:
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.
摘要:
非指向性原则仍然是遗传学的重要原则。然而,在过去的二十年里,这个概念受到了越来越多的批评。关于它在遗传学中的具体情况的适当性正在进行讨论,特别是考虑到基因医学最近的重大进步。尽管围绕非指导性的争论,明显缺乏最新的国际研究,从实际从事遗传咨询的人的角度对这一问题进行实证调查。解决这个差距,我们的文章探讨了德国和瑞士医学遗传学家的观点和经验。采用反身性主题分析对20次定性访谈进行了分析。参与者的回答显示,他们在理解和应用这一概念方面存在很大的不确定性和分歧。这似乎引起了困扰,因为许多遗传学家指出,由于基因组测试结果导致的治疗影响的可能性越来越大,该原则难以付诸实践,并且在道德上不再是合理的。我们的定性实证研究提供的见解与正在进行的关于定义的理论辩论一致,合法性,原则的可行性。对非指向性的充分细致的理解和应用似乎对于规避该原则固有的风险至关重要,同时促进患者的自主性和仁慈。