Ballard L M, Doheny S, Dimond R, Lucassen A M, Clarke A J
Clinical Ethics, Law & Society (CELS), Primary Care, Population Sciences and Medical Education, Aldermoor Health Centre, Aldermoor Close, Southampton, UK.
Institute of Medical Genetics, Division of Cancer & Genetics, School of Medicine, Cardiff University, Cardiff, UK.
J Genet Couns. 2025 Feb;34(1):e1911. doi: 10.1002/jgc4.1911. Epub 2024 May 13.
Ambivalence and uncertainty are key themes throughout the psychology of healthcare literature. This is especially so for individuals at risk of Huntington's disease (HD) deliberating the decision to undergo genetic testing because there is currently no treatment that modifies disease progression. A better understanding of the experience of making a decision about genetic prediction will help practitioners support and guide individuals through this process. Our aim was to capture participants' experiences of uncertainty and ambivalence in between their genetic counseling appointments. We explored these issues through the experiences of nine participants who were referred for predictive HD testing at four regional genetics services in England and Wales. Data consisted of recordings of clinic consultations, diaries, and an in-depth interview conducted at the end of the testing process. Data were analyzed thematically. Four themes were identified representing four possible futures, each future dependent on the decision to undergo testing and the result of that test. Our results showed that participants, as well as attending more to a future that represents their current situation of not having undergone predictive testing, also attended more to a distant future where a positive predictive result is received and symptoms have started. Participants attended less to the two futures that were more immediate once testing was undertaken (a future where a positive result is received and symptoms have not started and a future where a negative result is received). The use of diaries gave us a unique insight into these participants' experiences of ambivalence and uncertainty, psychological distress, and the emotional burden experienced. These findings help inform discussions within the clinic appointment as well as encourage researchers to consider diary use as a method of exploring what happens for individuals outside of clinical encounters.
矛盾心理和不确定性是整个医疗保健心理学文献中的关键主题。对于有患亨廷顿舞蹈症（HD）风险的个体来说，在考虑是否接受基因检测时尤其如此，因为目前尚无能够改变疾病进展的治疗方法。更好地理解做出基因预测决策的经历，将有助于从业者在这一过程中支持和引导个体。我们的目的是捕捉参与者在基因咨询预约之间的不确定性和矛盾心理体验。我们通过九名参与者的经历来探讨这些问题，他们被转介到英格兰和威尔士的四个地区基因服务机构进行HD预测性检测。数据包括临床会诊记录、日记以及检测过程结束时进行的深度访谈。对数据进行了主题分析。确定了四个主题，分别代表四种可能的未来，每种未来都取决于是否接受检测的决定及其检测结果。我们的结果表明，参与者除了更多地关注代表他们目前未进行预测性检测情况的未来之外，还更多地关注遥远的未来，即检测结果呈阳性且症状已经出现的未来。参与者较少关注检测后更直接的两种未来（检测结果呈阳性但症状尚未出现的未来以及检测结果呈阴性的未来）。日记的使用让我们对这些参与者的矛盾心理和不确定性体验、心理困扰以及所经历的情感负担有了独特的见解。这些发现有助于在临床预约中进行讨论，也鼓励研究人员将日记的使用作为一种探索个体在临床接触之外所发生情况的方法。
