遗传测试决策中的启发式方法使用：一项定性访谈研究。
The use of heuristics in genetic testing decision-making: A qualitative interview study.
机构信息
Institute for Biomedical Ethics, University of Basel, Basel, Switzerland.
Institute of History and Ethics in Medicine, School of Medicine, Technical University of Munich, Munich, Germany.
出版信息
PLoS One. 2021 Nov 30;16(11):e0260597. doi: 10.1371/journal.pone.0260597. eCollection 2021.
BACKGROUND
Decision-making concerning predictive genetic testing for hereditary cancer syndromes is inherently complex. This study aims to investigate what kind of complexities adults undergoing genetic counseling in Switzerland experience, how they deal with them, and what heuristics they use during the decision-making process.
METHODS
Semi-structured qualitative interviews with eighteen Swiss adults seeking genetic counseling for hereditary cancer syndrome genetic testing and two counseling physicians were conducted and analyzed using a grounded theory approach.
RESULTS
Counselees stated that once they were aware of their eligibility for genetic testing they perceived an inevitable necessity to make a decision in a context of uncertainties. Some counselees perceived this decision as simple, others as very complex. High emotional involvement increased perceived complexity. We observed six heuristics that counselees used to facilitate their decision: Anticipating the test result; Focusing on consequences; Dealing with information; Interpreting disease risk; Using external guidance; and (Re-)Considering the general uncertainty of life.
LIMITATIONS
Our findings are limited to the context of predictive genetic testing for hereditary cancer syndromes. This qualitative study does not allow extrapolation of the relative frequency of which heuristics occur.
CONCLUSIONS
The use of heuristics is an inherent part of decision-making, particularly in the complex context of genetic testing for inherited cancer predisposition. However, some heuristics increase the risk of misinterpretation or exaggerated external influences. This may negatively impact informed decision-making. Thus, this study illustrates the importance of genetic counselors and medical professionals being aware of these heuristics and the individual manner in which they might be applied in the context of genetic testing decision-making. Findings may offer practical support to achieve this, as they inductively focus on the counselees' perspective.
背景
遗传性癌症综合征预测性基因检测的决策具有内在的复杂性。本研究旨在调查瑞士接受基因咨询的成年人经历了哪些复杂性，他们如何应对这些复杂性，以及他们在决策过程中使用了哪些启发式方法。
方法
对 18 名瑞士成年人进行了半结构化定性访谈，这些成年人正在接受遗传性癌症综合征基因检测的基因咨询，另外还对 2 名咨询医生进行了访谈，并使用扎根理论方法进行了分析。
结果
被咨询者表示，一旦他们意识到自己有资格进行基因检测，他们就会在不确定的情况下，不可避免地需要做出决定。一些被咨询者认为这个决定很简单，而另一些则认为非常复杂。高情感投入增加了感知的复杂性。我们观察到被咨询者使用了六种启发式方法来帮助他们做出决策：预测测试结果；关注后果；处理信息；解释疾病风险；利用外部指导；以及（重新）考虑生活的普遍不确定性。
局限性
我们的研究结果仅限于遗传性癌症综合征预测性基因检测的背景。这项定性研究不允许推断启发式方法出现的相对频率。
结论
启发式方法是决策的固有组成部分，特别是在遗传性癌症易感性基因检测的复杂背景下。然而，一些启发式方法增加了误解或夸大外部影响的风险。这可能会对知情决策产生负面影响。因此，本研究说明了遗传咨询师和医疗专业人员意识到这些启发式方法以及它们在基因检测决策中的个人应用方式的重要性。研究结果可能会为实现这一目标提供实际支持，因为它们从被咨询者的角度出发进行了归纳。
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