Manuel April, Brunger Fern
Faculty of Nursing, Memorial University, 300 Prince Phillip Drive, St. John's, Newfoundland and Labrador, Canada, A1B 3V6,
J Genet Couns. 2014 Dec;23(6):1045-55. doi: 10.1007/s10897-014-9733-4. Epub 2014 Jul 1.
This paper describes the experience of predictive genetic testing for Arrhythmogenic Right Ventricular Cardiomyopathy in the context of novel gene discovery. Two approaches to making the decision to engage in genetic testing were apparent: the decision to be tested either (a) develops gradually over time or (b) happens so quickly that it is felt as a "fait accompli." Six key factors that influenced the particular approach taken by the participants were identified: (1) scientific process--available and relevant predictive genetic test; (2) numerous losses or deaths within the family; (3) physical signs and symptoms of disease; (4) gender; (5) sense of relational responsibility or moral obligation to other family members; and (6) family support. This study found that at risk individuals juxtapose scientific knowledge against their experiential knowledge and the six identified factors in order to make the decision to participate in genetic testing. Recommendations include the creation of a relational space within which to provide psychological counselling and assessment for the six identified factors that shape the decision to engage in predictive genetic testing.
本文描述了在发现新基因的背景下，进行致心律失常性右室心肌病预测性基因检测的经验。做出进行基因检测决定的两种方式很明显：决定接受检测要么（a）随着时间逐渐形成，要么（b）发生得非常迅速，以至于感觉像是既成事实。确定了影响参与者采取特定方式的六个关键因素：（1）科学过程——可用且相关的预测性基因检测；（2）家族内众多的人员伤亡；（3）疾病的体征和症状；（4）性别；（5）对其他家庭成员的关系责任或道德义务感；以及（6）家庭支持。本研究发现，高危个体将科学知识与他们的经验知识以及六个已确定的因素并列起来，以便做出参与基因检测的决定。建议包括创建一个关系空间，在其中针对影响进行预测性基因检测决定的六个已确定因素提供心理咨询和评估。
