Jacobs L A, Deatrick J A
University of Pennsylvania, Philadelphia, USA.
J Prof Nurs. 1999 Sep-Oct;15(5):313-24. doi: 10.1016/s8755-7223(99)80057-x.
Genetics plays a role in every disease, yet few health care providers understand basic genetic principles or the science underlying the genetic testing process. An understanding of the science behind genetic advances is necessary, and it is equally important for health professionals to have an understanding of the complex nature of genetic testing for individuals and their families. Much of the debate about the psychological effects of genetic testing has occurred in the absence of empirical data on diseases for which predictive testing has only recently emerged. This article will review selected literature on genetic testing and its implications for the individual and the family. The responses of families and individuals to the diagnosis of a genetic disease will be reviewed, and Huntington disease will be used as the paradigm for examining issues related to genetic testing for adult-onset cancers. Literature addressing the response to genetic susceptibility for adult-onset cancers and the implications of testing children also will be explored. Finally, identification of emerging issues relevant to genetic screening will provide a framework for identifying needed nursing research in genetic testing for adult-onset cancer risk.
遗传学在每种疾病中都发挥着作用，但很少有医疗保健提供者了解基本的遗传原理或基因检测过程背后的科学。了解基因进展背后的科学是必要的，同样重要的是，健康专业人员要理解基因检测对个人及其家庭的复杂性。关于基因检测心理影响的许多争论都是在缺乏针对预测性检测才刚刚出现的疾病的实证数据的情况下发生的。本文将回顾有关基因检测及其对个人和家庭影响的部分文献。将回顾家庭和个人对遗传性疾病诊断的反应，并将亨廷顿舞蹈病作为检查与成人发病癌症基因检测相关问题的范例。还将探讨有关对成人发病癌症基因易感性的反应以及检测儿童的影响的文献。最后，确定与基因筛查相关的新出现问题将为确定成人发病癌症风险基因检测中所需的护理研究提供一个框架。
