遗传咨询的定义和目标

B. Biesecker, K. Peters, R. Resta
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引用次数: 0

摘要

遗传咨询的定义已经从禁止发展到患者教育,促进知情决策和适应风险或条件的三驾马车。这一定义得到了美国国家遗传咨询师协会的认可,在全球研究生培训中被广泛引用和使用。尽管遗传咨询师的角色取得了重大进展,但咨询的核心原则仍然存在。我们的实践模式以前被描述为心理教育,但已经发展到心理治疗,强调关系咨询。遗传咨询的目标是具体的,因亚专业而异,并随着基因组科学的进步而发展。在癌症领域,大部分遗传咨询都是关于癌症风险和预测测试的潜在价值,以告知选择,而在儿科领域,目标是诊断或确定儿童疾病的原因。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Definitions and Goals of Genetic Counseling
The definition of genetic counseling has evolved from being proscriptive to the triumvirate of patient education, facilitating informed decision making, and adaptation to a risk or condition. This definition, endorsed by the National Society of Genetic Counselors, has been widely cited and used in graduate training around the globe. Despite significant advances in the roles of genetic counselors, the central tenets of counseling remain. Our practice model was previously described as psychoeducational but has evolved to psychotherapeutic to emphasize relational counseling. The goals of genetic counseling are specific, vary by subspecialty, and evolve with advances in genomic science. In the cancer setting much of genetic counseling is about cancer risk and the potential value of predictive testing to inform choices, whereas in the pediatric setting, the goal is to diagnose or determine a cause for a child’s condition.
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