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遗传咨询作为2型糖尿病预防的工具:常见多基因疾病的遗传咨询框架

Genetic counseling as a tool for type 2 diabetes prevention: a genetic counseling framework for common polygenetic disorders.

作者信息

Waxler Jessica L, O'Brien Kelsey E, Delahanty Linda M, Meigs James B, Florez Jose C, Park Elyse R, Pober Barbara R, Grant Richard W

机构信息

Department of Pediatrics, Massachusetts General Hospital, Boston, USA.

出版信息

J Genet Couns. 2012 Oct;21(5):684-91. doi: 10.1007/s10897-012-9486-x.

Abstract

Advances in genetic epidemiology have increased understanding of common, polygenic preventable diseases such as type 2 diabetes. As genetic risk testing based on this knowledge moves into clinical practice, we propose that genetic counselors will need to expand their roles and adapt traditional counseling techniques for this new patient set. In this paper, we present a genetic counseling intervention developed for a clinical trial [Genetic Counseling/Lifestyle Change for Diabetes Prevention, ClinicalTrials.gov identifier: NCT01034319] designed to motivate behavioral changes for diabetes prevention. Seventy-two phenotypically high-risk participants received counseling that included their diabetes genetic risk score, general education about diabetes risk factors, and encouragement to participate in a diabetes prevention program. Using two validated genetic counseling scales, participants reported favorable perceived control and satisfaction with the counseling session. Our intervention represents one model for applying traditional genetic counseling principles to risk testing for polygenetic, preventable diseases, such as type 2 diabetes.

摘要

遗传流行病学的进展加深了人们对常见的多基因可预防疾病(如2型糖尿病)的理解。随着基于这一知识的遗传风险检测进入临床实践,我们认为遗传咨询师将需要扩大其角色,并针对这一新的患者群体调整传统的咨询技巧。在本文中,我们介绍了一种为一项临床试验[预防糖尿病的遗传咨询/生活方式改变,ClinicalTrials.gov标识符:NCT01034319]开发的遗传咨询干预措施,该试验旨在激发预防糖尿病的行为改变。72名表型高危参与者接受了咨询,内容包括他们的糖尿病遗传风险评分、关于糖尿病风险因素的一般教育,以及参加糖尿病预防计划的鼓励。使用两个经过验证的遗传咨询量表,参与者报告了对咨询过程的良好控制感和满意度。我们的干预措施代表了一种将传统遗传咨询原则应用于多基因可预防疾病(如2型糖尿病)风险检测的模式。

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