Tsao Jack W
Department of Neurology, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Rd, Room A1036, Bethesda, MD 20814, USA.
Continuum (Minneap Minn). 2013 Apr;19(2 Dementia):475-9. doi: 10.1212/01.CON.0000429170.50686.4e.
The availability of testing for identified risk genes for Alzheimer disease (AD) in patients with clinically probable AD or their at-risk family members raises important questions for the neurologist. Because the potential benefits and risks of testing vary for each patient, physicians need to evaluate whether it is appropriate on a case-by-case basis. This article outlines the testing decision process and serves as a guide to assist clinicians with associated counseling and result disclosure. Because genetic testing is relatively new and preventive and therapeutic options for AD remain limited, it is important to remain sensitive to and understand the specific challenges associated with obtaining these tests in the routine clinical setting.
在临床诊断为很可能患有阿尔茨海默病(AD)的患者或其有患病风险的家庭成员中,针对已确定的AD风险基因进行检测,这给神经科医生带来了重要问题。由于检测的潜在益处和风险因患者而异,医生需要逐案评估检测是否合适。本文概述了检测决策过程,并作为协助临床医生进行相关咨询和结果披露的指南。由于基因检测相对较新,且AD的预防和治疗选择仍然有限,因此在常规临床环境中获取这些检测时,保持对相关特定挑战的敏感性并加以理解非常重要。