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阿尔茨海默病临床实践新时代的载脂蛋白E基因检测

Apolipoprotein E Genetic Testing in a New Age of Alzheimer Disease Clinical Practice.

作者信息

Ritchie Marina, Sajjadi Seyed Ahmad, Grill Joshua D

机构信息

UC Irvine Institute for Memory Impairments and Neurological Disorders (MR, SAS); Department of Neurobiology and Behavior (MR); Department of Neurology (SAS); and Department of Psychiatry and Human Behavior, University of California, Irvine.

出版信息

Neurol Clin Pract. 2024 Apr;14(2):e200230. doi: 10.1212/CPJ.0000000000200230. Epub 2024 Jan 5.

Abstract

The recent FDA approval of amyloid-lowering drugs is changing the landscape of Alzheimer disease (AD) clinical practice. Previously, genetic testing was not recommended in the care of people with AD because of limited clinical utility. With the advent of amyloid-lowering drugs, genotype will play an important role in guiding treatment recommendations. Recent clinical trials have reported strong associations between genotype and the safety and possibly the efficacy of amyloid-lowering drugs. Therefore, a clinical workflow that includes biomarker and genetic testing should be implemented to provide patients with the opportunity to make informed decisions and instruct safety monitoring for clinicians. Pretest consent, education, and counseling will be an essential aspect of this process for patients and their family members to understand the implications of these tests and their results. Given that the approved amyloid-lowering drugs are indicated for patients with mild cognitive impairment or mild dementia with biomarker evidence of AD, biomarker testing should be performed before genetic testing and genetic testing should only be performed in patients interested in treatment with amyloid-lowering drugs. It is also important to consider other implications of genetic testing, including burden on and need for additional training for clinicians, the role of additional providers, and the potential challenges for patients and families.

摘要

美国食品药品监督管理局(FDA)近期对降低淀粉样蛋白药物的批准正在改变阿尔茨海默病(AD)临床实践的格局。以前,由于临床效用有限,不建议在AD患者的护理中进行基因检测。随着降低淀粉样蛋白药物的出现,基因类型将在指导治疗建议方面发挥重要作用。最近的临床试验报告了基因类型与降低淀粉样蛋白药物的安全性以及可能的疗效之间的密切关联。因此,应实施包括生物标志物和基因检测在内的临床工作流程,为患者提供做出明智决策的机会,并指导临床医生进行安全监测。检测前的同意、教育和咨询将是这一过程的重要方面,以便患者及其家属了解这些检测及其结果的含义。鉴于已批准的降低淀粉样蛋白药物适用于有AD生物标志物证据的轻度认知障碍或轻度痴呆患者,应在基因检测之前进行生物标志物检测,并且基因检测仅应在有兴趣接受降低淀粉样蛋白药物治疗的患者中进行。考虑基因检测的其他影响也很重要,包括对临床医生的负担和额外培训的需求、其他医疗服务提供者的作用以及对患者和家庭的潜在挑战。

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