Marina Ritchie, Seyed Ahmad Sajjadi, Joshua D Grill
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引用次数: 0
摘要
最近,美国食品及药物管理局批准了降低淀粉样蛋白的药物,这改变了阿尔茨海默病(AD)临床实践的格局。以前,由于临床效用有限,在治疗阿尔茨海默病患者时并不推荐进行载脂蛋白 E(APOE)基因检测。随着降低淀粉样蛋白药物的出现,APOE 基因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显示,APOE 基因型与降低淀粉样蛋白药物的安全性和可能的疗效之间存在密切联系。因此,应实施包括生物标记物和基因检测在内的临床工作流程,为患者提供做出知情决定的机会,并指导临床医生进行安全监测。为了让患者及其家属了解这些检测及其结果的意义,检测前的同意、教育和咨询将是这一流程的重要方面。鉴于已获批准的降低淀粉样蛋白药物适用于轻度认知障碍或轻度痴呆且有 AD 生物标记物证据的患者,因此生物标记物检测应在基因检测之前进行,且基因检测只应在有意接受降低淀粉样蛋白药物治疗的患者中进行。同样重要的是要考虑基因检测的其他影响,包括对临床医生的负担和额外培训的需求、额外医疗服务提供者的作用以及对患者和家属的潜在挑战。
Apolipoprotein E Genetic Testing in a New Age of Alzheimer Disease Clinical Practice.
The recent FDA approval of amyloid-lowering drugs is changing the landscape of Alzheimer disease (AD) clinical practice. Previously, apolipoprotein E (APOE) genetic testing was not recommended in the care of people with AD because of limited clinical utility. With the advent of amyloid-lowering drugs, APOE genotype will play an important role in guiding treatment recommendations. Recent clinical trials have reported strong associations between APOE 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.
期刊介绍:
Neurology® Genetics is an online open access journal publishing peer-reviewed reports in the field of neurogenetics. The journal publishes original articles in all areas of neurogenetics including rare and common genetic variations, genotype-phenotype correlations, outlier phenotypes as a result of mutations in known disease genes, and genetic variations with a putative link to diseases. Articles include studies reporting on genetic disease risk, pharmacogenomics, and results of gene-based clinical trials (viral, ASO, etc.). Genetically engineered model systems are not a primary focus of Neurology® Genetics, but studies using model systems for treatment trials, including well-powered studies reporting negative results, are welcome.