Roses A D
Department of Medicine (Neurology), Joseph and Kathleen Bryan Alzheimer's Disease, Research Center, Duke University Medical Center, Durham, North Carolina 27710, USA.
Ann N Y Acad Sci. 1996 Dec 16;802:50-7. doi: 10.1111/j.1749-6632.1996.tb32598.x.
The Alzheimer's Association and the National Institute on Aging sponsored a meeting of experts in Alzheimer's disease (AD), geneticists, social scientists, and ethicists in Chicago in October 1995 to discuss the use of apolipoprotein E (APOE) genotyping in Alzheimer's disease. A short scientific report was published in the scientific journal Lancet with recommendations from the group. Several areas were discussed, including: (1) the scientific basis for recommendations on the application and uses of APOE genotyping, (2) clarifying the clinical and epidemiological research that needs to done, (3) genetic counseling issues, (4) ethical and legal issues, and (5) potential uses of APOE genotyping for treatment care planning. This contribution was a general introduction to begin the meeting. The genetic association of APOE genotypes with the age of onset distribution and risk of Alzheimer's disease was reviewed. An analysis of the current applications for three distinctly different applications of APOE genotyping was presented with the following conclusions: (1) predictive testing for cognitively intact persons was not recommended; (2) APOE genotyping is a promising adjunct for use in the differential diagnosis of patients with dementia; and (3) APOE genotyping may have a use in selecting therapies; however, further prospective studies are necessary. There is no universal "APOE test for AD." A strong emphasis was made to avoid use of the term in making recommendations regarding APOE genotyping without specific reference to the type of application involved. The predictive testing of asymptomatic persons versus APOE genotyping as a diagnostic adjunct for symptomatic patients has been seriously confused in both the lay and clinical press. The former application is not recommended, but diagnostic usefulness early in clinical evaluations for dementia has been confirmed.
1995年10月,阿尔茨海默病协会和美国国立衰老研究所赞助了一场在芝加哥召开的会议,参会人员包括阿尔茨海默病(AD)专家、遗传学家、社会科学家和伦理学家,旨在讨论载脂蛋白E(APOE)基因分型在阿尔茨海默病中的应用。该小组的建议发表在科学期刊《柳叶刀》上的一篇简短科学报告中。会议讨论了几个领域,包括:(1)关于APOE基因分型应用和用途建议的科学依据;(2)明确需要开展的临床和流行病学研究;(3)遗传咨询问题;(4)伦理和法律问题;(5)APOE基因分型在治疗护理规划中的潜在用途。本稿件是本次会议的总体介绍。回顾了APOE基因型与阿尔茨海默病发病年龄分布及风险的遗传关联。针对APOE基因分型三种截然不同的应用的当前应用情况进行了分析,并得出以下结论:(1)不建议对认知功能正常的人进行预测性检测;(2)APOE基因分型是用于痴呆患者鉴别诊断的一种有前景的辅助手段;(3)APOE基因分型可能在选择治疗方法方面有用;然而,还需要进一步的前瞻性研究。不存在通用的“AD的APOE检测”。强烈强调在就APOE基因分型提出建议时,若未具体提及所涉及的应用类型,应避免使用该术语。无症状者的预测性检测与作为有症状患者诊断辅助手段的APOE基因分型在大众媒体和临床报道中都被严重混淆了。不建议进行前一种应用,但已证实其在痴呆临床评估早期具有诊断价值。