• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

相似文献

1
Genetic testing and early diagnosis and intervention: boon or burden?基因检测与早期诊断及干预:是福音还是负担?
J Med Ethics. 1996 Apr;22(2):105-10. doi: 10.1136/jme.22.2.105.
2
Genetic screening and ethics: European perspectives.
J Med Philos. 1998 Jun;23(3):255-73. doi: 10.1076/jmep.23.3.255.2580.
3
Screening for fetal and genetic abnormality.胎儿及基因异常筛查。
Lancet. 1987 Dec 12;2(8572):1408.
4
Presymptomatic diagnosis: a first step toward genetic health care.症状前诊断:迈向基因医疗保健的第一步。
Science. 1993 Oct 1;262(5130):48-9. doi: 10.1126/science.8211129.
5
Genetic screening: a comparative analysis of three recent reports.基因筛查:三份近期报告的比较分析
J Med Ethics. 1997 Jun;23(3):135-41. doi: 10.1136/jme.23.3.135.
6
Newborn health screenings.新生儿健康筛查。
NCSL Legisbrief. 2012 Dec;20(47):1-2.
7
Genetic engineering: moral aspects and control of practice.基因工程:道德层面与实践管控
J Assist Reprod Genet. 1997 Jul;14(6):297-316. doi: 10.1007/BF02765833.
8
Tomorrow's prenatal genetic testing. Should we test for 'minor' diseases?明天的产前基因检测。我们应该检测“轻微”疾病吗?
Arch Fam Med. 1993 Nov;2(11):1187-93. doi: 10.1001/archfami.2.11.1187.
9
Reproductive genetic testing and the ethics of parenting.生殖基因检测与为人父母的伦理问题。
Fetal Diagn Ther. 1993 Apr;8(Suppl. 1):142-7. doi: 10.1159/000263881.
10
Genetic testing.
Radiology. 2002 Aug;224(2):316-9. doi: 10.1148/radiol.2242020343.

引用本文的文献

1
Genetic advances: great promise tempered with concern.基因进展:充满巨大希望但也令人担忧。
Br J Gen Pract. 1997 Sep;47(422):544-5.
2
Funding research in primary care: is Culyer the remedy?为初级医疗保健研究提供资金:库利尔是解决之道吗?
Br J Gen Pract. 1997 Sep;47(422):543-4.

本文引用的文献

1
The right to health in international human rights law.国际人权法中的健康权。
Health Hum Rights. 1994 Fall;1(1):24-56.
2
Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium.家族性乳腺癌和卵巢癌的基因连锁分析:来自214个家庭的结果。乳腺癌连锁协会。
Am J Hum Genet. 1993 Apr;52(4):678-701.
3
The last well person.最后一个健康的人。
N Engl J Med. 1994 Feb 10;330(6):440-1. doi: 10.1056/NEJM199402103300618.
4
Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium.携带BRCA1基因突变者患癌风险。乳腺癌连锁协会。
Lancet. 1994 Mar 19;343(8899):692-5. doi: 10.1016/s0140-6736(94)91578-4.
5
Ethical issues in genetic screening and antenatal diagnosis.基因筛查和产前诊断中的伦理问题。
Clin Obstet Gynecol. 1981 Dec;24(4):1151-68. doi: 10.1097/00003081-198112000-00012.
6
A private view of heterozygosity: eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in Montreal.杂合性的个体观察:对在蒙特利尔高中筛查中检测出的泰-萨克斯基因携带者的八年随访研究
Am J Med Genet. 1984 Aug;18(4):769-78. doi: 10.1002/ajmg.1320180424.

基因检测与早期诊断及干预:是福音还是负担?

Genetic testing and early diagnosis and intervention: boon or burden?

作者信息

Hepburn E R

机构信息

Queensland Bioethics Centre, Brisbane, Australia.

出版信息

J Med Ethics. 1996 Apr;22(2):105-10. doi: 10.1136/jme.22.2.105.

DOI:10.1136/jme.22.2.105
PMID:8731537
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1376924/
Abstract

The possibility of early diagnosis and intervention is radically changed by the advent of genetic testing. The recent report of the Nuffield Council on Bioethics is timely and helpful. I have suggested, that not only the severity of the disability indicated by genetic information, and the accuracy of the data, ought to govern the approach to the implementation of screening for genetic disorders. In addition, assessment of the value of the information to those involved should be considered. The efficacy of the available therapeutic measures, combined with the prognostic data are important indices of the value of the information. These measures fall into three categories and thus indicate that three different courses of intervention may be appropriate. Three approaches to diagnosis and intervention are then outlined, drawing on the experience of various clinical initiatives.

摘要

基因检测的出现从根本上改变了早期诊断和干预的可能性。纳菲尔德生物伦理委员会最近的报告及时且很有帮助。我曾建议,不仅基因信息所表明的残疾严重程度以及数据的准确性,应该决定实施遗传疾病筛查的方法。此外,还应考虑评估该信息对相关人员的价值。现有治疗措施的疗效,结合预后数据,是该信息价值的重要指标。这些措施可分为三类,因此表明可能有三种不同的干预方式是合适的。然后借鉴各种临床举措的经验,概述了三种诊断和干预方法。