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精神分裂症患者及其家属基因检测应用中的伦理问题。

Ethical issues in the use of genetic testing of patients with schizophrenia and their families.

作者信息

DeLisi Lynn E

机构信息

aVA Boston Healthcare System, Brockton bHarvard Medical School, Boston, Massachusetts, USA.

出版信息

Curr Opin Psychiatry. 2014 May;27(3):191-6. doi: 10.1097/YCO.0000000000000060.

DOI:10.1097/YCO.0000000000000060
PMID:24662960
Abstract

PURPOSE OF REVIEW

This review outlines the positive and negative aspects of DNA testing and provides an account of the issues particularly relevant to schizophrenia.

RECENT FINDINGS

Modern technology has changed the field of medicine so rapidly that patients and their families have become much more independent in their healthcare decisions than in the previous decade. Simply by finding information on the Internet, they gain knowledge about disease diagnosis, treatment options and their side-effects. No medical field likely has been more affected and more controversial than that of genetics. It is now possible to sequence the individual human genome and detect single nucleotide variations, microdeletions and duplications within it. Commercial companies have sprung up in a similar manner to the software or electronic industries and have begun to market direct-to-consumer DNA testing. Much of this may be performed to satisfy curiosity about one's ancestry; but commercially available results that appear incidentally can also be distributed to the consumer.

SUMMARY

Ethicists, genetics researchers, clinicians and government agencies are currently in discussion about concerns raised about commercially available DNA testing, while at the same time recognizing its value in some instances to be able to predict very serious disabilities.

摘要

综述目的

本综述概述了DNA检测的积极和消极方面,并阐述了与精神分裂症特别相关的问题。

最新发现

现代技术使医学领域迅速变革,患者及其家属在医疗决策方面比过去十年更加自主。仅通过在互联网上查找信息,他们就能了解疾病诊断、治疗方案及其副作用。可能没有哪个医学领域比遗传学受到的影响更大、争议更多。现在已经能够对人类个体基因组进行测序,并检测其中的单核苷酸变异、微缺失和重复。商业公司如软件或电子行业一样涌现出来,开始向消费者推销直接面向消费者的DNA检测。进行这种检测很大程度上可能是为了满足对个人祖先的好奇心;但偶然出现的可商购的检测结果也会提供给消费者。

总结

伦理学家、遗传学研究人员、临床医生和政府机构目前正在讨论关于可商购DNA检测引发的担忧,同时也认识到其在某些情况下对于预测非常严重残疾的价值。

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