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直接面向消费者的基因检测与全科医生

Direct-to-consumer DNA testing and the GP.

作者信息

Trent Ronald

机构信息

PhD, FRACP, FRCPA, Professor of Molecular Medical Genetics, Sydney University and Royal Prince Alfred Hospital, Camperdown, NSW.

出版信息

Aust Fam Physician. 2014 Jul;43(7):436-9.

PMID:25006602
Abstract

BACKGROUND

From early 2000 a new form of DNA genetic testing became available commercially. It bypasses the medical practitioner and can be ordered directly by the individual.

OBJECTIVE

To understand direct-to-consumer (DTC) DNA genetic testing and be able to respond appropriately if asked to be involved by a patient.

DISCUSSION

Presently, all but one or two DTC DNA genetic testing laboratories are located outside Australia. The industry promotes itself as a means to better health through giving individuals complete control over their results. When communicating with patients about DTC DNA genetic testing, general practitioners will need to make a determination about the clinical utility of the test and the laboratory validity, both of which can be difficult in the current environment. Assistance may be available through public hospital clinical genetics services, although waiting times can be long. There is likely to be tighter regulation of these types of testing in the future, which may include involvement of medical practitioners.

摘要

背景

从21世纪初开始,一种新型的DNA基因检测在商业上可用。它绕过了医生,个人可以直接订购。

目的

了解直接面向消费者(DTC)的DNA基因检测,并能够在患者要求参与时做出适当回应。

讨论

目前,除了一两个之外,所有DTC DNA基因检测实验室都位于澳大利亚境外。该行业将自己宣传为一种通过让个人完全掌控检测结果来改善健康的手段。在与患者交流DTC DNA基因检测时,全科医生需要确定检测的临床实用性和实验室有效性,而在当前环境下这两者都可能很困难。公立医院的临床遗传学服务可能会提供帮助,尽管等待时间可能很长。未来对这类检测可能会有更严格的监管,这可能包括医生的参与。

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引用本文的文献

1
Regulation of Internet-based Genetic Testing: Challenges for Australia and Other Jurisdictions.基于互联网的基因检测监管:澳大利亚及其他司法管辖区面临的挑战
Front Public Health. 2018 Feb 15;6:24. doi: 10.3389/fpubh.2018.00024. eCollection 2018.
2
The effect of disease risk probability and disease type on interest in clinic-based versus direct-to-consumer genetic testing services.疾病风险概率和疾病类型对基于诊所的基因检测服务与直接面向消费者的基因检测服务兴趣的影响。
J Behav Med. 2015 Oct;38(5):706-14. doi: 10.1007/s10865-015-9630-9. Epub 2015 Mar 27.