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直接面向消费者的基因检测:对欧洲指南、建议和立场声明的系统评价

Direct-to-consumer genetic testing: a systematic review of european guidelines, recommendations, and position statements.

作者信息

Rafiq Muhammad, Ianuale Carolina, Ricciardi Walter, Boccia Stefania

机构信息

1 Medical Management Center (MMC), Department of Learning, Informatics, Management and Ethics (LIME), Karolinska Institutet , Stockholm, Sweden .

2 SDA Bocconi School of Management , Milan, Italy .

出版信息

Genet Test Mol Biomarkers. 2015 Oct;19(10):535-47. doi: 10.1089/gtmb.2015.0051. Epub 2015 Aug 27.

DOI:10.1089/gtmb.2015.0051
PMID:26313927
Abstract

BACKGROUND

Personalized healthcare is expected to yield promising results, with a paradigm shift toward more personalization in the practice of medicine. This emerging field has wide-ranging implications for all the stakeholders. Commercial tests in the form of multiplex genetic profiles are currently being provided to consumers, without the physicians' consultation, through the Internet, referred to as direct-to-consumer genetic tests (DTC GT).

OBJECTIVES

The objective was to review all the existing European guidelines on DTC GT, and its associated interventions, to list all the supposed benefits and harms, issues and concerns, and recommendations.

METHODS

We conducted a systematic review of position statements, policies, guidelines, and recommendations, produced by professional organizations or other relevant bodies for use of DTC GT in Europe.

RESULTS

Seventeen documents met the inclusion criteria, which were subjected to thematic analysis, and the texts were coded for statements related to use of DTC GT.

DISCUSSION AND CONCLUSIONS

Professional societies and associations are currently more suggestive of potential disadvantages of DTC GT, recommending improved genetic literacy of both populations and health professionals, and implementation research on the genetic tests to integrate public health genomics into healthcare systems.

摘要

背景

个性化医疗有望产生良好效果,医学实践正朝着更加个性化的模式转变。这一新兴领域对所有利益相关者都有广泛影响。目前,以多重基因检测形式的商业检测正通过互联网在未经医生咨询的情况下提供给消费者,即直接面向消费者的基因检测(DTC GT)。

目的

目的是回顾所有现有的关于DTC GT及其相关干预措施的欧洲指南,列出所有假定的益处和危害、问题与担忧以及建议。

方法

我们对专业组织或其他相关机构制定的关于在欧洲使用DTC GT的立场声明、政策、指南和建议进行了系统回顾。

结果

十七份文件符合纳入标准,对其进行了主题分析,并对与DTC GT使用相关的陈述进行了编码。

讨论与结论

专业协会目前更多地指出了DTC GT的潜在弊端,建议提高公众和卫生专业人员的基因素养,并对基因检测进行实施研究,以将公共卫生基因组学纳入医疗保健系统。

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