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直接面向消费者的基因检测:价值与风险。

Direct-to-Consumer Genetic Testing: Value and Risk.

机构信息

Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas 77030, USA; email:

出版信息

Annu Rev Med. 2021 Jan 27;72:151-166. doi: 10.1146/annurev-med-070119-114727. Epub 2020 Jul 31.

Abstract

Although the explosive growth of direct-to-consumer (DTC) genetic testing has moderated, a substantial number of patients are choosing to undergo genetic testing outside the purview of their regular healthcare providers. Further, many industry leaders have been expanding reports to cover many more genes, as well as partnering with employers and others to expand access. This review addresses continuing concerns about DTC genetic testing quality, psychosocial impact, integration with medical practice, effects on the healthcare system, and privacy, as well as emerging concerns about third-party interpretation services and non-health-related uses such as investigative genetic genealogy. It concludes with an examination of two possible futures for DTC genetic testing: merger with traditional modes of healthcare delivery or continuation as a parallel system for patient-driven generation of health-relevant information. Each possibility is associated with distinctive questions related to value and risk.

摘要

尽管直接面向消费者(DTC)基因检测的爆炸式增长已经放缓,但仍有相当数量的患者选择在常规医疗服务提供者的监督之外进行基因检测。此外,许多行业领导者一直在扩大报告范围,涵盖更多的基因,并与雇主和其他方合作以扩大服务对象。本综述讨论了关于 DTC 基因检测质量、心理社会影响、与医疗实践的整合、对医疗体系的影响以及隐私等方面的持续关注,以及关于第三方解释服务和非健康相关用途(如调查性基因谱系学)的新出现的关注。最后,本文探讨了 DTC 基因检测的两种可能未来:与传统医疗服务模式融合,或作为患者驱动的健康相关信息生成的平行系统继续存在。这两种可能性都与与价值和风险相关的独特问题相关联。

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