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基层医疗医生应如何应对面向消费者的基因检测结果?

How Should Primary Care Physicians Respond to Direct-to-Consumer Genetic Test Results?

作者信息

Brothers Kyle B, Knapp Esther E

机构信息

A primary care pediatrician and bioethicist at the University of Louisville School of Medicine in Louisville, Kentucky.

A pediatric hematologist-oncologist at the University of Louisville School of Medicine in Louisville, Kentucky.

出版信息

AMA J Ethics. 2018 Sep 1;20(9):E812-818. doi: 10.1001/amajethics.2018.812.

DOI:10.1001/amajethics.2018.812
PMID:30242811
Abstract

In this case, a primary care physician is presented with direct-to-consumer genetic test results and asked to provide counseling and order follow-up diagnostics. In order to deal effectively with this situation, we suggest physicians need look no further than the practice principles that guide more routine clinical encounters. We examine the rationale behind 2 major clinical ethical considerations: (1) physicians have obligations to help their patients achieve reasonable health goals but are not obligated to perform procedures that are not medically indicated; and (2) primary care physicians do not need to know everything; they just need to know how to get their patients appropriate care.

摘要

在这种情况下,一名初级保健医生收到了直接面向消费者的基因检测结果,并被要求提供咨询服务并安排后续诊断。为了有效应对这种情况,我们建议医生只需遵循指导更常规临床诊疗的实践原则即可。我们审视了两大主要临床伦理考量背后的基本原理:(1)医生有义务帮助患者实现合理的健康目标,但没有义务实施无医学指征的程序;(2)初级保健医生无需知晓一切;他们只需知道如何为患者提供恰当的治疗。

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引用本文的文献

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Alzheimers Dement (Amst). 2021 Feb 20;13(1):e12157. doi: 10.1002/dad2.12157. eCollection 2021.
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Health and kinship matter: Learning about direct-to-consumer genetic testing user experiences via online discussions.
健康与亲情的重要性:通过网络讨论了解直接面向消费者的基因检测用户体验。
PLoS One. 2020 Sep 8;15(9):e0238644. doi: 10.1371/journal.pone.0238644. eCollection 2020.
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Consistency of Direct-to-Consumer Genetic Testing Results Among Identical Twins.直接面向消费者的基因检测结果在同卵双胞胎间的一致性。
Am J Med. 2020 Jan;133(1):143-146.e2. doi: 10.1016/j.amjmed.2019.04.052. Epub 2019 Jun 15.
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Cases in Precision Medicine: Concerns About Privacy and Discrimination After Genomic Sequencing.精准医学案例:基因组测序后对隐私和歧视的担忧。
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