Suppr超能文献

直接面向消费者的基因组学:有害还是赋能?:必须强调的是,遗传风险与遗传命运并不相同。

Direct-to-Consumer Genomics: Harmful or Empowering?: It is important to stress that genetic risk is not the same as genetic destiny.

作者信息

Eissenberg Joel C

机构信息

Joel C. Eissenberg, PHD, is a Professor and Associate Dean for Research, Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine.

出版信息

Mo Med. 2017 Jan-Feb;114(1):26-32.

Abstract

The price of whole-genome sequencing is now within the budget of the average American consumer. This has resulted in the commercialization of genome sequencing for a variety of applications, including health-related risk assessment. Direct-to-consumer marketing of personal DNA sequence information uncouples the generation of personal health-related data from the physician-patient relationship. Here, I discuss the status of consumer genomics and the current and potential concerns about bypassing physicians in the analysis and interpretation of personal genomic information and subsequent health care decision-making.

摘要

全基因组测序的价格如今已在普通美国消费者的预算范围内。这导致了基因组测序在包括健康相关风险评估在内的各种应用中的商业化。个人DNA序列信息的直接面向消费者的营销,使个人健康相关数据的生成与医患关系脱钩。在此,我将探讨消费者基因组学的现状,以及在个人基因组信息的分析和解读以及后续医疗决策过程中绕过医生所引发的当前和潜在问题。

相似文献

2
Direct-to-consumer personal genome testing and cancer risk prediction.
Cancer J. 2012 Jul-Aug;18(4):293-302. doi: 10.1097/PPO.0b013e3182610e38.
5
Research 2.0: social networking and direct-to-consumer (DTC) genomics.
Am J Bioeth. 2009;9(6-7):35-44. doi: 10.1080/15265160902874452.
6
Low budget analysis of Direct-To-Consumer genomic testing familial data.
F1000Res. 2012 Jul 16;1:3. doi: 10.12688/f1000research.1-3.v1. eCollection 2012.
9
Next generation testing strategy for assessment of genomic damage: A conceptual framework and considerations.
Environ Mol Mutagen. 2017 Jun;58(5):264-283. doi: 10.1002/em.22045. Epub 2016 Sep 21.
10
[Ethical issues in genome-era].
Nihon Rinsho. 2016 Jun;74(6):1022-7.

引用本文的文献

1
Privacy considerations for sharing genomics data.
EXCLI J. 2021 Jul 16;20:1243-1260. doi: 10.17179/excli2021-4002. eCollection 2021.
2
Direct-to-consumer personal genomic tests need better regulation.
Nat Med. 2021 Jun;27(6):940-943. doi: 10.1038/s41591-021-01368-9.
3
Physician Experience with Direct-To-Consumer Genetic Testing in Kaiser Permanente.
J Pers Med. 2019 Nov 1;9(4):47. doi: 10.3390/jpm9040047.
4
Journal of Translational Medicine advances in Translational Genomics and Genetics Era.
J Transl Med. 2019 Apr 25;17(1):134. doi: 10.1186/s12967-019-1874-7.
5
FDA Approves Direct-to-Consumer Cancer Genomics.
Mo Med. 2018 Mar-Apr;115(2):126.
6
Genomic Database Grows.
Mo Med. 2017 May-Jun;114(3):151.

本文引用的文献

1
Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants.
Clin Chem. 2016 Apr;62(4):647-54. doi: 10.1373/clinchem.2015.249623. Epub 2016 Feb 4.
3
Evaluation of symptom checkers for self diagnosis and triage: audit study.
BMJ. 2015 Jul 8;351:h3480. doi: 10.1136/bmj.h3480.
4
Regulation: The FDA is overcautious on consumer genomics.
Nature. 2014 Jan 16;505(7483):286-7. doi: 10.1038/505286a.
5
Variations in predicted risks in personal genome testing for common complex diseases.
Genet Med. 2014 Jan;16(1):85-91. doi: 10.1038/gim.2013.80. Epub 2013 Jun 27.
6
Impact of direct-to-consumer genetic testing.
J Oncol Pract. 2012 Jul;8(4):260. doi: 10.1200/JOP.2012.000653.
8
A systematic survey of loss-of-function variants in human protein-coding genes.
Science. 2012 Feb 17;335(6070):823-8. doi: 10.1126/science.1215040.
9
Effects of communicating DNA-based disease risk estimates on risk-reducing behaviours.
Cochrane Database Syst Rev. 2010 Oct 6(10):CD007275. doi: 10.1002/14651858.CD007275.pub2.
10
Disclosure of APOE genotype for risk of Alzheimer's disease.
N Engl J Med. 2009 Jul 16;361(3):245-54. doi: 10.1056/NEJMoa0809578.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验