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当消费者获得他们的基因组时。

When consumers get their genomes.

作者信息

Platt Darren

机构信息

Amyris Biotechnologies, 5885 Hollis Street, Suite 100 Emeryville, CA 94608, USA.

出版信息

Per Med. 2009 Nov;6(6):669-679. doi: 10.2217/pme.09.50.

DOI:10.2217/pme.09.50
PMID:29783364
Abstract

Direct-to-consumer (DTC) genomics services enable consumers to gain access to their DNA sequence using research microarrays and curated genetic association literature. For a few hundred US dollars, consumers can compare their genotypes against current research results, including risk estimates for common diseases based on SNPs. The DTC companies are legally avoiding claims of medical utility but are assembling the components needed for genomic-based healthcare. They represent an early vision of what modern personalized medicine could become. This has resulted in some conflict between the research and regulatory communities and there are reasonable questions as to whether the science is sufficiently mature. The DTC providers are exploring and solving problems associated with communicating complex scientific data and have the potential to revolutionize research by organizing large communities efficiently using web technology.

摘要

直接面向消费者(DTC)的基因组学服务使消费者能够通过研究用微阵列和经过整理的基因关联文献来获取自己的DNA序列。只需几百美元,消费者就可以将自己的基因型与当前的研究结果进行比较,包括基于单核苷酸多态性(SNP)的常见疾病风险评估。DTC公司在法律上避免声称具有医疗效用,但正在组装基于基因组的医疗保健所需的组件。它们代表了现代个性化医疗未来可能的早期愿景。这导致了研究界与监管界之间的一些冲突,并且对于科学是否足够成熟也存在合理的疑问。DTC提供商正在探索并解决与传达复杂科学数据相关的问题,并且有潜力通过利用网络技术高效地组织大型群体来彻底改变研究。

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引用本文的文献

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Other side of the coin for personalised medicine and healthcare: content analysis of 'personalised' practices in the literature.个性化医疗与保健的另一面:文献中“个性化”实践的内容分析
BMJ Open. 2016 Jul 13;6(7):e010243. doi: 10.1136/bmjopen-2015-010243.
2
A quick guide to genomics and bioinformatics training for clinical and public audiences.面向临床和公众的基因组学与生物信息学培训快速指南。
PLoS Comput Biol. 2014 Apr 10;10(4):e1003510. doi: 10.1371/journal.pcbi.1003510. eCollection 2014 Apr.
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Current State and Future Prospects of Direct-to-Consumer Pharmacogenetics.
直接面向消费者的药物遗传学的现状与未来前景
Front Pharmacol. 2012 Aug 20;3:152. doi: 10.3389/fphar.2012.00152. eCollection 2012.