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本文引用的文献

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Physician liability: the next big thing for personalized medicine?医生责任:个性化医疗的下一个重大问题?
Per Med. 2011 Jul;8(4):457-467. doi: 10.2217/pme.11.33.
2
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.ACMG 临床外显子组和基因组测序中偶然发现报告的推荐标准。
Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20.
3
Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing.非偶然发现:美国医学遗传学与基因组学学会关于临床全基因组和全外显子组测序中偶然发现报告的建议
Trends Biotechnol. 2013 Aug;31(8):439-41. doi: 10.1016/j.tibtech.2013.04.006. Epub 2013 May 9.
4
Individualization of antiretroviral therapy.抗逆转录病毒疗法的个体化
Pharmgenomics Pers Med. 2012;5:1-17. doi: 10.2147/PGPM.S15303. Epub 2011 Dec 29.
5
Mapping the incidentalome: estimating incidental findings generated through clinical pharmacogenomics testing.绘制偶然发现图谱:估计通过临床药物基因组学检测产生的偶然发现。
Genet Med. 2013 May;15(5):325-31. doi: 10.1038/gim.2012.147. Epub 2012 Nov 29.
6
A clinician-driven automated system for integration of pharmacogenetic interpretations into an electronic medical record.一种由临床医生驱动的自动化系统,用于将药物遗传学解释整合到电子病历中。
Clin Pharmacol Ther. 2012 Nov;92(5):563-6. doi: 10.1038/clpt.2012.140. Epub 2012 Sep 19.
7
The 1200 patients project: creating a new medical model system for clinical implementation of pharmacogenomics.1200 例患者项目:创建一个新的医学模型系统,用于临床实施药物基因组学。
Clin Pharmacol Ther. 2012 Oct;92(4):446-9. doi: 10.1038/clpt.2012.117. Epub 2012 Aug 29.
8
Potentially relevant incidental findings on research whole-body MRI in the general adult population: frequencies and management.一般成年人群体研究性全身 MRI 的潜在相关偶然发现:频率和处理方法。
Eur Radiol. 2013 Mar;23(3):816-26. doi: 10.1007/s00330-012-2636-6. Epub 2012 Aug 22.
9
Operational implementation of prospective genotyping for personalized medicine: the design of the Vanderbilt PREDICT project.前瞻性个体化医疗基因分型的实施:范德堡 PREDICT 项目的设计。
Clin Pharmacol Ther. 2012 Jul;92(1):87-95. doi: 10.1038/clpt.2011.371. Epub 2012 May 16.
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偶然发现的基因组信息对临床药物基因组学的影响。

Implications of the incidentalome for clinical pharmacogenomics.

机构信息

Kosair Charities Pediatric Clinical Research Unit, Department of Pediatrics, University of Louisville School of Medicine, 231 East Chestnut Street, N-97, Louisville, KY 40202, USA.

出版信息

Pharmacogenomics. 2013 Aug;14(11):1353-62. doi: 10.2217/pgs.13.119.

DOI:10.2217/pgs.13.119
PMID:23930680
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3881234/
Abstract

Incidental findings have long posed challenges for healthcare providers, but the scope and scale of these challenges have increased with the introduction of new technologies. This article assesses the impact of incidental findings on the introduction of prospective pharmacogenomic testing into clinical use. Focusing on the challenges of the incidentalome, the large set of incidental findings potentially generated through genotyping, the paper argues that provisional approaches to managing incidental findings may be implemented if necessary to allow benefits of pharmacogenomic testing to be realized in the clinical setting. In the longer term, approaches to returning incidental findings may need to focus on limiting the number of incidental findings to a number that can be addressed by patients and providers.

摘要

偶然发现长期以来一直给医疗保健提供者带来挑战,但随着新技术的引入,这些挑战的范围和规模有所增加。本文评估了偶然发现对前瞻性药物基因组检测引入临床应用的影响。本文侧重于偶然基因组学的挑战,即通过基因分型可能产生的大量偶然发现,认为如果有必要,可采用临时方法来管理偶然发现,以使药物基因组检测的益处能够在临床环境中实现。从长远来看,偶然发现的处理方法可能需要侧重于将偶然发现的数量限制在患者和提供者能够处理的数量。