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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.

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。

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