The GeneInsight Suite: A Platform to Support Laboratory and Provider Use of DNA-Based Genetic Testing

被引：46

作者：

Aronson, Samuel J. ^{[1
,2
]}

Clark, Eugene H. ^{[2
]}

Babb, Lawrence J. ^{[2
]}

Baxter, Samantha ^{[1
]}

Farwell, Lisa M. ^{[1
]}

Funke, Birgit H. ^{[1
,3
,4
]}

Hernandez, Amy Lovelette ^{[1
]}

Joshi, Victoria A. ^{[1
,3
,4
]}

Lyon, Elaine ^{[5
,6
]}

Parthum, Andrew R. ^{[2
]}

Russell, Franklin J. ^{[2
]}

Varugheese, Matthew ^{[2
]}

Venman, Thomas C. ^{[2
]}

Rehm, Heidi L. ^{[1
,3
,4
]}

机构：

[1] Partners HealthCare Ctr Personalized Genet Med, Mol Med Lab, Cambridge, MA 02139 USA

[2] Partners HealthCare Informat Syst Dept, Cambridge, MA USA

[3] Massachusetts Gen Hosp, Brigham & Womens Hosp, Dept Pathol, Boston, MA 02114 USA

[4] Harvard Univ, Sch Med, Boston, MA USA

[5] Univ Utah, Dept Pathol, Salt Lake City, UT USA

[6] ARUP Labs, Salt Lake City, UT USA

来源：

HUMAN MUTATION | 2011年 / 32卷 / 05期

基金：

美国国家卫生研究院;

关键词：

variation; database; patient genetic profile; laboratory software; knowledgebase;

D O I：

10.1002/humu.21470

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The future of personalized medicine will hinge on effective management of patient genetic profiles. Molecular diagnostic testing laboratories need to track knowledge surrounding an increasingly large number of genetic variants, incorporate this knowledge into interpretative reports, and keep ordering clinicians up to date as this knowledge evolves. Treating clinicians need to track which variants have been identified in each of their patients along with the significance of these variants. The GeneInsight SM Suite assists in these areas. The suite also provides a basis for interconnecting laboratories and clinicians in a manner that increases the scalability of personalized medicine processes. Hum Mutat 32:532-536, 2011. (C) 2011 Wiley-Liss, Inc.

引用

页码：532 / 536

页数：5