Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing A Report of the Association for Molecular Pathology

被引：107

作者：

Schrijver, Iris ^{[1
,2
,3
]}

Aziz, Nazneen ^{[3
,4
]}

Farkas, Daniel H. ^{[3
,5
]}

Furtado, Manohar ^{[3
,6
]}

Gonzalez, Andrea Ferreira ^{[3
,7
]}

Greiner, Timothy C. ^{[3
,8
]}

Grody, Wayne W. ^{[3
,9
]}

Hambuch, Tina ^{[3
,10
]}

Kalman, Lisa ^{[3
,11
]}

Kant, Jeffrey A. ^{[3
,12
]}

Klein, Roger D. ^{[3
,13
]}

Leonard, Debra G. B. ^{[3
,14
]}

Lubin, Ira M. ^{[3
,11
]}

Mao, Rong ^{[3
,15
]}

Nagan, Narasimhan ^{[3
,16
]}

Pratt, Victoria M. ^{[3
,17
]}

Sobel, Mark E. ^{[3
,18
]}

Voelkerding, Karl V. ^{[3
,19
,20
]}

Gibson, Jane S. ^{[3
,21
]}

机构：

[1] Stanford Univ, Dept Pathol, Sch Med, Stanford, CA 94305 USA

[2] Stanford Univ, Dept Pediat, Sch Med, Stanford, CA 94305 USA

[3] Assoc Mol Pathol Clin Practice Comm, Whole Genome Anal Working Grp, Bethesda, MD USA

[4] Coll Amer Pathologists, Dept Transformat, Program Off, Northfield, IL USA

[5] Sequenom Ctr Mol Med, Dept Clin Diagnost, Grand Rapids, MI USA

[6] Life Technol, Dept Mol Med, Foster City, CA USA

[7] Virginia Commonwealth Univ, Dept Pathol, Richmond, VA USA

[8] Univ Nebraska Med Ctr, Dept Pathol & Microbiol, Omaha, NE USA

[9] Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles Sch Med, Los Angeles, CA USA

[10] Illumina Clin Serv Lab, San Diego, CA USA

[11] Ctr Dis Control & Prevent, Div Lab Sci & Stand, Atlanta, GA USA

[12] Univ Pittsburgh, Med Ctr, Dept Pathol, Pittsburgh, PA USA

[13] Med Coll Wisconsin, BloodCtr Wisconsin, Milwaukee, WI 53226 USA

[14] Weill Cornell Med Coll, Dept Pathol & Lab Med, New York, NY USA

[15] Univ Utah, Dept Pathol, ARUP Labs, Salt Lake City, UT USA

[16] Esoterix Genet Labs LLC, Westborough, MA USA

[17] Nichols Inst, Chantilly, VA USA

[18] Amer Soc Invest Pathol, Bethesda, MD USA

[19] Univ Utah, Sch Med, Dept Pathol, Salt Lake City, UT USA

[20] ARUP Inst Expt & Clin Pathol, Salt Lake City, UT USA

[21] Univ Cent Florida, Coll Med, Dept Clin Sci Pathol, Orlando, FL 32816 USA

来源：

JOURNAL OF MOLECULAR DIAGNOSTICS | 2012年 / 14卷 / 06期

关键词：

CANCER GENOME; DNA; RISK; MUTATIONS; BREAST; RECOMMENDATIONS; LANDSCAPE; QUALITY; SCORE;

D O I：

10.1016/j.jmoldx.2012.04.006

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

This report of the Whole Genome Analysis group of the Association for Molecular Pathology illuminates the opportunities and challenges associated with clinical diagnostic genome sequencing. With the reality of clinical application of next-generation sequencing, technical aspects of molecular testing can be accomplished at greater speed and with higher volume, while much information is obtained. Although this testing is a next logical step for molecular pathology laboratories, the potential impact on the diagnostic process and clinical correlations is extraordinary and clinical interpretation will be challenging. We review the rapidly evolving technologies; provide application examples; discuss aspects of clinical utility, ethics, and consent; and address the analytic, postanalytic, and professional implications. (J Mol Diagn 2012, 14:525-540; http://dx.doi.org/10.1016/j.jmoldx.2012.04.006)

引用

页码：525 / 540

页数：16

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