How novel molecular diagnostic technologies and biomarkers are revolutionizing genetic testing and patient care

被引:17
作者
Baudhuin, Linnea M. [1 ]
Donato, Leslie J. [1 ]
Uphoff, Timothy S. [2 ]
机构
[1] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA
[2] Marshfield Clin Fdn Med Res & Educ, Marshfield Labs, Mol Pathol Lab, Marshfield, WI 54449 USA
关键词
array comparative genomic hybridization; cell-free nucleic acid; chromosomal microarray; circulating nucleic acid; companion diagnostics; fetal DNA; massively parallel sequencing; microRNA; miRNA; molecular diagnostics; next-generation sequencing; personalized medicine; NONINVASIVE PRENATAL-DIAGNOSIS; MATERNAL PLASMA; FETAL DNA; PERSONALIZED MEDICINE; GENOMIC HYBRIDIZATION; CIRCULATORY DNA; GENERATION; MICRORNAS; MICROARRAY; MUTATIONS;
D O I
10.1586/ERM.11.85
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
Technological applications and novel biomarkers in the field of molecular diagnostics have never been evolving at a more rapid pace. These novel applications have the promise to change the face of clinical care as we move into the era of personalized medicine. While some of these technologies and biomarkers have been adopted by some clinical laboratories, most laboratories face a steep learning curve in bringing these dramatically new and different molecular diagnostic applications on board. Furthermore, interpreting the vast amounts and new types of data produced by these novel applications brings forth challenges for laboratorians and clinicians alike. In this article, we discuss how some of these emerging novel molecular diagnostic technologies and analytes, such as next-generation sequencing, chromosomal microarray, microRNAs and circulating fetal nucleic acids are revolutionizing patient care and personalized medicine.
引用
收藏
页码:25 / 37
页数:13
相关论文
共 113 条
[1]   Measuring microRNAs: Comparisons of microarray and quantitative PCR measurements, and of different total RNA prep methods [J].
Ach, Robert A. ;
Wang, Hui ;
Curry, Bo .
BMC BIOTECHNOLOGY, 2008, 8 (1)
[2]   Accurate and comprehensive sequencing of personal genomes [J].
Ajay, Subramanian S. ;
Parker, Stephen C. J. ;
Abaan, Hatice Ozel ;
Fajardo, Karin V. Fuentes ;
Margulies, Elliott H. .
GENOME RESEARCH, 2011, 21 (09) :1498-1505
[3]   Mirnome analysis reveals novel molecular determinants in the pathogenesis of diet-induced nonalcoholic fatty liver disease [J].
Alisi, Anna ;
Da Sacco, Letizia ;
Bruscalupi, Giovannella ;
Piemonte, Fiorella ;
Panera, Nadia ;
De Vito, Rita ;
Leoni, Silvia ;
Bottazzo, Gian Franco ;
Masotti, Andrea ;
Nobili, Valerio .
LABORATORY INVESTIGATION, 2011, 91 (02) :283-293
[4]   A map of human genome variation from population-scale sequencing [J].
Altshuler, David ;
Durbin, Richard M. ;
Abecasis, Goncalo R. ;
Bentley, David R. ;
Chakravarti, Aravinda ;
Clark, Andrew G. ;
Collins, Francis S. ;
De la Vega, Francisco M. ;
Donnelly, Peter ;
Egholm, Michael ;
Flicek, Paul ;
Gabriel, Stacey B. ;
Gibbs, Richard A. ;
Knoppers, Bartha M. ;
Lander, Eric S. ;
Lehrach, Hans ;
Mardis, Elaine R. ;
McVean, Gil A. ;
Nickerson, DebbieA. ;
Peltonen, Leena ;
Schafer, Alan J. ;
Sherry, Stephen T. ;
Wang, Jun ;
Wilson, Richard K. ;
Gibbs, Richard A. ;
Deiros, David ;
Metzker, Mike ;
Muzny, Donna ;
Reid, Jeff ;
Wheeler, David ;
Wang, Jun ;
Li, Jingxiang ;
Jian, Min ;
Li, Guoqing ;
Li, Ruiqiang ;
Liang, Huiqing ;
Tian, Geng ;
Wang, Bo ;
Wang, Jian ;
Wang, Wei ;
Yang, Huanming ;
Zhang, Xiuqing ;
Zheng, Huisong ;
Lander, Eric S. ;
Altshuler, David L. ;
Ambrogio, Lauren ;
Bloom, Toby ;
Cibulskis, Kristian ;
Fennell, Tim J. ;
Gabriel, Stacey B. .
NATURE, 2010, 467 (7319) :1061-1073
[5]  
[Anonymous], 2009, NATL HLTH EXPENDITUR
[6]  
[Anonymous], DATABASE GENOMIC VAR
[7]  
[Anonymous], Draft Guidance for Industry and FDA Staff Heart Valves - Investigational Device Exemption (IDE) and Premarket Approval (PMA) Applications
[8]  
[Anonymous], PATHOLOG RES INT
[9]  
[Anonymous], 2011, ADV REGULATORY SCI F
[10]  
*APPL BIOS, SOLID SYST NEXT GEN