Pharmacogenomics and Individualized Medicine: Translating Science Into Practice

被引:167
作者
Crews, K. R. [1 ]
Hicks, J. K. [1 ]
Pui, C-H [2 ]
Relling, M. V. [1 ]
Evans, W. E. [1 ]
机构
[1] St Jude Childrens Res Hosp, Dept Pharmaceut Sci, Memphis, TN 38105 USA
[2] St Jude Childrens Res Hosp, Dept Oncol, Memphis, TN 38105 USA
基金
美国国家卫生研究院;
关键词
IMPLEMENTATION CONSORTIUM GUIDELINES; THIOPURINE METHYLTRANSFERASE; COST-EFFECTIVENESS; GENETIC-VARIATION; CYP2C19; GENOTYPE; GENOME; THERAPY; ASSOCIATION; VARIANTS; SLCO1B1;
D O I
10.1038/clpt.2012.120
中图分类号
R9 [药学];
学科分类号
1007 ;
摘要
Research on genes and medications has advanced our understanding of the genetic basis of individual drug responses. The aim of pharmacogenomics is to develop strategies for individualizing therapy for patients, in order to optimize outcome through knowledge of the variability of the human genome and its influence on drug response. Pharmacogenomics research is translational in nature and ranges from discovery of genotype-phenotype relationships to clinical trials that can provide proof of clinical impact. Advances in pharmacogenomics offer significant potential for subsequent clinical application in individual patients; however, the translation of pharmacogenomics research findings into clinical practice has been slow. Key components to successful clinical implementation of pharmacogenomics will include consistent interpretation of pharmacogenomics test results, availability of clinical guidelines for prescribing on the basis of test results, and knowledge-based decision support systems.
引用
收藏
页码:467 / 475
页数:9
相关论文
共 72 条
[1]   Pharmacogenomics: "Noninferiority" Is Sufficient for Initial Implementation [J].
Altman, R. B. .
CLINICAL PHARMACOLOGY & THERAPEUTICS, 2011, 89 (03) :348-350
[2]   A haplotype map of the human genome [J].
Altshuler, D ;
Brooks, LD ;
Chakravarti, A ;
Collins, FS ;
Daly, MJ ;
Donnelly, P ;
Gibbs, RA ;
Belmont, JW ;
Boudreau, A ;
Leal, SM ;
Hardenbol, P ;
Pasternak, S ;
Wheeler, DA ;
Willis, TD ;
Yu, FL ;
Yang, HM ;
Zeng, CQ ;
Gao, Y ;
Hu, HR ;
Hu, WT ;
Li, CH ;
Lin, W ;
Liu, SQ ;
Pan, H ;
Tang, XL ;
Wang, J ;
Wang, W ;
Yu, J ;
Zhang, B ;
Zhang, QR ;
Zhao, HB ;
Zhao, H ;
Zhou, J ;
Gabriel, SB ;
Barry, R ;
Blumenstiel, B ;
Camargo, A ;
Defelice, M ;
Faggart, M ;
Goyette, M ;
Gupta, S ;
Moore, J ;
Nguyen, H ;
Onofrio, RC ;
Parkin, M ;
Roy, J ;
Stahl, E ;
Winchester, E ;
Ziaugra, L ;
Shen, Y .
NATURE, 2005, 437 (7063) :1299-1320
[3]   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
[4]   Wild-type KRAS is required for panitumumab efficacy in patients with metastatic colorectal cancer [J].
Amado, Rafael G. ;
Wolf, Michael ;
Peeters, Marc ;
Van Cutsem, Eric ;
Siena, Salvatore ;
Freeman, Daniel J. ;
Juan, Todd ;
Sikorski, Robert ;
Suggs, Sid ;
Radinsky, Robert ;
Patterson, Scott D. ;
Chang, David D. .
JOURNAL OF CLINICAL ONCOLOGY, 2008, 26 (10) :1626-1634
[5]  
[Anonymous], 2011, SCI TRANSL MED
[6]   Clinical assessment incorporating a personal genome [J].
Ashley, Euan A. ;
Butte, Atul J. ;
Wheeler, Matthew T. ;
Chen, Rong ;
Klein, Teri E. ;
Dewey, Frederick E. ;
Dudley, Joel T. ;
Ormond, Kelly E. ;
Pavlovic, Aleksandra ;
Morgan, Alexander A. ;
Pushkarev, Dmitry ;
Neff, Norma F. ;
Hudgins, Louanne ;
Gong, Li ;
Hodges, Laura M. ;
Berlin, Dorit S. ;
Thorn, Caroline F. ;
Sangkuhl, Katrin ;
Hebert, Joan M. ;
Woon, Mark ;
Sagreiya, Hersh ;
Whaley, Ryan ;
Knowles, Joshua W. ;
Chou, Michael F. ;
Thakuria, Joseph V. ;
Rosenbaum, Abraham M. ;
Zaranek, Alexander Wait ;
Church, George M. ;
Greely, Henry T. ;
Quake, Stephen R. ;
Altman, Russ B. .
LANCET, 2010, 375 (9725) :1525-1535
[7]   Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans [J].
Carlson, CS ;
Eberle, MA ;
Rieder, MJ ;
Smith, JD ;
Kruglyak, L ;
Nickerson, DA .
NATURE GENETICS, 2003, 33 (04) :518-521
[8]   Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes [J].
Chen, Rui ;
Mias, George I. ;
Li-Pook-Than, Jennifer ;
Jiang, Lihua ;
Lam, Hugo Y. K. ;
Chen, Rong ;
Miriami, Elana ;
Karczewski, Konrad J. ;
Hariharan, Manoj ;
Dewey, Frederick E. ;
Cheng, Yong ;
Clark, Michael J. ;
Im, Hogune ;
Habegger, Lukas ;
Balasubramanian, Suganthi ;
O'Huallachain, Maeve ;
Dudley, Joel T. ;
Hillenmeyer, Sara ;
Haraksingh, Rajini ;
Sharon, Donald ;
Euskirchen, Ghia ;
Lacroute, Phil ;
Bettinger, Keith ;
Boyle, Alan P. ;
Kasowski, Maya ;
Grubert, Fabian ;
Seki, Scott ;
Garcia, Marco ;
Whirl-Carrillo, Michelle ;
Gallardo, Mercedes ;
Blasco, Maria A. ;
Greenberg, Peter L. ;
Snyder, Phyllis ;
Klein, Teri E. ;
Altman, Russ B. ;
Butte, Atul J. ;
Ashley, Euan A. ;
Gerstein, Mark ;
Nadeau, Kari C. ;
Tang, Hua ;
Snyder, Michael .
CELL, 2012, 148 (06) :1293-1307
[9]   Karyotypic abnormalities create discordance of germline genotype and cancer cell phenotypes [J].
Cheng, Q ;
Yang, WJ ;
Raimondi, SC ;
Pui, CH ;
Relling, MV ;
Evans, WE .
NATURE GENETICS, 2005, 37 (08) :878-882
[10]   Pharmacogenetics in Acute Lymphoblastic Leukemia [J].
Cheok, Meyling H. ;
Pottier, Nicolas ;
Kager, Leo ;
Evans, William E. .
SEMINARS IN HEMATOLOGY, 2009, 46 (01) :39-51