Future Translational Applications From the Contemporary Genomics Era A Scientific Statement From the American Heart Association

被引:32
作者
Fox, Caroline S.
Hall, Jennifer L.
Arnett, Donna K.
Ashley, Euan A.
Delles, Christian
Engler, Mary B.
Freeman, Mason W.
Johnson, Julie A.
Lanfear, David E.
Liggett, Stephen B.
Lusis, Aldons J.
Loscalzo, Joseph
MacRae, Calum A.
Musunuru, Kiran
Newby, L. Kristin
O'Donnell, Christopher J.
Rich, Stephen S.
Terzic, Andre
机构
关键词
AHA Scientific Statements; adrenergic beta-antagonists; DNA; genetics; genome-wide association study; HapMap Project; Human Genome Project; PCSK9; protein; mouse; polymorphism; single nucleotide; GENETIC RISK SCORE; OF-FUNCTION POLYMORPHISM; PLURIPOTENT STEM-CELLS; STAGE RENAL-DISEASE; CYP2C19; GENOTYPE; FAMILIAL HYPERCHOLESTEROLEMIA; NEOADJUVANT CHEMOTHERAPY; HOMOLOGOUS RECOMBINATION; CARDIOVASCULAR-DISEASE; MONOCLONAL-ANTIBODY;
D O I
10.1161/CIR.0000000000000211
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The field of genetics and genomics has advanced considerably with the achievement of recent milestones encompassing the identification of many loci for cardiovascular disease and variable drug responses. Despite this achievement, a gap exists in the understanding and advancement to meaningful translation that directly affects disease prevention and clinical care. The purpose of this scientific statement is to address the gap between genetic discoveries and their practical application to cardiovascular clinical care. In brief, this scientific statement assesses the current timeline for effective translation of basic discoveries to clinical advances, highlighting past successes. Current discoveries in the area of genetics and genomics are covered next, followed by future expectations, tools, and competencies for achieving the goal of improving clinical care.
引用
收藏
页码:1715 / 1736
页数:22
相关论文
共 145 条
[1]   Mutations in PCSK9 cause autosomal dominant hypercholesterolemia [J].
Abifadel, M ;
Varret, M ;
Rabès, JP ;
Allard, D ;
Ouguerram, K ;
Devillers, M ;
Cruaud, C ;
Benjannet, S ;
Wickham, L ;
Erlich, D ;
Derré, A ;
Villéger, L ;
Farnier, M ;
Beucler, I ;
Bruckert, E ;
Chambaz, J ;
Chanu, B ;
Lecerf, JM ;
Luc, G ;
Moulin, P ;
Weissenbach, J ;
Prat, A ;
Krempf, M ;
Junien, C ;
Seidah, NG ;
Boileau, C .
NATURE GENETICS, 2003, 34 (02) :154-156
[2]  
Ackerman MJ, 2011, HEART RHYTHM, V8, P1308, DOI [10.1016/j.hrthm.2011.05.020, 10.1093/europace/eur245]
[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]   An integrated map of genetic variation from 1,092 human genomes [J].
Altshuler, David M. ;
Durbin, Richard M. ;
Abecasis, Goncalo R. ;
Bentley, David R. ;
Chakravarti, Aravinda ;
Clark, Andrew G. ;
Donnelly, Peter ;
Eichler, Evan E. ;
Flicek, Paul ;
Gabriel, Stacey B. ;
Gibbs, Richard A. ;
Green, Eric D. ;
Hurles, Matthew E. ;
Knoppers, Bartha M. ;
Korbel, Jan O. ;
Lander, Eric S. ;
Lee, Charles ;
Lehrach, Hans ;
Mardis, Elaine R. ;
Marth, Gabor T. ;
McVean, Gil A. ;
Nickerson, Deborah A. ;
Schmidt, Jeanette P. ;
Sherry, Stephen T. ;
Wang, Jun ;
Wilson, Richard K. ;
Gibbs, Richard A. ;
Dinh, Huyen ;
Kovar, Christie ;
Lee, Sandra ;
Lewis, Lora ;
Muzny, Donna ;
Reid, Jeff ;
Wang, Min ;
Wang, Jun ;
Fang, Xiaodong ;
Guo, Xiaosen ;
Jian, Min ;
Jiang, Hui ;
Jin, Xin ;
Li, Guoqing ;
Li, Jingxiang ;
Li, Yingrui ;
Li, Zhuo ;
Liu, Xiao ;
Lu, Yao ;
Ma, Xuedi ;
Su, Zhe ;
Tai, Shuaishuai ;
Tang, Meifang .
NATURE, 2012, 491 (7422) :56-65
[5]   US Food and Drug Administration Approval Summary: Omacetaxine Mepesuccinate as Treatment for Chronic Myeloid Leukemia [J].
Alvandi, Firoozeh ;
Kwitkowski, Virginia E. ;
Ko, Chia-Wen ;
Rothmann, Mark D. ;
Ricci, Stacey ;
Saber, Haleh ;
Ghosh, Debasis ;
Brown, Janice ;
Pfeiler, Erika ;
Chikhale, Elsbeth ;
Grillo, Joseph ;
Bullock, Julie ;
Kane, Robert ;
Kaminskas, Edvardas ;
Farrell, Ann T. ;
Pazdur, Richard .
ONCOLOGIST, 2014, 19 (01) :94-99
[7]  
[Anonymous], 2012, BEST PRACT AD CLIN T, P1
[8]  
[Anonymous], 2011, - Toward precision medicine building a knowledge network for biomedical research and a new taxonomy of disease National Research Council U.S. Committee on A Framework for Developing a New Taxonomy of Disease
[9]   Systems pharmacology, pharmacogenetics, and clinical trial design in network medicine [J].
Antman, Elliott ;
Weiss, Scott ;
Loscalzo, Joseph .
WILEY INTERDISCIPLINARY REVIEWS-SYSTEMS BIOLOGY AND MEDICINE, 2012, 4 (04) :367-383
[10]   Longitudinal Cystic Fibrosis Care [J].
Antunovic, S. S. ;
Lukac, M. ;
Vujovic, D. .
CLINICAL PHARMACOLOGY & THERAPEUTICS, 2013, 93 (01) :86-97