Building the foundation for genomics in precision medicine

被引：319

作者：

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

Rehm, Heidi L. ^{[1
,3
,4
,5
]}

机构：

[1] Partners HealthCare Personalized Med, Boston, MA 02115 USA

[2] Partners HealthCare Res Informat Serv & Comp, Charlestown, MA 02129 USA

[3] Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA

[4] Harvard Univ, Sch Med, Boston, MA 02115 USA

[5] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA

来源：

NATURE | 2015年 / 526卷 / 7573期

关键词：

IMPLEMENTATION CONSORTIUM GUIDELINES; SEQUENCE VARIATION; EMERGE NETWORK; LUNG-CANCER; BIG DATA; DATABASE; RECORDS; ASSOCIATION; INFORMATION; PREDICTION;

D O I：

10.1038/nature15816

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Precision medicine has the potential to profoundly improve the practice of medicine. However, the advances required will take time to implement. Genetics is already being used to direct clinical decision-making and its contribution is likely to increase. To accelerate these advances, fundamental changes are needed in the infrastructure and mechanisms for data collection, storage and sharing. This will create a continuously learning health-care system with seamless cycling between clinical care and research. Patients must be educated about the benefits of sharing data. The building blocks for such a system are already forming and they will accelerate the adoption of precision medicine.

引用

页码：336 / 342

页数：7

共 56 条

[1] The Prostate Cancer DREAM Challenge: A Community-Wide Effort to Use Open Clinical Trial Data for the Quantitative Prediction of Outcomes in Metastatic Prostate Cancer [J].

Abdallah, Kald ;

Hugh-Jones, Charles ;

Norman, Thea ;

Friend, Stephen ;

Stolovitzky, Gustavo .

ONCOLOGIST, 2015, 20 (05) :459-460

[2] Outcomes Following Gene Therapy in Patients With Severe Wiskott-Aldrich Syndrome [J].

Abina, Salima Hacein-Bey ;

Gaspar, H. Bobby ;

Blondeau, Johanna ;

Caccavelli, Laure ;

Charrier, Sabine ;

Buckland, Karen ;

Picard, Capucine ;

Six, Emmanuelle ;

Himoudi, Nourredine ;

Gilmour, Kimberly ;

McNicol, Anne-Marie ;

Hara, Havinder ;

Xu-Bayford, Jinhua ;

Rivat, Christine ;

Touzot, Fabien ;

Mavilio, Fulvio ;

Lim, Annick ;

Treluyer, Jean-Marc ;

Heritier, Sebastien ;

Lefrere, Francois ;

Magalon, Jeremy ;

Pengue-Koyi, Isabelle ;

Honnet, Geraldine ;

Blanche, Stephane ;

Sherman, Eric A. ;

Male, Frances ;

Berry, Charles ;

Malani, Nirav ;

Bushman, Frederic D. ;

Fischer, Alain ;

Thrasher, Adrian J. ;

Galy, Anne ;

Cavazzana, Marina .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2015, 313 (15) :1550-1563

[3] Biobank Participants' Preferences for Disclosure of Genetic Research Results: Perspectives From the OurGenes, OurHealth, OurCommunity Project [J].

Allen, Nicole L. ;

Karlson, Elizabeth W. ;

Malspeis, Susan ;

Lu, Bing ;

Seidman, Christine E. ;

Lehmann, Lisa Soleymani .

MAYO CLINIC PROCEEDINGS, 2014, 89 (06) :738-746

[4]

Almalki M, 2015, HEALTH INF SCI SYST, V3, DOI 10.1186/2047-2501-3-S1-S1

[5] 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

[6]

[Anonymous], HUM MUTAT

[7]

[Anonymous], DATABASE OXFORD

[8]

[Anonymous], COCHRANE DATABASE SY

[9]

[Anonymous], INF CONS HUM SUBJ RE

[10]

[Anonymous], HUM MUTAT

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