Personalized Medicine: What's in it for Rare Diseases?

被引:29
作者
Halfmann, Sebastian Schee Genannt [1 ]
Mahlmann, Laura [1 ,2 ]
Leyens, Lada [1 ,3 ]
Reumann, Matthias [1 ,4 ]
Brand, Angela [1 ,5 ]
机构
[1] Maastricht Univ, Maastricht Econ & Social Res Inst Innovat & Techn, Boschstr 24, NL-6211 AX Maastricht, Netherlands
[2] Univ Basel, Dept Psyciatry UPK, Wilhelm Klein Str 27, CH-4012 Basel, Switzerland
[3] Swissmedic, Hallerstr 7, CH-3000 Bern 9, Switzerland
[4] IBM Res Zurich, Saeumerstr 4, CH-8803 Ruschlikon, Switzerland
[5] Maastricht Univ, Fac Hlth Med & Life Sci, Dept Int Hlth, Duboisdomein 30, NL-6229 GT Maastricht, Netherlands
来源
RARE DISEASES EPIDEMIOLOGY: UPDATE AND OVERVIEW, 2ND EDITION | 2017年 / 1031卷
关键词
Personalized medicine; Rare disease; Health data cooperatives; Actionable big data analytics; Systematic early dialogue; Managed entry agreement; HEALTH-CARE; BIG DATA; PHARMACOGENOMICS; CHALLENGES;
D O I
10.1007/978-3-319-67144-4_22
中图分类号
R1 [预防医学、卫生学];
学科分类号
1004 ; 120402 ;
摘要
Personalised Medicine has become a reality over the last years. The emergence of 'omics' and big data has started revolutionizing healthcare. New 'omics' technologies lead to a better molecular characterization of diseases and a new understanding of the complexity of diseases. The approach of PM is already successfully applied in different healthcare areas such as oncology, cardiology, nutrition and for rare diseases. However, health systems across the EU are often still promoting the 'one-size fits all' approach, even if it is known that patients do greatly vary in their molecular characteristics and response to drugs and other interventions. To make use of the full potentials of PM in the next years ahead several challenges need to be addressed such as the integration of big data, patient empowerment, translation of basic to clinical research, bringing the innovation to the market and shaping sustainable healthcare systems.
引用
收藏
页码:387 / 404
页数:18
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