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

Chapter
First Online:
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1031)

Abstract

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.

Keywords

Personalized medicine Rare disease Health data cooperatives Actionable big data analytics Systematic early dialogue Managed entry agreement 
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Notes

Acknowledgment

Part of the research leading to this book chapter has received funding from the European Union Seventh Framework Programme (FP7/2007–2013) under grant agreement No. 602139 (CSA PerMed, 2013–2015) and under grant agreement No. 305690 (RARE-Bestpractices, 2013–2016).

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Copyright information

© Springer International Publishing AG 2017

Authors and Affiliations

  1. 1.Maastricht Economic and Social Research Institute on Innovation and Technology (MERIT)Maastricht UniversityMaastrichtThe Netherlands
  2. 2.Department of Psyciatry (UPK)University of BaselBaselSwitzerland
  3. 3.SwissmedicBern 9Switzerland
  4. 4.IBM Research–ZurichRueschlikonSwitzerland
  5. 5.Department of International Health, Faculty of Health, Medicine and Life SciencesMaastricht UniversityMaastrichtThe Netherlands

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