Personalized medicine: What’s in it for rare diseases?

S. Schee Genannt Halfmann, L. Mählmann, L. Leyens, M. Reumann, A. Brand*

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

16 Citations (Web of Science)


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.
Original languageEnglish
Title of host publicationRare Diseases Epidemiology
Subtitle of host publicationUpdate and Overview
EditorsManuel Posada de la Paz, Domenica Taruscio, Groft Stephen C.
PublisherSpringer Verlag
Number of pages18
ISBN (Electronic)978-3-319-67144-4
ISBN (Print)978-3-319-67142-0
Publication statusPublished - 2017

Publication series

SeriesAdvances in Experimental Medicine and Biology

JEL classifications

  • i11 - Analysis of Health Care Markets
  • o30 - "Technological Change; Research and Development; Intellectual Property Rights: General"


  • Actionable big data analytics
  • Health data cooperatives
  • Managed entry agreement
  • Personalized medicine
  • Rare disease
  • Systematic early dialogue
  • cardiology
  • clinical research
  • empowerment
  • European Union
  • health care management
  • health care system
  • human
  • nutrition
  • oncology
  • patient care
  • personalized medicine
  • priority journal
  • rare disease

Cite this