HemaSphere (Mar 2021)

Precision Medicine in Hematology 2021: Definitions, Tools, Perspectives, and Open Questions

  • Peter Valent,
  • Alberto Orfao,
  • Stefan Kubicek,
  • Philipp Staber,
  • Torsten Haferlach,
  • Michael Deininger,
  • Karoline Kollmann,
  • Thomas Lion,
  • Irene Virgolini,
  • Georg Winter,
  • Oliver Hantschel,
  • Lukas Kenner,
  • Johannes Zuber,
  • Florian Grebien,
  • Richard Moriggl,
  • Gregor Hoermann,
  • Olivier Hermine,
  • Michael Andreeff,
  • Christoph Bock,
  • Tariq Mughal,
  • Stefan N. Constantinescu,
  • Robert Kralovics,
  • Veronika Sexl,
  • Radek Skoda,
  • Giulio Superti-Furga,
  • Ulrich Jäger

DOI
https://doi.org/10.1097/HS9.0000000000000536
Journal volume & issue
Vol. 5, no. 3
p. e536

Abstract

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During the past few years, our understanding of molecular mechanisms and cellular interactions relevant to malignant blood cell disorders has improved substantially. New insights include a detailed knowledge about disease-initiating exogenous factors, endogenous (genetic, somatic, epigenetic) elicitors or facilitators of disease evolution, and drug actions and interactions that underlie efficacy and adverse event profiles in defined cohorts of patients. As a result, precision medicine and personalized medicine are rapidly growing new disciplines that support the clinician in making the correct diagnosis, in predicting outcomes, and in optimally selecting patients for interventional therapies. In addition, precision medicine tools are greatly facilitating the development of new drugs, therapeutic approaches, and new multiparametric prognostic scoring models. However, although the emerging roles of precision medicine and personalized medicine in hematology and oncology are clearly visible, several questions remain. For example, it remains unknown how precision medicine tools can be implemented in healthcare systems and whether all possible approaches are also affordable. In addition, there is a need to define terminologies and to relate these to specific and context-related tools and strategies in basic and applied science. To discuss these issues, a working conference was organized in September 2019. The outcomes of this conference are summarized herein and include a proposal for definitions, terminologies, and applications of precision and personalized medicine concepts and tools in hematologic neoplasms. We also provide proposals aimed at reducing costs, thereby making these applications affordable in daily practice.