Interactive Clinical Pedigree Visualization Using an Open Source Pedigree Drawing Engine

  • João Miguel SantosEmail author
  • Beatriz Sousa Santos
  • Leonor Teixeira
Conference paper
Part of the Lecture Notes in Computer Science book series (LNCS, volume 9169)


Advances in Genetics have revealed that many diseases are related to genetic factors. In this context, family health histories play an increasingly important role in healthcare, aiding practitioners in the diagnosis, risk assessment and treatment of various conditions. The clinical pedigree, a graphic representation combining family structure and clinical information, is a well-accepted tool to represent family health histories. At present this tool remains underused, possibly due to the lack of pedigree management tools in health information systems. OntoFam addresses this problem by offering a clinical pedigree information system that can be integrated with current health information systems. This paper presents the method used to create OntoFam’s interactive pedigree visualization by wrapping an existing open source pedigree drawing engine. The resulting environment allows practitioners to interactively view, create and manipulate pedigrees. This paper also describes the evaluation strategy that was developed to assess the system and includes its preliminary results.


Family health history Clinical family history Pedigree Health information system Electronic health record Ontofam Hemophilia care 



The authors would like to thank Dr.a Natália Martins, Dr.a Lúcia Borges and Dr.a Marina Costa for their collaboration and valuable suggestions and observations.


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Copyright information

© Springer International Publishing Switzerland 2015

Authors and Affiliations

  • João Miguel Santos
    • 1
    Email author
  • Beatriz Sousa Santos
    • 1
    • 2
  • Leonor Teixeira
    • 2
    • 3
  1. 1.DETI/Department Electrónica, Telecomunicações e InformáticaUniversidade de AveiroAveiroPortugal
  2. 2.IEETA/Instituto de Engenharia Electrónica e TelemáticaUniversidade de AveiroAveiroPortugal
  3. 3.DEGEI/Department Economia, Gestão e Engenharia IndustrialUniversidade de AveiroAveiroPortugal

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