Interactive Clinical Pedigree Visualization Using an Open Source Pedigree Drawing Engine
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.
KeywordsFamily 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.
- 1.Kmiecik, T., Sanders, D.: Integration of Genetic and Familial Data into Electronic Medical Records and Healthcare Processes (2009). www.surgery.northwestern.edu/docs/KmiecikSandersArticle.pdf. Accessed 13 November 2012
- 13.HaploPainter Team. HaploPainter Manual 1.0 (2012). http://haplopainter.sourceforge.net/HaploPainterManual_V1.0.pdf, 08 December 2012
- 15.Hughes Risk Apps. Hughes Risk Apps User Guide (2009). http://www.hughesriskapps.com/Files/UserGuide-26x.aspx, 08 December 2012
- 20.Cohn, W.F., Ropka, M.E., Pelletier, S.L., Barrett, J.R., Kinzie, M.B., Harrison, M.B., Liu, Z., Miesfeldt, S., Tucker, A.L., Worrall, B.B., Gibson, J., Mullins, I.M., Elward, K.S., Franko, J., Guterbock, T.M., Knaus, W.A.: Health Heritage ©, a web-based tool for the collection and assessment of family health history: initial user experience and analytic validity. Public Health Genomics 13, 477–491 (2010)CrossRefGoogle Scholar
- 21.Wong, L.: Visualization and manipulation of pedigree diagrams. Genome Inform Ser Workshop Genome Inform 11, 63–72 (2000)Google Scholar
- 22.U.S. Department of Health & Human Services. My Family Health Portrait (2009). http://familyhistory.hhs.gov/. Accessed 12 September 2014
- 24.Progeny Software, Progeny Clinical, version 8.0, (2011). http://www.progenygenetics.com/clinical/
- 25.Santos, J.M., Sousa Santos, B., Teixeira, L.: Using ontologies and semantic web technology on a clinical pedigree information system. In: Duffy, V.G. (ed.) DHM 2014. LNCS, vol. 8529, pp. 448–459. Springer, Heidelberg (2014)Google Scholar
- 26.Trager, E.H., Khanna, R., Marrs, A.: Comparison of Pedigree Drawing Programs (2011). http://eyegene.ophthy.med.umich.edu/madeline/comparisons/. Accessed 20 December 2014
- 27.Trager, E.H., Khanna, R., Marrs, A.: Madeline 2.0 Pedigree Drawing Engine Documentation (2011). http://eyegene.ophthy.med.umich.edu/madeline/documentation.php. Accessed 20 December 2014
- 28.Khanna, R., Trager, E.H.: Madeline 2.0 Public Web Service (2007). http://eyegene.ophthy.med.umich.edu/madeline/webservice.php. Accessed 1 October 2014
- 30.World Federation of Hemophilia. Guidelines for the Management of Hemophilia (2nd ed.) (2012). http://www.wfh.org/en/resources/wfh-treatment-guidelines