Abstract

- Article -

Impact of integrating clinical and genetic information

Martin Dugas^1*, Claudia Schoch², Susanne Schnittger², Alexander Kohlmann², Wolfgang Kern², Torsten Haferlach² and Karl Überla¹

¹Department of Medical Informatics, Biometrics and Epidemiology (IBE), University of Munich
Marchioninistr. 15, D-81377 Munich, Germany
Email: dug@ibe.med.uni-muenchen.de
²Department of Internal Medicine III, University Hospital of Munich, Germany
Marchioninistr. 15, D-81377 Munich, Germany

*To whom correspondence should be addressed

Edited by E. Wingender; received November 30, 2001; accepted December 21, 2001; published March 15, 2002

Abstract

To assess the relevance of molecular markers it is required to combine clinical and genetic information. For reliable assessment of parameters relevant to diagnostics and therapy large patient collectives must be characterized both with respect to phenotype and genotype. Matching of genetic data like gene expression profiles, molecular genetics and cytogenetics with clinical data like follow-up, morphological findings and diagnoses involves integration of complex databases.
In the context of a nationwide leukemia research network in Germany we designed an integrated database covering both genetic and clinical data of patients. The system contains follow-up data and relevant laboratory modalities, i. e. cytomorphology, cytogenetics, molecular genetics, FISH, immunophenotyping and gene expression profiling.
So far 13541 cases from 7746 patients treated by 1225 physicians are documented. The data structure consists of up to 888 variables per case. From our experience, integration of clinical and genetic information requires significant efforts - including data protection issues -, but is feasible and improves data quality leading to faster and more reliable research results for the benefit of the patients.

Keywords: data integration, patient data, microarray, gene expression, cytogenetics, molecular genetics, leukemia