Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system

TY - JOUR

T1 - Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system

AU - Bernstein, Inge T

AU - Lindorff-Larsen, Karen

AU - Timshel, Susanne

AU - Brandt, Carsten

AU - Dinesen, Birger

AU - Fenger, Mogens

AU - Gerdes, Anne-Marie Axø

AU - Iversen, Lene Hjerrild

AU - Madsen, Mogens Rørbæk

AU - Okkels, Henrik

AU - Sunde, Lone E. M.

AU - Rahr, Hans

AU - Wikman, Friedrick P

AU - Rossing, Niels Nygaard

N1 - © 2011 Wiley-Liss, Inc.

PY - 2011/5

Y1 - 2011/5

N2 - The Danish HNPCC register is a publically financed national database. The register gathers epidemiological and genomic data in HNPCC families to improve prognosis by screening and identifying family members at risk. Diagnostic data are generated throughout the country and collected over several decades. Until recently, paper-based reports were sent to the register and typed into the database. In the EC cofunded-INFOBIOMED network of excellence, the register was a model for electronic exchange of epidemiological and genomic data between diagnosing/treating departments and the central database. The aim of digitization was to optimize the organization of screening by facilitating combination of genotype-phenotype information, and to generate IT-tools sufficiently usable and generic to be implemented in other countries and for other oncogenetic diseases. The focus was on integration of heterogeneous data, elaboration, and dissemination of classification systems and development of communication standards. At the conclusion of the EU project in 2007 the system was implemented in 12 pilot departments. In the surgical departments this resulted in a 192% increase of reports to the database. Several gaps were identified: lack of standards for data to be exchanged, lack of local databases suitable for direct communication, reporting being time-consuming and dependent on interest and feedback.

AB - The Danish HNPCC register is a publically financed national database. The register gathers epidemiological and genomic data in HNPCC families to improve prognosis by screening and identifying family members at risk. Diagnostic data are generated throughout the country and collected over several decades. Until recently, paper-based reports were sent to the register and typed into the database. In the EC cofunded-INFOBIOMED network of excellence, the register was a model for electronic exchange of epidemiological and genomic data between diagnosing/treating departments and the central database. The aim of digitization was to optimize the organization of screening by facilitating combination of genotype-phenotype information, and to generate IT-tools sufficiently usable and generic to be implemented in other countries and for other oncogenetic diseases. The focus was on integration of heterogeneous data, elaboration, and dissemination of classification systems and development of communication standards. At the conclusion of the EU project in 2007 the system was implemented in 12 pilot departments. In the surgical departments this resulted in a 192% increase of reports to the database. Several gaps were identified: lack of standards for data to be exchanged, lack of local databases suitable for direct communication, reporting being time-consuming and dependent on interest and feedback.

U2 - 10.1002/humu.21435

DO - 10.1002/humu.21435

M3 - Journal article

SN - 1059-7794

VL - 32

SP - 551

EP - 556

JO - Human Mutation

JF - Human Mutation

IS - 5

ER -