HerediCaRe: Dokumentations- und IT-Lösung eines spezialisierten Registers für erblichen Brust- und Eierstockkrebs

Zusammenfassung

Das nationale Register „HerediCaRe“ für die Evaluation und Verbesserung der risiko-adjustierten Prävention bei erblichem Brust- und Eierstockkrebs ist eines von sechs vom BMBF geförderten „modellhaften Registern in der Versorgungsforschung“. In diesem Beitrag beschreiben und diskutieren wir die zur standardisierten Datenerfassung gewählte Dokumentations- und IT-Lösung auf der Basis der zuvor definierten speziellen funktionalen Anforderungen. Die Dokumentation gliedert sich in verschiedene patientenindividuell einzusetzende Module, die auf einem zuvor festgelegten Merkmalskatalog beruhen. Aufgrund spezieller funktionaler Anforderungen wurde eine eigene Datenerfassungsanwendung auf der Basis von ORACLE und ORACLE Forms entwickelt und implementiert. Die speziellen Anforderungen umfassten u. a. die Einbindung grafischer Stammbaumdarstellungen, den strukturierten Upload von Stammbaumdaten und molekulargenetischen Informationen, die automatisierte Altdatenübernahme aus dem Vorgängersystem, sowie die freie Programmierbarkeit von beliebig komplexen Datenbankabfragen zur zentralen Datenqualitätsprüfung. In die Anwendung ist eine Datenbank zur patienten-unabhängigen Verwaltung genetischer Risikovarianten nahtlos integriert und mit den patientenbezogenen Daten verknüpft. Die Vor- und Nachteile der gewählten IT-Lösung werden kritisch diskutiert. Insgesamt kommen wir zu der Schlussfolgerung, dass es angesichts der komplexen Dokumentation und der speziellen Funktionsanforderungen alternativ keine fertigen Softwareprodukte zu der von uns gewählten Eigenentwicklung existieren.

Abstract

The national registry „HerediCaRe“ for the evaluation and improvement of risk-adjusted prevention in hereditary breast and ovarian cancer is one of six „model registries in health services research“ funded by the BMBF. In this paper, we describe and discuss the documentation and IT solution chosen for standardized data collection based on the specific functional requirements previously defined. The documentation is divided into different modules to be used individually for each patient, which are based on a previously defined catalog of documentation items. Due to special functional requirements, a specific data entry application based on ORACLE and ORACLE Forms was developed and implemented. The specific requirements included the integration of graphical pedigree representations, the structured upload of pedigree data and molecular genetic information, the automated transfer of old data from the previous system, as well as the free programmability of complex database queries for central data quality control. A database for patient-independent management of genetic risk variants was seamlessly integrated into the application and linked to the patient-related data. The advantages and disadvantages of the chosen IT solution are critically discussed. Overall, we come to the conclusion that, in view of the complex documentation and the special functional requirements, there are no alternative ready-made software products to the in-house development we have chosen.

Schlüsselwörter

erblicher Brust- und Eierstockkrebs - HerediCaRe - modellhafte Register in der Versorgungsforschung - Dokumentation - IT-Lösung

Key words

hereditary breast and ovarian cancer - HerediCaRe - model registers in health services research - documentation - IT solution

Publication History

Article published online:
03 November 2021

• Literatur

• 1 Engel C, Fischer C, Zachariae S. et al Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance. Int J Cancer 2020; 146: 999-1009
• 2 Bick U, Engel C, Krug B. et al High-risk breast cancer surveillance with MRI: 10-year experience from the German consortium for hereditary breast and ovarian cancer. Breast Cancer Res Treat 2019; 175: 217-228
• 3 Engel C, Rhiem K, Hahnen E. et al Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history. BMC Cancer 2018; 18: 265
• 4 Kast K, Rhiem K, Wappenschmidt B. et al Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. J Med Genet 2016; 53: 465-471
• 5 Kast K, Schmutzler RK, Rhiem K. et al Validation of the Manchester scoring system for predicting BRCA1/2 mutations in 9,390 families suspected of having hereditary breast and ovarian cancer. Int J Cancer 2014; 135: 2352-2361
• 6 Rhiem K, Engel C, Graeser M. et al The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study. Breast Cancer Res 2012; 14: R156
• 7 Graeser MK, Engel C, Rhiem K. et al Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 2009; 27: 5887-5892
• 8 Meindl A, Hellebrand H, Wiek C. et al Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 2010; 42: 410-414
• 9 Hauke J, Horvath J, Gross E. et al Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancer Med 2018; 7: 1349-1358
• 10 Borde J, Ernst C, Wappenschmidt B. et al Performance of breast cancer polygenic risk scores in 760 female CHEK2 germline mutation carriers. J Natl Cancer Inst 2021; 113: 893-899
• 11 Weber-Lassalle N, Borde J, Weber-Lassalle K. et al Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer. Breast Cancer Res 2019; 21: 55
• 12 Weber-Lassalle N, Hauke J, Ramser J. et al BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. Breast Cancer Res 2018; 20: 7
• 13 Wappenschmidt B, Hauke J, Faust U. et al Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer. Geburtshilfe Frauenheilkd 2020; 80: 410-429
• 14 Lee A, Mavaddat N, Wilcox AN. et al BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors. Genet Med 2019; 21: 1708-1718
• 15 Carver T, Hartley S, Lee A. et al CanRisk Tool-A Web Interface for the Prediction of Breast and Ovarian Cancer Risk and the Likelihood of Carrying Genetic Pathogenic Variants. Cancer Epidemiol Biomarkers Prev 2021; 30: 469-473
• 16 Makinen VP, Parkkonen M, Wessman M. et al High-throughput pedigree drawing. Eur J Hum Genet 2005; 13: 987-989
• 17 Lowe B, Wahl I, Rose M. et al A 4-item measure of depression and anxiety: validation and standardization of the Patient Health Questionnaire-4 (PHQ-4) in the general population. J Affect Disord 2010; 122: 86-95
• 18 Rippinger N, Fischer C, Haun MW. et al Cancer surveillance and distress among adult pathogenic TP53 germline variant carriers in Germany: A multicenter feasibility and acceptance survey. Cancer 2020; 126: 4032-4041
• 19 Plon SE, Eccles DM, Easton D. et al Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 2008; 29: 1282-1291