Developing a national disease registry: the German approach to a rare disease registry

Developing a national disease registry: the German approach to a rare disease registry T. Hartz @tobgerm University Medical Center Mainz, Germany Institute for Medical Biometry, Epidemiology and Informatics Working Group ehealth

OSSE Open-Source- Registersystem für Seltene Erkrankungen in der EU Dr. M. Muscholl 1, M. Lablans 1, Prof. Dr. TOF Wagner 2, Prof. Dr. Frank Ückert 1 1 University Medical Center Mainz, Germany 2 University Hospital Frankfurt, Germany

Background Funded by the German Ministry of Health (BMG) as part of the National Action Plan for Rare Diseases Action no. 29/52: Development of a prototypical registry

Problem of Isolated Applications Some results of a survey done 01/12: Very Professional Hobby, scientific project financing, treatment AND research, always in networks, PRIMARY information system, and:

Solution for Interoperability

Problem of (Semantic) Interoperability and also of MDS s

Solution for Semantics: Metadata Repository Biobank of Registry A Biobank of Registry B Sample Type Diagnosis Material Diagnosis liquid C83.7 liquid Burkitt-Lymphoma C83.7 Standardised Catalogues Burkitt-Lymphoma Sample Type MDR Material

Metadata Repository (MDR) and Data Sets Metadata Repository for a rare diseases includes one or more harmonized (minimal/report) data sets All disease specific items should be added in the MDR A bottom up method for quality assurance by intelligent retrieval of items peer-review-mechanism to merge items with identical meaning (e. g. by user groups)

Problem of Cooperation: Central Databases Databank 1 Science Data Request Databank 2 Central Search Science Data Upload Databank 3 Science Data

Solution for Cooperation: Decentral Search Databank 1 Science Data Exposé + Criteria Databank 2 Search Broker Science Data Exposé + Criteria Databank 3 Science Data

Solution for Cooperation: Decentral Search Databank 1 Science Data Datasets found! Request to User. Databank 2 Science Data No matching datasets. Search Broker Databank 3 Science Data No matching datasets.

Solution for Cooperation: Decentral Search Databank 1 Science Data Proposal, further data exchange,... Databank 2 Search Broker Science Data Databank 3 Science Data

Local Concept OSSE Registry Data Entry Pseudonymization OSSE- Registry Search

Local Concept OSSE Bridgehead Data Entry Registry based on other Software ETL OSSE- Bridgehead Search

Overall Concept Data Entry Data Entry OSSE- Registry Search Registry based on other Software ETL Pseudonymization OSSE- Bridgehead Search Search Based on Metadata Request (Decentral Search) Known Registries Registration OSSE- MDS [...] Requests Exposés Known Registries

all work is done! or is it not?

German Solution for Pseudonymisation (simplified) Biobank Treatment Robert Meier PID T : 0988888 ID-Management/ Pseudonymization Robert Meier PID T : 0988888 PID Register : WY0728i3 Lab ID: bl071234xx Lab ID: bl071234xx Register PID Register : WY0728i3

Solution for Matching Hans Schmidt 2.10.1965 _S SC CH HM MI ID DT T_ 0 1 1 0 1 1 0 0 1 0 1 0 0 1 1 0 0 0 1 0 Rainer Schnell, Tobias Bachteler and Jörg Reiher: Privacy-preserving record linkage using Bloom filters. BMC Medical Informatics and Decision Making 2009, 9:41

ID-Management/ Pseudonymization 1000101110000 PID global : ABC12345XY 1000101110000 1000101110000 ABC12345XY ABC12345XY Germany France Treatment Robert Meier PID T : 0988888 ID-Management/ Pseudonymization Robert Meier PID T : 0988888 PID Register : WY0728i3 Lab ID: bl071234xx PID global : ABC12345XY Lab ID: bl071234xx Register Treatment Robert Meier PID T : 0988888 ID-Management/ Pseudonymization Robert Meier PID T : 0988888 PID Register : WY0728i3 Lab ID: bl071234xx PID global : ABC12345XY Lab ID: bl071234xx Register PID global : ABC12345XY PID Register : WY0728i3 PID Register : WY0728i3

A glimpse into the future

Registry Editor OSSE registry editor Form Field Value

More than Technology: Best-Practice Support Templates Informed patient consent Generic data protection concept Model contracts Standard operating procedures All documents in German and English

Perspective for one exemplary disease OSSE- MDS Requests Known [...] Known Exposés Registries Registries MDR-based registry definition European patient identifier National RD Registry Decentral search National RD Registry National RD Registry National RD Registry National RD Registry

Our Strong Beliefs (and with it the definition of OSSE ) Even with a "patient consent" there will be no central database with substantial data. Instead a concept of SEVERAL reporting data sets or minimal data sets, each with a specific purpose, seems necessary. If more data is required (as it will nearly always be the case), cooperation in a decentral structure is advisable. Thanks to a meta data repository, data elements will be comparable and a standard (procedure for quality and ontology for understanding) can be implemented bottom up. Therefore a basic software package has to be given away for free, in which some reporting data sets could be already included.

Thanks for your attention. Questions? T. Hartz, hartz@uni-mainz.de www.imbei.de @tobgerm University Medical Center Mainz, Germany Institute for Medical Biometry, Epidemiology and Informatics Working Group ehealth