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A modular approach to disease registry design: Successful adoption of an internet‐based rare disease registry
Author(s) -
Bellgard Matthew I,
Macgregor Andrew,
Ja Fred,
Harvey Adam,
O'Leary Peter,
Hunter Adam,
Dawkins Hugh
Publication year - 2012
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22154
Subject(s) - interoperability , the internet , modular design , scalability , disease registry , computer science , world wide web , disease , data science , database , medicine , pathology , operating system
There is a need to develop Internet‐based rare disease registries to support health care stakeholders to deliver improved quality patient outcomes. Such systems should be architected to enable multiple‐level access by a range of user groups within a region or across regional/country borders in a secure and private way. However, this functionality is currently not available in many existing systems. A new approach to the design of an Internet‐based architecture for disease registries has been developed for patients with clinical and genetic data in geographical disparate locations. The system addresses issues of multiple‐level access by key stakeholders, security and privacy. The system has been successfully adopted for specific rare diseases in Australia and is open source. The results of this work demonstrate that it is feasible to design an open source Internet‐based disease registry system in a scalable and customizable fashion and designed to facilitate interoperability with other systems. © 2012 Wiley Periodicals, Inc.