Personalised Medicine Possible With Real-Time Integration of Genomic and Clinical Data To Inform Clinical Decision-Making.

Despite widespread use of genomic sequencing in research, there are gaps in our understanding of the performance and provision of genomic sequencing in clinical practice. The Melbourne Genomics Health Alliance (the Alliance), has been established to determine the feasibility, performance and impact of using genomic sequencing as a diagnostic tool. The Alliance has partnered with BioGrid Australia to enable the linkage of genomic sequencing, clinical treatment and outcome data for this project. This integrated dataset of genetic, clinical and patient sourced information will be used by the Alliance to evaluate the potential diagnostic value of genomic sequencing in routine clinical practice. This project will allow the Alliance to provide recommendations to facilitate the integration of genomic sequencing into clinical practice to enable personalised disease treatment.

BioGrid Australia and GRHANITE™: privacy-protecting subject matching.

BioGrid Australia provide infrastructure for research currently spanning 16 hospital-based clinical institutions and 50 databases across Victoria, Australia. To-date BioGrid have utilised a probabilistic record linkage engine (Sun Oracle Java CAPS eIndex) that utilises patient identifiers (albeit in a secure manner) during record linkage. BioGrid are now incorporating privacy-protecting record linkage technology from the University of Melbourne Rural Health Academic Centre (GRHANITE™). For the first time in Australia, the GRHANITE™technology is allowing primary care data linkage projects to happen on a large scale (70 sites, 200 planned to date). By utilising GRHANITE™privacy-protecting record linkage technologies, BioGrid are now able to overcome the privacy issues inherent in linking data across national jurisdictional boundaries. By utilising GRHANITE™privacy-protecting record linkage technologies all inter-jurisdictional public health and hospital clinical data collected by BioGrid can be systematically linked to primary care data for research for the first time. This paper describes the architecture of the combined BioGrid and GRHANITE™systems, provides evidence of the efficacy of the linkage technologies and heralds the start of a new era in privacy-protected, record linked research in Australia.

The molecular medicine informatics model (MMIM).

In 2005 a major collaboration in Melbourne, Australia successfully implemented a major medical informatics infrastructure. The convergence of life sciences, healthcare, and information technology is now driving research into the fundamentals of disease causation and toward tailoring individualized treatment. The Molecular Medicine Informatics Model (MMIM) is a 'virtual' research repository of clinical, laboratory and genetic data sets. Integrated data, physically located within independent hospital and research organisations can be searched and queried seamlessly via a federated data integrator. Researchers must gain authorisation to access data, and obtain permission from the data owners before the data can be accessed. The legal and ethical issues surrounding the use of this health data have been addressed so data complies with privacy requirements. The MMIM platform also record links individual cases across multiple institutions and multiple clinical specialties. Significant research outcomes in epilepsy and colorectal cancer have already been enabled by the MMIM research platform. The infrastructure of MMIM enables discovery research to be accessible via the Web with security, intellectual property and privacy addressed.

The Molecular Medicine Informatics Model (MMIM).

In 2005, a major collaboration in Melbourne Australia successfully completed implementing a major medical informatics infrastructure - this is now being used for discovery research and has won significant expansion funding for 2006 - 2009. The convergence of life sciences, healthcare, and information technology is now driving research into the fundamentals of disease causation. Key to enabling this is collating data in sufficient numbers of patients to ensure studies are adequately powered. The Molecular Medicine Informatics Model (MMIM) is a 'virtual' research repository of clinical, laboratory and genetic data sets. Integrated data, physically located within independent hospital and research organisations can be searched and queried seamlessly via a federated data integrator. Researchers must gain authorisation to access data, and inform/obtain permission from the data owners, before the data can be accessed. The legal and ethical issues surrounding the use of this health data have been addressed so data complies with privacy requirements. The MMIM platform has also solved the issue of record linking individual cases and integrating data sources across multiple institutions and multiple clinical specialties. Significant research outcomes already enabled by the MMIM research platform include epilepsy seizure analyses for responders / non responders to therapy; sensitivity of faecal occult blood testing for asymptomatic colorectal cancer and advanced adenomas over a 25-year experience in colorectal cancer screening; subsite-specific colorectal cancer in diabetic and non diabetic patients; and the influence of language spoken on colorectal cancer diagnosis, management and outcomes. Ultimately the infrastructure of MMIM enables discovery research to be accessible via the Web with security, intellectual property and privacy addressed.