Rare Disease has been identified by the Global Alliance for Genomics and Health as one of two key areas where a collaborative data-sharing approach has the most immediate potential to directly benefit patients.
The Australian Genomics Flagship model is designed to drive our research into nationwide implementation of genomic testing, integrating with the four programs above as frameworks for translation.
Each Flagship project is underpinned by strong existing national and international clinical, diagnostic and research partnerships to support a ‘virtuous cycle’ of rapid translation and implementation via ready exchange of information between clinicians and researchers to evaluate pathogenicity, gene discovery and the development of innovative diagnostic tools.
The scope of the Australian Genomics Flagships includes baseline mapping of current practice across states through to consideration of the “blue sky” potential by the end of the program. We envisage that Australian Genomics will contribute to current programs of work already underway and we will use a number of different study designs within and across the different Flagships, depending on current and proposed future activities, and the outcomes to be evaluated.
Four Rare Disease Flagship projects have been selected for initial focus with the potential to expand to other activities over the next five years.