The Blueprint for a National Approach to Genomic Information Management (NAGIM Blueprint) has been published by Queensland Genomics.

In 2017, the COAG Health Council endorsed a National Genomics Health Policy Framework, with an Implementation Plan for the framework developed and released in 2018. The Implementation Plan outlined a priority areas including “data”. The Australian Health Ministers' Advisory Council (AHMAC) commissioned Queensland Health to develop a National Approach to Genomics Information Management (NAGIM) in 2019 with a project led by Queensland Genomics and its project partner CSIRO. The NAGIM supports harmonisation of investments in, and linkage between, clinical delivery systems and research endeavour and infrastructure to progress rapid and safe adoption of medical genomics.

The NAGIM Project took a highly collaborative approach working with jurisdictional health agencies across Australia, as well as research and infrastructure groups and experts in genomics and data management to produce two key outputs. The first, the NAGIM Report, defined the framework for the project, and reported on investigations into current clinical genomics activities and related data management within each state and territory in Australia. The NAGIM Report was intended for the Project Reference Group, including opportunities for future activities, and not for public release. The second output, was the NAGIM Blueprint, intended for public release to support implementers working in jurisdictional health agencies and research groups across Australia.

The NAGIM Blueprint sets out to represent a future state for genomics information management in Australia, but pragmatically recognises the varying starting points for actors in the system, and hence positions horizons of activity and collaborative action. In accordance with the NAGIM Project scope, the NAGIM Blueprint sets out a series of principles to guide future implementations, a genomic data categorisation framework to provide a consistent language to describe genomic data, a governance framework, and options for logical architectures for genomic information supporting interoperability in the sector.

I was pleased to be the lead author for both the NAGIM Report and NAGIM Blueprint, but this project could not have been achieved without the leadership of David Bunker (Queensland Genomics) and Keith McNeil (Queeensand Health), the support of David Hansen (Australian E-Health Research Centre) (CSIRO), and the team at Voronoi without whom a national engagement at the height of the COVID-19 pandemic would not have been possible.

I'd also like to thank the many clincians and officials in commonwealth, state and territory governments and agencies, and researchers from across Australia including Australian Genomics, Melbourne Genomics, Queensland Genomics and the National Centre for Indigenous Genomics. All these people gave generously of their time, provided invaluable feedback on draft documents, and encouraged us to deliver this project despite the advent of a global pandemic half-way through the project.

It is my hope that this report will inform and support the uptake of genomics information management for both clinical and research use in Australia. The NAGIM Blueprint is of course only one part of this journey, which I have no doubt will be a fascinating one.

The Blueprint may be found of the Queensland Genomics site here.