National Approach to Genomics Information Management
Ensure Australia’s digital health foundations support the advancement of genomics.
The National Approach to Genomic Information Management (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:
- 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 developed for consideration by the Project Reference Group for Human Genetics.
- NAGIM Blueprint – sets out a series of principles to guide decision-making on the responsible collection, storage, use and management of genomic data. The NAGIM Blueprint is available to the public to support implementers working in jurisdictional health agencies and research groups across Australia.
about the NAGIM BLUEPRINT
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.
The Blueprint includes a:
- series of principles to guide future implementations;
- genomic data categorisation framework to provide a consistent language to describe genomic data; and a
- governance framework and options for logical architectures for genomic information supporting interoperability in the sector.
Background
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”. 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.
BLUEPRINT for a National Approach to Genomic Information Management
Types of data covered by the Blueprint
What do we mean when we say genomic data?
A broad definition of genomic data is required when considering a national blueprint for clinical, translational and research applications of genomics.
A data categorisation framework has been developed to allow the broader data required to support genomics to be identified. This is intended to cover genomic medicine, translational genomics and genomic research.
The categorisation framework identifies three broad groups of data classifications:
Genomic content
This groups all data that may traditionally have been considered ‘genomic data’, including data from clinical areas and research. It also covers genomic data from direct-to-consumer sources.
Clinical content
All genomic data activities require access to a range of clinical content to support decision-making, genomics interpretation and to support research.
Administrative content
This group includes all supporting information required to manage data governance and to support the broader discipline of genomics.
The NAGIM Blueprint adopts a principles-led approach that defines six broad domains of interest:
Consumers and communities
This domain explores attitudes and approaches needed to gain and maintain the trust of the broader community supporting their meaningful participation and involvement, and hence shared benefit from genomics.
Aboriginal and Torres Strait Islander Peoples
This domain addresses the specific needs of Aboriginal and Torres Strait Islander communities to ensure that genomics benefits these communities without repeating mistakes of the past.
Genomic research
This domain covers the needs and responsibilities of the research community as they relate to genomic discovery, as well as the management of sharing information.
Translational genomics
This domain explores the translation of genomic discovery to clinical care to advance our understanding of the cycle of research into practice, and practice informing research. It is a critical area bridging the interests of healthcare delivery and research.
Genomic medicine
This domain area covers the ongoing ‘mainstreaming’ of genomics in clinical care and the significant impact genomics will have on the way healthcare can be delivered.
A system for managing clinical genomic data
Queensland stakeholders manage and use genomic data within a single set of standards, policies and procedures.
Data management
This domain covers general principles required to ensure that data is managed appropriately, with effective governance and applicable standards across all domains of interest.
