Re-Thinking How We Share Data: A National Approach to Genomic Data Sharing in The Australian Genomics Health Alliance

Dr Marie-Jo Brion2

1QIMR Berghofer Medical Research Institute, Brisbane, Australia (AUS)
2Australian Genomics Health Alliance, Melbourne, Australia

Introduction: Data sharing is vital in genomics, where research and new discoveries typically rely on the availability of large and diverse datasets. However, there are many barriers to successful data sharing, including technical and governance challenges. The Australian Genomics Health Alliance (Australian Genomics) is developing national approaches to sharing genomic data and exploring different ways in which data sharing can be achieved.

Method: Australian Genomics comprises 80 organisations and 18 clinical flagship projects on rare disease and cancer. It has centralised, nationally co-ordinated processes around consent and ethics, with participant recruitment and clinical data collection operational at 32 clinical sites across Australia. From this, its Data Program is ingesting, storing, and supporting the re-use and sharing of genomic data for clinical and research purposes.

Results: Australian Genomics has implemented three approaches to sharing genomic data: 1) a centralised repository for access to individual genomic data files, for approved researchers with ethically-approved projects (‘Genomic Data Repository’); 2) a controlled access, web-based, interactive data platform with real-time queries and visualisations of aggregated, summary-level genomic data (‘Variant Atlas’);  3) a cloud-based variant-sharing platform for automated sharing of clinically-reported classifications and supporting evidence, from diagnostic genomic testing (‘Shariant’).

Conclusion: Valuable forms of genomic data sharing can be attained with platforms that support sharing different categories of genomic data and information. This includes individual-level datasets, aggregated summary data, and classifications and evidence summaries, for the benefit of different user groups.


Biography:

Dr. Marie-Jo Brion is the Data Program Manager for the Australian Genomics Health Alliance. Australian Genomics is a national network of over 400 members and 80 partner organisations, conducting research to inform use of genomics in mainstream healthcare. Marie-Jo manages the delivery of its national infrastructure for collecting, storing and using clinical and genomic data.  She has a PhD in Epidemiology from the University of Bristol UK, and has conducted cross-population and genetic cohort studies in the USA, Brazil and Australia. Marie-Jo is passionate about ethical data sharing for medical research.

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