Human Genomes Platform Project

The HGPP investigated and prototyped a suite of services aimed at bolstering Australia’s capacity to share human omics research data securely and responsibly. Affordable DNA sequencing technology has revolutionised genomic research, allowing for the analysis of hundreds of thousands of genomes worldwide. This advancement has significantly improved the understanding of complex diseases, facilitated early detection and diagnosis, and expanded treatment options tailored to individuals.

Harnessing the full potential of genomic data requires comparing information from multiple individuals to form large cohorts for meaningful analysis. This often involves collaboration across different regions or countries, necessitating data to be easily accessible, linkable, searchable, and shareable, while ensuring privacy and ethical handling of sensitive information.

In Australia, various initiatives have emerged to store and manage genome data, each with its own technology and manual systems. However, accessing and sharing this data poses challenges, hindering collaborative research. To address these issues, Australian BioCommons initiated the HGPP in collaboration with leading Australian research institutes including the Garvan Institute for Medical Research, National Computational Infrastructure (NCI), QIMR Berghofer Medical Research Institute, The University of Melbourne Centre for Cancer Research, Children’s Cancer Institute and ZERO Childhood Cancer.

Opening up access to genomics data

As experts in trust and identity, the AAF played a crucial role in implementing best practice identity and access management solutions, to improve Australia’s capacity to access and share human omics research data.

John Scullen, AAF’s Head of Projects and Managed Services, said “The AAF deployed innovative technologies to enhance FAIRness (Findable, Accessible, Interoperable, Reusable) in genomic data sharing. By implementing standards from the Global Alliance for Genomic Health (GA4GH), the HGPP explored controlled access and sharing of data across repositories.

“AAF provided expertise in the discovery and solution phases of the federated identity and access management (IAM) sub-project. IAM is a collection of standards, policies and technologies, that enable a platform to determine whether to permit access to a user.

“In a federated environment such as the Australian and global genomics community, federated identity and access management enables loosely coupled systems to establish strong trust relationships for the purposes of data sharing

“The federated IAM sub-project team established the formal requirements of the system through community consultation. CILogon emerged as the most suitable solution and was implemented in the subsequent pilot phase.

“CILogon provides a means for researchers to use their employer’s organisational login or alternatives such as Google and ORCID to access resources instead of having to create a separate account. As well as allowing system administrators to configure access to resources through a user interface.” John further explains.

AAF experts were also involved in the Data Access Committees (DAC) sub-project. John says, “Navigating restrictions on the secondary use of human genome data, and decisions on how and to whom to grant access to data, requires significant human input by DACs. The Resource Entitlement Management System (REMS) software proved to be the best candidate, enabling DACs to quickly and easily determine whether a researcher’s data access request meets the permitted usage conditions for a specific dataset.”

Crucially, the Human Genomes Platform Project has established a template for other institutions to adopt and implement, supported by comprehensive documentation and training for researchers and IT infrastructure providers.

AAF has partnered with Microscopy Australia exploring impact tracking through persistent identifiers (PIDs).

Microscopy Australia are a consortium of university-based microscopy facilities that more than 3,500 researchers across Australia use each year. They aim to empower Australian science and innovation by making advanced microscopes accessible to all researchers.

One of the greatest challenges in research is to connect and report on distributed services and this incubator explores how richer reporting, impact tracking and usage data can be provided through ORCID iDs and PIDs across national research infrastructure.