Enhancing secure and responsible sharing of human genomics research data

Human genomics is one of the most active areas of cutting-edge life science research and generates enormous amounts of data. Helping us to understand the genetic basis for health, the human genome also offers clues about the causes, detection, diagnosis and treatment of diseases. Meaningful information comes from comparing an individual’s genomic information to a bigger group of genomes with known characteristics. The insights become more powerful when comparisons are made with larger numbers of individuals, which can sometimes be difficult with rare diseases and genetic variations.

Optimal results come from combining matching data from different studies undertaken in a range of places. Dispersed treasure troves of data need to be shared between researchers on a global scale, which requires the valuable information to be findable, searchable, shareable and able to be linked to analysis platforms.

Many Australian human genome sequencing and analysis efforts have developed in-house solutions to manage their research data. Different technologies have been used for storing genome data and they are described in different ways. When researchers find data they would like to use from another source, they encounter manual, bespoke and opaque systems to request access.

Despite wanting to share data, most Australian researchers have no convenient way to expose what they have or distribute the data to trusted colleagues. For those that try, the task of sharing is complicated and often restricted by different laws in different jurisdictions. It’s not surprising, as there are few things more personal than genomic information, and the privacy of individuals should be protected. It is paramount that genomic data is used by researchers in a safe, ethical and secure way.

The capability to securely and responsibly share human genome research data nationally and internationally will be enhanced by the Australian BioCommons project “Global Technologies and Standards for Sharing Human Genome Research Data”, commonly known as the ‘Human Genomes Platform Project’. Experts in human genomics from many of Australia’s largest human genome sequencing and analysis efforts are working as part of a team that will deliver fundamental improvements in data management and drive access to new capabilities that will enable new science from valuable genomic data.

With co-investment from the Australian Research Data Commons and Bioplatforms Australia, BioCommons brought together valuable staffing contributions from ZERO Childhood Cancer, Children’s Cancer Institute, Australian Access Federation, University of Melbourne Centre for Cancer Research, Australian Genomics, National Computational Infrastructure, The Garvan Institute of Medical Research and QIMR Berghofer Medical Research Institute for this exciting new $3.3M collaborative project.

The large multidisciplinary team will investigate international best practice technologies for human genome data sharing, and deploy them for the first time in Australia in the form of a ‘services toolbox’ for use by the organisations that hold most human genomes collected for research in Australia. The toolbox will build on existing standards drawn up by respected initiatives including the Global Alliance for Genomic Health (GA4GH) and ELIXIR.

Critically, the project will facilitate ongoing adoption and deployment of these technologies at other organisations by establishing a working template for sharing widely.

Some aspects of this work build on a previous BioCommons project. For an overview of this project you can watch the webinar Establishing Gen3 to enable better human genome data sharing in Australia.

Learn more about the specific aims of the Human Genomes Platform Project here.

The HGPP is an Australian BioCommons project with co-investment from the ARDC (https://doi.org/10.47486/PL032) and BPA, both supported by the Australian Government’s National Collaborative Research Investment Strategy (NCRIS) . It receives in-kind support from the AAF, CCI, Garvan Institute, NCI, QIMR Berghofer and UMCCR.