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In the realm of genomics, the study of an individual’s genes and their interactions with the environment is a pivotal field. The sequencing and analysis of genomic data hold the promise of advancing disease diagnosis, treatment, and prevention. However, researchers often grapple with specific genomic questions, necessitating access to extensive and diverse datasets.
To address this challenge, a data-sharing system has been developed by CSIRO, Australia’s national science agency, known as sBeacon, which enables researchers worldwide to collaborate and exchange genomic information efficiently. This technological innovation is transforming the accessibility of genomic data, levelling the playing field for smaller and less economically advantaged countries and institutions.
At the heart of this transformation are beacon systems, a technology that securely transfers genomic data between global hospitals and research institutions. Each institution establishes its beacon, allowing researchers and clinicians to activate it for data requests or “queries.”
These queries are met with responses from a global network of participating institutions, each illuminating its beacon to share specific data facets. The system’s power grows with each additional beacon activated, with only 54 organisations adopting this technology as of March 2023.
However, envision a scenario where a faster, more cost-effective, and accessible system emerges. This vision is being turned into reality by a team of dedicated researchers aiming to remove barriers in genomic data sharing. Dr. Denis Bauer leads the team that leads the Transformational Bioinformatics group, driven by a passion for eliminating these barriers. Her vision is for every small hospital, health agency, and research facility to have the capability to activate their beacon.
Their collaborative effort with a national collaborative research partnership that is piloting a whole-of-system approach to integrating genomics into healthcare that is based on federation principles and Genomics England, a British company set up and owned by the United Kingdom Department of Health and Social Care to run the 100,000 Genomes Project, has yielded Serverless Beacon, or ‘sBeacon.’ Unlike other beacon systems, sBeacon is cloud-native, eliminating the need for a central database and ensuring data ownership remains with the institution, safeguarding patient information.
The technology introduces another groundbreaking feature—it charges institutions only when their beacon is queried, making it 1800 times faster and around 10 times more cost-effective than existing implementations. sBeacon significantly reduces entry barriers for smaller or economically disadvantaged organisations, facilitating their participation in the beacon network.
The goal is to make genomic data sharing more accessible and representative of diverse populations. Historically, less genomic data has been available from non-Caucasian groups, and sBeacon seeks to change this by welcoming more institutions into the beacon network.
Clinicians and researchers should have access to data that mirrors the population’s diversity, enabling more effective treatment of patients with complex diseases such as cancer and cardiovascular conditions. sBeacon offers real-time data analysis capabilities, potentially revolutionising the approach to these challenging medical conditions.
OpenGov Asia earlier reported that CSIRO is developing a DNA reference library which is set to transform how Australia monitors biodiversity along with the library’s first campaign which is supported by a founding partner.
The National Biodiversity DNA Library (NBDL) aims to create a complete collection of DNA reference sequences for all known Australian animal and plant species. Just like COVID-19 wastewater testing, it will enable DNA detected in the environment to be assigned to the species to which it belongs.
