The Alliance’s shared clinical system for genomics, GenoVic, now offers additional tools and has recently completed transition to a new operating entity.
Additional capabilities and tools
Two accredited testing laboratories that use GenoVic now have access to additional capabilities that enhance existing workflows and enable the contribution of clinically interpreted variants to an Australia-wide database.
An Australian instance of PanelApp has now been integrated into GenoVic. Originally designed by Genomics England and available locally through a a partnership with Australian Genomics, PanelApp is a publicly-available knowledge-base that allows virtual gene panels related to human disorders to be created, stored and queried.
“GenoVic now has added functionality to take the gene panels utilised in a laboratory’s genomic testing workflow and query against the panels stored within PanelApp,” said Dr Natalie Thorne, who leads the Melbourne Genomics Innovation and Technology team. “This is in addition to the work undertaken to establish a post-processing bioinformatics module, which is now in use by The Royal Melbourne Hospital laboratory.”
This module produces enriched annotation information for variant interpretation (using the internationally-recognised Cromwell management system) to enhance the laboratory’s clinical testing workflow.
In addition to these two workflow enhancements, GenoVic now enables integration with Shariant to support the sharing of genomic information nationwide.
Shariant, an Australian Genomics-led initiative, is a system for real-time national sharing of scientific evidence on clinically interpreted variants. The rapid exchange of this key information enables genomic experts in laboratories and clinical services to more accurately decode the human genome.
“Our team have developed an interface between GenoVic and Shariant, allowing classified variants stored in GenoVic’s Alissa Interpret to be contributed to the platform once authorised by the laboratory.”
Both the Victorian Clinical Genetics Service (VCGS) and The Royal Melbourne Hospital (RMH) laboratories are now actively contributing variants to the Shariant platform.
Transition to a new operating entity
Following a six-month transition process, GenoVic is now operated by Citadel Health, a third-party vendor specialising in the management of health IT systems across a range of clinical domains.
Citadel Health is responsible for operational support of the GenoVic environment in Amazon Web Services, system testing and deployment of software releases, as well as managing the GenoVic Support Desk.
“Transitioning GenoVic operations to Citadel Health has allowed us to focus on further enhancing GenoVic and ensuring laboratories have what they need,” said Dr Thorne.
IMAGE: Dr Natalie Thorne leading a variant interpretation workshop in 2019.