Genomics Platform partners in development of PanelApp Australia

Associate Professor Oliver Hofmann’s Genomics Platform Group at the University of Melbourne Centre for Cancer Research (UMCCR) have been responsible for the technical deployment of the Australian instance of PanelApp – a platform used to reach timely consensus in gene panel content for genetic tests through crowdsourcing.

PanelApp AustraliaAustralian Genomics has launched a local instance of PanelApp, hosted by the UMCCR, making the sharing of information about gene-disease associations between Australian laboratories far easier.

PanelApp was designed by Genomics England for the 100,000 Genomes Project, and now the platform is being used to reach a consensus in gene panel content for genetic tests in the NHS Genomic Medicine Service. The Genomics England team have made the platform open source, which does not store identifiable clinical data, and worked closely with Australian Genomics to establish an Australian node of the platform.

The open nature of PanelApp allows the crowdsourcing of contributions from many experts, facilitating timely identification of newly published evidence regarding gene-disease associations.

PanelApp allows diagnostic laboratories, clinicians and researchers to:

  • share structured gene-disease validity assessments
  • create and compare evidence-based virtual gene panels for genomic analysis
  • contribute towards national and international efforts to establish consensus gene-disease relationships.

"We hope to continue to co-develop the platform in the future, connecting the two instances to facilitate knowledge transfer between Genomics England and Australian Genomics, as well as extending PanelApp Australia for somatic use case,” said Associate Professor Hofmann.

PanelApp Australia is now live and available at panelapp.agha.umccr.org. The PanelApp Australia site contains FAQs, guidelines and further information.

Read more from Australian Genomics.