Genomics England’s former Chairman, Jon Symonds CBE, has been Knighted for services to UK Life Sciences and Finance. Jon brought tremendous leadership, insight and direction to Genomics England during his tenure as Chairman, and his firm belief in the potential for genomic science to transform the way in which healthcare is delivered has been critical in driving our vision. We are very fortunate to have Jon’s continuing insights and direction as he continues to serve on the Board, and are delighted that his service has been recognised in this way.
Professor Dame Sally Davies DBE has also been further recognised, with the Dame Grand Cross of the Order of the Bath, for her services to Public Health and Research. Her experience and broad knowledge continue to be invaluable in her capacity on our Board and we are tremendously grateful for her guidance and support.
We offer them both our warmest congratulations for this very well deserved recognition.
The sharing of information about gene-disease associations between Australian laboratories will be made far easier from today as Australian Genomics launches a local instance of PanelApp.
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, which does not store identifiable clinical data, open source and have 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:
create and compare evidence-based virtual gene panels for genomic analysis;
contribute towards national and international efforts to establish consensus gene-disease relationships.
Ellen McDonagh, Head of Curation at Genomics England, said:
“We’re delighted our colleagues in Australia have picked up PanelApp and are adapting it to their needs,” said Augusto Rendon, Chief Bioinformatician at Genomics England.
“This has been made possible through the partnerships that Australian Genomics and Genomics England have built as Driver Projects under the Global Alliance for Genomics and Health – demonstrating the benefits of sharing tools, knowledge and expertise globally.”
Currently in Australia, the process for documenting and sharing gene-disease associations is manual and inefficient. The consolidation of multiple disparate silos of activity into a single open national platform will reduce the gene curation burden on individual laboratory and clinical services and improve diagnostic outcomes for Australian patients.
“PanelApp Australia marks a huge step forward in enabling more efficient and robust diagnostic practices in Australia. I encourage local laboratories, clinicians and researchers to sign on to the platform and lend their expertise,” said Associate Professor Zornitza Stark from Australian Genomics, who coordinates content management for the platform.
PanelApp Australia already contains virtual panels designed and used by Australian Genomics Flagship projects, Melbourne Genomics Flagships, the KidGen Collaborative, Victorian Clinical Genetics Services, Genetic Health Queensland and The University of Melbourne’s Centre for Cancer Research (UMCCR).
Associate Professor Oliver Hofmann’s Genomics Platform Group team at UMCCR have been responsible for the technical deployment of the Australian instance of PanelApp.
“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.