Finding evidence that a gene is linked to a particular disease is a key component of genomic analysis and reporting.
Focusing analysis on genes known to cause particular medical problems, such as epilepsy or immunodeficiency, increases the chance of making a timely diagnosis. However, knowledge about gene-disease relationships is constantly evolving in light of new gene discoveries, making the creation and maintenance of knowledge databases a resource-intensive, largely manual process.
PanelApp Australia is an open platform used by Australian laboratories, clinical and research groups to record and share structured gene-disease validity assessments. The open nature of the platform allows the crowdsourcing of contributions from many experts, which facilitates the timely identification of newly published evidence for gene-disease associations. The platform also serves as a tool to promote harmonisation and establishment of national consensus about which genes should be analysed for particular clinical indications, promoting evidence-based diagnostic practice while reducing duplication of effort.
The platform will also facilitate knowledge transfer between the Australian clinical genomics community and international gene curation efforts, benefiting patients in Australia and globally.
Professor Zornitza Stark
Victorian Clinical Genetic Services
Professor Oliver Hofmann
University of Melbourne