Our ability to give accurate and timely diagnoses to families using genomic testing is underpinned by our knowledge of which genes cause disease.
But with more than 4,000 known gene-disease links and hundreds more published each year, the task of assessing the evidence and integrating it into diagnostic practice can be daunting.
To tackle these challenges, Australian Genomics joined with Genomics England using a shared platform, PanelApp, to compare diagnostic approaches to 80 common indications for genomic testing.
Their study, published in the American Journal of Human Genetics, identified and resolved more than 2,000 discrepant gene-disease relationships by exchanging information and expertise, demonstrating the benefits of a shared, collaborative approach to the development and maintenance of robust, up-to-date diagnostic resources across healthcare systems.
PanelApp is an open platform that captures the evidence for gene-disease relationships from multiple clinical, laboratory and research experts. The Genomics England PanelApp was originally designed for the 100,000 Genomes project and has now evolved to support the NHS England Genomics Medicine Service. PanelApp Australia was deployed by Australian Genomics in 2019 and is used by an increasing number of Australian laboratories, with the aim of national harmonisation.
“Genomic testing in healthcare is evolving rapidly,” said study lead Professor Zornitza Stark. “The PanelApp collaboration with Genomics England is a great example of how sharing tools, knowledge and expertise internationally can lead to tangible diagnostic benefits for patients.”