Genomics England’s PanelApp at the heart of international collaboration
Using the PanelApp platform, Australian Genomics and Genomics England joined forces to tackle the challenges of assessing evidence for gene-disease associations and integrating it into diagnostic practice.
Accurate clinical diagnoses rely on the knowledge we have about which genes cause disease, but currently there is still a lot of variability in the understanding of gene panels, with over 4,000 known gene-disease associations and more published year on year.
Together, the two teams published a new study in the American Journal of Human Genetics on 30 July, describing their collaborative efforts. PanelApp was integral to the comparison work where over 2,000 discrepancies in gene ratings for some rare diseases were identified and resolved. This demonstrates the benefits of a collaborative approach to the development and maintenance of diagnostic resources across healthcare systems. Importantly, this alignment in knowledge underpins our ability to provide accurate and timely diagnoses to families who are having genomic tests.
Augusto Rendon, Chief Bioinformatician at Genomics England, said:
We are delighted to have participated in this study with our Australian colleagues. They have been amazing at driving forward the content and functionality of Panelapp to make it useful for the international community.
PanelApp is an open platform which 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 Genomic 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.