International collaboration PanelApp accelerates rare disease diagnosis
An international collaboration between Australian Genomics and Genomics England is advancing our ability to give accurate and timely diagnoses to families through genomic testing.
An international collaboration between Australian Genomics and Genomics England is advancing our ability to give accurate and timely diagnoses to families through genomic testing.
What is genomic testing?
Genomic testing is a powerful test that can help identify the cause of health and developmental problems.
Using genomic testing to give accurate and timely diagnoses is underpinned by our knowledge of which genes cause disease. There are currently more than 4,000 known gene-disease links that play a role in disease, and hundreds more published each year.
Assessing newly published genes for whether they cause disease, and for their suitability to be integrated into diagnostic practice, can be challenging.
What is PanelApp?
To tackle this, Australian Genomics Health Alliance collaborated with Genomics England to use a shared platform called PanelApp. A local instance, PanelApp Australia, was deployed in 2019.
PanelApp is a crowdsourcing tool that allows gene-disease relationships to be reviewed by experts, so that the most up-to-date information can then be used to analyse genomic test results.
As part of the collaboration, Professor Zornitza Stark, Clinical Geneticist at Victorian Clinical Genetics Services (VCGS), led a recent study published in the American Journal of Human Genetics which reviewed the processes by which genes were assessed and identified as playing a role in disease. This enabled the strengthening of the evidence base for diagnostic use, ultimately resulting in more diagnoses for patients.
What does PanelApp Australia mean for VCGS?
VCGS is a key contributor to PanelApp Australia. All virtual gene panels used by VCGS to analyse genomic data are openly available on the platform, and our team has led collaborative efforts with other diagnostic laboratories around Australia to create and maintain this resource.
PanelApp Australia has streamlined test ordering, while increasing the efficiency and robustness of genomic data analysis.
“Genomic testing in healthcare is evolving rapidly” said Professor Stark. “The PanelApp collaboration is a great example of how sharing tools, knowledge and expertise nationally and internationally can lead to tangible diagnostic benefits for patients.”