New national hub for genetic evidence could be life-saving for patients
7 November 2022
Critically ill patients will benefit from a more accurate diagnosis and better treatment thanks to a new national genetic information hub led by QIMR Berghofer researchers that shares genetic information.
The platform, called Shariant, is being used by 11 laboratories to share classifications and evidence, building a national database of genetic variant information for the first time.
The project is an initiative of Australian Genomics and is being led by QIMR Berghofer in collaboration with the Centre for Cancer Biology, an SA Pathology and University of South Australia alliance. Research outlining the success of Shariant has been published in the American Journal of Human Genetics.
Professor Amanda Spurdle
Lead author, Professor Amanda Spurdle, who heads the Molecular Cancer Epidemiology Group at QIMR Berghofer, said the platform is already improving patient outcomes.
“The information has led to a critically ill child receiving a rapid genetic diagnosis and better informed clinical management.
“Shariant promotes standardised understanding of genetic variant information and leads to more accurate diagnoses for patients and more effective treatment.
“Until now, independent diagnostic laboratories doing genetic testing had no mechanism to share knowledge about new genetic variants. This led to cases where the same variant in two different patients could be diagnosed differently,” Professor Spurdle said.
Co-author Professor Hamish Scott, Head of the Department of Genetics & Molecular Pathology at SA Pathology, said Shariant ensured consistent interpretation of genetic information.
“As the head of a diagnostic laboratory I have seen cases where patients from the same family were tested for the same variant in different states, but where the diagnostic laboratories in those states arrived at different conclusions.
“It’s not that one laboratory is wrong, but that with new and shared knowledge we can come to more informed conclusions,” Professor Scott said.
Shariant features include two-way sharing of genetic evidence with laboratories
There are nearly 20,000 genetic variant classifications listed on Shariant, and this number is expected to rise, along with the number of laboratories.
Shariant has also allowed Australian labs to share information internationally, largely enabling a seven-fold increase in the number of variants submitted to the global database ClinVar in the last five years.
Co-author and Clinical Geneticist at Australian Genomics and the Murdoch Children’s Research Institute’s Victorian Clinical Genetics Services (VCGS) Professor Zornitza Stark said sharing information between laboratories was key to improving test results.
“Shariant has massively scaled up data sharing between Australian laboratories and made it easy for us to contribute internationally. It means that doctors can provide faster and more accurate diagnosis to patients,” Professor Stark said.
The Shariant platform research has been published in the American Journal of Human Genetics and is available here https://www.cell.com/ajhg/fulltext/S0002-9297(22)00454-2
