Variants are changes in a patient’s genetic code identified by a genomic test that may help diagnose or treat their condition. Linking a variant to a disease is a complex process involving comparisons with existing data to determine whether a variant is already known. This relies on the safe and secure storage, but also sharing, of data.
Shariant, an Australian Genomics-led initiative, is a system for real-time national sharing of this vital data between Australian laboratories and clinical services. The rapid exchange of this key information allows genomic experts to decode the human genome with greater accuracy.
Importantly, it supports a process to automatically identify and resolve discrepancies in variant interpretation. Shariant also facilitates the sharing of variant interpretations internationally.
Decoding the clinical significance of DNA variants is complex and challenging when clinical laboratories operate in silos. Sharing variant interpretations across laboratories improves accurate diagnoses and the management of patients’ health.
As of June 2021, Shariant has more than 7000 prospective variant interpretations from 10 clinical genetic testing laboratories across four states. Nine laboratories from another three states are in the process of joining.
This project aims to enable variant interpretation sharing across all Australian clinical genetic testing laboratories and facilitate national standards for variant interpretation.
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Professor Amanda Spurdle