Shariant is a controlled access variant hub and communication platform for real-time sharing of expertise and detailed scientific evidence about clinically curated variants between Australian laboratories and clinical services.
Shariant makes it possible to exchange key information about clinically curated variants between laboratories and clinical services so that healthcare professionals can more accurately decode the human genome.
Understanding how changes in DNA (DNA ‘variants’) cause disease is revolutionising healthcare by enabling us to deliver the right management or treatment for the right patient at the right time.
Sharing of variant interpretations is encouraged by Australian governing bodies. However, submission to existing databases is manual and time consuming, meaning that Australian genetic testing laboratories do not have the resources to share.
The Shariant project was established in response to an identified need from Australian Genomics’ partners and Australian clinical genetic testing laboratories, for assistance in meeting the growing technical and administrative requirements for clinical data sharing.
The Shariant project leads, based at QIMR Berghofer Medical Research Institute have led its roll-out, connecting nine laboratories across four states, enabling the sharing of more than 3500 interpretations.
- Genomic coordinates of a curated variant
- Clinical significance of the variant (e.g. Pathogenic, Benign)
- Structured evidence used to determine the clinical significance
- Brief details of the condition and phenotype
- Technical details of the test used to detect the variant
- Contact details for the curating laboratory
- Updates arising from communication pertaining to a specific variant (e.g. discordance resolution events)
Shariant does not:
- store genomic data files (e.g. BAM, VCF files)
- replace a laboratory’s existing curation tool
The information in Shariant is stored under controlled access meaning it is limited to those who are experts in the field. This information, or selected parts of this information, can then be made public and shared with international databases upon approval of the submitting laboratory to help everyone benefit from genomic testing.