Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

E Tudini; J Andrews; DM Lawrence; SL King-Smith; N Baker; L Baxter; J Beilby; B Bennetts; V Beshay; M Black; TF Boughtwood; K Brion; PL Cheong; M Christie; J Christodoulou; B Chong; K Cox; MR Davis; L Dejong; ME Dinger; KD Doig; E Douglas; A Dubowsky; M Ellul; A Fellowes; K Fisk; C Fortuno; K Friend; RL Gallagher; S Gao; E Hackett; J Hadler; M Hipwell; G Ho; G Hollway; AJ Hooper; KS Kassahn; R Krishnaraj; C Lau; H Le; H San Leong; B Lundie; S Lunke; A Marty; M McPhillips; LT Nguyen; K Nones; K Palmer; JV Pearson; MCJ Quinn; LH Rawlings; S Sadedin; L Sanchez; AW Schreiber; E Sigalas; A Simsek; J Soubrier; Z Stark; BA Thompson; J U; CG Vakulin; AV Wells; CA Wise; R Woods; A Ziolkowski; MJ Brion; HS Scott; NP Thorne; AB Spurdle

Journal article

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

E Tudini, J Andrews, DM Lawrence, SL King-Smith, N Baker, L Baxter, J Beilby, B Bennetts, V Beshay, M Black, TF Boughtwood, K Brion, PL Cheong, M Christie, J Christodoulou, B Chong, K Cox, MR Davis, L Dejong, ME Dinger Show all

American Journal of Human Genetics | CELL PRESS | Published : 2022

DOI: 10.1016/j.ajhg.2022.10.006

Abstract

Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommendations encouraging laboratories to submit genotypic data to clinical databases, fewer than 300 variants had been shared to the ClinVar public database. Consultations with Australian laboratories identified resource constraints limiting routine application of manual processes, consent issues, and differences in interpretation systems as barriers to sharing. This information was used to define key needs and solutions required to enable national sh..

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University of Melbourne Researchers

Michael Christie Author

John Christodoulou Author

Kenneth Doig Author

Sebastian Lunke Author

Related Projects (1)

Improving access and equity to blood cancer genomic diagnostics and treatment in the Northern Territory - GNT2000001

Grants

Awarded by Amazon Web Services

Funding Acknowledgements

The authors would like to thank Penny Glenn, who led the development of the Shariant terms of use and multiple rounds of minor amendments in consultation with laboratory legal teams. We also thank the laboratories who participated in the landscape analysis in 2017 and all individuals who attended the Human Genetics Society of Australasia conference workshop. We thank John Rowell and Valentine Hyland for their prior contributions to engagement of Pathology Queensland and the GenoVic team for efforts relating to initial integration of GenoVic laboratories. We wish to acknowledge Agilent Technologies, for its contribution of technical resources and ongoing support to achieve interoperability of Shariant with Agilent's variant tertiary analysis system. Shariant Australia (including funding for E.T. and J.A.) is supported by Australian Genomics (NHMRC grants GNT1113531 and GNT2000001). A.B.S was supported by NHMRC fellowship funding (APP1061779, APP177524). The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Pro-gram. The Chair in Genomic Medicine awarded to J.C. is generously supported by The Royal Children's Hospital Foundation. Hosting of Shariant on Amazon Web Services between October 2018 and September 2019 was supported by an AmazonWeb Services Cloud Credit for Research grant.