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Building genomics software links across Australia

Melbourne Genomics Health Alliance recently convened the first Australia-wide user group for a software platform that forms a vital part in the genomic sequencing process.

Software to support variant curation is being implemented as part of our Alliance's ground-breaking project to build a shared clinical data system for genomics. This software product, Agilent Alissa, is also employed by several genomic sequencing labs across Australia, and is under consideration for use by others.

Melbourne Genomics has taken a lead role in driving the development of Alissa, including this latest initiative to bring Australia users of the software together - creating cross-pollination of ideas and critical mass.

“There is much added value to be gained by joining with other users,” commented Kate Birch, Head of Data and Technology for Melbourne Genomics. “A formal User Group provides each organisation with a much louder voice in conversations around software functionality and development, and to inform the direction of future product updates."

“We want to achieve the best possible product to support clinical genomics work in Australia – to produce software that is fit for our Alliance requirements, our needs across Australia and which supports the growth of clinical genomics.”

Kate and Melbourne Genomics colleague Dr Natalie Thorne were nominated to lead the Australian  Agilent Alissa User Group, while colleague Anthony Marty was nominated for the role of technical liaison with Agilent.

Representatives from across Victoria, Queensland and NSW attended the inaugural User Group meeting, held in mid-April. Organisations represented included Monash Health, Victorian Clinical Genetics Services, Melbourne Bioinformatics, Queensland Fertility Group, The Mater Institute, NSW Pathology and the Royal Prince Alfred (Sydney).

“This initial meeting improved understanding of each other’s business, operations, specialisations, what their journey has been, and what their ongoing service delivery plans are,” said Kate.

Natalie noted enthusiastic engagement and discussion at the meeting regarding new features being developed in the next release of Alissa (version 5.2). “There was a real sense that the contributions of the User Group were already valuable and tangible, with new ideas and discussion between Agilent’s product owner and the User Group regarding the Alissa Roadmap,” she said.

A further face-to-face meeting for the User Group is planned to coincide with the Human Genetics Society of Australasia Annual Scientific Meeting in August. There are plans to extend the User Group to Asia.