October 19, 2018

Genomic diagnosis of deafness, shared data systems and genetic counselling have been on the international agenda of late, with Melbourne Genomics professionals sharing our experiences and learning from colleagues in the USA.

Dr Lilian Downie, from the Melbourne Genomics Congenital Deafness clinical project, travelled to the US recently (as an Alliance Ambassador) to meet and share her team’s work with colleagues in Boston. Dr Downie presented to three aligned projects: Babyseq team (who are offering genomic sequencing to newborns), Partners Healthcare (who offer panel testing for deafness) and the Seqaboo team (who provide whole genome sequencing for babies referred after an initial hearing test in hospital). Seqaboo started recruiting for their project in the past two months and the team was particularly receptive, Dr Downie noted.

“I was able to meet individually with many of the members of these teams, and some promising collaborations were discussed,” Dr Downie said. “There are opportunities to further investigate with US colleagues unsolved cases from our deafness project, and to share data that could inform re-analysis of these cases.

“The trip has been an excellent way to share the work that Melbourne Genomics is doing, gain insight into similar projects and collaborate in a way that will benefit our patients and research teams.”

Meanwhile, the team building our Alliance’s shared clinical data system for genomics were invited to present at the recent DNAnexus Connect conference in San Francisco. Senior Project Manager – Data and Technology, Tim Bakker, Technology Manager Anthony Marty and Clinical Bioinformatician and former Analysis Owner Chris Ieng were all part of the presentation: ‘How DNAnexus is part of a system to embed genomics into everyday healthcare.'

“Our attendance at DNAnexus Connect was to make the DNAnexus user community aware of the Alliance and the work we are doing in delivering a shared clinical data system to support the integration of genomic medicine into healthcare,” Tim Bakker said. “We were also there to listen to other DNAnexus users and understand how they are using the platform as part of their work in both clinical and research areas.”

And genetic counsellor, Lyndon Gallacher, involved in the Melbourne Genomics Complex Care clinical project, recently travelled to the Broad Institute of Harvard and MIT, as an Alliance Ambassador. Lyndon is learning how the Broad involves their genetic counselling workforce in variant analysis and curation, with the view to providing variant curation training at future Melbourne Genomics workshops.

[Image:  Melbourne Genomics' Senior Project Manager – Data and Technology, Tim Bakker, Technology Manager, Anthony Marty, and Clinical Bioinformatician and former Analysis Owner, Chris Ieng, on stage at the DNAnexus Connect conference.]


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