Findings from Melbourne Genomics’ Demonstration Project had a strong presence at the recent Human Genetics Society of Australasia (HGSA) Annual Scientific Meeting 2016, “Integrating Genomics into Healthcare”, held in Hobart from 6 to 9 August.
Melbourne Genomics’ Executive Director, Associate Professor Clara Gaff, gave an invited plenary presentation on the collaborative approach to implementing genomics in the clinic, as well as a presentation on the experience of applying exome sequencing to rare diseases.
Congratulations to Dr Maie Walsh , who was awarded second prize in the Australasian Society of Clinical Genetics’ pick of the conference’s best presentations for “Inherited peripheral neuropathy: gene panel or whole exome?”, a discussion of Hereditary Neuropathy findings from the Demonstration Project.
There were a number of presentations based on data from the Alliance's Demonstration Project showing how diagnosis rates and cost-effectiveness improved when genomic sequencing was provided to patients earlier in their journey. Three presentations covered results for rare genetic conditions of childhood: Associate Professor Tiong Tan presented on the impact of exome sequencing on the diagnostic journey and healthcare costs of older children, Dr Zornitza Stark presented on the cost-effectiveness of whole exome sequencing compared with standard diagnostic care, and Oliver Dillon's presentation discussed how exomes outperformed hypothetical gene panels. Oliver, a final year University of Melbourne Medical student, won a HGSA Vic/Tas branch scholarship to present at the conference.
Former Clinical Program Manager for Melbourne Genomics, Ivan Macciocca, presented on development of the shared clinical exome sequencing consent form that is now in use across the Alliance; Dr Sebastian Lunke presented on a cross-organisation approach for clinical exome validation, and Dr Zornitza Stark presented on how a clinically-driven variant priorization scheme out-performs in silico approaches for the diagnostic analysis of WES data.
Zornitza Stark also presented case studies at a genomics workshop that included among its panel members the leader of Melbourne Genomics’ current Complex Care project, Dr Sue White, and Melbourne Genomics’ Clinical Bioinformatics and Genomics Project Manager, Dr Natalie Thorne.
Clara Gaff joined Ivan Macciocca and clinician Associate Professor Paul James in a panel session focusing on the role of the genetic counsellor in the genomic era. On a related theme, associate genetic counsellor working with Melbourne Genomics, Gemma Brett, gave a presentation on broadening the definition of genetic counsellor roles.
Member of Melbourne Genomics’ Community Advisory Group, Mrs Margaret Sahhar, gave a personal reflection of the developing profession of genetic counselling in Australia, prior to her retirement as leader of the genetic counselling training course at the University of Melbourne.
[Image: Oliver Dillon presenting at HGSA. Courtesy Tiong Tan and Oliver Dillon.]