Conferences and publications

Publications

KCCG is part of national and international partnerships to improve genomics knowledge and translate these discoveries into clinical care.

The first publication from the Lions Kids Cancer Genome Project was accepted in Cancer Biology & Therapy, with Dr Velimir Gayevskiy, and Dr Mark Cowley from the Translational Genome Informatics program co-senior authors. This paper highlights the effectiveness of an integrated genomic, and pre-clinical strategy for improving treatment outcomes in hard to diagnose, high-risk brain tumours.

The National Cardiogenomics Program, an initiative of the Victor Chang Cardiac Research Institute and Garvan Institute, also had their first two publications. The first is a paper Whole-Genome Sequencing as a First-Line Genetic Test in Familial Dilated Cardiomyopathy in Genetics in Medicine on 2 July. The first author was Dr André Minoche, and A/Prof Marcel Dinger, Dr Mark Cowley, and Prof Diane Fatkin from Victor Chang shared last authorship, highlighting this work’s collaborative nature.

The second, Whole Genome Sequencing Improves Genetic Testing Outcomes in Hypertrophic Cardiomyopathy, was published in the Journal of the American College of Cardiology in July. This is also a demonstration of KCCG’s collaborations, with Dr Andre Minoche, Dr Mark Cowley, A/Prof Marcel Dinger as authors along with Dr Richard Bagnall and A/Prof Chris Semsarian from Centenary Institute.

Bronwyn Terrill was a principal investigator in Genioz, the first large scale Australian study to explore attitudes towards personal genomics. The first paper from this study, ‘Australians’ views on personal genomic testing: focus group findings from the Genioz study’ was published in the European Journal of Human Genetics on 30 April.

Ms Terrill is also part of Australian Genomics Health Alliance teams who are mapping genomic education activities and resources available to health professionals and patients in Australia. Both groups recently published technical reports: read about education provision for health professionals and the landscape of genomic information materials for patients.

Other recent papers from KCCG researchers include a perspective paper on how whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing published in the Medical Journal of Australia on 9 April and authored by Dr Mark Cowley, A/Prof Marcel Dinger, Prof John Mattick and Nicole Schonrock.

Conferences

Bronwyn Terrill, Education and Communication program leader, presented on “Communicating genomics: literacy and the media landscape” at a Master of Genetic Counselling workshop at the University of Sydney; and helped to facilitate the first Genomics Education Network of Australasia - an initiative of the meeting at UTS in August.

Dr Martin Smith, Genomic Technologies program leader, presented at:

• the Genomic Generation Forum: How will precision medicine change the way we live?, organised by Sydney Pathfinders
• Vivid Sydney as a finalist of the Building Better Futures for Health Challenge with a talk on identifying bloodstream infection with real-time genome sequencing

Dr Mark Cowley, Tumour Genomics program leader, presented at:

• the Murdoch Children’s Research Institute Functional Genomics seminar series on “Translating genomics to the clinic, for rare diseases and rare cancers”
• the Cold Spring Harbor Biology of Genomes conference on “Translating cancer genomics to the clinic for high-risk childhood and rare adult cancers”
• the Westmead Hub Bioinformatics and 'Omics Seminar on “Cracking open the whole genome
• UNSW on “Precision Cancer Genomics”
• the Human Genetics Society of Australasia conference on “Precision Cancer Genomics Trials for high-risk childhood and rare adult cancers”
• Queenstown Research Week Cancer Satellite on “Precision cancer genomics for advanced childhood and rare adult cancers”
• The Australian Precision Oncology Symposium as a Molecular Tumour Board Panel Member
• The Mito Foundation's What's on the Horizon Seminars on “Whole Genome Sequencing for diagnosing Mitochondrial Disease”

A/Prof Marcel Dinger, KCCG visiting scientist, presented at:

• the 17th Annual Health Insurance Summit on “Entering the genomic age: Impact of personal genome information on healthcare and our lives”
• the AWS Summit Sydney on “Genomics and the era of precision healthcare”
• the Genetics and Genomics 2018 LabRoots Virtual Event on “Point-of-care genomics: A new horizon in personalized healthcare”