John Cannings, Jane Tiller, Greg Pratt and A/Prof Ainsley Newson discuss contemporary genomics challenges at AACGS.
09 January 2019
Delegates heard from national and international speakers on new scientific directions, contemporary challenges, and implementing genomics throughout the health system.
The symposium was organised by the Garvan Institute of Medical Research, Australian Genomics and the Queensland Genomics Health Alliance, and was supported by Illumina Inc.
This was the final of a triad of symposia, which have seen great growth and uptake of clinical genomics during the three years that they have run.
The symposium began with a plenary by Professor Lucy Raymond, Professor of Medical Genetics and Neurodevelopment at the University of Cambridge and Honorary Consultant in Medical Genetics at Cambridge University Hospital.
Her team trialled the use of “a genome-first approach” for rapid diagnosis of neurodevelopmental disorders in neonates and young children. They included patients who likely had a neurological condition, but did not rely on their clinical features or wait for results from other tests.
The results were positive and they are now successfully integrating this approach into the health system, with a fast turnaround time of two weeks for results and a high diagnostic rate, even in patients where there was less certainty in their clinical features.
While programs in the UK are increasingly using WGS, there is an ongoing conversation in Australia about when different tests (primarily exomes, genomes or panels) should be used. This was the topic of a lively panel discussion, which emphasised the need to balance many factors including diagnostic yield and cost to the health system.
The second plenary speaker was Dr Jason Vassy, Section of General Internal Medicine, VA Boston Healthcare System, Brigham and Women's Hospital and Assistant Professor at Harvard Medical School.
Dr Vassy emphasised that primary care providers will be key to clinical genomics provision, yet more needs to be known about how best to facilitate their involvement and the impact this would have.
The MedSeq project -- designed to investigate these questions -- found that, with 6 hours of training and some ongoing support, primary care providers managed patients with monogenic disease risk results appropriately in the majority of cases. Dr Vassy also spoke on a related topic in primary care: the benefits and risks of integrating routine pharmacogenomic testing.
Prof Kathryn North, Director of the Murdoch Children’s Research Institute and Lead of Australian Genomics, gave an informative update about Australian Genomics and the Australian Genomics Health Futures Mission, which aims to have genomics integrated into the Australian health system in the next ten years. Delegates also heard a talk on reproductive screening, providing a useful update on MacKenzie’s Mission, the first Genomics Health Futures Mission project to be launched.
Other key topics of the symposium included the benefits and approaches to data sharing, detecting splice variants, and exploring the use of multi-omics, the non-coding genome, polygenic risk scores, and personalised phenotypic profiles in research and clinical care.
Prof North moderated a panel about contemporary challenges in clinical genomics, including data privacy and insurance. Panellists also shared their expertise on ensuring equity of access across Australia and emphasised the importance and complexity of engaging patients and people outside of the genomics community in these discussions.