World first genomic diagnosis testing
Rapid results delivered for critically ill children
26 June 2020
The world’s first national program to deliver rapid genomic testing to critically ill children has been launched by a team including Associate Professor Zornitza Stark, clinical geneticist at the Victorian Clinical Genetics Service, and Professor Jeffrey Braithwaite, Founding Director, Australian Institute of Health Innovation, Macquarie University.
Genetic conditions are the leading cause of death for children in high-income countries with accurate and timely testing being critical in guiding treatment.
This will be the first time a program for rapid genomic testing for critically ill children has been evaluated nationally.
The $5 million funding has been announced under the Medical Research Future Fund Genomics Health Futures Mission.
The program will build on the success of the Australian Genomics Acute Care flagship study, expanding the research network to deliver ultra-rapid genomic testing to critically ill babies and children nationally. The program will evaluate whole genome sequencing (WGS) as a first-tier clinical test, with genomic results delivered in under five days. Genomic test results usually take up to several months.
“The difference for families will be, wherever they are in the country, they will receive the results of a test much quicker than before, which may help them avoid unnecessary investigations, in particular painful and invasive tests such as muscle, liver and lung biopsies," Professor Braithwaite says.
This testing may, for a small number of patients, deliver an earlier diagnosis that could prove lifesaving, by guiding more targeted treatment.
The program is expected to reduce healthcare costs to families and the health system through the avoidance of unnecessary investigations and by enabling timely treatment decisions.
The program aims to build a national multi-disciplinary workforce capacity and facilitate equitable access to genomics across every Australian State and Territory.
“Preparing the healthcare workforce for this scale of genomic testing is vitally important. We need to introduce clinicians to the services this program offers and build multi-disciplinary teams that may not have existed before. Genetic counsellors and implementation specialists for example will be integrated into hospital teams,” Professor Braithwaite says.
Alongside children and their families, participants in the program include clinical geneticists, intensive care physicians, metabolic physicians, neurologists, clinical and research scientists, bioinformaticians, genetic counsellors, implementation scientists, health economists, bioethicists and educators from across Australia.
Professor Braithwaite will lead the implementation stream of the program which aims to ensure it is scalable across geographically dispersed sites.
“We will get to know the needs of each hospital and develop an implementation strategy that ensures the program is introduced efficiently and runs effectively in order to help critically ill children and their families as seamlessly as possible,” says Professor Braithwaite.
Clinical lead for the program is Associate Professor Zornitza Stark, clinical geneticist at the Victorian Clinical Genetics Service, part of Murdoch Children's Research Institute, and Clinical Research Fellow with Australian Genomics. Laboratory lead is Dr Sebastian Lunke, Head of the Division of Genetics and Genomics at the Victorian Clinical Genetics Services.
Other partners include NSW Health Pathology, Australian Genomics Health Alliance, Sydney Children's Hospital Network, Northern Territory Genetics Services, Tasmanian Clinical Genetics Service, Genetic Services of Western Australia, Genetic Health Queensland, Queensland Genomics Health Alliance, Illumina Australia Pty Ltd, Victorian Clinical Genetics Service Limited.
The Genomics Health Futures Mission (GHFM) funds projects with the aim of helping to save or transform the lives of more than 200,000 Australians through research into better testing, diagnosis and treatment.
RELATED PUBLICATIONS
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System. Australian Genomics Health Alliance Acute Care Flagship. JAMA. 2020;323(24):2503–2511. doi:10.1001/jama.2020.7671
Building a learning community of Australian clinical genomics : a social network study of the Australian Genomic Health Alliance. Long, Janet C.; Pomare, Chiara; Best, Stephanie; Boughtwood, Tiffany; North, Kathryn; Ellis, Louise A.; Churruca, Kate; Braithwaite, Jeffrey. In: BMC Medicine, Vol. 17, No. 1, 44, 22.02.2019, p. 1-13.
A transformative translational change programme to introduce genomics into healthcare : a complexity and implementation science study protocol. Taylor, Natalie; Best, Stephanie; Martyn, Melissa; Long, Janet C.; North, Kathryn N.; Braithwaite, Jeffrey; Gaff, Clara. In: BMJ Open, Vol. 9, No. 3, e024681, 01.03.2019, p. 1-15.
The time has come: embedded implementation research for health care improvement. Churruca, Kate; Ludlow, Kristiana; Taylor, Natalie; Long, Janet C.; Best, Stephanie; Braithwaite, Jeffrey. In: Journal of Evaluation in Clinical Practice, Vol. 25, No. 3, 06.2019, p. 373-380.
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