Acute Care Genomics: Accelerating the diagnosis of rare diseases

Genetic conditions are the leading cause of death in children in high-income countries. Accurate and timely diagnosis is critical for being able to provide prognostic information and guide treatment, yet often takes many years. Established in 2018 with funding from RCH Foundation and Australian Genomics, the Acute Care Genomics study has pioneered a national approach to delivering ultra-rapid genomic testing for babies and children admitted to intensive care with genetic conditions. It has now provided testing to over 320 Australian families, with an average time to result of just under 3 days. The research program has a strong focus on comprehensive interdisciplinary evaluation of outcomes to inform future healthcare system implementation, and is committed to accelerating innovation and discovery.

Professor Zornitza Stark is a clinical geneticist with Australian Genomics and the Victorian Clinical Genetics Services. She is passionate about the implementation of genomic technologies into healthcare, particularly as a first-tier test to transform the diagnosis of rare disease.
Associate Professor Sebastian Lunke is a clinical scientist and the Head of the Department of Genetics and Genomics at the Victorian Clinical Genetics Services. He and his team are experts in genomic services delivery and have a strong focus on continuous service improvement, and translation of new technologies into clinical practice.

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