Synopsis

Rare diseases are a leading cause of infant mortality and lifelong disability in high income countries. Incorporating genomic sequencing into newborn screening programs raises the prospect of being able to detect hundreds of early-onset, severe, but treatable genetic conditions at birth, potentially improving clinical outcomes, with genomic data stored to benefit health over lifetime and support further research. However, the challenges of implementing genomic newborn screening at scale are formidable, spanning technical, clinical and ethical aspects with the need for large, carefully designed studies to inform policy and practice. We will present the outcomes of the BabyScreen+ project, which provided genomic newborn screening to a cohort of 1,000 Victorian infants for over 600 genetic conditions with the aim of determining the feasibility and acceptability of this approach.

Speakers

Professor Zornitza Stark is a clinical geneticist at the Victorian Clinical Genetics Services; Clinical Lead, Australian Genomics; and is a co-lead of the Translational Genomics Research Group at the Murdoch Children’s Research Institute. She completed her medical studies at the University of Oxford, before training in paediatrics at The Royal Children’s Hospital in Melbourne, and in clinical genetics at VCGS. Since 2014, Zornitza has played a leadership role in numerous translational genomics projects through Melbourne Genomics, Australian Genomics, and the Genomics Health Futures Mission, all aimed at accelerating rare disease diagnosis.

Associate Professor Sebastian Lunke is a Clinical Scientist leading the Division of Genetics and Genomics at the Victorian Clinical Genetics Service, and co-lead of the Translational Genomics Research Group at the Murdoch Children’s Research Institute. Following his PhD in epigenetics and several years of post-doctoral cancer research at the University of Melbourne, Sebastian re-trained as a clinical scientist and was awarded Fellowship of the Faculty of Science at the Royal College of Pathologist Australasia in 2014. His work focuses on translation and application of new genomic technologies into clinical practice, including rapid genomic diagnosis and genomic newborn screening.