EP 224: Genomic newborn screening in Australia: From pilot studies to population-scale programs with Zornitza Stark of the University of Melbourne

This week on The Genetics Podcast, Patrick is joined by Zornitza Stark, Professor at the University of Melbourne and Co-Group Leader at the Murdoch Children’s Research Institute. Using early findings from the BabyScreen+ genomic newborn screening study, they examine feasibility, clinical impact, and family-wide implications beyond standard screening, and consider what these insights mean for infrastructure, policy, and equitable implementation at scale.

Show Notes: 

0:00 Intro to The Genetics Podcast

01:00 Welcome to Zornitza

01:55 Methods and findings of the BabyScreen+ study 

04:35 Scaling the BabyScreen+ study from pilot to population screening

07:46 Balancing benefits, risks, and downstream implications in genomic newborn screening

15:55 How the genes tested in BabyScreen+ were selected

19:00 Cascade testing and the family-wide implications of genomic newborn screening

22:05 What large-scale genomic newborn screening could reveal about penetrance 

23:57 Expanding genomic newborn screening over time and addressing equity, scale, and long-term value

27:47 Rapid genomic sequencing in critically ill newborns from pilot studies to national implementation

34:32 Building evidence infrastructure to interpret variants and support reimbursement decisions

37:25 Why global data sharing in genomics requires policy alignment and sustained infrastructure investment

39:55 Current priorities and the future direction of genomics in Australia

42:14 Closing remarks

Find out more:

• BabyScreen+ study

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