Exploring Genomic Newborn Screening: Findings from the NewbornsInSA Cohort

Exploring Genomic Newborn Screening: Findings from the NewbornsInSA Cohort

Newborn bloodspot screening has been a cornerstone of Australian public health for decades, helping identify more than 30 serious but treatable conditions in the first days of life. As genomic technologies rapidly evolve, new opportunities are emerging to detect a wider range of conditions earlier and more accurately.

NewbornsInSA is one of Australia’s first large‑scale studies exploring how genomics and metabolomics could enhance newborn screening in a real‑world public health setting. Led by Professor Karin Kassahn (SA Pathology), the study offered genomic newborn screening to 1,000 South Australian infants, identifying 27 babies with conditions that benefit from early intervention. Families also shared their experiences through surveys, providing valuable insights into what supports or hinders participation.

Alongside genomic screening, the study developed and tested a new semi‑targeted metabolomics algorithm, designed to broaden the range of detectable conditions. This multiomic approach has now been clinically accredited and trialled in both retrospective and prospective cohorts.

In this webinar, Professor Kassahn will share:

• What the study uncovered about the potential of genomic and metabolomic screening
• How families and clinicians responded to this new approach
• Practical lessons from implementing a clinically accredited genomic workflow
• Opportunities and challenges for expanding newborn screening in Australia

This session is ideal for laboratory scientists, healthcare professionals, and anyone interested in the future of newborn screening and precision health.

Speaker:

Professor Karin Kassahn Head of Technology Advancement, SA Pathology and Affiliate Professor, Adelaide University Professor Karin Kassahn is the Principal Investigator of the  NewbornsInSA research study, one of the first genomic newborn screening (gNBS) research studies embedded within an Australian public health system, offering screening for more than 600 conditions to 1,000 South Australian families. This gNBS workflow achieved clinical accreditation and has already enabled early diagnoses and prevention of serious health complications. In parallel, the study is also designing and evaluating a novel metabolomic screening algorithm as a complementary tool. Prof Kassahn has a distinguished record of translating genomics into routine clinical care, leading the introduction and accreditation of whole-exome sequencing at SA Pathology in 2015, rapid prenatal genomic testing in 2018, and whole-genome sequencing in 2024. She also contributed to national initiatives including the PreGEN, Genomic Autopsy and Acute Care Genomics studies and helped implement RNA sequencing, bioinformatics analysis automation, and genomic newborn screening approaches. Since joining SA Pathology in 2013, Prof Kassahn has overseen the clinical reporting of more than 3,000 exomes, 4,000 gene panels, and 1000 whole genomes, secured over $40million in research funding, authored more than 80 publications (including in Nature, JAMA, and Nature Medicine), and delivered more than 30 invited presentations.