Karin S Kassahn^1,2, Lucy T Anastasi¹, Ayesha Chowdhury¹, Alex Ashenden³, Stephanie Skinner⁶,  Tomas Rozek³, Khoa Lam^2,3, Enzo Ranieri^3,4, Tracy Merlin⁵, Drago Bratkovic⁶, Ben Saxon⁶, Nicholas Smith⁶, Hamish Scott^1,2, Jennie Louise^2,7, Christopher Barnett^2,6, Carol Wai-Kwan Siu^2,3, Jovanka King^2,6,8
 

¹Department of Molecular Pathology, SA Pathology, Adelaide, SA 5000 Australia
²Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA 5000, Australia
³Department of Biochemical Genetics, SA Pathology, SA 5006, Australia
⁴Present address: Sydney Children’s Hospital at Westmead, Sydney NSW Australia
⁵School of Public Health, The University of Adelaide, SA 5000, Australia
⁶Women’s and Children’s Hospital, Adelaide, SA 5006, Australia
⁷Present address: South Australian Health and Medical Research Institute, SA 5000, Australia
⁸Immunology Directorate, SA Pathology, Adelaide, SA 5000, Australia
 

The NewbornsInSA research project explores a novel model of newborn screening by integrating metabolomic and genomic analyses into a multi-omics screen. Recruitment is conducted through health care professional referral or self-enrolment during pregnancy until shortly after birth. Complementing the metabolomic analyses, genomic newborn screening is performed by whole-genome sequencing with analysis and reporting restricted to a virtual panel of approximately 600 genes. Prospective recruitment for genomic newborn screening was first opened to families referred via health care professionals in the setting of post-natal complications, with an uptake of almost 50%. Broader recruitment directly from the general public is opening in late 2024, leveraging social media platforms, collection centres and birthing hospitals to distribute study information. This study provides examples of challenges faced in variant review and reporting in a genomic newborn screening context.