Jon Emery^1
1University of Melbourne

Polygenic risk scores (PRS) have been validated for several common cancers including melanoma, breast, colorectal and prostate. The challenge now is how to apply these to clinical care, specifically to tailor cancer prevention and screening. In this presentation I will summarise evidence on risk-stratified cancer screening and the potential application of PRS for this purpose. I will present findings from our research on applying a PRS to tailor colorectal cancer screening and more recent data on using a multi-cancer PRS to provide tailored advice on screening for melanoma, breast, colorectal and prostate. This will include evidence on the psychosocial consequences of receiving a PRS and impacts on risk-appropriate cancer screening. 

Zornitza Stark^1
1Victorian Clinical Genetics Services, Murdoch Children's Research Institute

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. The BabyScreen+ pilot study  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. Testing was successfully completed for 95% of cases using dried bloodspot cards. The screen-positive rate was 1.6%, including treatable conditions that are not currently included in NBS. 99.5% of enrolled families believed genomic NBS should be universally available.

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.