Synopsis
Genomic medicine is rapidly evolving, yet many clinicians outside of clinical genetics face challenges in integrating these advances into routine practice. In this Grand Round, Associate Professor Catherine Quinlan explores her journey mainstreaming genomics in paediatric nephrology, using real-world data from Australia and Ireland and its implementation at The Royal Children’s Hospital. From developing kidney genetics services in Victoria to harnessing data analytics and health economics for better patient outcomes, this session highlights the clinical utility of genomic testing, its cost-effectiveness, and how education and decision-support tools can empower non-genomic specialists to incorporate genomics into their practice. Central to this approach is patient engagement, ensuring that families are active partners in research and clinical care, improving trust, relevance, and the translation of genomic medicine into real-world impact. Through real-world examples and a framework for decision-making, this presentation aims to bridge the gap between innovation and everyday paediatric care.
Speaker
Associate Professor Catherine Quinlan is an academic paediatric nephrologist at The Royal Children’s Hospital, Murdoch Children’s Research Institute, and the University of Melbourne. She is Deputy Head of the Department of Paediatrics and Academic Lead for Graduate Research at the Melbourne Medical School. At MCRI, she leads the Kidney Flagship and serves as Team Leader for Kidney Genetics, driving research and clinical translation in genetic kidney disease.
Her work focuses on mainstreaming genomics into paediatric nephrology, integrating precision medicine into routine care, and ensuring equitable access to cutting-edge genetic diagnostics. Associate Professor Quinlan harnesses data analytics to improve early disease detection, using electronic medical records and large-scale datasets to identify at-risk children and enhance clinical decision-making. Through a combination of implementation science, health services research, and education, she is transforming how rare and complex kidney diseases are diagnosed and managed.