Victorian Clinical Genetics Services

Scaling up Genomics

Introduction: Genomic testing has substantial diagnostic and clinical value in nephrology, yet integrating testing into routine care requires service-level changes to ensure timely and equitable access. Methods: We conducted an observational cohort study at four tertiary centres,...

Challenges and approaches to genetic variants of uncertain significance in clinical practice and research

Despite advances in sequencing technologies and variant interpretation frameworks, many variants identified in genetic testing, particularly missense variants, remain classified as variants of uncertain significance (VUS), posing ongoing challenges in diagnosis and clinical manag...

Mapping pediatric cardiac troponin testing worldwide: results from the IFCC survey on emerging applications, standardization needs and access

OBJECTIVES: Limited guidance on the use and interpretation of cardiac troponin (cTn) testing in pediatric populations has restricted its broader adoption, despite the significant burden of congenital and acquired cardiac conditions in children. This survey aimed to evaluate globa...