About this Presentation
Recessive disorders are a more frequent cause of genetic disorders in children than Down syndrome. RANZCOG recommends that information on three-gene screening be offered to all women of reproductive age, and there is increasing awareness of this testing amongst the public. Massive changes in genomic technology can now facilitate genetic carrier screening that includes hundreds of disorders in a single test. This session will cover the variety of carrier screens available and the practicalities of introducing this into standard reproductive care.
About the Expert
Dr Melanie Galea
Dr Melanie Galea is the Director of Genetics at Douglass Hanly Moir Pathology, Sonic Healthcare. Dr Galea is a medical and medical science graduate from the University of Sydney, and attained her FRCPA in Genetics in 2014. She is a member of the Royal College of Pathologists of Australasia (RCPA) Genetics Advisory Committee, and previously served as the RCPA National Coordinator for Genetic Pathology Training and as a member of the Evaluation Sub-Committee of the Medical Services Advisory Committee. Dr Galea is particularly interested in the application of genetic technologies to clinical medicine, specifically in paediatric and reproductive medicine contexts.