Synopsis

Reproductive carrier screening involves testing individuals to identify risk of having children with autosomal an X linked recessive conditions. This first became possible through haematological and biochemical tests for haemoglobinopathies and Tay Sachs disease. It is now possible to test thousands of genes using next generation sequencing technologies. In this presentation we will discuss the history of reproductive carrier screening, the Mackenzie’s Mission project, the role of the paediatric subspecialist in reproductive carrier screening and the future for carrier screening.

Speakers

Associate Professor Alison Archibald is a Researcher and Certified Genetic Counsellor. She is based at Murdoch Children’s Research Institute and is an Honorary Principal Fellow with the Department of Paediatrics at The University of Melbourne. She leads research to improve the accessibility and clinical utility of reproductive genetic screening, ensuring that advances in genomics translate into better care for patients and families.

Erin Tutty is a genetic counsellor and PhD candidate from the Murdoch Children’s Research Institute and the University of Melbourne. Her research explores the psychosocial impacts of reproductive genetic screening. Erin has contributed to initiatives such as Mackenzie’s Mission and advocates for responsible implementation of genomic technologies in reproductive healthcare.

Professor John Massie is a paediatric respiratory physician who has worked in the RCH Cystic Fibrosis (CF) team for 28 years. He has been active in supporting newborn screening for CF. He has been part of the collaboration that introduced carrier screening for CF and later other inherited diseases, culminating in the Mackenzies Mission program. John is the Clinical Director of the RCH Children’s Bioethics Centre.

Professor Martin Delatycki is a clinical geneticist and is co-Director of the Bruce Lefroy Centre at MCRI. He has a long standing interest in reproductive screening. He initiated screening programs in the Jewish Community in the late 1990s and for cystic fibrosis in 2005. Martin was co-Principal Investigator of Mackenzie’s Mission, an MRFF funded project that examined the acceptability and feasibility of broad reproductive screening in the Australian population.