Reproductive carrier screening has been possible since the 1970s. Initially conducted by testing of blood analytes for carrier status for haemoglobinopathies and Tay Sachs disease, screening for an ever increasing number of conditions became possible by genetic testing from the late 1980s. The advent of genomic sequencing means that it is now possible to screen over 1000 genes, a process called expanded carrier screening. A Medical Research Future Fund supported project called Mackenzie’s Mission is underway. In this study, around 8000 couples will be screened for their risk of approximately 1300 genes that underlie 750 serious childhood onset autosomal and X-linked recessive disorders.
Professor Martin Delatycki is the Medical Director of Victorian Clinical Genetics Services and Co-Director of the Bruce Lefroy Centre at the Murdoch Children’s Research Institute. Martin has clinical and research interests in genetic screening and neurogenetics, and co-leads the MRFF funded project Mackenzie’s Mission.