Biography:
Professor Edwin Kirk AM is a genetic pathologist at New South Wales Health Pathology’s Randwick Genomics Laboratory, and a clinical geneticist at Sydney Children’s Hospital. He is a conjoint appointee in the School of Clinical Medicine, UNSW. Edwin was co-lead of Mackenzie’s Mission, the national reproductive genetic carrier screening research project. His book, The Genes That Make Us: human stories from a revolution in medicine, won the 2022 BMA Medical Book Award for Popular Medicine (under its UK title, The Boy Who Wasn’t Short).
Abstract
If diagnostic applications were the first wave of medical genomics, screening is the second. It is a wave that is raggedly on the curl, making this a time of uncertainty and excitement in the field. Despite the success of projects such as the Mackenzie’s Mission carrier screening project, there is considerable uncertainty about the near to medium term future of genomic screening. Reproductive genetic carrier screening (RGCS), performed before or early in pregnancy, is already a reality, but with limitations. In Australia, screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome are government funded, but expanded screening is available only on a user-pays basis, and varies considerably between providers. Genomic newborn screening (NBS) is not yet routine anywhere, but is the subject of global interest with numerous research projects underway, including in Australasia. In this talk, Professor Edwin Kirk will review the history and current state of play in relation to both RGCS and genomic NBS, and consider likely futures, with a focus on implications for the diagnosis and management of hearing loss.