Edwin Kirk is a genetic pathologist and clinical geneticist at NSW Health Pathology and Sydney Children’s Hospital. Over the years his work has focused on rare childhood diseases, reproductive genetic carrier screening and cardiac genetics. He is the co-lead of the Australian Government funded project Mackenzie’s Mission. Edwin talks about what sparked his interest in genetics, explains the science of genetics and the power of modern genetic sequencing, and how ocean swimming and the odd saxophone solo keep him going outside of the laboratory.