The Discipline of Genetic Medicine is represented by teaching and research staff on campus and in each of the Clinical Schools and the Research Institutes of the University of Sydney.

All of the sub-disciplines of Genetic Medicine including Clinical Genetics, Genetic Counselling, Clinical Cytogenetics, Biochemical, Molecular and Population Genetics, Genetic Epidemiology, Genetic Therapy, Newborn Screening and Genetic Education are represented within the Medical School. Thus Genetic Medicine represents the contribution of the elements which reflect the many facets of genetic medicine including diagnosis, investigation, prevention and treatment of genetic disorders.

In keeping with the rapid expanding knowledge base in genetics, the research and clinical practice of members of the discipline is both diverse and constantly changing.

Members of the discipline make contributions in the areas of molecular medicine, immunogenetics, craniofacial genetics, inborn errors of metabolism in children and adults, genetic skeletal disorders, genetics in cancer, genetic neurological disorders and SNP association studies in the context of complex disease.

Each clinical school is developing its own network of teachers and researchers.