Recent major advances in understanding of the human genome and the relationship between genetic variation and disease have changed clinical practice. This unit provides contemporary knowledge of genetic disease, diagnosis, genomic testing, prognosis, management, inheritance and impact across a range of chromosomal, single gene and heterogeneous genetic conditions. Common conditions such as intellectual disability, inherited cancer and paediatric and adult-onset disorders will be discussed. Students will gain knowledge of genomic mechanisms and genetic variations which lead to human disease. Case based approaches will be used for development of skills in interpretation of clinical, family history and genomic test results and also for appropriate diagnosis and accurate genetic risk information. Ethical issues in genomic medicine will also be considered. Advances in treatments for genetic diseases will be discussed along with possible uses and limitations of new technologies, including genome editing approaches. The RACP Clinical Genetics Advanced Training Committee met has approved this unit as a subject to fulfill the Genetics University Course Requirement, for advanced training in Clinical Genetics for Semester 1 2019.
online lectures and case discussions
online quizzes (10%), participation in online discussion forums (10%), generation and peer review of assessment items (10%), short answer questions (30%), final exam (40%)
Strachan, T and Read, A. Human Molecular Genetics (4th Edition). Garland Science. Read, A and Donnai, D. New Clinical Genetics (3rd Edition). Scion Publishing Ltd.