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. You will study common conditions, such as intellectual disability, inherited cancer, and paediatric and adult-onset disorders, as well as genomic mechanisms and genetic variations which lead to human disease. A case based approach will be used to develop skills in interpretation of clinical, family history and genomic test results to formulate an appropriate diagnosis and accurate genetic risk information. Ethical issues in genomic medicine will also be considered. Advances in treatments for genetic diseases will be explored, along with possible uses and limitations of new technologies, including genome editing approaches. The RACP Clinical Genetics Advanced Training Committee has approved this unit to fulfill the Genetics University Course Requirement for advanced training in Clinical Genetics. It is suitable for all practitioners who require a working knowledge of genomics in clinical practice.
online lectures and case discussions
online quizzes (10%), 4 x 400 ¿ 500 word case-based discussion forums (30%), generation and peer review of assessment items (20%), final exam (40%)
Strachan, T and Read, A. Human Molecular Genetics (4th Edition). Garland Science.