Skip to main content
Unit of study_

GMED5001: Genomics in Clinical Practice

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.

Code GMED5001
Academic unit Genomic Medicine
Credit points 6

At the completion of this unit, you should be able to:

  • LO1. Understand the biology of DNA, RNA, protein, chromosomes and cellular division that underlies modern genomic medicine
  • LO2. Describe the different categories of genetic variation and interpret genetic test reports with regard to classification of variant pathogenicity
  • LO3. Interpret family pedigrees, perform recurrence risk calculations and appreciate the complexity of genetic counselling in the setting of pregnancy and family planning
  • LO4. Manage a number of common genetic conditions, representing each of the important inheritance patterns, and including chromosomal aneuploidies and contiguous gene syndromes
  • LO5. Understand the concepts important to the genetic metabolic disorders, including diseases characterised by acute metabolite toxicity and those where chronic organelle dysfunction causes disease manifestations
  • LO6. Manage testing and counselling of families with inheritable forms of cancer, particularly breast and ovarian cancer, and bowel cancer.

Unit outlines

Unit outlines will be available 1 week before the first day of teaching for the relevant session.